Nathan Wayne Carr ~ How Porphyria can get one feeling low
Saturday - December 27, 2014 @ 13:05:00
Nathan Wayne Carr ~ How Porphyria can get one feeling low
How Porphyria can get one feeling low
Recently, I posted on Facebook how I have been dealing with my mental state. I just need to reach out to my Porphyria family. For the past few months, I have not been answering my telephone or keeping medical appointments. Friends have been calling and the power on the cell has been off. I have been feeling overwhelmed, seems as if I only have enough energy to deal with me. My doctor asked me to see psychologist months ago, but I never went to the appointment. I told myself I could handle it. I definitely needed a Prozac adjustment. I am trying hard to climb out of this space, I keep a lot to myself about how I feel, but I can share with you all easily. I need to be true to myself.
When I was asked to write this article regarding depression and anxiety, my mind went back over twenty years ago, when I finally received a diagnosis. I was given information to contact the American Porphyria Foundation, and I was happily waiting to receive the information packet. When it arrived, I was set and ready to read the Porphyria booklet from cover to cover. I started reading, but every time I got to the symptoms section I kept closing the book. I kept getting stuck on mental afflictions, but thought they do not apply to me.
It is morning, and I am awake. I feel as though I arise into a world that is not my own. A world formed from the elements of the earth that my body cannot withstand: the sun, UVA and UVB rays, weeds, trees, mold, grass and a variety of foods. I was once meeting with a doctor and he told me I was in denial of my condition, which was true at the time. I just wanted it to be a bad dream, and I would awake lying on the beach soaking up the sun.
But this is my reality and I too have to except it. I was in a dark place. I felt as though I was in a hole unable to crawl out. I have the support of many wonderful friends and family members that are concerned about me, but, during those times of depression I shut off mostly everyone. I didnt answer my telephone nor returned calls to those who cared.
I had to find a way to pull myself up out of the self-pity I was wallowing in. I was so tired of the pain, nausea, no appetite, weight loss and the constant medical bills that kept pouring in. One day, with the help of friends, I pulled through. I had to remind myself that this too shall pass. I have been here before and made it. I was focusing on what maybe yet to come and not on what was taking place in the moment; that I am surrounded by a loving family and friends who love me as I am and concerned about my well-being. And that God has always been my rock, provider and protector. I am learning to be content.
I also had to make a decision to take better care of myself by keeping my medical appointments that were regularly scheduled. Yes, I do get tired of going to the doctors. I recently joined the YMCA so that I can strengthen my body and clear my mind. At times, workouts can be painful especially during times of muscle weakness or mild crisis. But with a new determination I arise. I thank God for my parents, sisters, daughters, granddaughters and friends that are understanding and encourage me to take better care of myself regardless of my situation.
I have made an appointment with a psychologist. This time I do plan on building a relationship with this individual to help me cope with these issues and find things to do that I enjoy. I do not know why I feel so selfish when I have to make decisions for myself and my well-being regardless of how others feel. I do think that the medical issues I had last year changed me and my body.
I am satisfied with seeing my new psychologist, being able to speak freely about how I feel and to help me cope with daily living. We know that living with Porphyria is very painful and difficult to carry out everything we have planned. I have just learned to expect the unexpected and that I have to be prepared for any changes in my life. From what I have gone through in the past reminds me that I can cope with the future. I am making it one day at a time.
I had to remove some individuals from my life that just could not understand my illness or caused me stress and it made me feel better. I am spending time concentrating on myself, eating more, walking daily, spending time in the gym and surrounding myself with friends and family that make me laugh and do not try to fix me.
I love myself just the way I am. I was beautifully made by the hands of God. He knew me while I was in my mothers womb. So he was aware of my situation and is prepared to help me through it.
Nathan Carr 2/13/2014
Thank You for sharing your personal journey with us Nathan.
"Remember..Research is the key to your cure!"
Take Steps to Improve Your Health
Thursday - December 25, 2014 @ 13:03:00
Take Steps to Improve Your Health
DO YOU remember Ram, mentioned in the first article of this series? Like many others around the world, Ram was unaware of how important proper eating and other daily practices are to health. He relates: The Awake! article Nutritious Foods Within Your Reach (May 8, 2002) helped me to understand why we should be aware of nutrition.
Ram explains: As a family, we tried to apply what we learned from the article. After a while, we found that our immune systems were strengthened. Before we began paying attention to our nutrition, we used to catch colds quite often, but now we seldom do. We also learned about economical and easy ways to obtain clean drinking water, thanks to theAwake! article Six Ways to Safeguard Your Health.September 22, 2003.
Another Awake! article helped me to improve the health of my family. It was entitled SoapA Do-It-Yourself Vaccine, in the November 22, 2003, issue. We tried the suggestions in this article as soon as we read it. Now we no longer suffer from eye infections as before.
Do not give up! Whatever adjustments you need to make, you may experience more success by starting gradually and not setting unreachable goals for yourself. For example, try cutting down on less-healthful foods, rather than cutting them out. Try going to bed a little earlier and getting a little more exercise. Doing something is better than doing nothing. It normally takes timeweeks or monthsbefore a new good habit becomes second nature. In the meantime, if you do not see immediate benefits from your extra efforts, do not despair. If you persist, despite setbacks, your health is likely to improve.
In this imperfect world, it is impossible for anyone to attain perfect health. When you get sick, it may be the result, not of negligence on your part, but of inherent human frailty. Therefore, do not let health concerns, or anything else, cause you undue stress and anxiety. Instead, simply try to avoid things that needlessly shorten life and impair its quality. Doing so can help you to enjoy the best health possible!
Good Health to you all!
"Remember..Research is the key to your cure!"
Key 5Motivate Yourself and Your Family
Wednesday - December 24, 2014 @ 11:46:47
Key 5Motivate Yourself and Your Family
Everyone shrewd will act with knowledge. Arming yourself with basic health information can equip and help motivate you to make needed adjustments for better personal and family health.
Keep learning. Public and private institutions in many lands provide educational programs and literature on a wide range of health topics. Take advantage of them, and educate yourself about basic ways to improve your health and to avoid endangering it. Keep an open mind, and be willing to make simple adjustments.
The good habits you learn and put into practice may well benefit your children and their children after them. When parents set a good example in regard to healthful nutrition, cleanliness, sleep habits, exercise, and disease prevention, their offspring are likely to benefit.
What more is needed? It takes more than self-interest to establish and maintain a healthful way of life. Eliminating long-standing bad habits can be daunting, and making even simple adjustments often requires strong motivation. Even the threat of serious illness and death may not move some to do what they know is good for them. What will? Like all of us, they need to keep in mind a higher purpose, or objective, in life.
Mates need to remain healthy and strong to continue helping each other. Parents desire to go on supporting and training their children. Grown children need to care for aging relatives. Add to this the noble desire to be a blessing to the community rather than a burden. All of this involves love and concern for others.
An even stronger motivation derives from gratitude and devotion to our Maker. If we are healthy, we can serve God more actively. There could be no higher or more motivating reason to take care of ones health.
"Remember..Research is the key to your cure!"
Enjoy the benefits of a healthy lifestyle
New APF Stuff is here gets yours today before they go! All Pictures included below
Wednesday - December 24, 2014 @ 11:21:43
New APF Long Sleeve & Short Sleeve APF T-Shirts are here!
â?¢ Short Sleeve White/Purple Lettering
â?¢ Long Sleeve are Dark Grey w/ Purple Lettering
Our hope for the T-shirts is that you all will buy and wear them to help promote and raise questions about Porphyria and to raise funds for the Dr. Packets, pain Management docs, among many other publications we make available at no cost. There are also some copies of Porphyria Live for sale. For information on how to order the T-Shirts and/or the Porphyria Live Video see below.
You can order a T-shirt and/or Porphyria Live DVD, Awareness Ribbons & Wristbands by sending an email order to Amy.APF@gmail.com.
I must have name, complete address, and phone number. Also include the Quantity of T-shirts and the size for each one.
To accept payment: One of two options: 1} I can accept Paypal VISA/MC only I must have full name on the card, account#, exp. date, 3 digit code on back of card CVV-
2}I will accept money orders. You must have name/address/phone # on them. Your information will be kept confidential and never on file, and will be destroyed promptly after each transaction. Address will be supplied after order is received for privacy purposes.
*The APF will not take orders or calls about T-shirts*
Once I receive the order I will ship out your product. All products will be shipped out Priority mail with tracking. Each person also will receive a receipt with T-shirts. T-shirts come in the following sizes S, M, L XL,1xl, 2xl, 3xl they are 100% cotton, heavy not thin, and very durable. No other sizes. The price per T-shirts is 19.00$/shirt. Long sleeve shirts are priced at 25.00$/shirt. This covers the shirt, shipping and tracking, and priority mail. International orders: I will have to consult first with the post office for shipping rates.
The price of the Porphyria Live DVD is $10.00 each. Shipping is included in the price. See porphyriafoundation.org for content info. ****We now are selling Porphyria Awareness Ribbons****
We have Dark Red, Dark Purple, Royal Blue, Mixed Red/Purple they each come with a pin on the back. Each are 2.00$ each or 4/8.00$
- Please specify what color you are wanting or I will give assortment per order. If purchasing another APF items there is no extra charge for shipping.
Dont forget we also have the APF wristbands to match in the same colors as the ribbons. Please specify what color you are wanting or I will give assortment per order. Shipping is 6.00$ for all the wristbands. Cost for wristbands is 2/6.00$ or 3.00$ each
100% of all funds received will go back to the APF
"Remember.Research is the key to your cure!"
Merry Christmas and Happy New Year from the APF!
Wednesday - December 17, 2014 @ 14:22:13
Merry Christmas and Happy New Year from the APF!
We wanted to take this opportunity to wish you all a joyous holiday season. Please, consider volunteering for the research studies currently being conducted.
YOU are the KEY to research and RESEARCH is the KEY to your CURE.
To become a patient volunteer, please contact me or Natalia Apf on Facebook, or call us: 713-266-9617
"Remember..Research is the key to your cure!"
Key 4Protect Your Health
Monday - December 22, 2014 @ 13:00:04
Key 4Protect Your Health
Shrewd is the one that has seen the calamity and proceeds to conceal himself. Taking simple protective steps can help you avoid much sickness and misery, as well as loss of time and money.
Keep yourself clean. Hand washing is the single most important thing that you can do to help prevent the spread of infection and to stay healthy and well, reports the U.S. Centers for Disease Control and Prevention. As many as 80 percent of infections are said to be passed on by unclean hands. So wash them often throughout the day. Do so especially before eating, preparing food, or dressing or even touching a wound, and do so after touching an animal, using the toilet, or changing a babys diaper.
Washing with soap and water is more effective than using alcohol-based hand sanitizers. Children stay healthier when parents train them to wash their hands and to keep them away from their mouth and eyes. Bathing every day and keeping your clothes and bed linens fresh and clean also contribute to better health.
Avoid infectious disease. Avoid close physical contact or the sharing of eating utensils with any who have a cold or the flu. Their saliva and nasal secretions can pass the illness on to you. Such blood-borne diseases as hepatitis B and C and HIV/AIDS are transmitted primarily through sexual contact, intravenous drug use, and transfusion. Vaccination can help to prevent some infections, but a wise person must still take necessary precautions when with someone who has an infectious disease. Avoid insect bites. Do not sit or sleep outdoors unprotected when mosquitoes or other disease-carrying insects are active. Use bed nets, especially for children, and use insect repellents.*
Keep your home clean. Make whatever extra effort is needed to keep your home tidy and clean, inside and out. Eliminate any places where water can collect and mosquitoes can breed. Litter, filth, and uncovered foods and garbage attract insects and vermin, all of which can bring in microbes and cause disease. If there is no toilet, build a simple latrine rather than just relieving yourself in a field. Cover the latrine to keep out flies, which transmit eye infection and other diseases.
Avoid injuring yourself. Obey safety laws when working, riding a bicycle or motorcycle, or driving a car. Make sure your vehicle is safe to drive. Use appropriate protective equipment and clothing, such as safety glasses, headgear, and footwear, as well as seat belts and hearing protection. Avoid excessive sun exposure, which causes cancer and premature aging of the skin. If you smoke, stop. Quitting now will significantly lower your risk of heart disease, lung cancer, and stroke.*
"Remember..Research is the key to your cure!"
Key 3Keep Yourself Moving
Friday - December 19, 2014 @ 10:30:02
This can be the hard part!
Key 3Keep Yourself Moving
If exercise were a pill, it would be the most widely prescribed medication in the world. (Emory University School of Medicine) Of all the things we can do for our health, few are more generally helpful than physical exercise.
Exert yourself. Leading a physically active life can help us feel happier, think more clearly, have more energy, be more productive and, along with proper diet, control our weight. Exercise need not be painful or extreme to be effective. Regular periods of moderate exercise several times a week can be very beneficial.
Jogging, brisk walking, biking, and taking part in active sportsenough both to get your heart beating faster and to cause you to break a sweatcan improve your endurance and help to prevent heart attack and stroke. Combining such aerobic exercise with moderate weight training and calisthenics helps to strengthen your bones, internal muscles, and limbs. These activities also contribute to maintaining a higher metabolism, which automatically helps to control your weight.
Exercise can be enjoyable
Use your feet. Exercise is beneficial for people of all ages, and membership in a gym is not required to get it. Simply using your feet instead of a car, bus, or elevator is a good start. Why wait for a ride when you can walk to your destination, perhaps even arriving there faster? Parents, encourage your children to participate in physical play, outdoors whenever possible. Such activity strengthens their bodies and helps them to develop whole-body coordination in ways that sedentary entertainment, such as video games, cannot.
No matter how old you are when you start, you can benefit from moderate physical exercise. If you are older or have health problems and have not been exercising, it is wise to consult a doctor about how to begin. But do begin! Exercise that is started gradually and not overdone can help even the oldest among us to maintain muscle strength and bone mass. It can also help seniors to avoid falls.
Exercise is what helped Rustam, mentioned in the first article of this series. Seven years ago, he and his wife began jogging a little each morning, five days a week. At first, we made excuses not to go, he relates. But having a partner helped to motivate both of us. Now it has become a good, enjoyable habit.
"Remember..Research is the key to your cure!"
Key 2Take Care of Basic Body Needs
Wednesday - December 17, 2014 @ 15:10:05
Key 2Take Care of Basic Body Needs
No one ever hated his own body: on the contrary, he provides and cares for it. Taking basic steps to care for yourself can make a world of difference in your health.
Get enough rest. Better is a handful of rest than a double handful of hard work and striving after the wind. The demands and distractions of modern life have whittled away at the time people spend sleeping. But sleep is essential to good health. Studies show that during sleep our body and brain repair themselves, benefiting memory and mood.
Sleep reinforces the immune system and reduces our risk of infection, diabetes, stroke, heart disease, cancer, obesity, depression, and perhaps even Alzheimers disease. Rather than artificially bypassing sleepinessour natural safety devicewith sweets, caffeine, or other stimulants, we should heed it and simply get some sleep. Most adults need seven to eight hours of sleep every night to look, feel, and perform their best. Young people need more. Sleep-deprived teens are more prone to have psychological troubles and to fall asleep when driving.
Sleep is especially important when we are sick. Our body can overcome some illnesses, such as a cold, if we simply get extra sleep and drink plenty of fluids.
Take care of your teeth. Brushing your teeth and flossing them after meals, and especially before going to bed, will help ward off tooth decay, gum disease, and tooth loss. Without our own teeth, we may not benefit fully from the food we eat. It is reported that elephants do not die of old age but that they slowly starve to death after their teeth wear down and they can no longer chew properly. Children who have been taught to brush and floss their teeth after eating will enjoy better health in youth and throughout life.
Go to the doctor. Some ailments call for professional medical attention. Early diagnosis usually results in a better outcome and less expense. So if you do not feel well, get help to find and eliminate the cause, instead of merely seeking to relieve the symptoms.
Regular checkups from accredited health-care providers can head off many serious problems, as can getting professional medical attention during pregnancy.* Keep in mind, though, that doctors cannot perform miracles. Complete healing of all our ills will take place only when God makes all things new.
"Remember..Research is the key to your cure!"
Our New Medical Hero! Tara Cantley
Wednesday - December 17, 2014 @ 10:30:02
Our New Medical Hero!
Tara Cantley is one of the most recent patient volunteers to enroll in the Longitudinal Study, Panhematin Study and the Natural History Study of Acute Liver (Hepatic) Porphyria. The APF flew Tara down to the University of Texas Medical Branch in Galveston, TX to meet with one of the leading experts on porphyria, Dr. Karl Anderson. Tara is excited to be a part of the very important research studies and be able to make a difference and help others.
Jessica from the APF was able to go down and visit with Tara while she was admitted to the UTMB hospital. They were able to chat for hours, after that Tara had finished her study requirements for the day. Jessica even had the unique opportunity to meet Dr. Anderson, along with one of Tara's wonderful nurses. Tara and Jessica enjoyed spending time together and it was a great experience for Jessica, who is new to the APF office. Tara understands how important the research studies are for both her and others affected by porphyria. She encourages others to volunteer and wants everyone to know: "Research is the key to our cure!" We would like to thank Tara and all patient volunteers for participating in the research studies!
Become A Medical Hero!
We have a chance to have a treatment to prevent attacks of acute porphyrias (AIP, HCP and VP). However, researchers need You. Without you, we cannot move forward to do research to get the new treatments approved. Safety studies have already been done. You are needed. You will be flown to the research center at No expense to you. You donate your blood and have an exam and fly back home. The first part of the study does NOT include a drug trial. During this part experts study you your attacks and your blood. Then the second part of the study is the drug trial.
This study is extremely important to the understanding of porphyria, including why the pain associated with the disease is so severe, and why some people have symptoms and others don't.
The porphyria research centers are in San Francisco, Birmingham, Galveston, New York City, Salt Lake City, and Wake Forest at University of NC.
Become a medical hero. Please help us get a new treatment. Contact the APF office to learn more: 866.APF.3635.
"Remember.Research is the key to your cure!"
Key 1Eat Wisely
Tuesday - December 16, 2014 @ 13:36:13
Key 1Eat Wisely
Eat food. Not too much. Mostly plants. With these few words, author Michael Pollan encapsulates simple, time-tested dietary advice. What does he mean?
Eat fresh foods. Concentrate on eating real foodwhole, fresh foods that people have been enjoying for millenniumsrather than modern processed foods. Commercially prepackaged foods and fast food from chain restaurants usually contain high levels of sugar, salt, and fat, which are associated with heart disease, stroke, cancer, and other serious illnesses. When cooking, try steaming, baking, and broiling instead of frying. Try using more herbs and spices to cut down on salt. Make sure meats are properly cooked, and never eat spoiled food.
Do not eat too much. The World Health Organization reports a dangerous worldwide increase in overweight and obese people, often the result of overeating. One study found that in parts of Africa, there are more children who are overweight than malnourished. Obese children are at risk of present as well as future health problems, including diabetes. Parents, set a good example for your children by limiting your own portions.
Eat mostly plants. A balanced plate favors a variety of fruits, vegetables, and whole grains over meats and starches. Once or twice a week, try substituting fish for meat. Reduce refined foods such as pasta, white bread, and white rice, which have been stripped of much of their nutritional value. But avoid potentially dangerous fad diets. Parents, protect your childrens health by helping them to acquire a taste for foods that are healthful. For example, give them nuts and thoroughly washed fresh fruits and vegetables for snacks instead of chips or candy.
Drink plenty of fluids. Adults and children need to drink plenty of water and other unsweetened liquids every day. Drink more of these during hot weather and when doing heavy physical work and exercise. Such liquids aid digestion, cleanse your body of poisons, make for healthier skin, and promote weight loss. They help you to feel and look your best. Avoid drinking excessive amounts of alcohol and too many sweetened drinks. One soft drink a day can add 15 pounds (6.8 kg) to your weight in a year.
In some lands, obtaining clean water can be hard work and is expensive. Yet, drinking it is vital. Tainted water needs to be boiled or chemically treated. Dirty water is said to kill more people than wars or earthquakes; it reportedly kills 4,000 children a day. For infants, the World Health Organization recommends only breast-feeding for the first six months, then breast-feeding plus some other foods until at least the age of two.
"Remember..Research is the key to your cure!"
APF Gets NEW Shirts, Awareness Ribbons, Videos, and Wristbands. Get Yours TODAY!
Monday - December 15, 2014 @ 00:30:03
Dark Purple & Dark Red
Dark Blue
Dark Red
Dark Purple
Light Blue, Dark Blue, Red, Purple- APF porphyriafoundation.com
You Can Improve Your Health
Friday - December 12, 2014 @ 10:30:00
As the family and holiday times approach many are concerned about their health the foods they eat and what simple measures they can take to ensure that they have good Health. As always please follow up and ask any questions to your Primary Care Doctor, before beginning any changes in diet and daily routine.
You Can Improve Your Health
Rustam
RUSTAM, who lives in Russia, leads a busy life. In the past, he had some unhealthful habits but came to realize that he was paying a price for them. He stopped smoking and overindulging in alcohol. Still, long days in front of his computer left him feeling lethargic.
Although Rustam started work at eight oclock in the morning, he rarely felt fully awake until ten, and he was often sick. So he made an adjustment to his routine. The result? In the last seven years, I havent taken more than two sick days a year, he reports. I feel greatawake and alertand I enjoy life!
Ram, his wife, and their two small children live in Nepal. Sanitation is lacking in their neighborhood, and the area swarms with mosquitoes and flies. In the past, Ram and his family frequently suffered from respiratory problems as well as eye infections. They too made changes that greatly improved their health.
Take Control of Your Health!
Whether they are rich or poor, many people fail to see the link between their habits and their health. They may regard enjoying good health as a matter of chance or as something over which they have little control. Such a fatalistic view holds many back from improving their health and leading a more productive life.
In reality, whatever your financial circumstances, there are basic steps you can take to protect and greatly improve your own health and that of your family. Is doing so worth the effort? By all means! You can increase the quality of your life and avoid needlessly shortening it.
Ram and his family obtain clean drinking water
By word and example, parents can teach their children to form good habits, resulting in better health. The extra time and expense involved will be repaid in reduced suffering, less time lost to illness, and less money spent on medical bills. As the saying goes, An ounce of prevention is worth a pound of cure.
In the following articles, we will consider five basic keys that have helped Rustam, Ram, and many others. These keys can help you too!
Secret #1: When you give, you are likely to get back!
People will notice that you are generous. As a result, theyll probably be generous to you.
Practice giving, and people will give to you. . . . With the measure that you are measuring out, they will measure out to you in return.
The way you treat others is the way you will be treated.
Secret #2: When you help others, you help yourself!
Doing good things for others boosts your self-respect and makes you feel the satisfaction that comes from giving. The Bible puts it this way:
There is more happiness in giving than there is in receiving.
When you spread a feast, invite poor people, crippled, lame, blind; and you will be happy, because they have nothing with which to repay you.
Young people who care
Young people who care about others are everywhere! Consider some examples.
Sometimes when I just want to sit on the couch and watch TV, I think about my mom and dad, who are working, and how tired they are going to be when they come home. So I get up and wash the dishes, vacuum, and dust. Ill also make a pot of coffee because my parents love coffee. When my mom gets home, she says, Oh, it looks so nice in here! And it smells good too. Thank you so much, Sweetie! It always makes me feel good to do something nice like that for my mom and dad.Casey.
My parents have always supported me, providing me with everything I need. So when they had a major problem with the car last year, I wrote a check to have it repaired, even though it was a large part of my savings. Of course, they tried to refuse my offer, but I wouldnt take no for an answer. My parents deserve so much more than even that. And it felt great to be generous and give them something.Holly.
Did you know? Many young people among Jehovahs Witnesses have experienced the joy of helping others through their Bible education work. Some have even moved to a foreign land where there is a need for Bible teachers.
I moved from the United States to Mexico to help teach the Bible. Sometimes its difficult to be generous with money or things because I dont really have much to give. But Ive found that when I give of my time and energy in the ministry, thats more appreciated than just giving materially.Evan.
How can I help others?
Would you like to experience the joy that comes from helping others? Here are just a few suggestions.
To help your family:
Vacuum, do the dishes, or clean a roomwithout being asked
Cook a meal
Write a card of appreciation to your parents
Help a sibling with his or her schoolwork
To help those outside your family:
Send a card to someone who is not well
Do yard work for an elderly neighbor
Visit someone who is housebound
Buy a gift for someone who is going through a difficult time
Tip: Try to come up with a few ideas of your own. Then make it your goal to help out one person this week. You might be surprised how good you will feel!
When you help others, you end up happy. You feel that you really accomplished something, and you see that others appreciate it. You may have had fun doing italthough at first you didnt think you would. What you did may not even feel like a sacrifice, because in the end you gained so much.Alana.
"Remember..Research is the key to your cure!"
Patient meeting and the ASH convention
Wednesday - December 10, 2014 @ 10:30:00
Patient meeting and the ASH convention
The APF just came back from the 56th ASH Annual Meeting, which was held in San Francisco, CA. More than 20,000 hematologists and health professionals in the field were in attendance. The APF educated physicians, professionals and everyone interested.
Also, in a few short months, the APF hosted four patient education meetings. Our last meeting happened last week in conjunction with the ASH convention. The patients had a unique opportunity to meet and hear the presentations given by the porphyria experts: Dr. Bissell, Dr. Phillips and our Protect the Future trainee, Dr. Bruce Wang.
We all thank the experts for the donating their time and giving wonderful presentations! We also thank everyone: patients, their family members and friends who attended. We are looking forward to seeing you on our upcoming meetings!
HealthWell Foundation
We would like to remind you about the HealthWell Foundation, that assists patients living with chronic and life-altering illnesses in paying their share of prescription drug copayments, deductibles, and health insurance premiums.
Since 2006, the HealthWell Foundation has provided copayment and premium assistance to eligible acute porphyria patients. Through the fully-automated grants process, patients are able to determine eligibility and apply online. Patients also have the option to contact the hotline at 800-675-8416 to speak directly with a HealthWell representative. Learn more about the HealthWell Foundation:www.HealthWellFoundation.org
"Remember..Research is the key to your cure!"
APF Accomplishments
Tuesday - December 9, 2014 @ 13:38:32
APF Accomplishments
Since 1982, the American Porphyria Foundation has been a vocal advocate for the health and healthcare of people struggling with porphyria. We played a major role in getting legislation passed to recognize the needs of rare disease communities, and under the direction of our Scientific Advisory Board, the APF has built a comprehensive library on the eight types of porphyria, their diagnosis and treatment.
We have fostered a network of patients who share information and support, made research grants to support ongoing clinical and scientific study of the porphyrias, and promoted the growth of porphyria patient societies in Europe, Asia and the Americas.
Today, we continue to pursue the mission of disseminating accurate information about the porphyrias while working to ensure that these diseases remain an area of active scientific and clinical study until we have our cure.
Since its founding, the APF has:
Joined with other rare disease advocates to push for founding of the Office of Rare Diseases at the National Institutes of Health. In 1983, Executive Director Desiree Lyon joined with Woody Guthrie's widow Marjorie and other rare disease advocates to urge the FDA to establish an Office of Rare Diseases to address the needs of rare disease patient communities for research and new treatments.
Helped secure FDA approval for Panhematin as the first orphan drug. In 1983 President Ronald Reagan signed the Orphan Drug Act into law, and the FDA approved Panhematin for sale. Panhematin became the first (and still only) life-saving treatment for these deadly diseases available in the United States.
Worked hand-in-hand with the top porphyria experts in the United States to publish accurate medical literature accessible to patients. The APF Scientific Advisory Board is comprised of doctors & scientists each with at least 30 years experience in the diagnosis and treatment of porphyria. This knowledge-base has been central to our mission of disseminating reliable information to patients and their physicians. Much of this information is available here on our website in both English and Portuguese, with more detailed resources for physicians and APF members available for order from our office.
Established a Protect the Future fund to endow training for a new generation of porphyria specialists. The men and women who have so generously given their time, compassion and expertise for the past 25 years are rapidly approaching retirement, and some have already left clinical practice or academic medicine entirely. In 2005, thanks to the generosity of our members, the APF began making grants to train young doctors in the diagnosis and treatment of porphyria. These young doctors are working and studying with long-time experts, seeing patients, and doing research, gaining the expertise they will need to care for the U.S. porphyria patient population for decades to come.
"Remember..Research is the key to your cure!"
HealthWell Foundation assists patients!
Tuesday - December 9, 2014 @ 11:45:23
FYI: HealthWell Foundation assists patients living with chronic and life-altering illnesses in paying their share of prescription drug copayments, deductibles, and health insurance premiums. Since 2006, the HealthWell Foundation has provided copayment and premium assistance to eligible acute porphyria patients. Through the fully-automated grants process, patients are able to determine eligibility and apply online. Patients also have the option to contact the hotline at 800-675-8416 to speak directly with a HealthWell representative. Learn more about the HealthWell Foundation: www.HealthWellFoundation.org
"How do you say 'thank you' to an organization that gives you life, peace of mind, and a future?" Cliff (Faith, NC)
HEALTHWELLFOUNDATION.ORG
"Remember..Research is the key to your cure!"
Keys to a Happy Life
Thursday - December 4, 2014 @ 10:30:02
Keys to a Happy Life
Ill be happy when I get married and have children.
Ill be happy when I have my own home.
Ill be happy when I land that job.
Ill be happy when . . .
HAVE you felt like that? And when you attained your goal or acquired the desired item, did your happiness last? Or did it begin to fade? To be sure, reaching a goal or obtaining something we have desired can make us happy, but that kind of happiness can be fleeting. Lasting happiness is not based solely on achievements or acquisitions. Rather, like good physical health, true happiness depends on a variety of factors.
Each of us is unique. What makes you happy may not make someone else happy. Additionally, we change as we grow older. Yet, evidence suggests that some things are more consistently associated with happiness. For example, genuine happiness is linked to finding contentment, avoiding envy, cultivating love for others, and building mental and emotional resilience. Let us see why.
1. FIND CONTENTMENT
Money is a protection, observed a wise student of human nature. But he also wrote: A lover of silver will never be satisfied with silver, nor a lover of wealth with income. This too is futility.His point? While we may need money to survive, we should avoid greed, for it is insatiable! The writer, King Solomon of ancient Israel, actually experimented to see whether wealth and luxurious living fostered true happiness. I did not deny myself anything that I desired, he wrote. I did not withhold from my heart any sort of pleasure.
Having amassed great wealth, Solomon built grand houses, made beautiful parks and pools, and acquired many servants. Whatever he wanted, he got. What did he learn? His experiment made him somewhat happy, but not for long. I saw that everything was futile, he observed. There was nothing of real value. He even came to hate life! Yes, Solomon learned that a life of self-indulgence ultimately leaves one feeling empty and unfulfilled.*
Do modern studies agree with that ancient wisdom? An article published in the Journal of Happiness Studies observed that after ones basic needs are satisfied, additional income does little to advance ones subjective well-being. Indeed, findings show that increased material consumption, especially at the cost of moral and spiritual values, can erode happiness.
PRINCIPLE: Let your way of life be free of the love of money, while you are content with the present things.
2. AVOID ENVY
Envy is defined as the painful or resentful awareness of an advantage enjoyed by another, accompanied by a desire to possess the same advantage. Like a malignant growth, envy can take over ones life and destroy happiness. How might envy take root? How can we recognize this trait? And how can we combat it?
The Encyclopedia of Social Psychology observes that people tend to envy their equals, perhaps in age, experience, or social background. A salesman, for instance, might not envy a famous movie star. But he may envy a more successful fellow salesman.
To illustrate: Certain high officials in ancient Persia envied, not the king, but a brilliant fellow official named Daniel. Indicating how unhappy those men must have been, they even schemed to kill Daniel! But the plot failed. It is important to recognize the hostile nature of envy, says the aforementioned encyclopedia. This hostility explains why envy is associated with so many historical cases of aggression.*
Envy can poison a persons capacity to enjoy the good things in life
How can you recognize envy? Ask yourself: Do a peers successes delight or deflate me? If a sibling, talented classmate, or fellow worker fails in some way, am I sad or gleeful? If you answered deflate me and gleeful, you may be nurturing envy. Envy, says the Encyclopedia of Social Psychology, can poison a persons capacity to enjoy the good things in life and snuff out feelings of gratitude for lifes many gifts. . . . Such tendencies are hardly conducive to happiness.
We combat envy by cultivating genuine humility and modesty, which enables us to appreciate and value the abilities and good qualities of others. Do nothing out of contentiousness or out of egotism, the Bible says, but with humility consider others superior to you.
PRINCIPLE: Let us not become egotistical, stirring up competition with one another, envying one another.
3. CULTIVATE LOVE FOR PEOPLE
Peoples feelings about their relationships have a bigger impact on their overall satisfaction with their lives than do their job, income, community, or even physical health, says the book Social Psychology.Simply put, in order to be truly happy, humans need to give and receive love. If I . . . do not have love, I am nothing, said a Bible writer.
It is never too late to cultivate love. For example, Vanessa had an abusive, alcoholic father. When she was 14 years old, she ran away from home and stayed in foster homes, as well as in one bad shelter where she remembers begging God for help. Then, perhaps as an answer to her prayers, she was placed with a family who lived by the Bible principle that love is patient and kind. That environment, coupled with what she was learning from her own study of the Bible, helped Vanessa to heal emotionally and progress mentally. At school, my grades went from Ds and Fs to As and Bs, she said.
Vanessa still bears emotional scars. Nevertheless, she is now a happily married mother of two girls.
PRINCIPLE: Clothe yourselves with love, for it is a perfect bond of union.
4. BUILD RESILIENCE
Who has a problem-free life? As the Bible says, there is a time to weep and a time to wail. Resilience helps us to get through such times, to bounce back from adversity. Consider Carol and Mildred.
Carol has spinal degenerative disease, diabetes, sleep apnea, and macular degeneration that has blinded her left eye. Yet, she says: I try not to feel discouraged for too long. I allow myself my pity party. But then I set my feelings aside and thank God for what I am still able to do, especially for other people.
Mildred too has a number of ailments, including arthritis, breast cancer, and diabetes. But like Carol, she tries not to focus on her problems. I have learned to love people and to comfort others during their illness, which helps me as well, she writes. In fact, I find that when I am comforting others, I am not worrying about myself.
Although both women are interested in receiving good medical care, they focus, not on their physical health, but on their attitude and how they use their time. As a result, they have an inner joy that no one can take away from them. Additionally, they are much loved by others and are an inspiration to people who are going through various trials.
"Remember..Research is the key to your cure!"
ER KITS FOR ACUTE PORPHYRIAS & EPP KITS
Wednesday - December 3, 2014 @ 12:15:28
ER & EPP Kits
ER Kit for the Acute Porphyrias
For the Emergency Room & Primary Care Physician (Acute porphyrias only)
â?¢ $30.00 for US residents
Essential documents and ER instructions you shouldn't be without! The Kit includes:
Safe/Unsafe Drug List. The next time the ER staff asks you if you're allergic to any meds, hand them this and they'll know for sure.
ER Information Form. At-a-glance sheet for ER personnel to record your essential admission information.
Porphyria Test Results Form.
Information ER physicians need to know. To accurately and confidently administer heme therapy.
Instructions for Shipping Samples for Porphyria Testing. Includes information on processing and shipping samples, an order form for testing, and a primer on lab testing for porhyrias.
Review article: Recommendations for the Diagnosis and Treatment of the Acute Porphyrias (reprinted from Annals of Internal Medicine, March 2005). This article reviews the current medical treatment guidelines for the acute porphyrias. Especially vital for physicians unfamiliar to porphyria you're likely to encounter in the ER. Good reading for your primary care doctor too.
Order by calling the APF Office: Toll free: 1.866.APF.3635.
"Remember..Research is the key to your cure!"
EPP Kit
To help families and doctors manage EPP
â?¢ $30.00 for US residents
Essential education produced exclusively for EPP patients. The Kit includes:
EPP brochure and education. Important background information about EPP, management strategies, photosensitivity, and ways to avoid attacks.
ER Information Form. At-a-glance sheet for ER personnel to record your essential admission information.
List of leading APF EPP specialists and their contact information.
Sun Precautions catalog, including medical solutions for sun sensitive people.
Samples of light-protecting sun block and accompanying product information.
Order by calling the APF Office: Toll free: 1.866.APF.3635.
"Remember..Research is the key to your cure!"
APF TSHIRTS GETS YOUR TODAY
Tuesday - December 2, 2014 @ 10:30:00
We are pleased to announce that the official APF T-Shirts have arrived!
Our hope for the T-shirts is that you all will buy and wear them to help promote and raise questions about Porphyria and to raise funds for the Dr. Packets, pain Management docs, among many other publications we make available at no cost.
Amy Chapman is heading up the T-shirt project. There are also some copies ofPorphyria Live for sale. For information on how to order the T-Shirts and/or thePorphyria Live Video see below.
You can order a T-shirt and/or Porphyria Live DVD by sending an email order toporphyriaorders@gmail.com
I must have name, complete address, and phone number. Also include the Quantity of T-shirts and the size for each one. And include the quantity of the Porphyria Live Video.
To accept payment: One of two options I can accept Paypal VISA/MC only I must have full name on the card, account#, exp. date, 3 digit code on back of card CVV-
I will accept money orders and personal checks. You must have name/address/phone # on them.
*The APF will not take orders or calls about T-shirts*
Once I receive the order I will ship out your product.
All products will be shipped out Priority mail with tracking. Each person also will receive a receipt with T-shirts/DVD.
T-shirts come in the following sizes S, M, L XL, 2 XL, 3 XL they are 100% cotton, heavy not thin, and very durable. No other sizes.
The price per T-shirts is $19.00/shirt. This covers the shirt, shipping and tracking, and priority mail for US orders. International orders: I will have to consult first with the post office for shipping rates.
The price of the Porphyria Live DVD is $10.00 each. Shipping is included in the price for US orders. International orders: I will have to consult first with the post office for shipping rates.
100% of all funds received will go back to the APF
Biology of Emotion
Monday - December 1, 2014 @ 18:42:33
The biology of emotionand what it may teach us about helping people to live longer
Could a sunny outlook mean fewer colds and less heart disease?
Do hope and curiosity somehow protect against hypertension, diabetes, and respiratory tract infections?
Do happier people live longerand, if so, why?
These are the kinds of questions that researchers are asking as they explore a newand sometimes controversialavenue of public health: documenting and understanding the link between positive emotions and good health.
A vast scientific literature has detailed how negative emotions harm the body. Serious, sustained stress or fear can alter biological systems in a way that, over time, adds up to wear and tear and, eventually, illnesses such as heart disease, stroke, and diabetes. Chronic anger and anxiety can disrupt cardiac function by changing the hearts electrical stability, hastening atherosclerosis, and increasing systemic inflammation.
Jack P. Shonkoff, Julius B. Richmond FAMRI Professor of Child Health and Development at HSPH and at the Harvard Graduate School of Education, and Professor of Pediatrics at Harvard Medical School, explains that early childhood toxic stressthe sustained activation of the bodys stress response system resulting from such early life experiences as chronic neglect, exposure to violence, or living alone with a parent suffering severe mental illnesshas harmful effects on the brain and other organ systems. Among these effects is a hair-trigger physiological response to stress, which can lead to a faster heart rate, higher blood pressure, and a jump in stress hormones.
Focusing on the positive
But negative emotions are only one-half of the equation, says Laura Kubzansky, HSPH associate professor of society, human development, and health. It looks like there is a benefit of positive mental health that goes beyond the fact that youre not depressed. What that is is still a mystery. But when we understand the set of processes involved, we will have much more insight into how health works.
Kubzansky is at the forefront of such research. In a 2007 study that followed more than 6,000 men and women aged 25 to 74 for 20 years, for example, she found that emotional vitalitya sense of enthusiasm, of hopefulness, of engagement in life, and the ability to face lifes stresses with emotional balanceappears to reduce the risk of coronary heart disease. The protective effect was distinct and measurable, even when taking into account such wholesome behaviors as not smoking and regular exercise.
Keys to a happier, healthier life
Research suggests that certain personal attributeswhether inborn or shaped by positive life circumstanceshelp some people avoid or healthfully manage diseases such as heart attacks, strokes, diabetes, and depression. These include:
Emotional vitality: a sense of enthusiasm, hopefulness, engagement
Optimism: the perspective that good things will happen, and that ones actions account for the good things that occur in life
Supportive networks of family and friends
Being good at self-regulation, i.e. bouncing back from stressful challenges and knowing that things will eventually look up again; choosing healthy behaviors such as physical activity and eating well; and avoiding risky behaviors such as unsafe sex, drinking alcohol to excess, and regular overeating
Among dozens of published papers, Kubzansky has shown that children who are able to stay focused on a task and have a more positive outlook at age 7 report better general health and fewer illnesses 30 years later. She has found that optimism cuts the risk of coronary heart disease by half.
Kubzanskys methods illustrate the creativity needed to do research at the novel intersection of experimental psychology and public health. In the emotional vitality study, for example, she used information that had originally been collected in the massive National Health and Nutrition Examination Survey, or NHANES, an ongoing program that assesses the health and nutritional status of adults and children in the United States. Starting with the NHANES measure known as the General Well-Being Schedule, Kubzansky crafted an adaptation that instead reflected emotional vitality, and then scientifically validated her new measure. Her research has also drawn on preexisting data from the Veterans Administration Normative Aging Study, the National Collaborative Perinatal Project, and other decades-long prospective studies.
In essence, Kubzansky is leveraging gold-standard epidemiological methods to ask new public health questions. Im being opportunistic, she says. I dont want to wait 30 years for an answer.
Laura Kubzansky doesnt want her research on positive emotions to be used to blame people for getting sick.
State of mind=state of body
Some public health professionals contend that the apparent beneficial effects of positive emotions do not stem from anything intrinsically protective in upbeat mind states, but rather from the fact that positive emotions mark the absence of negative moods and self-destructive habits. Kubzansky and others disagree. They believe that there is more to the phenomenonand that scientists are only beginning to glean the possible biological, behavioral, and cognitive mechanisms.
Previous work supports this contention. In 1979, Lisa Berkman, director of the Harvard Center for Population and Development Studies, co-authored a seminal study of nearly 7,000 adults in Alameda County, California. Participants who reported fewer social ties at the beginning of the survey were more than twice as likely to die over the nine-year follow-up period, an effect unrelated to behaviors such as smoking, drinking, and physical activity. Social ties included marriage, contact with friends and relatives, organizational and church membership.
A happiness policy?
If scientists proved unequivocally that positive moods improve health, would policymakers act? Some observe that, in the U.S., we define happiness in economic termsthe pursuit of material goods. They contend that even an avalanche of research showing that emotional well-being protected health would have no traction in the policy world. Many Americans believe, after all, that people are responsible for their own lives.
But others see direct policy implications. In public health, its important to understand how we can translate guidelines into behavior, notes Eric Rimm, HSPH associate professor in the Departments of Epidemiology and Nutrition and director of the program in cardiovascular epidemiology. Seventy to 80 percent of heart attacks in this country occur not because of genetics nor through some mysterious causative factors. Its through lifestyle choices people make: diet, smoking, exercise. Why are people choosing to do these things? Does mood come into play?
The toll of toxic stress goes far beyond poorer health for individualspopulation-wide, the cost of chronic diseases related to these conditions is enormous. Imagine if we could enact a policy that would reduce heart disease by just 1 percent, suggests Shonkoff. How many billions of dollars and how many lives would that save? Now what if we could also reduce diabeteswhich is growing in epidemic proportionsand even stroke? The point, Shonkoff says, is that society pays a considerable cost for treating chronic diseases in adulthood, and reducing toxic stress early in life may actually get out in front of these diseases to prevent them.
A stress test of a different sort
In Laura Kubzanskys Society and Health Psychophysiology Labmodest and neutral as the blandest therapy officevolunteers responding to a Craigslist ad for a research study are in for a surprise. First, they are rigged up to a tangle of electrodes, which continuously monitor heart rate, cardiac output, and other measures. A cuff measures blood pressure. Test tube spittoons collect saliva to be tested for stress-related hormones such as cortisol and DHEA.
Then comes the fun. The volunteers must give a five-minute improvised speech on a knotty topic, such as the gasoline tax or welfare reform. Next, they are asked to perform a complicated math exercise, such as counting backward from 2,027 by 13swiftly, and with a loud buzzer signaling a faulty calculation, after which they must start over. Two lab assistants occasionally toss off challenging remarks. And the nerve-wracking performance is videotaped.
The experiment gauges the potentially beneficial effects on heart health of oxytocin, a natural hormone that acts as a neurotransmitter and is thought to be both a cause and effect of positive social relationships. Kubzansky manipulates three variables: oxytocin levels, stress, and social support. She administers oxytocina prescription drug that cannot be purchased in a conventional drug storethrough a nasal spray. She induces stress by asking the volunteers to publicly perform. And she creates social support by having some participants bring an encouraging friend with them, while others are instructed to show up alone.
The experiment is designed to answer several questions: How do the stress-reduction benefits of oxytocin compare to those of social support? Does oxytocin offer the same protective effects in women as in men? Most important, does oxytocin tamp down the damage from toxic stress hormones that course through the body under duress, causing corrosive effects over time?
Kubzansky concedes that psychological states such as anxiety or depressionor happiness and optimismare forged by both nature and nurture. They are 4050 percent heritable, which means you may be born with the genetic predisposition. But this also suggests there is a lot of room to maneuver. Her dream prevention: instill emotional and social competence in childrenwith the help of parents, teachers, pediatricians, sports coaches, school counselors, mental health professionals, and policy makersthat would help confer not only good mental health but also physical resilience for a lifetime.
Even in adulthood, its not too late to cultivate these qualities, she says. While psychotherapy or meditation may work for one person, someone else may prefer faith-based activities, sports, or simply spending time with friends. My guess is that many of the people who are chronically distressed never figured out how to come back from a bad experience, focus on something different, or change their perspective.
Mapping happiness
Drawing on recently compiled data from a nationally representative study of older adults, Kubzansky is beginning to map what she calls the social distribution of well-being. She is working with information collected on participants sense of meaning and purpose, life satisfaction, and positive mood. By tracking how these measures and health fall out across traditional demographic categories such as race and ethnicity, education, income, gender, and other categories, she hopes to understand in a fine-grained way what it is about certain social environments that confers better frame of mind and better physical health.
The last thing she wants, Kubzansky says, is for her research to be used to blame people for not simply being happierand therefore healthier. Referring to one of her first major studies, which found a link between worry and heart disease, she said: My biggest fear was that journalists would pick it up and the headlines would be, Dont worry, be happy. Thats useless. Not everyone lives in an environment where you can turn off worry. When you take this research out of the social context, it has the potential to be a slippery slope for victim blaming.
Being in the moment
Kubzansky, who is married and has two young children, says her work has made her think a lot more about finding balance in her own life. To that end, she says, she recently signed up for a yoga class. She also plays classical pianoboth chamber music with friends and solo hours at the keyboard for her own enjoyment.
When Im playing piano, she explains, Im in the moment. Im not worrying or thinking or trying to work out a problem. Im just doing this thing that takes all my attention.
That insight is also at the center of her research. Everyone needs to find a way to be in the moment, she says, to find a restorative state that allows them to put down their burdens.
"Remember..Research is the key to your cure!"
Global Genes Meeting Dec 9th
Wednesday - November 19, 2014 @ 10:30:01
February 28th. 2015, marks World RARE Disease Day, and it is less than 3 months away! Are you ready to raise awareness for your rare disease?
This year we are hosting a webinar on December 9, 2014, that will explore ideas to create awareness for your specific rare disease as well as for the entire rare disease community!
Topics include:
Hosting your own Rare Disease Day events
Schools
Businesses
General Community
Reaching out to the media to share your story
Advocating in Washington D.C. during Rare Disease Week â?¦ and more!
The World Rare Disease Day 2015 Planning Webinar: Ideas and Suggestions to Host Your Own World Rare Disease Day Event, will be held on December 9, 2014 at 11:00 am PT. This 60 minute session has limited space and will fill up fast!
Registration is FREE, register today!
Finding a Doctor
Monday - November 17, 2014 @ 13:57:07
Finding a Doctor
The American Porphyria Foundation promotes comprehensive care necessary for treating individuals with Porphyria. This section of our website offers suggestions for finding a local doctor who can manage your Porphyria, options for having your doctor consult a Porphyria specialist, and information on arranging a visit to a Porphyria clinic.
Because Porphyria is so rare, few physicians have experience treating patients with the disease. Most patients are in fact treated But the APF can help by putting your doctor's office in touch with a Porphyria specialist who can offer guidance on your care.
For those who need a diagnosis, you may be able to obtain a consultation at Porphyria clinic. Call the APF to reach a porphyria expert at a porphyria center. The APF office will also guide you to doctors who are not experts but are knowledgeable about porphyria. You may be asked to send your blood, urine, and stool samples for evaluation in advance of a clinic appointment. Especially if you plan to travel for a consultation, it is a good idea to call ahead and explain that you would like to be evaluated for Porphyria so that you can be sure you have done any necessary testing in advance. If local video conferencing facilities are available, telemedicine consultation with a Porphyria expert is also available.
Regardless of your situation, it is best to establish a good relationship with a doctor in your area. Developing a relationship with a primary care physician takes time and can be frustrating, particularly when you have difficulty finding a doctor who will manage your care. In this section of the website, you will also find Tips for the Doctor's Office that may help.
If you're having trouble finding a local doctor, the following organizations' doctor finder or physician referral services could be helpful. The APF does not recommend or endorse the doctors listed through these sites.
If you would like to read about supporting programs to ensure the quality of specialists in the field of porphyria, please see our Protect Our Future campaign information.
"Remember..Research is the key to your cure!"
Reminders for all Porphyria Members
Monday - November 10, 2014 @ 10:30:02
Just a reminder about our upcoming patient educational meeting in San Francisco. It will be held at Hyatt Regency Five Embarcadero Center on December 7, from 4 pm to 6 pm. You will have an unique opportunity to meet with porphyria experts Dr. Bissell and Dr. Wang and meet with fellow patients. Everyone is welcome to participate.
Please stay safe & sound this winter. Most of the United States is covered in Storms. Remember if you become in any emergency please contact 911 and your local authorities. You may also want to keep a list of current medications, allergies and medical conditions that you may have handy and tell friends or family to bring this along.
If you would like to receive a patient packet or a comprehensive Dr Kit from the APF please give them a call. Please have your name address for you and your medical care team available so that they can send it out to you. 1-866-APF-3635. Happy Winter days to you all.
"Remember..Research is the key to your cure!"
Tips for the doctor's office
Friday - November 7, 2014 @ 10:30:02
Tips for the doctor's office
Make Lists You may not always need to share all of your information with every doctor you see but the following items are particularly important: A list of all of your medications and needed refills, a summary of your medical history, a list of your recent tests, a list of your questions, concerns and new information, forms your doctor needs to address,
Plan Ahead For Your Doctor Visit Prepare your questions and a list of your symptoms, ( For example, racing heart, blisters, etc) Be concise. When you schedule your appointment, ask if you should have test results or other medical records sent to the doctors office before your visit. Nothing is worse than rescheduling for new tests you could have taken earlier or not had with you.
At Your Visit Be on time. Give and expect respect. Bring your lists and tell the doctor what you want to discuss and your goals for the visit. Be as brief as possible. Communication is an especially important skill. Make every word count because the doctor may only have 15 minutes to spend with you.
Be sure you understand what the doctor is advising you. If not, ask questions until you understand. If there is not enough time for all of your questions: Ask for handouts and brochures that will give you more information or schedule another visit.
You and your doctor may have different goals for the visit. For example, your doctor may want to just check your blood pressure, while you may have worries about possible surgery.
Many things can get in the way of helpful communication; emotions, communication style, different goals and lack of time all work against us. When emotions are high, logic is low. If you find that your emotions are interfering with your visit, explain this to your doctor. Try taking a moment to reflect on what you want to say and try again.
Lastly, you may feel that you know more about certain aspects of porphyria than your physician. Major medical journal articles are usually best accepted than internet articles.
After the Visit Often patients have questions they forgot to ask. If it is urgent, call the office right away. Otherwise, check the educational materials to see if the question can be answered there.
If you still dont have the answer, call your doctor. However, it is best to have the question clearly written. Be aware that the doctor may not be able to answer your call until the end of the day, but a nurse or physicians assistant may be able to help earlier.
"Remember..Research is the key to your cure!"
Caretaker Support Forum
Wednesday - November 5, 2014 @ 10:30:00
Caretaker Support Forum
New APF Caretaker Support Forum
Warren Hudson, who serves on the APF Board of Directors, has agreed to head our Caretaker Support Forum for spouses or partners who help their loved one cope with porphyria. To read more about Warrens story as a caretaker for a loved one with AIP click here.
The Caregiver Support Group strives to provide a forum to ask questions, share advice, experiences and provide a sounding board for those going through similar circumstances.
Our goal is to eventually provide multiple resources to assist caregivers in their day-to-day lives. This is your community and your input will help shape this service. Whether you are a spouse, partner, relative or friend of a porphyria patient, we want to hear from you. Contact the American Porphyria Foundation or email us at apfcaregiver@aol.com for more information.
We respectfully request that only caregivers of patients in the active process of diagnosis or with a diagnosis of a porphyria participate in this group.
"Remember..Research is the key to your cure!"
When To See The Doctor
Tuesday - November 4, 2014 @ 10:30:02
Routine visits:
Generally, everyone should routinely see their doctor, dentist, and eye doctor for preventive care. Women should routinely see their primary care doctor or gynecologist for gynecologic examinations. People can obtain a schedule of what type of care is required and how often visits are needed from their primary care doctor. Usually, infants and older people need more frequent preventive visits, but frequency also depends on a person's health conditions. For example, a person with diabetes or a heart disorder (or risk factors for them) may need to have checkups relatively frequently.
Visits for a problem:
When symptoms or other medical problems develop between preventive visits, people may be unsure whether they need to see a doctor. Many symptoms and problems can be handled at home. For example, most routine colds do not require a doctor's attention. Many small cuts and abrasions can be handled by first cleaning them with mild soap and water, then applying an antibiotic ointment and a protective covering (see First-Aid Treatment).
People with certain disorders should see a doctor sooner rather than later when new symptoms develop. For example, if people with a chronic lung disorder (such as asthma or chronic obstructive pulmonary disease) begin to have difficulty breathing or if people with a weakened immune system get a fever, they should see a doctor promptly. The immune system may be weakened by diabetes, human immunodeficiency virus (HIV) infection, use of chemotherapy drugs, or other conditions.
When unsure about the need to see a doctor or other practitioner, people can sometimes call their primary care doctor for guidance. Some doctors can be contacted by e-mail for nonemergency questions. Others prefer to be contacted by telephone. Doctors cannot give set guidelines for when to see a doctor and when it is unnecessary because symptoms with the same cause vary too much and symptoms with different causes overlap too much. However, some problems clearly require a call to a health care practitioner.
Symptoms of dehydration (such as very dry mouth and armpits, confusion, and decreased urination), particularly in children and older people
Digestive problems
A feeling that food is stuck in the throat
Development of or change in heartburn, particularly during exercise
Frequent heartburn, belching, or regurgitation
Persistent or severe abdominal pain
Persistent nausea
General problems
Symptoms that prevent participation in usual activities, particularly new or worsened shortness of breath with exertion
Unexplained weight loss
Dizziness or an about-to-faint feeling
Persistent fatigue
Sweating, especially heavy or cold sweats
Headaches
Severe headache that peaks in intensity within seconds
Memory loss or confusion
Blurred or double vision
Slurred speech
Loss of balance or dizziness
Seizures
Numbness or weakness in the arms, legs, or face
Nausea
Heart problems
Rapid or galloping heartbeats (palpitations)
Chest pain
Leg problems
Pain in the calves that worsens when walking
Swelling in the ankles or legs
Menstrual problems
No periods by age 16
Sudden stopping of periods
A period that lasts much longer than usual or is excessively heavy
A sudden feeling of illness while using tampons
Severe or disabling cramps
Rash
Fever of 100.4° F (38° C) or above
A rash that is painful, involves swelling, or oozes
Sinusitis
Swelling or redness in or around an eye
Problems with vision
Vomiting
Moderate or severe abdominal pain
Symptoms of dehydration, particularly in children and older people
Green, black, or bloody vomit
*The list of problems and the reasons to call a doctor are only a small sample.
Visits to the emergency department:
In general, true emergencies should be handled by calling 911 or the local emergency service to provide ambulance service to the nearest hospital. However, deciding what qualifies as an emergency is sometimes difficult because symptoms vary greatly. Learning as much as possible about symptoms of life-threatening disorders (such as heart attack and stroke) in advance is useful, and good judgment is often required. If the problem seems possibly life threatening, the emergency department is the place to go. The following examples clearly require a visit to the emergency department:
Burns that are open, char, or blister the skin; that result from inhalation; that cover a large area; or that are on the hands, face, feet, or genitals
Severe injury (as in a motor vehicle accident)
Poisoning that causes symptoms (if symptoms are minor or do not develop, the poison control center can be called first at 800-222-1222 for advice)
Vomiting blood or coughing up a relatively large amount of blood (more than a few streaks in sputum)
Sudden, severe worsening of a serious chronic disorder, such as asthma or diabetes
Going to the emergency department for less serious problems may be appropriate when the primary care doctor is unavailable, such as during weekends or during the night. In some health insurance plans, calling the primary care doctor first is required in order to be reimbursed for a visit to the emergency department, unless symptoms suggest a life-threatening disorder. People should know the requirements of their insurance plan before an emergency develops.
"Remember.Research is the key to your cure!"
Hospital Patients Rarely Wash Their Hands, May Spread Disease
Sunday - November 2, 2014 @ 12:46:00
Hospital Patients Rarely Wash Their Hands, May Spread Disease
NEW YORK (Reuters Health) - Hospitalized patients who don't wash their hands may be contributing to the spread of hospital-acquired infections, say Canadian researchers.
After tracking hundreds of patients in a transplant ward for nearly a year, the study team found that patients washed their hands after less than a third of bathroom visits, and washing or hand-sanitizer use happened only rarely after patients entered or left a room.
"We know that certain infections can be spread on people's hands, and hand washing is an important way to prevent those infections," said the study's lead author, Dr. Jocelyn Srigley, associate medical director of infection prevention and control at Hamilton Health Sciences in Hamilton, Ontario.
The role of healthcare workers in transferring infectious microbes from place to place and person to person in hospitals has been well-studied, and staff are trained to take measures to avoid spreading infections.
But just two previous studies have looked at the potential for patients to spread infections in hospitals, to others and themselves, Srigley and her colleagues wrote online October 2 in Infection Control and Hospital Epidemiology.
The Canadian study team tracked 279 adult patients in a multiorgan transplant ward using tags attached to hospital ID bracelets that sent out ultrasound signals. Wireless receivers were installed throughout the ward to pick up the signals and track each patient's location. The system also detected every time a soap or hand sanitizer dispenser was used.
They found that patients washed their hands about 30% of the time during bathroom visits, 40% of the time during mealtimes, 3% of the time while using kitchens on the wards, 3% of the time when entering their own rooms and 7% when exiting their room.
Women washed their hands more often than men, and were more likely than men to use soap when they did. All patients were more likely to wash their hands later in the day than in the morning.
Among 1,122 visits by 97 patients to the ward's two kitchens, only 3% involved hand hygiene and less than 1% involved soap.
The researchers point to a previous study that found requiring patients to disinfect their hands four times a day significantly reduced the number of respiratory and gastrointestinal disease outbreaks in a psychiatric ward.
Srigley noted that the ultrasound observation system was not perfect and one limitation was that it, "didn't know exactly what a patient was doing in the bathroom or when they were eating, so we don't know for sure that a patient should have washed their hands at that time."
In addition, "not all patients agreed to wear the system tags so we don't know if the ones who wore the tags are reflective of all patients," Srigley said.
Despite these limitations, the new technology used in the study eliminated the problem of people changing their behavior when they know they're being watched, said Dr. Yuen Kwok-yung, chair of Microbiology at the University of Hong Kong.
Kwok-yung told Reuters Health by email, "The findings will provide important data for the formulation of hand hygiene policy."
Srigley feels that hospitals should encourage patients to wash their hands at certain times, but she is not yet sure what would be the most effective method.
Possibilities include "putting up posters, having someone talk to patients about hand washing, providing hand sanitizer or alcohol wipes at the bedside, etc.," she said, adding that more research is necessary to determine the most effective method.
"The key message is that hand washing is an important way for people to protect themselves and prevent infections, whether they're in the hospital, at home, at work, or anywhere else," she said. "Especially with influenza season coming up soon, hand washing can help to keep us all healthy."
Dietary recommendations such as those listed above need to be translated into a diet plan for the individual. This is best done with the advice of a physician and the help of a dietitian. It is standard practice for a physician to prescribe a diet for an individual and for a dietitian to assist the patient in devising an individualized meal plan.
The following are some considerations in devising a dietary plan to achieve the goals of a dietary prescription.
Food intake should be consistent but should take into account lifestyle and physical activity.
The total daily energy intake should be distributed consistently with at least three regular meals each day.
Total energy intake must be individualized, because it varies with age, sex, and body weight and is affected by physical activity. It can also be greatly altered by illness. (Dietitians employ standard methods to estimate daily energy requirements. One of these methods is the Harris-Benedict equation.)
"Remember.Research is the key to your cure!"
5 Tips to 'Fall Back' From Daylight Saving Time 2014
Friday - October 31, 2014 @ 12:43:00
5 Tips to 'Fall Back' From Daylight Saving Time 2014
What's better than sleeping in on a Sunday? How about dodging the days-long consequences of rolling the clocks back this weekend?
Daylight Saving Time ends this weekend, which means that most residents in the country return to Standard Time at 2 a.m. Sunday. To do so, most people set the clocks back one hour Saturday night, before they hit the hay. This does not apply to you if you live in most of Arizona or Hawaii, where its always island time.
Sure, you'll gain an hour when Daylight Saving Time ends at 2 a.m. Sunday. But spending said hour in bed after sunrise will do you few favors in the long run, sleep experts say.
"It will hit you Sunday evening," said Dr. Yosef Krespi, director of the New York Head and Neck Institute's Center for Sleep Disorders. "But if your body clock is tuned to waking up with sunlight, you're going to benefit."
The body clock is a cluster of neurons deep inside the brain that generates the circadian rhythm, also known as the sleep-wake cycle. The cycle spans roughly 24 hours, but it's not precise.
"It needs a signal every day to reset it," said Dr. Alfred Lewy, director of Oregon Health and Science University's Sleep and Mood Disorders Laboratory in Portland.
The signal is sunlight, which shines in through the eyes and "corrects the cycle from approximately 24 hours to precisely 24 hours," said Lewy. But when the sleep-wake and light-dark cycles don't line up, people can feel out-of-sync, tired and grumpy.
With time, the body clock adjusts on its own. But here are a few ways to help it along.
1. Wake Up at a Normal Time Sunday Morning
Many people see the extra hour as an excuse to stay up later and sleep in longer. But sleeping through the Sunday morning sunlight can leave you feeling out of sorts for the start of the week, according to Krespi.
Instead, try to get up at the same time. Use the extra hour to go for a morning walk or make a hearty breakfast.
2. Eat Well and Exercise
Speaking of morning walks and breakfast, an active lifestyle and a healthy diet can work wonders for your sleep, according to Krespi. So grab your partner, your dog or your favorite playlist and get outside some fresh air and exercise. And dig into a breakfast packed with whole grains and protein to keep you energized through the 25-hour day.
3. Get a Good Night's Sleep Sunday Night
Still have extra time to kill Sunday? Use it to turn your bedroom into a full-fledged sleep zone.
"It has to be quiet, it has to be cool and it has to be dark," said Krespi. "Shut down your gadgets and turn away that alarm clock so you don't watch it tick."
Try to hit the sack at your usual bedtime, even though it will be dark one hour earlier.
4. Try a Low Dose of Melatonin
While light synchronizes the body clock in the morning, the hormone melatonin updates it at night. The exact function of the hormone, produced by the pea-size pineal gland in the middle of the brain, is unclear. But it can activate melatonin receptors on the neurons of the body clock, acting as a "chemical signal for darkness," Lewy said.
5. Know That Your Body Will Adjust It might take a few days to feel 100 percent normal, but fear not: Your body will adjust to the new light-dark cycle.
"Some people suffer more, some people less, it all depends," said Krespi, adding that falling back in November tends to be easier than springing forward in March. "On Monday morning, we'll appreciate that we're waking up for work or school with sunlight."
ABC News' Colleen Curry contributed to this report.
"Remember..Research is the key to your cure!"
History of Porphyria
Friday - October 31, 2014 @ 10:15:08
History of Porphyria
A Little Bit of History
1841 The term porphyrin comes from the Greek word, porphyus, meaning reddish-purple. It was first thought that the reddish color of blood was from iron. One early scientist performed an experiment to prove that this was not the case. He washed dried blood with concentrated sulfuric acid to free the iron. He then treated it with alcohol and the resulting iron free residue took on a reddish purple color though it contained no iron compound
1844 - Gerardus Johannes Mulder determined the chemical composition of this purplish, iron free substance, which he named "hematin," He also illustrated that hematin took up oxygen.
1867 - J.L.W. Thudichum described the beautiful spectrum and fluorescence of these red porphyrins after he published his first book on the analysis of urine.
1871 - Felix Hoppe-Seyler crystallized hematin and described its spectrum. He then demonstrated that the crystalline form differed from one animal species to another. Using his own newly constructed gas pump, he found that oxygen formed a loose, dissociable compound with hemoglobin, which he called "oxyhemoglobin." He renamed the iron free hematin hematoPorphyrin.
1874 - Dr. J.H. Schultz described a case of a 33-year-old male weaver who suffered from skin sensitivity, an enlarged spleen and reddish urine since he was an infant. He called the condition pempigus leprosus. His was most likely the first description of protoporphyria. Dr. Schultz was later credited with giving the disease its name.
1880- MacMunn described a patients dark reddish urine of a patient with symptoms of an attack of acute Porphyria.
1888 Shortly after, sulphonal was introduced as a hypnotic drug, Joseph Stokvis had a patient who, after taking the drug, excreated the tell-tale dark reddish urine typical of porphyria. The elderly woman then became paralyzed and died. Stokvis deducted that the pigment in her urine was the hematoporphyrin.
1889 - B.J.Stokvis published the first case and clinical description of acute hepatic porphyria.
1890 - George Harley (1829-96) studied a 27-year-old who also excreted reddish urine and an "unusual nerve disturbance after taking sulphonal.
1898 - T.McCall Anderson described two brothers had eruptions with burning and pruitus on the sun exposed areas of their skin so severe that they lost part of their ears and nose. They exhibited dark urine.
1898 - Alfred F. Harris demonstrated that the urine of both brothers contained the hematoporphyrin group.
1906 - Dr. Max Dobrschansky described the first case of acute porphyria after a patient had a barbiturate.
1911 - H. Gunther classified the diseases of porphyria, including congenital erythropoietic porphyria (CEP), which he called congenital hepatoporphyria, the rarest porphyria.
1913 - Dr. Friedrich Meyer Betz injected himself with hematoporphyrins to determine their photodynamic impact . He subjected himself to the sun and became so photosensitized that the extremely painful photosensitive effect lasted several months. The photos of Dr. Betz taken hours after he injected himself illustrated his badly swollen face. He was unrecognizable until the swelling decreased. The-experiment is used today in dermatology text books. View these photos on the APF website.
1915 - Hans Fischer studied one of H. Gunthers patients, Mr. Petry, who had the rare type of Porphyria, CEP. Using data from Mr. Petrys case, Fischer provided significant insight into the chemistry of porphyrins. He also found that uroporphyrins and coproporphyrins were different from hematoporphyrins and subsequently suggested that the hemato prefix be dropped.
1923 - A. E. Garrod credits H. Gunther with first recognizing that hematoporphyria was, in fact, an inherited metabolic problem in his manuscript, Inborn Errors of Metabolism. This is the first time the term "inborn errors" of metabolism had been ever used for a group of inherited metabolic disorders and the year CEP was first identified.
1937 Dr. Jan G. Waldenstrom suggested that the name of the diseases of porphyrin metablolism be porphyrias rather than Hematoporphyrias. Using Paul Ehrlichs aldehyde reagent, Waldenstorm identified 103 patients with acute porphyria by testing their urine and noting the red color. He discovered that asymptomatic family members of these patients also had the same reaction if they ingested even small amounts of barbiturates and sulphonal. 1949 -Dr. Cecil J. Watson identified cases in which there were excessive amounts of coproporphyrins in the stool and urine and suggested that this was caused by an inborn error of metabolism. He continued his research in the United States, where he and Dr. Samuel Schwartz discovered a fundamental test, , the "Watson-Schwartz tests".
1954 - R. Schmid, Samuel Schwartz and Cecil. J. Watson classified the porphyrias according to the porphyrin content in the bone marrow and liver.
1955 - A. Goldberg and H. Berger showed that individuals with an excess of coproporphyrin had another inherited form of porphyria that they called hereditary coproporphyria. HCP is an autosomal dominant form of hepatic porphyria that is very similar to acute intermittent porphyria, except that some patients develop skin photosensitivity, too.
1960's Earnest Porphyria research in Europe and US.
1961 - Heinrich Gustav Magnus described erythropoietic protoporphyria (EPP) as a genetic disorder arising from impaired activity of ferrochelatase, which is what adds iron to protoporphyrin to form heme.
1970-2011 - Drs. Anderson, Desnick, Bissell, Bloomer, Bonkovsky,, Bottomley, Dailey, Galbraith, ,Kappas, Kreimer-Birnbaum, Kushner, Lamon, Levere, Levine, Mathews-Roth, McDonaugh, Nichols, Peters, Sinclair, Pimstone, Pierach, Poh-Fitzpatrick, Sassa, Shedlofsky, Schmid, Sassa, Tishler, Tschudy, Watson,, Phillips and many others too numerous to name have furthered porphyria research and have bettered the health care of all of us with Porphyria. We owe all these people a great debt and a great measure of thanks.
2008-2011- The APF Protect the Future program to train the next generation of experts was initiated. We are grateful for the newest experts; Drs. Manisha Balwani, Lawrence Lui, Gagen Sood, Manish Thapar, Bradley Freilich, Charles Lourenco, Brenden McGuire, Bruce Wang, Majid Rizk, Guiherme Perini, Jennifer Guy, Jeffery Wickliffe,, Aswani Singal, Sajid Mittal,Charles Parker.
King George III and Porphyria
Some historians have speculated that King George III of England suffered from Variegate Porphyria. According to notes made by the physicians attending him at that time, he suffered symptoms similar to those seen in an acute attack of porphyria: abdominal pain, constipation, rashes, confusion and severe weakness in his limbs. They also mentioned that he had dark reddish urine during these sieges and that he was often "mad." The royal physicians were not permitted to conduct extensive physical examinations, so they had to depend on what King George told them about his condition.
On one occasion when he was having a relapse of his mental and physical symptoms, Parliament debated his ability to maintain his position as King. Interestingly, he spontaneously recovered. Since George III ruled during the American Revolution, he was thought to have had a significant impact on Britian's loss to the revolutionaries. His mental and physical lapses were blamed for much of the mishandling of the war. In 1811, George suffered a severe relapse and subsequently was dethroned by the Prince of Wales.
After researching the physicians' reports, Drs. Ida Macalpine and Richard Hunter proposed that King George might have had one of the acute porphyrias. They published their theory in theBritish Medical Journal in 1966 and later wrote a book, George III and the Mad Business, which presented more detailed accounts of King George's malady. It is important to note that a number of Porphyria specialists and other physicians disagree with their theory. However, over the years it has been widely publicized.
Porphyria in Turkey
In southeastern Turkey, between 1956 and 1961, there were reports of an epidemic of PCT. Apparently, in 1954 the Turkish government distributed a supply of wheat seed that had been treated with fungicides containing 10% hexachlorobenzene (HCB). The wheat was originally intended for planting, but the shipment arrived too late in the season. Because there was a limited food supply in the Turkish provinces of Dijarbakir, Mardin, and Urfa, the seed was diverted for food production. It was difficult to quantify the extent and duration of HCB exposure from existing surveys, because the HCB-treated seed appeared no different from untreated supplies.
As many as 5000 individuals were reported to have been affected by the HCB treated seeds. They exhibited PCT-like syndromes as early as 1956. The government discontinued using the HCB-containing fungicide in 1959, but it was not until around 1961 that the PCT outbreak waned. Researchers from clinics near the area began to trace the dietary histories of the affected individuals and discovered that HCB appeared to be the cause of the acquired form of PCT.
Prior to this time, acquired Porphyria associated with exposure to environmental toxins was observed in experimental animal models but only rarely in humans. Shortly after the reports from Turkey were published, the association between the chronic administration of HCB to induce excessive porphyrin accumulation was confirmed in animal models as well.
Although quantitative reports of HCB exposure from Turkey are incomplete, some accounts estimate that the amount of HCB ingested by the affected individuals ranged from 0.05 to 0.2 g/d over an unknown, but "relatively long period," before changes in their skin became evident. Long-term follow-up studies by Drs. Cripp and Peters and their colleagues at the University of Wisconsin indicated that the average lag time between HCB ingestion and clinical manifestation of disease was about six months. Furthermore, their study indicated that the levels of excreted porphyrins did not correlate with the individual's age at exposure, sex, serum HCB levels, or severity of initial symptoms.
Upcoming Patient Meetings & Giving Made Simple
Wednesday - October 29, 2014 @ 12:41:00
Upcoming Patient Meetings
We invite you, your friends and families to participate in a patient education meeting. The meeting will be held at the Carrie Hall at the Brigham and Women's Hospital on November 9, from 3 pm to 6 pm.
This meeting provides an excellent opportunity for you to speak to the experts and to meet fellow-patients. Please let us know if you would like to participate.
The meeting in San Francisco will be held at the Hyatt Regency Five Embarcadero Center on December 7, from 4 pm to 6 pm. Everyone is welcome to participate.
We are introducing our new Donations System that helps make it easier for making donations to the APF. You can now give via text donation or online giving.
Text Donations using your Smart Phone:
Simply text the amount you wish to donate to 281-730-8161.
Example: $5 or 5= $5.00, $10 or 10 =$10.00, etc. Choose any $ amount you wish to donate.
You will then be sent a link for a one time registration for text donations.
Once you've registered then your future donations are completed by simply texting the chosen giving amount to 281-730-8161.
You should receive a text confirmation that your donation has been received.
On-Line Giving:
Our new on-line giving is very convenient and allows you to choose what you would like to apply your donation to.
Example: In Memory of someone, In Honor of someone, Apply it to the PTF (protect the future program), etc
Just enter the amount you would like to donate and click the go button.
You then have the option of donating as a guest or register and make it easier for future donations.
You should receive an email confirmation that your donation has been received.
A 6-month Natural History Study of Acute Porphyrias
Monday - October 27, 2014 @ 12:40:49
A 6-month Natural History Study of Acute Porphyrias
Researchers are currently accepting participants for a 6-month Natural History Study of Acute Porphyrias
Alnylam Pharmaceuticals, Inc. is conducting a natural history study in collaboration with investigators from the American Porphyria Consortium to learn more about the symptoms and the treatment of patients with Acute Porphyrias. You may qualify to participate in this study if you have the diagnosis of acute intermittent porphyria, variegate porphyria or hereditary coproporhyria and have experienced at least 3 acute attacks in the last 12 months or have used Panhematin or other medicines to prevent attacks. This study will not require you to change any current medication(s) nor require you to If you take part in this study, it will greatly help clinicians and researchers to understand more about porphyria. You will receive study-related medical care and monitoring.
This study will help to learn information about porphyria that could be important in the development of new therapies for patients with Acute Porhyrias.
Exciting news!!! The EMA has recommended granting a marketing authorization under exceptional circumstances for Scenesse (Afamelanotide) for the treatment of erythropoietic protoporphyria (EPP). Scenesse is the first medicine for patients with this condition. We believe the FDA will approve it soon. Thanks to the Porphyria Research Consortium Experts: Karl Anderson, MD, FACP, Herbert Bonkovsky, MD, Montgomery Bissell, MD, Joseph Bloomer, MD, Robert Desnick, PhD, MD and John Phillips, PhD, and to all the research volunteers. You are all Medical Heroes! Thanks to the APF stuff as well.
Sensitivity is a feature of many of the diagnostic tests for porphyrias, especially when they are done at or near the time of symptoms. Tests that are sensitive for diagnosis of active porphyrias are almost always abnormal when symptoms of Porphyria are present. But the tests vary in specificity, meaning that some of the tests (those with lower specificity) are abnormal in other diseases.
In choosing a test to screen for a disease that is not only uncommon but also causes symptoms that mimic more common diseases, it is obviously important to choose a test that is both sensitive and specific. Fortunately, some tests for Porphyria have both of these features. With such tests, it should always be possible to determine if symptoms might be due to one of the porphyrias.
Table 1. Diseases due to deficiencies of specific enzymes of the heme biosynthetic pathway
The enzymes and their intermediates (substrates and products) are shown in sequence. Some intermediates are porphyrinogens (reduced porphyrins); these are excreted and measured mostly as oxidized porphyrins (click on any of the yellow-highlighted enzyme names to determine if the substances should be measured in blood, urine or feces). A deficiency of the first enzyme, ALAS, causes a type of anemia rather than a Porphyria. (Uroporphyrinogen I synthase is an obsolete term for PBGD and is not shown in the Table.)
Porphyria should be suspected quite frequently, because the symptoms that suggest the diagnosis are common. If a diagnosis of Porphyria is not made promptly, serious consequences to the patient may follow. But more often than not, laboratory testing will show that the patient does not have Porphyria, because other diseases with symptoms that mimic Porphyria are much more common. An effective approach to laboratory testing is one that does not often miss the diagnosis and also does not often incorrectly suggest that Porphyria is present.
"Remember.Research is the key to your cure!"
Message to be kind to one another
Wednesday - October 15, 2014 @ 10:30:02
"Remember.Research is the key to your cure!"
How Can I Deal With Stress?
Sunday - October 12, 2014 @ 10:30:01
How much stress are you under?
Stress? I dont even know what that is
I can handle it
Im at my limit
Im drowning in stress
HANDLING stress is like pulling a heavy shipping container. A large truck can haul it across the country with ease. But a car cannot. Pulling such a load even a short distance could ruin a cars engine. The same could be true of your engine if youre overwhelmed with stress.
Is the situation hopeless? Not at all! To keep from burning out, youll need either to lighten your load or to get a more powerful engine. Actually, you can do both. Lets see how.
Lighten Your Load
THE CHALLENGE: Overscheduling.
Someone will ask me to help out with something or to socialize when I really have things that I need to do. I just dont want to let anyone down.Karina.*
THE REMEDY: Learn to say no.
Modesty, or accepting your limitations, empowers you to say no when the load will be too heavy for you to carry.
Of course, saying no isnt always an optionfor example, when your parents remind you about your chores! But if you let everyone add to your load, youll eventually give out. Even the biggest trucks have a load limit.
Tip: If its hard for you to turn down someone outright, try saying, Let me get back to you. Then, before giving a definite reply, ask yourself, Can I really afford to invest the time and energy needed for this activity?
THE CHALLENGE: Procrastination.
If a task seems difficult, Ill put it off. But then Ill worry about the fact that I still have to do it. When I finally start on it, I have to rush, which stresses me out.Serena.
THE REMEDY: Get startedeven if you dont finish now.
Confronting a hard task is bad enough, so why add to the load by procrastinating? That just keeps it before you longer!
To create incentive, make a to-do list. Break down big tasks into manageable sizes. I love lists, says a young woman named Carol. Usually I put the things I dislike the most first, and then as I check them off, it gets easier. Before you know it, you can move on to the things in your life that are more fun!
Tip: If you struggle to get started on a task, set a timer for 10 or 15 minutes and begin working on it right away. When the alarm goes off, youll have 10 or 15 minutes of the job completed. Now that youve started, you might be surprised at how much easier it is to do more on the task.
Cut out the clutter! When you have to rifle through chaos to find your homework or clean clothes to wear, you raise your stress level. For a less hectic morning, set aside five minutes to tidy up before going to bed
Get a More Powerful Engine
Make sure your engine can handle your load
Take care of your body.
Experts agree that a healthful diet, regular exercise, and proper sleep will help you to get more done.*Dont worrytaking care of your body isnt all that complicated. A few simple steps will get you started. Take sleep, for example. Try the following.
Get enough sleep. Set regular times to go to bed and to get up, at least on school days and workdays.
Allow yourself enough time to unwind. Dont exercise within three hours before going to bed, and avoid heavy snacks and caffeine as bedtime nears.
When its time to go to bed, try to make your bedroom dark, quiet, and comfortable.
Connect with others.
Dont hesitate to turn to your parents and friends for assistance. Will that really help? Yes, for studies show that emotional support reduces the damage that increased stress can cause to your heart, blood vessels, and immune system. When anxious care weighs you down, true friends can offer you a good word of encouragement, which may be just what you need to make it through.
"Remember.Research is the key to your cure!"
General Information from the Canadian Association for Porphyria
Friday - October 10, 2014 @ 13:36:40
Information from the Canadian Association for Porphyria, 2009
A Guide To Porphyria
What are the causes of porphyria? â?¨The porphyrin molecules are synthesized in the body from simple amino acids made up of carbon, nitrogen, hydrogen and oxygen. These amino acids interact under specific enzymatic control systems to form ALA then PBG and then on to the pyrolle rings. Each of the pyrolle rings has two side chains and the when the four pyrolle ring structures condense together to form a porphyrin, the combination of the eight side chains can form several variations called isomers. These isomers undergo further reactions where the side chains lose little segments containing carbon, hydrogen and oxygen and form an extensive variety of different molecules, all called porphyrins, but each has its own physico-chemical and biochemical properties. Most of these porphyrin molecules which are not involved in normal metabolic processes are produced in tiny amounts and are destroyed or eliminated as quickly as they are formed. These porphyrin degradation products are almost always water soluable and are excreted in the urine as uroporphyrins and in the stool as coproporphyrins. Only a very few of these isomers are clinical important and essential for life. The one with the highest concentration is the porphyrin molecule incorporated in hemoglobin, but the porphyrins are also present in other systems such as the cytochrome P-450 group of enzymes which are essential for many other metabolic processes. As the red cells age they in turn are degraded and the porphyrin ring structures are ruptured to form a long chain molecule called bilirubin which gives the bile its yellow green color. Most of the metabolic processes involving the porphyrins occur in the liver and in the bone marrow.
Each step in the synthesis, remodeling and destruction of the porphyrins is carried out by a sequence of chemical reactions under the control of enzymes. These enzymes are large protein molecules and are found in both the cytoplasm and the mitochondria of living cells. The rate of each specific chemical reaction is controlled by many factors, particularly the concentration and activity of the enzyme system. As a result they influence the concentrations of both the precursor and end products of the specific reaction. These enzymes are directly under the control of the DNA that is present in the chromosomes contained within the nucleus of the cells. The chromosomes have multiple condensations of coiled DNA which are called genes. The DNA in these genes makes RNA molecules, called messenger RNA which regulate the production of proteins including these enzyme systems.
In general, each individual gene influences several enzyme functions, and for the most part each enzyme system is under the control of multiple genes although the most of the specific enzymes involved in porphyrin synthesis seem to be encoded by single gene loci. . If the DNA composition of the gene is defective or abnormal, the metabolic functions that it controls probably will be defective as well. The 23 chromosomes themselves are paired, one set from the mother, and the other from the father with the result that apart from the x - y chromosome which is associated with the sex karyotype, all genes have duplicate representation in the chromosomes. If only one of the pair of genes is defective it can either be dominant to the other normal gene and alter the metabolic process, or be recessive to it in which case there will be no metabolic derangement. Rarely, both genes may have the same recessive characteristics, in which case the metabolic functions will be significantly altered. Although usually the gene is passed on intact via the ovum or sperm from parent to offspring, occasionally a change in the structure of the gene, called mutations can occur spontaneously and sometimes develop due to radiation, medications, etc. Many of the mutations of the individual genes involved in porphyria have been identified. Often the children of porphyric patients may be at risk of inheriting their parent's disease. At other times the disease may appear without any antecedent identifiable family involvement
Several problems can develop when the chemical reactions controlled by the specific enzymes are defective. If the enzyme process is slowed there may be a build up of potentially toxic precursors and if the chemical reaction is too fast the end products may accumulate in too high a concentration. Sometimes the abnormal enzyme systems change the direction of the reaction and produce abnormal metabolites. These precursors and end products can be retained within the cell cytoplasm where they may interfere with other metabolic processes or be sufficiently toxic to cause the death of the cells. Other water soluble compounds may be carried by the blood to other tissues such as the skin where they can absorb abnormal amounts of radiant energy and affect the body in a different way. Most compounds are simply excreted in the stool and urine in abnormal amounts without any clinical problem. In pregnancy, sometimes the abnormal compounds will not allow the developing fetus to survive. Other times the metabolic abnormality will not become apparent until well after puberty or even middle age. Frequently nothing will happen unless the enzyme abnormalities are changed or induced by other factors. Excesses of lead or iron overload syndromes, certain drugs such as barbiturates and sulfa drugs along with infections such as the virus that causes hepatitis C can either cause porphyria or bring out latent cases. What are the different types of porphyria?â?¨
For the most part, the various syndromes that are classified under the collective name of porphyria are differentiated from each other on the basis of a combination of clinical symptoms and abnormal biochemical findings in blood, urine & stool. On the basis of our current understanding of molecular biology this classification is somewhat unsatisfactory and illogical. Theoretically it would be preferable to classify the porphyrias on the basis of the specific gene or enzyme defects giving rise to the abnormal prophyrin concentrations causing these abnormal clinical and biochemical findings. Unfortunately, much of the gene and enzyme studies have been carried out using ultra sophisticated techniques in specialized university research laboratories and are not yet available for common diagnostic clinical use. We still have to rely on the sometimes confusing terminology and laboratory testing.
One of the earliest classifications was based on whether the major activity of the defective enzyme system is associated with the liver (hepatic) or with the bone marrow (erythropoietic). Often however the same defective metabolic process takes place in both organs. The porphyrias can also be classified by identifying the specific tissues in which the abnormal porphyrin concentrations exert their major toxic effects such as in the skin where they are called cutaneous porphyrias or in the liver where they are called hepatic porphyrias. Other organs such as the nervous system are frequently affected. The disease may be considered to be acute with the sudden onset of serious life threatening symptoms, or it can be chronic with only minimally bothersome intermittent problems that develop gradually over months and persist for years. Very frequently, the disease is classified as latent because the patient is asymptomatic until some other outside stimulus such as drugs or sunlight initiates the onset of symptoms in a person who has the genetic predisposition for this disease. In these cases the patient may not even be aware that they are suffering from porphyria until something happens to change the activity of the enzyme system and precipitate the symptoms of the disease. How will it affect me?â?¨
People with porphyria should be able to lead full active enjoyable lives with a minimum of limitations or difficulties. Many people, probably the majority of those who have the propensity for porphyria, go through their entire lives with the inherited gene defects and never know they have this disease. They are called asymptomatic carriers and may be considered to have latent disease. A few people have repeated or intermittent attacks of symptoms separated by long intervals or remissions between illnesses. Unfortunately a very few patients can become very sick and on rare occasions patients have died. Both the quality of life and the longevity are normal in most patients with porphyria, particularly if the precipitating and inducing causes can be avoided. What are the symptoms of porphyria?
â?¨The symptoms of each type of porphyria depend on the concentration of the specific porphyrin or porphyrin precursors that are overproduced. Accumulations of ALA and possibly PBG, as in acute intermittent porphyria affect nerve endings and can cause a variety of neurovisceral symptoms and specific neurologic syndromes. The symptoms involve the nerves to the gastrointestinal tract where severe abdominal pain, often severe enough to be confused with acute appendicitis can develop and lead to exploratory surgery. There can be emotional and psychiatric problems such as anxiety, insomnia, agitation, confusion, paranoia, depression and hallucinations, although there is little evidence to suggest that porphyria itself is a cause of any of the chronic psychiatric syndromes.
Seizures fortunately are rare, as the anticonvulsant medications commonly used to treat seizures have been known to precipitate acute attacks in some patients. Many forms of peripheral neuropathy may develop involving either the motor system causing weakness, or the sensory system causing funny feelings or loss of sensation in various areas of the body. The autonomic or involuntary nervous system can be affected leading to problems such as high blood pressure, excessive sweating, rapid heart rate and changing bowel and bladder functions including constipation and urinary retention. The serum levels of sodium and magnesium can also be diminished through involvement of the neuroendocrine system. The severity and extent of these symptoms will vary from patient to patient and from day to day, depending in part on internal or endogenous factors such as menstrual hormone cycles along with external or exogenous changes including exposure to stress, drugs, sunlight, alcohol and even fasting. Sometimes these symptoms can be identified soon after birth, but usually they do not become apparent until the patient is a teenager or young adult.
Another very important group of symptoms is related to the fact that the completed porphyrin ring structure has the ability to store radiant energy, usually ultraviolet light with a wave length of about 400nm. For the most part this radiant energy is derived from exposure to bright sunlight. This energy build up within the cells can damage the subcellular structures. Certain of the porphyrins because of their structure are better able to concentrate this radiant energy more than others. This process is called photosensitivity or phototoxicity and it can cause many skin abnormalities. In an acute illness exposure to sunlight can cause tingling, stinging or burning skin discomfort during or soon after, followed by redness, rashes and blistering. Skin changes associated with chronic diseases can include scarring, increased or decreased amounts of hair growth, thickening of the skin of the exposed areas and increased skin fragility. It differs from sun burn in that it is recurrent and usually is not associated with prolonged or intense exposure to sun light. How is porphyria diagnosed?â?¨
The diagnosis of porphyria is often difficult to make, in part due to the fact that the symptoms can mimic many other clinical states and the fact that the disease is sufficiently rare that most doctors have very limited personal experience with it. The recollection that some other member of the family, even a distant cousin, had this problem is often the key to the diagnosis. Since the multiple disease syndromes known as porphyria are all due to defective enzyme functions, there are abnormal accumulations of a variety of compounds involved in the metabolic pathway. Some of these are water soluble and so are freely excreted in the urine, others are found in feces after being metabolized by the liver and excreted into the bile. The classic laboratory finding that is described is the demonstration of red urine, either immediately on being passed or after standing in bright sun light. This is due either to the excretion of preformed porphyrin molecules or possibly by the nonenzymatic condensation of the high concentration of PBG into tetrapyrrole porphyrin molecules.
Ideally, the laboratory diagnosis of porphyria should be based on either the identification of the DNA structure of the defective gene or the measurement of the activity of the specific enzyme system that is affected. These procedures are not as yet available on a routine basis. As a result, the laboratory diagnosis still depends primarily on the tests which will identify abnormal concentrations of either the precursors of porphyrins or the porphyrins themselves or both. The compounds which are usually measured include PBG, ALA, uroporphyrin and coproporphyrin, and they are found in the urine, feces, plasma and red blood cells. When the diagnosis of porphyria is considered clinically, the initial screening test should be the determination of the concentration of PBG and ALA in a random sample of urine. Porphobilinogen production is elevated in AIP, VP, and HCP. There are several procedures used for these tests and most laboratories have upgraded their protocols to use the newest techniques in order to make the screening tests more specific and sensitive. The diagnostic tests for urinary PBG, ALA and porphyrin excretion are done on a 24 hour collections of urine and require specific preservatives. The urine should be collected in an opaque bottle and refrigerated to prevent the breakdown of the compounds. These tests are often difficult for the patient to complete as the urine must be collected and stored under very specific conditions and not all laboratories can do these tests. Although a sick patient will usually cooperate with the instructions for collection and storage of a 24 hour urine sample, many asymptomatic possible carriers of the gene who are being screened will not bother. In addition, the results are often not a true reflection of the changing metabolic state of the patient, they may be technically unreliable and are often difficult to interpret when they are borderline positive.
It is essential that before arranging for these tests, the doctor consult with the laboratory to ensure that the tests are available and also know the recommended procedures as to how and when to collect the blood, stool and urine samples. In addition, there is considerable overlap of the laboratory results between the various diseases, which complicates the difficulties of making a specific diagnosis. It can be very difficult to identify the patients with latent disease, particularly youngsters before the age of puberty. Some specialized university based referral laboratories will make other tests available using more sophisticated techniques. The activity of the enzyme porphobilinogen deaminase which is deficient in patients with AIP can be measured in their red blood cells and is available in some reference laboratories. In addition the technique of high performance liquid chromatography can be used to accurately measure the concentrations of porphyrins in the urine, stool and plasma samples. Is porphyria treatable?
â?¨Simply put, the answer is yes. Prevention of the acute attacks in both known sufferers of the disease and suspected latent carriers is the most important approach. In a known porphyric patient it is essential to identify the factors that can precipitate the acute symptoms. The avoidance of porphyrogenic medications, bright sunlight or alcohol is often all that is necessary to avoid these attacks. In women with repeated premenstrual relapses, the inhibition of ovulation by the use of pituitary hormones or the LHRH analogues such as leuprolide may be effective in reducing their frequency. High carbohydrate diets are also helpful.
During the acute attacks, supportive therapy is required including narcotic analgesics, tranquilizers such as chlorpromazine, antinauseants, rehydration, sodium and magnesium replacement, high carbohydrate diets and sometimes intravenous therapy with high concentrations of glucose. Hematin and heme arginate, which are essentially the final products of the heme biosynthetic pathway can be given intravenously and act as specific agents to treat several types of porphyria by decreasing the activity of the enzyme ALA synthase, the first step in the heme biosynthetic cascade. The reduced activity of this enzyme slows down the entire metabolic pathway and stops the overproduction of ALA and PBG. However this drug must be used with caution as it can be associated with side effects.
During severe attacks the patient may on occasion require hospitalization. Seizures are often a difficult problem to control since many of the drugs used to control epilepsy such as Dilantin may precipitate or worsen attacks of porphyria. The anticonvulsant gabapentin has been shown to be effective and safe. Each type of porphyria has its own specific therapeutic program and it is important to try to identify the specific enzyme defect if possible. In cases of iron overload or lead toxicity the removal of the offending heavy metal excess may be all that is required. There appears to be some evidence that the treatment of hepatitis C with interferon and ribaviron may also be effective.
There are several drugs and medications used to treat other diseases that can precipitate an acute attack, but there are many more that are safe. It is preferable to take only the medicines that are absolutely essential. Before the patient with porphyria takes any drug they must ensure its safety. This is often difficult because of the limited experience of doctors, pharmacists and even university clinics in this field. If possible the family should check with the drug manufacturer or distributor about its porphyrogenic properties and history. The drug companies usually keep records of drug side effects. Most pharmaceutical houses have toll free phone numbers and are able to provide this information readily by fax or telephone. It is also important that the patients and the doctors share their knowledge and experience as widely as possible. What about surgery or pregnancy?â?¨
Although there may be a risk of precipitating an acute attack of porphyria when a patient requires surgery, this problem can be either avoided or controlled by the application of preventative measures and the use of appropriate drugs and anaesthetic agents by knowledgeable physicians. However the entire medical team must be conversant with this disease. The risk of problems arising during pregnancy is also relatively minor and the symptoms can be easily managed. Every patient with porphyria should wear or carry with them some type of identification such as a Medic-Alert bracelet indicating the fact that they may be at risk for porphyria. Rather than concealing the fact, they should also ensure that their close family and friends know about their condition. The individual patient should make a point of becoming as knowledgeable as possible about their disease and their health. What about my children?â?¨
Since porphyria is caused by a defective gene, it means that the children can be affected if one of the parents has porphyria. The inheritance of this gene can be classified as either dominant, in which case there is a 1 in 2 chance that the child will develop the disease, or as recessive in which case it will be very unlikely for the offspring to develop the problem. Although most types of porphyria are associated with a dominant inheritance pattern, the majority of the carriers of these abnormal genes will have latent disease and never develop symptoms and not be aware of this problem throughout their entire lives. Genetic counseling is available but most patients prefer to go about their lives in a normal fashion and deal with their family planning in their own personal fashion. The screening tests for porphyria may not become positive until after puberty but some clinics recommend periodic testing every few years starting at age 10 for children at risk of this disease. Many young patients do not bother with this testing since the test results are often unreliable and prefer to adopt a 'wait and see' attitude, while still following the appropriate preventative protocols. Future prospectsâ?¨
Considerable progress has been made in the understanding of the genetic defects giving rise to the clinical and biochemical features of porphyria. The genes have been identified and decoded and mouse models of the disease have been made by genetic engineering. This should enable scientists to assess new treatments and allow pharmaceutical companies to test new drugs for their porphyrogenic properties. However these research advances have yet to be transferred into significant changes in the standard bedside medical practices and laboratory diagnostic techniques. It can be anticipated that this will change reasonably soon. Some very sick patients may benefit by the newer techniques of bone marrow and liver transplantation. However specific gene therapy is still a long ways away.
"Remember.Research is the key to your cure!"
Researchers are currently accepting participants for a 6-month Natural History Study of Acute Porphyrias
Wednesday - October 8, 2014 @ 18:55:22
Researchers are currently accepting participants for a 6-month Natural History Study of Acute Porphyrias
Alnylam Pharmaceuticals, Inc. is conducting a natural history study in collaboration with investigators from the American Porphyria Consortium to learn more about the symptoms and the treatment of patients with Acute Porphyrias. You may qualify to participate in this study if you have the diagnosis of acute intermittent porphyria, variegate porphyria or hereditary coproporhyria and have experienced at least 3 acute attacks in the last 12 months or have used Panhematin or other medicines to prevent attacks. This study will not require you to change any current medication(s) nor require you to If you take part in this study, it will greatly help clinicians and researchers to understand more about porphyria. You will receive study-related medical care and monitoring.
This study will help to learn information about porphyria that could be important in the development of new therapies for patients with Acute Porhyrias.
Patient Education Meeting in Boston is coming up! & Porphyria Pie Challenge
Wednesday - October 8, 2014 @ 14:20:45
Patient Education Meeting in Boston is coming up!
As you know, American Association for the Study of Liver Diseases (AASLD) will host their annual meeting in Boston Nov 7-11, 2014 at the Hynes Convention Center. We invite you to participate in a patient education meeting. The meeting will be held at the Carrie Hall at the Brigham and Women's Hospital on November 9 from 3 to 6 pm.
This meeting provides an excellent opportunity for you to speak to the experts and to meet fellow-patients. Please let us know if you would like to participate.
We also are looking for volunteers to help man the booth! You will be meeting with the physician attendees, handing out educational literature, and sharing your porphyria experience with the doctors who come to the APF exhibit booth. If you live in the Boston area and are willing to assist us by manning the exhibit booth, please contact the APF: 713.857.0995 or email us atnatalia@porphyriafoundation.org.
#PorphyriaPieChallenge
Please join us in our our fun way to increase porphyria awareness! We are doing a porphyria pie challenge with a goal to increase porphyria awareness and raise funds for porphyria research.
Use #porphyriapiechallenge hashtag to your post will help it circulate through Facebook and Twitter better and gain the awareness level to make a difference.
"Remember..Research is the key to your cure!"
Tara Cantley and Twisted Wrist. Help support the APF Awareness Today
Wednesday - October 8, 2014 @ 11:56:16
For every bracelet sold of this kind, I will donate $5 to the APF. I have porphyria. This is close to my heart. I have several available and can make as many as needed. Thank you! Free Shipping! There are many choices so make a donation/purchase today for a great cause. Her link is below:
Wishing everyone a peaceful day. This world we live in is horrible and cruel, we must learn to be able to be kind, accepting and loyal. I had a rocky start but I hope the afternoon gets better for everyone. And remember we all play apart in this world. Some may discourage or discredit you and your efforts, but keep your chin up keep fighting for what you CAN DO CURRENTLY, your circumstances may change soon to do more.
"Remember..Research is the key to your cure!"
The APF Flashlight Get Yours Today
Friday - October 3, 2014 @ 10:36:00
The APF Flashlight
You can order a cute and convenient APF flashlight. Our idea for the flashlight is that you all will buy and have it handy to lighten the dark when needed. It will make a cute keychain or an useful tool that you can carry in your pocket or in a car. We want you to help us promote awareness and raise questions about Porphyria.
Funds received will go towards research projects, studies, physician education programs (PTF) and many other services that the APF provides. We are a 501(c) (3) Charitable Organization, all donations are tax-deductible.
"Remember..Research is the key to your cure!"
Exciting New Continuing Medical Education Course CME & #PorphyriaPieChallenge
Thursday - October 2, 2014 @ 12:44:46
Exciting New Continuing Medical Education Course CME
With Drs Herbert Bonkovsky, Lisa Kehrberg and Brendan M. McGuire.
Acute Intermittent Porphyria: A View From the Trenches Herbert Bonkovsky, MD; Brendan M. McGuire, MD, MS; Lisa Kehrberg, MD
CME/CE Released: 09/25/2014 ; Valid for credit through 09/25/2015
Please advise your physicians of this free CME course for CME credit.
You, too, can watch the video by joining the complimentary Medscape online site.
You can register easily and view porphyria videos, as well as a host of additional excellent articles written about all types of porphyria.
Our thanks to Dr Bonkovsky, Dr Kehrberg and Dr McGuire.
#PorphyriaPieChallenge
If you haven't heard about our fun way to increase porphyria awareness, it is not too late to get involved! We are doing a porphyria pie challenge with a goal to increase porphyria awareness and raise funds for porphyria research.
Thanks to our member Sarah Lee for coming up with an idea and opening a challenge with her own video.
#porphyriapiechallenge hashtag to your post will help it circulate through Facebook and Twitter better and gain the awareness level to make a difference.
If you read this, you have officially been challenged to participate. You have 24 hours; let's get a pie in a face!
Do we really need studies to tell us that theres a strong relationship between health and happiness? Naturally, being ill causes unhappiness. In fact, research shows that health tends to influence happiness more than wealth does. In turn, happiness can enhance health.
Still, the illness/unhappiness connection isnt so simple. This was discussed in a recent study in the Journal of Happiness Studies. (Yes, there is a science of the study of happiness, involving not only psychologists and sociologists but also economists and policy makers.)
The study involved 383 people over age 50 in Alabama, most of them women, who were questioned about various aspects of their health and their degree of happiness. What reduced happiness most, it turned out, was not how ill people were (based on objective measures of health/disease, as opposed to self-reported health status), but rather how much their infirmities disrupted their daily functioning.
Some previous studies have found that many serious medical conditions have a surprisingly small effect on happiness, as long as they dont affect daily functioning greatly. Meanwhile, other less-threatening conditions that do disrupt daily life, such as urinary incontinence or rheumatoid arthritis, tend to have a big impact. That helps explain why, overall, research has uncovered only weak links between objective measures of healthsuch as doctors recordsand happiness, life satisfaction or sense of well-being.
As the researchers pointed out, many people, not long after their diagnosis with a serious illness or the onset of symptoms, start to adapt and/or compensate by deriving pleasure from other parts of their lives. This phenomenon has been called well-being with illness or resilience. Unfortunately, a disease that continually disrupts daily life can interfere with this process of adaptation or compensation.
I really enjoyed this short article and I think you will to. So in answer to the question above "Can You Be Ill and Still Be Happy?" The answer is YES!
HI Everyone! My name is Amy Gans and I am doing a fundraiser for the American Porphyria Foundation. I myself have EPP and I would like to raise awareness for all Porphyrias. I have designed nail wraps to help raise awareness, if you would like to purchase one please send me an email or facebook message as I need to order them special. Also, feel free to shop my whole site at www.amygans.jamberrynails.net and click on the Apf at checkout as 20% of all sales will be donated.
What are Jamberry Nails= Wraps? The wraps are a solid film covering that can be applied to the nail to achieve a look not found anywhere else. This special material is both pressure and heat activated to create a water tight bond to your nail. The shields are made in the USA, with no harsh chemicals and are latex free. This new nail treatment can be applied in about fifteen minutes at home. With over three hundred styles to choose from, these designer wraps are made to last up to 2-3 weeks on fingers and four or more on toes. Unlike traditional nail polish, they wont chip and require no drying time. Its so easy to achieve a profession salon look at a fraction of the cost only costing $15 each with enough product for 2 manicures and 2-3 pedicures!
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These are the wrap's I created the price is 18.75 a sheet plus tax and shipping. The purple and blue are on a white background and the red is on a clear background. You can also create your own wraps if you go towww.amygans.jamberrynails.net and click on Nail Art Studio starting on 9/24.
The Porphyria Research Consortium: A Partnership Between the American Porphyria Foundation and Physician Researchers
Friday - September 26, 2014 @ 11:04:04
This week we are publishing the article written by our Executive Director Desiree Lyon. The original can be found on the Academic Medicine Journal's website:
The Porphyria Research Consortium: A Partnership Between the American Porphyria Foundation and Physician Researchers
Editor's Note: For more on patient advocacy groups, like the Porphyria Research Consortium, check out our AM Last Page, entitled "Realizing the Potential of Patient Organizations in Translational Research-Delivering Treatments for Rare Diseases."
By: Desiree Lyon Howe, executive director, American Porphyria Foundation
The American Porphyria Foundation (APF) has been instrumental in facilitating porphyria research for over thirty years. The porphyrias are a group of disorders caused by enzyme deficiencies in the heme biosynthetic pathway that affect the Central Nervous System and/or the skin. The collaborative relationship we enjoy with our Scientific Advisory Board is vital to the success of our research projects. This relationship became even more productive when we formed the Porphyria Research Consortium with these porphyria experts. The Consortium is now funded by the National Institutes of Health Rare Disease Clinical Network.
The success of this partnership was evident during the recent Afamelnotide clinical trials. In only one month, we located and registered 90 Erythropoietic Protoporphyria patients for the Phase II trials and 100 more patients for the Phase III trials. This unprecedented accomplishment was achievable because we maintain a well-developed research strategy that includes the Consortium in every step. Their participation, in turn, substantiates our research efforts and gives credibility to the medical information we publish. Such research and educational validation is important to gain the respect of primary care physicians.
Together, we and the Consortium created the National Porphyria Research Registry as a source of research patients and a means to determine incidence. Prior to the initiation of research projects, we prepare patients by educating them on the value and process of clinical trials, introducing them to the researchers, and encouraging them to join the Registry. We reduce patients' fears and provide reassurance about the Registry, clinical trials, the expertise of the researchers, and the merit of the research by publishing articles on our website, in our newsletters, and on social media, (e.g., Facebook, Twitter, and blogs). We use these same methods to tout former research patient volunteers, who by sharing their experience, increase the number of future research volunteers.
Researchers in turn assist us by preparing the clinical trials announcements for patients and physicians, which we then distribute via our vast database. Another unique and successful collaboration occurs at our patient education meetings held around the country, during which we locate and register research participants. Three to five experts volunteer for these gatherings to make presentations, answer questions, register patients for their research, and often collect DNA samples.
Also important to our research efforts are the young physicians who participate in the Protect the Future (PTF) program, an APF-supported, mentor project to train the next generation of porphyria experts. The Consortium educates these physicians so they become well versed in both the clinical and basic sciences of the porphyrias and become ready to take on the role of future academic leaders in the field. As part of their training, PTF physicians also conduct mentored research and serve as clinicians at our "satellite clinics" where patients are given the rare opportunity to meet with a physician with porphyria expertise. In turn, at these clinics, PTF physicians interact with a new pool of research participants.
Our synergistic relationship with our Scientific Advisory Board of experts is key to the success of our research programs.
"Remember.Research is the key to your cure!"
No longer living in fear
Wednesday - September 24, 2014 @ 10:30:03
By Rocco Falchetto
Sometimes the pain takes hold of the psyche and then takes over your life completely. At such moments, I have often wished that my illness could somehow be more apparent to others. Sometimes when I am treated with condescension because the pain which feels like boiling oil on my skin is not visible, I think about people who are blind or paralyzed. Nobody doubts a persons disability when they see them with a white stick or a wheelchair.
Rocco Falchetto can now enjoy being outside in the sunshine without worrying about his skin burning after a few moments exposure (Photo provided by the author)
Thoughts like this are irrational of course I am thankful that I dont suffer from the additional problem of a visible disability. Despite this, the disease has a significant effect on my quality of life and it is hard to get away from the negative mindset especially when doctors downplay the symptoms because they don't know what they are talking about or as a result of their lack of specialist knowledge about the illness. I always get angry when I hear similar stories from other sufferers.
While I would like to experience more understanding and sympathy for my condition, I can't stand pity at all. I have the disease, but Rocco Falchetto is not the disease he is much more than that. While my illness has partly shaped who I am today, I still lead a fulfilling life and have achieved things that I can be proud of. This is another reason why it is so difficult for me to talk about it. People should get to know me first without knowing anything about the illness.
However, I now know just how important it is to tell my story.
It is high time that society takes the needs of sufferers of rare illnesses and diseases into account and the difficulties we face in finding treatments.
A difficult childhood
EPP meant that my childhood and teenage years were difficult. The many associated problems and limitations were difficult to accept. The desire to be normal was often much greater than common sense dictated, and put me in situations that led to a lot of pain and suffering.
I will never forget the day when I first received the drug I summoned all my courage and went to sit in the sun. I then waited, afraid of what was going to happen.
The situation was also difficult for my parents, especially as one of my two older brothers also suffered from EPP. They tried their hardest to support us in leading as normal a life as we could. Of course, this was not always possible. I still remember their helplessness when my brother died of liver complications at the age of 16 in 1974, something which can occur to EPP patients in rare cases. Back then, the doctors could do nothing for him. Nowadays, his life could have been saved by a liver transplant and immunosuppressants.
The thought that this might happen to me as well together with the need for such a complicated operation is always at the back of my mind and becomes apparent in certain situations. For example, I am always nervous as to whether all my liver values are normal after every check-up.
Sometimes they deviate from the norm, meaning additional tests are then necessary to make sure that they dont deteriorate further. In such moments, I often think about my brothers death and what my parents had to go through at the time the hospital visits, the trip by ambulance to the University Childrens Hospital in Zurich and the moment that the doctors announced they could no longer help him. I was too young to really understand what was happening back then. However, I clearly remember my mothers devastation at losing her child and the feeling of helplessness and injustice.
The long path to acceptance
After living with EPP for many years and unsuccessfully trying out various remedies and products in an attempt to alleviate the debilitating symptoms, I finally began to accept the illness.
Whenever possible, I didnt leave the house at all on sunny days. When going to work, for example, I was always afraid of the painful symptoms of EPP. I walked in the shade as far as possible, wore long-sleeved shirts and gloves, and even covered my face in extreme cases.
However, keeping up these precautionary measures for long periods was not realistic as it would have led to almost complete social isolation. I then had to expose myself to dangerous situations from time to time, even though I knew about the possible adverse effects that may have occurred as a result.
Hopes for a normal life
The turning point for me came when I first learned about research by another company into a substance produced naturally in the body that stimulates tanning of the skin. I discovered it online completely by accident at a time when it was still being tested in other applications. I saw its potential in treating EPP and talked to my doctor. Within a matter of months, she and the researchers concerned had organized the first human clinical trial for it.
I was one of five patients in Switzerland who took part in the clinical study.
I will never forget the day when I first received the drug I summoned all my courage and went to sit in the sun. I then waited, afraid of what was going to happen. Ten minutes passed, then 20, then 30 (where I would normally already be in pain), then 40 minutes and more in the sun and all without the typical painful symptoms! After over 40 years with the illness, I was convinced that I had finally found a drug that I believed tackled the EPP symptoms.
I took part in a further clinical trial. I had to travel to Zurich every two months for a new injection of the drug implant, which was a small price to pay given what I felt was its positive effect on my quality of life.
I am currently benefitting from a compassionate use program which allows me to continue using the drug and, thanks to special legislation, most Swiss health insurance companies now reimburse the cost of such medication.
Difficult regulatory environment
However, the current situation is only temporary if the product is not formally approved, then the reimbursement and the treatment can be withdrawn. This would be a heavy blow.
I dont like to think about what would happen in this case, but the increasingly challenging context surrounding drug approvals does make me nervous as a patient.
Some countries have even started to put a price on the quality of life. For example, at the end of 2010 the Swiss Federal Court passed a judgment ruling that health insurance companies were not obliged to reimburse the costs for treating Pompe disease, a rare, serious metabolic disorder. Treatment of Pompe disease can cost several hundred thousand Swiss francs a year. While this is undoubtedly expensive, the therapy can significantly ease the symptoms and allow patients to lead a relatively normal life.
This shows how difficult it still is for people with rare diseases to make their voices heard, not to mention how inadequately their needs continue to be met. I am also worried that our modern society is not more committed to discovering creative and innovative solutions for the benefit of these patients.
This medication has radically changed my day-to-day life I can now do things that I would never have been able to do before without pain. Not only my friends and family benefit from this my working life has also become much easier.
I can now go to the office without having to always move about in the shade and go on business trips without thinking so much about the unfamiliar surroundings. Lastly, I can now move freely around at work, meet with colleagues and simply enjoy our wonderful working environment.
The EPP sufferer community is a small one in Switzerland, gathered in a patient organization that I chair. We all know one another. It is very moving to hear how patients who have undergone treatment with the drug felt the sun warm their faces for the very first time without causing pain and suffering.
"Remember.Research is the key to your cure!"
How to Deal With Burnout
Monday - September 22, 2014 @ 12:53:26
ANIL was beyond exhausted. He had taken on a new job because it promised greater prestige and more income. But now he was working late nights as well as weekends, sometimes up to 80 hours a week. The work environment was chaotic, he states, and all the responsibility fell on me. I said to myself: What have I done? If I dont make a change, Im dead. Anil was rapidly burning out.
Workplace burnout is more than mere tiredness, and it goes beyond the ordinary stress of everyday work. Burnout is characterized by chronic exhaustion and strong feelings of frustration and powerlessness. Those suffering from burnout tend to withdraw emotionally from their work, lose motivation, and become less productive. Studies also link burnout to numerous emotional and physical health problems.
What causes burnout? Work overload is often a factor. Because of economic pressures, some employers demand that employees work longer hours, at times for less money. Technology now keeps some in constant contact with their job, blurring the lines between work and private life. For some, job insecurity, lack of control over their work, or feelings of being treated unfairly contribute to burnout. So does dealing with unclear priorities or conflicts with coworkers.
Burnout can also be self-inflicted. In the pursuit of career goals and greater income, some try to fit ever more work into their life. Such ones may become overcommitted and find themselves on the road to burnout.
If you are experiencing workplace burnout, how can you recover? Granted, change may seem impossible if you feel trapped in circumstances beyond your control. Nevertheless, consider the following four steps for dealing with burnout. You may have more options than you realize.
1. EVALUATE YOUR PRIORITIES.
What is most important to you? Many people would likely put family relationships and good health near the top of their list. These are things that are likely to suffer if you are burned out.
By clarifying your priorities, you prepare yourself to make difficult decisions and accept trade-offs. For example, you may see that your work is leading to burnout. Yet you may reason, I cannot change jobs or work less; I need the income! True, everyone needs income, but how much and at what cost to the things you value most?
Beware of pressure to adopt the priorities of others around you as your own. Your employers priorities and yours are likely different. Others may choose to put work first in their life, but this does not mean that you must do the same.
2. SIMPLIFY YOUR LIFE.
To reduce stress and gain time for what you truly value, you may consider working fewer hours, you may be able to persuade your employer to reduce your current job demands, or you may determine that you need to change jobs. Whatever you decide to do, you will likely need to adjust your financial situation and make changes in your lifestyle. But this is not impossible and may not be as hard as you might think.
In many lands, a consumer-oriented society sends the message that happiness is linked to income level and possessions. But in reality it is not. A simpler lifestyle can bring greater freedom and satisfaction. To prepare for such a change, reduce expenses and save money. Try to lower or eliminate debt. Discuss the need for change with your family members, and seek their support.
3. LEARN WHEN TO SAY NO TO WORK.
If you face an unrealistic workload or some other persistent problem in your workplace, discuss your situation with your employer. Whenever possible, offer solutions that meet both your needs and those of your employer. Reassure your employer of your commitment to your work, and explain what you are willing to do; but be clear and firm about what you are not able to do.
Use foresight and be realistic. If you want to work less, your employer may expect you to accept less compensation. Anticipate risks such as the threat of job loss, and be prepared to respond. Remember that your prospects for finding a different job are better while you are still employed.
Even when you have reached a mutually agreeable work arrangement with your employer, you can expect to be pressured again to take on more work. What can help you to remain firm? Keeping to the commitments that you have made. Doing so might give you leverage to ask your employer to do the same in return, including keeping your workload within the agreed limits.
4. RENEW YOURSELF.
Even when your work is free of major problems, you may still have your share of stresses, difficult people, and unpleasant situations. So make time for sufficient rest and balanced recreation. Remember that recreation does not have to be expensive to be refreshing to you and your family.
Cultivate interests and friendships apart from your work, and avoid defining yourself by the type and amount of work that you do. Why? The book Your Money or Your Life observes: Who you are is far greater than what you do for money. If your identity and self-worth come primarily from your work, then you will find it difficult to minimize the role that work plays in your life.
"Remember.Research is the key to your cure!"
Fall Day Message
Thursday - September 18, 2014 @ 00:03:20
Have a beautiful First day of fall. To all Porphyria Patients earth wide. May you all stay healthy and happy. Spend time with family and friends on these cool and crisp days. If you have any questions about Porphyria please feel free to call the American Porphyria Foundation @ 1-866-APF-3635. We have Doctor Kits and patients packets that we can send out. Please have your Doctors name and full mailing address ready. If you would like to receive a patient kit please have your full name and mailing address to. If you like to know what research studies are out there and how you can participate in please contact the APF and ask for Natalia or Desiree @ 1-866-APF-3635.
Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cellsred blood cells, white blood cells, and platelets.
The process of making heme is called the heme biosynthetic pathway. One of eight enzymes controls each step of the process. The body has a problem making heme if any one of the enzymes is at a low level, also called a deficiency. Porphyrins and porphyrin precursors of heme then build up in the body and cause illness.
Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the form of hemoglobin, found in red blood cells and bone marrow. Hemoglobin carries oxygen from the lungs to all parts of the body. In the liver, heme is a component of proteins that break down hormones, medications, and other chemicals and keep liver cells functioning normally. Heme is an important part of nearly every cell in the body.
Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. Experts often classify porphyrias as acute or cutaneous based on the symptoms a person experiences:
Acute porphyrias affect the nervous system. They occur rapidly and last only a short time.
Cutaneous porphyrias affect the skin.
Two types of acute porphyrias, hereditary coproporphyria and variegate porphyria, can also have cutaneous symptoms.
Experts also classify porphyrias as erythropoietic or hepatic:
In erythropoietic porphyrias, the body overproduces porphyrins, mainly in the bone marrow.
In hepatic porphyrias, the body overproduces porphyrins and porphyrin precursors, mainly in the liver.
Table 1 lists each type of porphyria, the deficient enzyme responsible for the disorder, and the main location of porphyrin buildup.
The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.1
1Pierach CA. Porphyrias. In: Bope and Kellerman, eds. Conns Current Therapy 2012. 1st ed. Philadelphia, PA: Saunders; 2011: 847850.
Most porphyrias are inherited disorders. Scientists have identified genes for all eight enzymes in the heme biosynthetic pathway. Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent. Some porphyrias, such as congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and erythropoietic protoporphyria, occur when a person inherits two abnormal genes, one from each parent. The likeliness of a person passing the abnormal gene or genes to the next generation depends on the type of porphyria.
Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency. This type of porphyria can be triggered by
too much iron
use of alcohol or estrogen
smoking
chronic hepatitis Ca long-lasting liver disease that causes inflammation, or swelling, of the liver
HIVthe virus that causes AIDS
abnormal genes associated with hemochromatosisthe most common form of iron overload disease, which causes the body to absorb too much iron
For all types of porphyria, symptoms can be triggered by
Some people with porphyria-causing gene mutations have latent porphyria, meaning they have no symptoms of the disorder. Symptoms of cutaneous porphyrias include
oversensitivity to sunlight
blisters on exposed areas of the skin
itching and swelling on exposed areas of the skin
Symptoms of acute porphyrias include
pain in the abdomenthe area between the chest and hips
pain in the chest, limbs, or back
nausea and vomiting
constipationa condition in which an adult has fewer than three bowel movements a week or a child has fewer than two bowel movements a week, depending on the person
urinary retentionthe inability to empty the bladder completely
confusion
hallucinations
seizures and muscle weakness
Symptoms of acute porphyrias can develop over hours or days and last for days or weeks. These symptoms can come and go over time, while symptoms of cutaneous porphyrias tend to be more continuous. Porphyria symptoms can vary widely in severity.
A health care provider diagnoses porphyria with blood, urine, and stool tests. These tests take place at a health care providers office or a commercial facility. A blood test involves drawing blood and sending the sample to a lab for analysis. For urine and stool tests, the patient collects a sample of urine or stool in a special container. A health care provider tests the samples in the office or sends them to a lab for analysis. High levels of porphyrins or porphyrin precursors in blood, urine, or stool indicate porphyria. A health care provider may also recommend DNA testing of a blood sample to look for known gene mutations that cause porphyrias.
Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.
Acute Porphyrias
A health care provider treats acute porphyrias with heme or glucose loading to decrease the livers production of porphyrins and porphyrin precursors. A patient receives heme intravenously once a day for 4 days. Glucose loading involves giving a patient a glucose solution by mouth or intravenously. Heme is usually more effective and is the treatment of choice unless symptoms are mild. In rare instances, if symptoms are severe, a health care provider will recommend liver transplantation to treat acute porphyria. In liver transplantation, a surgeon removes a diseased or an injured liver and replaces it with a healthy, whole liver or a segment of a liver from another person, called a donor. A patient has liver transplantation surgery in a hospital under general anesthesia. Liver transplantation can cure liver failure. Read more in Liver Transplantation at www.digestive.niddk.nih.gov.
Cutaneous Porphyrias
The most important step a person can take to treat a cutaneous porphyria is to avoid sunlight as much as possible. Other cutaneous porphyrias are treated as follows:
Porphyria cutanea tarda. A health care provider treats porphyria cutanea tarda by removing factors that tend to activate the disease and by performing repeated therapeutic phlebotomies to reduce iron in the liver. Therapeutic phlebotomy is the removal of about a pint of blood from a vein in the arm. A technician performs the procedure at a blood donation center, such as a hospital, clinic, or bloodmobile. A patient does not require anesthesia. Another treatment approach is low-dose hydroxychloroquine tablets to reduce porphyrins in the liver.
Erythropoietic protoporphyria. People with erythropoietic protoporphyria may be given beta-carotene or cysteine to improve sunlight tolerance, though these medications do not lower porphyrin levels. Experts recommend hepatitis A and B vaccines and avoiding alcohol to prevent protoporphyric liver failure. A health care provider may use liver transplantation or a combination of medications to treat people who develop liver failure. Unfortunately, liver transplantation does not correct the primary defect, which is the continuous overproduction of protoporphyria by bone marrow. Successful bone marrow transplantations may successfully cure erythropoietic protoporphyria. A health care provider only considers bone marrow transplantation if the disease is severe and leading to secondary liver disease.
Congenital erythropoietic porphyria and hepatoerythropoietic porphyria. People with congenital erythropoietic porphyria or hepatoerythropoietic porphyria may need surgery to remove the spleen or blood transfusions to treat anemia. A surgeon removes the spleen in a hospital, and a patient receives general anesthesia. With a blood transfusion, a patient receives blood through an intravenous (IV) line inserted into a vein. A technician performs the procedure at a blood donation center, and a patient does not need anesthesia.
Secondary Porphyrinurias
Conditions called secondary porphyrinurias, such as disorders of the liver and bone marrow, as well as a number of drugs, chemicals, and toxins are often mistaken for porphyria because they lead to mild or moderate increases in porphyrin levels in the urine. Only highnot mild or moderatelevels of porphyrin or porphyrin precursors lead to a diagnosis of porphyria.
People with an acute porphyria should eat a diet with an average-to-high level of carbohydrates. The recommended dietary allowance for carbohydrates is 130 g per day for adults and children 1 year of age or older; pregnant and breastfeeding women need higher intakes.2 People should avoid limiting intake of carbohydrates and calories, even for short periods of time, as this type of dieting or fasting can trigger symptoms. People with an acute porphyria who want to lose weight should talk with their health care providers about diets they can follow to lose weight gradually.
People undergoing therapeutic phlebotomies should drink plenty of milk, water, or juice before and after each procedure.
A health care provider may recommend vitamin and mineral supplements for people with a cutaneous porphyria.
2National Research Council. Dietary Reference Intakes for Energy, Carbohydrate, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids (Macronutrients). Washington, D.C.: The National Academies Press; 2005.
Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain.
Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway.
The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.
Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent.
Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency.
Symptoms of cutaneous porphyrias include
oversensitivity to sunlight
blisters on exposed areas of the skin
itching and swelling on exposed areas of the skin
Symptoms of acute porphyrias include
pain in the abdomen
pain in the chest, limbs, or back
nausea and vomiting
constipation
urinary retention
confusion
hallucinations
seizures and muscle weakness
A health care provider diagnoses porphyria with blood, urine, and stool tests.
Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) conducts and supports research to help people with digestive diseases, including disorders that affect the liver.
Clinical trials are research studies involving people. Clinical trials look at safe and effective new ways to prevent, detect, or treat disease. Researchers also use clinical trials to look at other aspects of care, such as improving the quality of life for people with chronic illnesses. To learn more about clinical trials, why they matter, and how to participate, visit the NIH Clinical Research Trials and You website at www.nih.gov/health/clinicaltrials. For information about current studies, visit www.ClinicalTrials.gov.
Information about porphyria is also available from the following organizations:
"Remember.Research is the key to your cure!"
Be a Medical Hero!
Monday - September 15, 2014 @ 11:23:08
Be a Medical Hero!
We invite you to be an important part of a 7201: Longitudinal Study of the Porphyrias. Being a part of the study is an extremely easy process. All what is needed from you is a little of your blood and answering a questionnaire. It is easy, but very important for porphyria researchers. By you answering the questions, researchers will be able to get a greater understanding of your type of porphyria, the pain, the unset of attack and the problem with diagnosis. Your participation is needed; we don't have enough patients. Please call the APF 713.266.9617 and sign up today!
"Remember.Research is the key to your cure!"
You are invited to a Patient Education Meeting
Wednesday - September 10, 2014 @ 14:49:59
You are invited to a Patient Education Meeting
Sunday September 28th, 4:30-6:30 pm
6 Mistflower Lane
Santa Rosa Beach, Fl. 32459
My home, All are welcome!!
Santa Rosa Beach is between Destin and Panama City in a community called Watercolor, Next to Seaside.
This is my story about AIP I hope that you enjoy listening and learning. It is so important to find out clear and accurate information. The American Porphyria Foundation can do just that. If you need any help with locating a Doctor, you have a concern or need to be tested or see a Porphyria Expert in your area please contact them at 1-866-APF-3635. To read more information about each type of Porphyria and treatment types: porphyriafoundation.com There are many opportunities to be apart of the research programs so please call the APF. Would you like to have a cure soon, I know I would, so please get involved there are so many ways. If you would like to participate in holding a fundraiser please email me Amy.APF@gmail.com with your ideaswe have some great ideas coming in so please join us..
"Remember.Research is the key to your cure!"
A Day In My SHOES!
Thursday - September 4, 2014 @ 11:22:18
A day in my shoes would do some people some good,
A day in my shoes would make my efforts understood,
A day in my shoes would make people understand,
What's it's like to be me,
What it's like not having people
Who are different from you giving you a hand,
A day in my shoes would make you aware,
That people like me surely do care,
The insults are hurtful,
The name calling isn't nice,
I never do anything wrong,
And still I pay the price,
If you spent just one day in my shoes,
You would surely feel the way I do,
\You'd feel hated and surely misunderstood,
I know you can never really have a day in my shoes,
All it is, is impossible,
But you can still think about how it would you make me feel,
When I'm made fun of it's not a game,
It's the real deal.
"Remember.Research is the key to your cure!"
Important Update About a Patient Education Meeting in Boston
Wednesday - September 3, 2014 @ 10:30:00
Important Update About a Patient Education Meeting in Boston
As you know, American Association for the Study of Liver Diseases (AASLD) will host their annual meeting in Boston Nov 7-11, 2014 at the Hynes Convention Center. We invite you to participate in a patient education meeting. The meeting will be held at the Carrie Hall at the Brigham and Women's Hospital on November 9 from 3 to 6 pm.
This meeting provides an excellent opportunity for you to speak to the experts and to meet fellow-patients. Please let us know if you would like to participate.
We also are looking for volunteers to help man the booth. You will be meeting with the physician attendees, handing out educational literature, and sharing your porphyria experience with the doctors who come to the APF exhibit booth. If you live in the Boston area and are willing to assist us by manning the exhibit booth, please contact the APF: 713.857.0995 or email us at natalia@porphyriafoundation.org.
Rare Disease Briefing in Washington DC
Rare Disease Legislative Advocates in coordination with Rare Disease Congressional Caucus Co-Chairs Representatives Leonard Lance and Joe Crowley, will host a briefing on Implementation of the Rare Disease Provisions in the Food & Drug Administration Safety and Innovation Act of 2012 (FDASIA) PL 112-144.
Many of you are ill right now, so please take care of yourself
Friday - August 29, 2014 @ 10:30:01
HAVE A HAPPY WEDNESDAY EVERYONE!
Many of you are ill right now, so please take care of yourself, follow your Doctors orders and get well soon.
If you are experiencing communication problems with your Doctor and need information or to check if there is a knowledgeable doctor in your area, please call 1-866-APF-3635. If you would like to receive a comprehensive Doctor Kit send to your current Doctor please call the APF and have your Doctors name, address and phone available. If you would like a patient kit send to you directly please contact the APF. Please have your name, address and phone available. Once again the name to the American Porphyria Foundation is ~ 1-866-APF-3635.
"Remember.Research is the key to your cure!"
Current Research Studies Part 2 of 2
Wednesday - August 27, 2014 @ 10:30:01
Current Research Studies Part 2 of 2
Below you will find a list of current studies with short summaries. Please consider being a part of a study. The research is a key to your cure!
7204: Clinical Diagnosis of Acute Porphyria
We will enroll individuals who are first-degree relatives (child, sibling, parent, or grandparent) of a patient with a diagnosis of one of the acute porphyrias (index case). We are interested in all three types of acute porphyria in which the index case has been confirmed by genetic testing: Acute Intermittent Porphyria (AIP), Hereditary Corproporphyria (HCP) or Variegate Porphyria (VP). Participants (the first-degree relatives) must not have had any genetic testing as yet. They will have an initial visit during which they will complete a history questionnaire and have routine laboratory tests, including genetic testing for porphyria. The researchers will use this data to develop a Clinical Profile of the risk factors associated with being a genetic carrier of acute porphyria.
7205: Measuring the Effects of Isoniazid Treatment on Erythrocyte and Plasma Protoporphyrin IX Concentration in Patients with Erythropoietic Protoporphyria
This is an interventional study (study in which investigators give research subjects a particular medicine (in this case isoniazid) to measure how the subjects' health changes while using the medicine). To participate, all participants must also be enrolled in the Longitudinal Study of the Porphyrias and be willing to share their medical records with researchers. In the initial visit, participants will have a general physical exam and blood drawn for lab work. Participants will also be prescribed a dose of 300 mg of Isoniazid that they will need to take daily. Participants will need to have a follow up visit every two weeks for twelve weeks. Each follow up visit will include a blood test to see how the Isoniazid is working.
7206: Hydroxychloroquine vs. phlebotomy for porphyria cutanea tarda
This study compares two treatments for PCT. The initial treatment phase may take up to 6 months. During this phase subjects are followed every 2 weeks. After the treatment phase subjects will be followed at least 3 years.
Study patients will be characterized in terms of known risk factors for PCT, including drinking alcohol, smoking, hepatitis C, HIV infection, estrogen use, and genetic characteristics.
Blood plasma and urine porphyrin concentrations will be measured at 2-week intervals for up to 6 months. After that participants will be followed every 2 months for the first year and every 6 months for the second year. There will be one final follow-up visit in the third year.
7207: Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact)
This is a longitudinal study (study taking place over a long period of time) of about 150 individuals with EPP. Participants enrolled in this study should also be enrolled in the "Longitudinal Study of the Porphyrias" Those participating in this study will be evaluated yearly. Follow up visits can be conducted with the participant's local physicians.
Please contact the APF for more information or to get enrolled in the studies 713.266.9617.
"Remember.Research is the key to your cure!"
22 Things Happy People Do Differently. Are you a happy person despite Porphyria disease?
Friday - August 22, 2014 @ 12:11:00
22 Things Happy People Do Differently
Disclaimer: This article is not intended to address those with clinical depression or other mental illnesses. Please always seek the advice of your Doctors before starting or making any lifestyle changes.
There are two types of people in the world: those who choose to be happy, and those who choose to be unhappy. Contrary to popular belief, happiness doesnt come from fame, fortune, other people, or material possessions. Rather, it comes from within. The richest person in the world could be miserable while a person living in the slums of a third world country could be happy and content. I have spent plenty of time amongst both groups to have seen it first hand. Happy people are happy because they make themselves happy. They maintain a positive outlook on life and remain at peace with themselves.
The question is: how do they do that?
Its quite simple. Happy people have good habits that enhance their lives. They do things differently. Ask any happy person, and they will tell you that they â?¦
1. Dont hold grudges.
Happy people understand that its better to forgive and forget than to let their negative feelings crowd out their positive feelings. Holding a grudge has a lot of detrimental effects on your wellbeing, including increased depression, anxiety, and stress. Why let anyone who has wronged you have power over you? If you let go of all your grudges, youll gain a clear conscience and enough energy to enjoy the good things in life.
2. Treat everyone with kindness.
Did you know that it has been scientifically proven that being kind makes you happier? Every time you perform a selfless act, your brain produces serotonin, a hormone that eases tension and lifts your spirits. Not only that, but treating people with love, dignity, and respect also allows you to build stronger relationships.
3. See problems as challenges.
The word problem is never part of a happy persons vocabulary. A problem is viewed as a drawback, a struggle, or an unstable situation while a challenge is viewed as something positive like an opportunity, a task, or a dare. Whenever you face an obstacle, try looking at it as a challenge.
4. Express gratitude for what they already have.
Theres a popular saying that goes something like this: The happiest people dont have the best of everything; they just make the best of everything they have. You will have a deeper sense of contentment if you count your blessings instead of yearning for what you dont have.
5. Dream big.
People who get into the habit of dreaming big are more likely to accomplish their goals than those who dont. If you dare to dream big, your mind will put itself in a focused and positive state.
6. Dont sweat the small stuff.
Happy people ask themselves, Will this problem matter a year from now? They understand that lifes too short to get worked up over trivial situations. Letting things roll off your back will definitely put you at ease to enjoy the more important things in life.
7. Speak well of others.
Being nice feels better than being mean. As fun as gossiping is, it usually leaves you feeling guilty and resentful. Saying nice things about other people encourages you to think positive, non-judgmental thoughts.
8. Never make excuses.
Benjamin Franklin once said, He that is good for making excuses is seldom good for anything else. Happy people dont make excuses or blame others for their own failures in life. Instead, they own up to their mistakes and, by doing so, they proactively try to change for the better.
9. Get absorbed into the present.
Happy people dont dwell on the past or worry about the future. They savor the present. They let themselves get immersed in whatever theyre doing at the moment. Stop and smell the roses.
10. Wake up at the same time every morning.
Have you noticed that a lot of successful people tend to be early risers? Waking up at the same time every morning stabilizes your circadian rhythm, increases productivity, and puts you in a calm and centered state.
11. Avoid social comparison.
Everyone works at his own pace, so why compare yourself to others? If you think youre better than someone else, you gain an unhealthy sense of superiority. If you think someone else is better than you, you end up feeling bad about yourself. Youll be happier if you focus on your own progress and praise others on theirs.
12. Choose friends wisely.
Misery loves company. Thats why its important to surround yourself with optimistic people who will encourage you to achieve your goals. The more positive energy you have around you, the better you will feel about yourself.
13. Never seek approval from others.
Happy people dont care what others think of them. They follow their own hearts without letting naysayers discourage them. They understand that its impossible to please everyone. Listen to what people have to say, but never seek anyones approval but your own.
14. Take the time to listen.
Talk less; listen more. Listening keeps your mind open to others wisdoms and outlooks on the world. The more intensely you listen, the quieter your mind gets, and the more content you feel.
15. Nurture social relationships.
A lonely person is a miserable person. Happy people understand how important it is to have strong, healthy relationships. Always take the time to see and talk to your family, friends, or significant other.
16. Meditate.
Meditating silences your mind and helps you find inner peace. You dont have to be a zen master to pull it off. Happy people know how to silence their minds anywhere and anytime they need to calm their nerves.
17. Eat well.
Junk food makes you sluggish, and its difficult to be happy when youre in that kind of state. Everything you eat directly affects your bodys ability to produce hormones, which will dictate your moods, energy, and mental focus. Be sure to eat foods that will keep your mind and body in good shape.
18. Exercise.
Studies have shown that exercise raises happiness levels just as much as Zoloft does. Exercising also boosts your self-esteem and gives you a higher sense of self-accomplishment.
19. Live minimally.
Happy people rarely keep clutter around the house because they know that extra belongings weigh them down and make them feel overwhelmed and stressed out. Some studies have concluded that Europeans are a lot happier than Americans are, which is interesting because they live in smaller homes, drive simpler cars, and own fewer items.
20. Tell the truth.
Lying stresses you out, corrodes your self-esteem, and makes you unlikeable. The truth will set you free. Being honest improves your mental health and builds others trust in you. Always be truthful, and never apologize for it.
21. Establish personal control.
Happy people have the ability to choose their own destinies. They dont let others tell them how they should live their lives. Being in complete control of ones own life brings positive feelings and a great sense of self-worth.
22. Accept what cannot be changed.
Once you accept the fact that life is not fair, youll be more at peace with yourself. Instead of obsessing over how unfair life is, just focus on what you can control and change it for the better.
So what are you going to work on, please share your comments and views below.
All of these avenues contribute to your health and wellbeing and play and major part in controlling your Porphyria and other health conditions so why not start today?
"Remember.Research is the key to your cure!"
SLEEP What is it and how does it affect us and Porphyria
Wednesday - August 20, 2014 @ 22:26:30
SleepLuxury or Necessity? TO SOME PEOPLE, sleep is a waste of time. Preferring a very busy daily schedule of business and social engagements, they only surrender to sleep when extremely tired. In contrast, others, enduring night after night of tossing and turning until the early hours of the morning, would give anything for a good nights sleep. Why do some find it so hard to sleep, while others are desperate to stay awake? Should we view sleep as a luxury or a necessity? To answer these questions, we need to understand what is going on while we are asleep. The Mysteries of Falling Asleep Exactly what makes a person lose consciousness and fall asleep remains a mystery. Researchers, however, have established that sleep is a complex process regulated by the brain and that it obeys a 24-hour biological clock. As we get older, our sleeping habits change. A newborn sleeps for frequent short periods that total about 18 hours a day. According to sleep specialists, although some adults appear to need only three hours of sleep a day, others need up to ten hours.
Recent research has shown that variations in our biological clock also explain why some teenagers struggle to get out of bed in the morning. The biological clock seems to shift forward during puberty, making youngsters want to go to sleep later and wake up later. This sleep delay is common and tends to disappear in the mid-to-late teens. Our biological clock is regulated by chemical substances, many of which have already been identified. One of them is melatonin, a hormone thought to trigger sleepiness. Melatonin is produced in the brain, and some scientists believe that it is responsible for the slowdown of the bodys metabolism that occurs prior to falling asleep. As melatonin is released, body temperature and blood flow to the brain are reduced, and our muscles gradually lose their tone and become flaccid. What happens next as the person descends into the mysterious world of sleep? Natures Chief Nourisher Approximately two hours after we fall asleep, our eyes begin to quiver quickly back and forth. The observation of this phenomenon led scientists to divide sleep into two basic phases: REM (rapid eye movement) sleep and non-REM sleep. Non-REM sleep can be subdivided into four stages of progressively deeper sleep. During a healthy nights sleep, REM sleep occurs several times, alternating with non-REM sleep. Most dreaming occurs during REM sleep. The body also experiences maximum muscle relaxation, which allows the sleeper to wake up feeling physically refreshed. In addition, some researchers believe that newly acquired information is consolidated as part of our long-term memory during this sleep stage. During deep sleep (non-REM sleep stages 3 and 4), our blood pressure and heart rate reach lower ranges, providing rest for the
circulatory system and helping to ward off cardiovascular disease. In addition, the production of growth hormone peaks during non-REM sleep, with some teenagers producing as much as 50 times more growth hormone at night than during the day. Sleep also seems to affect our appetite. Scientists have discovered that sleep really is, to quote Shakespeare, chief nourisher in lifes feast. Our brain interprets a lack of sleep as a lack of food. While we sleep, our organism secretes leptin, the hormone that normally lets our body know that we have eaten enough. When we stay awake longer than we should, our body produces less leptin, and we feel a craving for more carbohydrates. So sleep deprivation can lead to increased carbohydrate consumption, which in turn can lead to obesity.See the box An Afternoon Nap, on page 6. Page 6 Vital for Health But that is not all. Sleep makes it easier for our body to metabolize free radicalsmolecules that are said to affect the aging of cells and even cause cancer. In a recent study carried out by the University of Chicago, 11 healthy young men were allowed only four hours of sleep a day for six days. At the end of this period, their body cells were performing like those of 60-year-olds, and their blood insulin level was comparable with that of a diabetes sufferer! Sleep deprivation even affects the production of white blood cells and the hormone cortisol, making a person more prone to infections and circulatory diseases. Without a doubt, sleep is vital for a healthy body and mind. In the opinion of researcher William Dement, founder of the first sleep study center, at Stanford University, U.S.A., sleep seems to be the most important indicator of how long youll live. Deborah Suchecki, researcher at a sleep study center in São Paulo, Brazil, comments: If people knew what is going on in a sleep-deprived body, they would think twice about concluding that sleep is a waste of time or just for the lazy.See the box above. But is all sleep restorative? Why do some people sleep the whole night and still feel unrefreshed? The next article will help you identify some of the principal sleep disorders and will explain how you can get quality sleep.
THE EFFECTS OF SLEEP DEPRIVATION SHORT-TERM EFFECTS Drowsiness Sudden mood swings Loss of short-term memory Loss of capacity to create, plan, and carry out activities Loss of concentration LONG-TERM EFFECTS Obesity Premature aging Fatigue Increased risk of infections, diabetes, cardiovascular diseases, and gastrointestinal disease Chronic memory loss
AN AFTERNOON NAP Have you ever felt an uncontrollable drowsiness after lunch? This is not necessarily a sign that you are suffering from sleep deprivation. It is normal to feel sleepy in the early afternoon because of a natural drop in body temperature. In addition, scientists have recently discovered a protein called hypocretin, or orexin, that is produced in the brain and helps keep us awake. What is the connection between hypocretin and food? When we eat, the body produces leptin to give us the impression that we are full. But leptin inhibits the production of hypocretin. In other words, the more leptin there is in the brain, the less hypocretin and the greater the feeling of drowsiness. Perhaps that is why in some countries people take a siestaa break in the workday that allows people to sleep a little after lunch.
"Remember.Research is the key to your cure!"
Current Research Studies Part 1 of 2
Thursday - August 14, 2014 @ 23:25:55
Current Research Studies Part 1 of 2
Below you will find a list of current studies with short summaries. Our next E-news will cover the second portion of the ongoing studies.
7201: Longitudinal Study of the Porphyrias
This study is conducting research for all types of porphyria. Participation in this project will include:
Participating in annual visits or contacts.
Providing samples, including blood, buccal cells (cells from inside of the mouth), saliva, urine and a skin biopsy. The type of samples and amounts may vary from person to person, depending on the type of porphria.
Giving permission for samples to be stored and used for porphyrias research.
Granting permission to obtain your medical records.
Interview to provide information about your medical history and family history.
Completing a questionnaire about your porphyria.
7203: A double-blind, randomized, placebo-controlled, parallel group trial on the efficacy and safety of Panhematin in the treatment of acute attacks of porphyria
This study is conducting research for the following diseases:
Acute intermittent porphyria (AIP)
Hereditary coproporphyria (HCP)
Variegate porphyria (VP)
The research questions are:
To evaluate the effectiveness of glucose and Panhematin compared to glucose alone treatment for acute attacks of porphyria
To evaluate the safety of glucose and Panhematin, compared to glucose alone for acute attacks of porphyria. To be eligible for the research you will have to have frequent and predictable attacks.
7202: Mitoferrin-1 Expression in Erythropoietic Protoporphyria
This study is conducting research for the Erythropoietic Protoporphyria (EPP).
This study will identify the characteristics of erythropoietic protoporphyria (EPP) in the blood. People with EPP have skin sensitivity to sunlight and occasionally develop liver disease. In this study, we hope to learn the nature of the characteristics of EPP in the blood because this may help explain the seriousness of the clinical features.
Please contact the APF for more information or to get enrolled in the studies 713.266.9617.
Upgraded Patient Packet
We also are working on upgrading patient packet. The new edition will include:
Overview of all porphyrias
Panhematin brochure
APF Newsletter
The APF membership information
Letter from Desiree Lyon Howe to patients
How to become an APF Member
The list of all ongoing studies
"Remember.Research is the key to your cure!"
When It Comes to Your Health, Speak Up!
Wednesday - August 13, 2014 @ 00:58:14
The importance of communicating with your
healthcare team
Living with a Porphyria condition means that you may see your doctor
a lot. You likely have regular checkups to keep track of your health.
There also may be times when you have concerns or questions about
the way you are feeling.
Whatever the reason for seeing your doctor, it is important that you
feel comfortable talking freely with him or her about your condition.
In todays busy healthcare environment, the time you have with your
doctor may be brief. But it canand shouldstill be meaningful.
You may have questions. You deserve answers.
You also need to be able to express what youre feeling or thinking about your condition.
It is something you are living with every day.
Being prepared before you go in to see your doctor can help ensure that you address everything you want
to. And the more information you have about your condition, the better prepared you will be to manage it properly.
So please take a few minutes to turn to porphyriafoundation.com to learn about each type of Porphyria, What it is, symptoms, diet and lifestyle, testing, medications and daily living. I encourage you to print copies, write your questions ahead of time, be in charge of the Doctor visit!
For additional information for research projects and help please contact Natalia or Desiree Lyons 1-866-APF-3635
"Remember.Research is the key to your cure!"
A Genetic Legacy Part 1
Sunday - August 10, 2014 @ 20:51:08
A Genetic Legacy
by Lauren Stancheck
Remember.Research is the key to your cure!"
Part 1 When a Dutch orphan, Ariaantje Adriaanse, set sail for South Africa in 1688, chances are she offered more than her hand in marriage. Now, more than 300 years and thousands of descendants later, scientists have uncovered her likely genetic legacy a disease that has spread exponentially throughout the South African population.
Scientists Peter Meissner at the University of Cape Town and Harry Dailey at the University of Georgia have identified the gene mutation that causes variegate porphryia.
Ariaantje Adriaanse, the Dutch orphan who likely carried the porphyria gene to South Africa, journeyed for four months from the Netherlands to Table Bay aboard the China a ship similar to the one depicted here from the same period. In this painting, the Griffioen, a type of ship called an eastindiaman, docks at the foot of Table Mountain, off Cape of Good Hope. Pen painting by Cornelius Pietersz. de Mooij (?-1676). In the 1950s a British doctor noticed South Africas high incidence of a disease called variegate porphyria (poor-FEAR-ee-ah). Using family Bibles to trace lineages, he discovered its genetic nature. Since then scientists have found that variegate porphyria is the second most common inherited disease in South Africa. Several kinds of porphyria have been found in humans, each with its own telltale combination of symptoms. For example, patients with variegate porphyria experience light sensitivity, easily broken skin, and occasional and unpredictable acute attacks involving intense abdominal pain. Various medications, chemicals and even sunlight can trigger these attacks. Scientists like Peter Meissner at the University of Cape Town (UCT) study the disease and its symptoms to better understand how it affects the South African population. Researchers have learned that heme, the iron-rich molecule that transfers oxygen from the blood to cells, plays a key role in the disease. Half a world away, Harry Dailey, a UGA professor of microbiology, biochemistry, and molecular biology and director of UGAs new Biomedical and Health Sciences Institute, is studying the bodys assembly line-like production of heme. Dailey drew the South Africans attention with his research on PPO which stands for protoporphyrinogen oxidase one of the enzymes required to make heme. A defect in PPO is the key element in the onset of porphyria. Producing heme requires eight different enzymes. When any one of these enzymes malfunctions, heme precursors, called porphyrins, build up in the blood. This increase in porphyrins results in porphyria. The human body makes the heme molecules it needs like an assembly line enzymes add each piece sequentially to create the finished product. So anything that affects one part of the assembly line will have an impact on the other part of the assembly line, Dailey said. Science has yet to understand how the overproduction of porphyrins causes the skin sensitivity and abdominal pains. The actual symptoms are, as far as one can tell, really not directly related to the compound heme itself, Dailey said. Porphyria is divided into seven types, depending on which enzyme is malfunctioning. For example, PPO functions at the sixth step in the heme assembly line. Defective PPO results in variegate porphyria, the type most common in South Africa. Daileys lab was the first to purify the PPO enzyme. For this reason, Meissner arranged to do post-doctoral studies in his lab, creating the foundation for a future partnership. Then UCT invited Dailey to South Africa to share laboratory techniques. Two years later, Meissner, now director of the internationally recognized Porphyria Research Unit at UCT and the leading researcher on porphyria in South Africa, again settled temporarily at the University of Georgia to work on another project identifying the mutation responsible for variegate porphyria. Together, Meissner and Dailey first found the normal PPO gene, or the chain of molecules within DNA that acts as a code to make PPO. They then sequenced the gene, or determined the order of the molecules in the gene, using the enzyme Daileys lab had already copied. We had strong clues about what we were looking for and we had samples from patients, Meissner said. My Cape Town lab was sequencing DNA from a patient named Lusinda and so was Harrys lab, because you can get sequence errors. So we both ran the sequences to compare results. To determine the mutation or change in the DNA sequence they compared the normal PPO sequence to that of a person with the disease. The researchers specifically compared the function of the normal and mutant PPO enzymes and found that the mutant PPO results in variegate porphyria. In order to even begin this process, the researchers needed cells containing the mutation. Because variegate porphyria is a dominant inherited trait, an individual only needs one copy of the mutant gene to develop the disease.
Acute Porphyria Patients Are Needed For A Clinical Trial
Friday - August 8, 2014 @ 06:00:01
Acute Porphyria Patients Are Needed For A Clinical Trial
University of Texas Medical Branch in Galveston, TX is recruiting patients with acute porphyria attacks.
During the trial, both glucose and hemin given by an infusion through the veins and are considered standard treatments for attacks of porphyria. Hemin has been on the market since 1983, and based on experience over the past 30+ years is believed to be the most effective treatment. But a good study to prove that it is effective has not been done, and this has impaired its acceptance by doctors and its availability to patients. This study is designed to provide the needed evidence that has not been available before.
The research questions are:
To evaluate the effectiveness of glucose and Panhematin, compared to glucose alone treatment for acute attacks of porphyria
To evaluate the safety of glucose and Panhematin, compared to glucose alone for acute attacks of porphyria.
This is a clinical trial, which means its purpose is to study an intervention or treatment. It is also a randomized, controlled clinical trial, which means there is a treatment group given active drug and a control group given an inactive placebo. In this study, both groups are also treated with glucose, which is what the Food and Drug Administration (FDA) currently recommends before treatment with Panhematin. The study will occur in the hospital, with planned follow up visits in the outpatient clinic or by telephone.
To be eligible to participate in this study, you must:
Be an individual with one on the following, documented by lab reports:
Acute intermittent porphyria (AIP)
Hereditary coproporphyria (HCP)
Variegate porphyria (VP)
Be in an acute attack of porphyria.
Contact the Amy Chapman~ Amy.APF@gmail.com orAPF for enrollment and more details 713.266.9617.
"Remember.Research is the key to your cure!"
HAPPY SUMMER FRIDAY DAY!
Thursday - August 7, 2014 @ 18:10:10
Happy Friday everyone! Forget all the bad things you've encountered this week and have a great weekend.
Over 200 participants will join in-person, and over 5,000 via Livestream webcast during the Global Genes 2014 RARE Patient Advocacy Summit, September 11-12, at the Hyatt Regency Resort & Spa in beautiful Huntington Beach, CA.
Highlights from our agenda
Innovations in Science One of the most exciting things about being a patient advocate is having the opportunity to see behind the scenes in science. All over the world, small labs with big ideas are breaking down barriers between patients and treatments.
Youll have a front row seat to the presentations of four ground-breaking research platforms that are about to change the way we create solutions for rare disease on a global level. These twenty-minute science briefs promise to show new approaches to research and drug development. In each segment, there will be five minutes of Q&A that will allow rare disease non-profits and patient advocates a chance to ask questions, learn more about each project and how its mission will help bring drugs to market more quickly for those in the fight against rare disease. Hear fromProject Violet, Immusoft Corporation, American MedChem andRARE Science. More informationhere.
Benefit-Risk Advocates at this years 2014 Global Genes Patient Advocacy Summit will have an exclusive chance to learn how their voice can make a difference in the fight for faster cures. For critical patients and their families, the risk versus benefit of new treatments has been a simple decision.
Learn fromFasterCures Director of Strategic Initiatives, Kim McCleary, about what these programs mean for rare disease advocates. Youll hear how patient organizations are mobilizing their communities to help inform decisions made by the FDA and industry sponsors so that treatments move more swiftly from the lab to the patients who need them. More information here.
Becoming an Unstoppable Charity At this years RARE Patient Advocacy Summit youll take your first steps towards being unstoppable as Zenzaga CEO, Keegan Johnson, brings you the answers and the attitude it takes to create an unstoppable charity.
What can advocates hope to learn at this session?
Show Me The Funds: How and where do I get more donors? What makes or breaks a fundraiser? How can I put our organization on a plan for financial growth and opportunity?
Get Them Engaged: How can I get people excited about our mission? How can I bring on new volunteers and inspire them? How am I going to get our supporters involved?
Can They Hear Me Now?: How can I effectively tell our story to help our project grow? How do I generate momentum Increase member engagement and learn the same strategies politicians and network-marketing experts use to make their visions reality?
Cant attend in person? Our new Livestream webcastcomponent will allow up to 5,000 advocates from around the globe to attend virtually from their homes or offices via webcast at no cost! The event will be broadcast live with opportunities for patients to participate from afar using social media such as twitter and Facebook, using the hashtag #2014GGSummit.
Read more about the RARE Patient Advocacy Summit here.
I thought this was something to share with you. Life and daily living can be hard so what do we need? Love, support, understanding, energy and a desire to live the best we can. Are you doing your best? Do you need help? Let these words have meaning in your search for having a good, day, week month, year and a life. "Remember.Research is the key to your cure!"
Enjoying The Day My Way!
Wednesday - July 30, 2014 @ 12:45:06
Enjoying The Day My Way!
Enjoying The Day My Way!
I love the Dawn of each day,
even though I know the rays of the Sun are on their way.
American Association for the Study of Liver Diseases (AASLD) will host their annual meeting in Boston Nov 7-11, 2014at the Hynes Convention Center. More than 9,500 hepatologists and hepatology health professionals from across the nation and around the world will gather to discuss the latest in the field. The APF will have an exhibit booth to distribute porphyria medical information and promote porphyria awareness. We need volunteers to help man the booth. You will be meeting with the physician attendees, handing out educational literature, and sharing your porphyria experience with the doctors who come to the APF exhibit booth. If you live in the Boston area and are willing to assist us by manning the exhibit booth, please contact the APF.
The American Society of Hematology (ASH) will host its 56th Annual Meeting in San Francisco, CA, December 6-9, 2014 at the Moscone Convention Center. More than 20,000 hematologist and health professionals in the field will be in attendance. These conventions provide an excellent opportunity for the APF to educate physicians who will be treating porphyria patients. The APF will also have an exhibit booth at the ASH convention, as well as the AASLD. If you live in the San Francisco area and are willing to assist us by manning the exhibit booth, please contact the APF: 713.857.0995 or email us porphyrus@porphyriafoundation.com.
"Remember.Research is the key to your cure!"
Welcome Everyone!
Friday - July 25, 2014 @ 13:37:05
Welcome all new ones. If you have any questions on need any assistance with materials and brochures please feel free to contact the APF for all your needs. 1-866-APF-3635. Also, there are many opportunities to join research projects.
We also have a great blog to learn about the history, did you know and tips about each type of Porphyria.
We are looking for patients to engage in a Natural History Study in collaboration with investigators from the American Porphyria Consortium to learn more about the symptoms and the treatment of patients with Acute Porphyrias.
You may qualify to participate in this study if you have the diagnosis of acute intermittent porphyria, variegate porphyria or hereditary coproporhyria and have experienced at least 3 acute attacks or have used panhematin, normosang, or other medicine to prevent attacks in the last 12 months. This study will not require you to take any new medication or treatments.
Please, contact the APF, or pm me here if you live close OR are willing do drive (the driving expenses will be reimbursed to you) to the following cities: Birmingham, AL; San Francisco, CA; New York, NY; Charlotte, NC; Galveston, TX; Salt Lake City, UT, a
nd in the following countries in Europe: UK, France, Switzerland, Germany, Italy, Sweden, Norway and Finland. ***
"Remember.Research is the key to your cure!"
International Opportunity from the French Porphyria Association
Monday - July 21, 2014 @ 16:10:05
International Opportunity from the French Porphyria Association
Our friends from the French Porphyria Association have a wonderful international opportunity. They are asking all EPP patients and their families, if you would like to participate in international exchange. A young EPP patient (20 years old) would like to come to the US in September. If you would like to be a host family, please let us know. The hosting involves only accommodation, all travel/food expenses are paid by a French party. In turn, a French family will welcome and accommodate you as well. Contact the APF, know if you are interested 713.266.9617.
"Remember.Research is the key to your cure!"
The Longitudinal Study and the CME Course
Friday - July 18, 2014 @ 10:30:01
The Longitudinal Study and the CME Course
The APF is sending out letters to all physicians from our data base about the Longitudinal Study of the Porphyrias. We also provide information about the CME (Continuing Medical Education) course (a free, internet-based activity). The title of the course reads: "The Management of Acute Porphyrias: Improving Diagnosis, Treatment, and Standards of Care".
Target Audience
This activity is intended for gastroenterologists, hematologists, emergency department physicians and nurses, hematologists, oncologists, obstetricians/gynecologists, primary care providers, dermatologists, endocrinologists, nurses, pharmacists, and other healthcare professionals who manage patients with acute porphyrias.
Goal Statement
The goal of this activity is to explore the challenges involved across specialties in identifying and managing patients with acute porphyrias.
Learning Objectives
Upon competition of this activity, participants will be able to:
Detail the history, signs, and symptoms that point toward an appropriate diagnosis of acute porphyria
Discuss the optimal methods for making the diagnosis of acute porphyria
Evaluate acute and long-term porphyria treatment options
Authors & Affiliations:
Herbert L. Bonkovsky, MD, Owen M. Lander, MD, Gale W. Groseclose, RN, BSN.
If you would like us to send your doctor information about the current studies and a CME card, please let us know 713.266.9617.
"Remember..Research is the key to your cure!"
APF History
Wednesday - July 16, 2014 @ 10:30:01
APF History
The American Porphyria Foundation was formed in 1982 when Executive Director Desiree Lyon joined with another individual whose family was affected by porphyria to form a patient-run, expert-advised organization that would educate doctors and the general public about porphyria, raise funds for research, and advocate for better policy and patient care.
At the time, Desiree was a very sick young woman undergoing treatment as an inpatient at the National Institutes of Health in Bethesda, MD. The physician-scientists treating her had explained that Acute Intermittent Porphyria was causing the horrible pain she felt, along with seizures and other neurological disturbances, immense swelling and rigidity of her abdomen, and other alarming and life-threatening symptoms.
As so many of us do when we are first diagnosed, Desiree sought more information about her condition, written in language she or any other person without a medical degree could understand. She got permission from her doctors to walk herself and her IV pole down to the hospitals medical library every day and began reading everything she could find on porphyria. And from that simple beginning, this nearly-30 year old organization was born.
One of the APFs earliest efforts was joining with other rare disease advocates to form the National Organization for Rare Disorders (NORD), and testifying before Congress in the same year in support of the Orphan Drug Act (1983). Panhematin, which remains the only specific treatment for acute porphyria available in the United States, was the first drug to be approved under the ODA.
Since then, we have published materials on all the porphyrias for a patient audience; developed a comprehensive website and the educational DVD Porphyria Live; educated doctors at medical conferences, and through mailings and in-hospital seminars; helped thousands of patients in the U.S. and internationally find their way to diagnosis and treatment; served as liaison between the patient/primary care and research communities; and continually sought funds to improve research and training, diagnosis and care for the porphyrias.
"Remember..Research is the key to your cure!"
Join the Registry
Monday - July 14, 2014 @ 10:30:02
Join the Registry
Join the Porphyria Registry and LET THE GOVERNMENT KNOW THEY MUST PROVIDE FUNDING FOR PORPHYRIA RESEARCH!!!!!
To join the Contact Registry, click here to open a page that lists all of the rare disease consortia. Scroll down the page until you come to the Porphyria Consortium and click on your type of porphyria. You will then be asked to complete a simple form including information about the date of your diagnosis, if you know it. If you have copies of your initial diagnostic lab results, you may want to have them handy when you go to the registry website.
Porphyria experts have created this National Porphyria Registrya type of partnership between doctors and patients as a way for those with porphyria to share information about their health and treatment so physicians can learn from their experience and use that knowledge to enhance diagnosis, treatment and eventually find a cure for porphyria.
It is the best means to prove that there are enough porphyria patients who want improved health care. If we don't speak up, we will be left behind when research funding is given. We DO NOT HAVE ENOUGH PEOPLE ON THE REGISTRY. Please join the registry.
Joining the Porphyria Registry is anonymous and free of charge. All data will be stored in a secure, computerized database. No personal identifying information (such as your name, address, telephone number) will be given to anyone without your expressed approval.
Doctors who study rare diseases see a relatively small number of sufferers over many years of practice. This Registry will give a big boost to medical and scientific understanding of porphyria by bringing together information from patients all over the country.
If you need help enrolling in the registry contact our office toll free at 1-866-APF-3635.
"Remember..Research is the key to your cure!"
Healthwell Foundation Offers Financial Assistance To Acute Porphyria Patients
Thursday - July 10, 2014 @ 12:24:00
Healthwell Foundation Offers Financial Assistance To Acute Porphyria Patients
Krista Zodet, President HealthWell Foundation
We are pleased to join forces with the American Porphyria Foundation to increase porphyria awareness and spread the word about resources available through the HealthWell Foundation for people living with porphyria. Since 2006, the HealthWell Foundation has provided copayment and premium assistance to eligible acute porphyria patients. Through our fully-automated grants process, patients are able to determine eligibility and apply online. Patients also have the option to contact our hotline at 800-675-8416 to speak directly with a HealthWell representative. The HealthWell Foundation is an independent, 501(c)(3) charitable organization that provides financial assistance to insured individuals who struggle with high out-of-pocket medical expenses. You can learn more about the HealthWell Foundation by visiting us at www.HealthWellFoundation.org.
"Remember..Research is the key to your cure!"
The Longitudinal Study and the CME Course
Tuesday - July 8, 2014 @ 18:21:20
The Longitudinal Study and the CME Course
The APF is sending out letters to all physicians from our data base about the Longitudinal Study of the Porphyrias. We also provide information about the CME (Continuing Medical Education) course (a free, internet-based activity). The title of the course reads: "The Management of Acute Porphyrias: Improving Diagnosis, Treatment, and Standards of Care".
Target Audience
This activity is intended for gastroenterologists, hematologists, emergency department physicians and nurses, hematologists, oncologists, obstetricians/gynecologists, primary care providers, dermatologists, endocrinologists, nurses, pharmacists, and other healthcare professionals who manage patients with acute porphyrias.
Goal Statement
The goal of this activity is to explore the challenges involved across specialties in identifying and managing patients with acute porphyrias.
Learning Objectives
Upon competition of this activity, participants will be able to:
Detail the history, signs, and symptoms that point toward an appropriate diagnosis of acute porphyria
Discuss the optimal methods for making the diagnosis of acute porphyria
Evaluate acute and long-term porphyria treatment options
Authors & Affiliations:
Herbert L. Bonkovsky, MD, Owen M. Lander, MD, Gale W. Groseclose, RN, BSN.
If you would like us to send your doctor information about the current studies and a CME card, please let us know 713.266.9617.
"Remember..Research is the key to your cure!"
History of Porphyria
Thursday - July 3, 2014 @ 10:30:00
History of Porphyria
A Little Bit of History
1841 The term porphyrin comes from the Greek word, porphyus, meaning reddish-purple. It was first thought that the reddish color of blood was from iron. One early scientist performed an experiment to prove that this was not the case. He washed dried blood with concentrated sulfuric acid to free the iron. He then treated it with alcohol and the resulting iron free residue took on a reddish purple color though it contained no iron compound
1844 - Gerardus Johannes Mulder determined the chemical composition of this purplish, iron free substance, which he named "hematin," He also illustrated that hematin took up oxygen.
1867 - J.L.W. Thudichum described the beautiful spectrum and fluorescence of these red porphyrins after he published his first book on the analysis of urine.
1871 - Felix Hoppe-Seyler crystallized hematin and described its spectrum. He then demonstrated that the crystalline form differed from one animal species to another. Using his own newly constructed gas pump, he found that oxygen formed a loose, dissociable compound with hemoglobin, which he called "oxyhemoglobin." He renamed the iron free hematin hematoPorphyrin.
1874 - Dr. J.H. Schultz described a case of a 33-year-old male weaver who suffered from skin sensitivity, an enlarged spleen and reddish urine since he was an infant. He called the condition pempigus leprosus. His was most likely the first description of protoporphyria. Dr. Schultz was later credited with giving the disease its name.
1880- MacMunn described a patients dark reddish urine of a patient with symptoms of an attack of acute Porphyria.
1888 Shortly after, sulphonal was introduced as a hypnotic drug, Joseph Stokvis had a patient who, after taking the drug, excreated the tell-tale dark reddish urine typical of porphyria. The elderly woman then became paralyzed and died. Stokvis deducted that the pigment in her urine was the hematoporphyrin.
1889 - B.J.Stokvis published the first case and clinical description of acute hepatic porphyria.
1890 - George Harley (1829-96) studied a 27-year-old who also excreted reddish urine and an "unusual nerve disturbance after taking sulphonal.
1898 - T.McCall Anderson described two brothers had eruptions with burning and pruitus on the sun exposed areas of their skin so severe that they lost part of their ears and nose. They exhibited dark urine.
1898 - Alfred F. Harris demonstrated that the urine of both brothers contained the hematoporphyrin group.
1906 - Dr. Max Dobrschansky described the first case of acute porphyria after a patient had a barbiturate.
1911 - H. Gunther classified the diseases of porphyria, including congenital erythropoietic porphyria (CEP), which he called congenital hepatoporphyria, the rarest porphyria.
1913 - Dr. Friedrich Meyer Betz injected himself with hematoporphyrins to determine their photodynamic impact . He subjected himself to the sun and became so photosensitized that the extremely painful photosensitive effect lasted several months. The photos of Dr. Betz taken hours after he injected himself illustrated his badly swollen face. He was unrecognizable until the swelling decreased. The-experiment is used today in dermatology text books. View these photos on the APF website.
1915 - Hans Fischer studied one of H. Gunthers patients, Mr. Petry, who had the rare type of Porphyria, CEP. Using data from Mr. Petrys case, Fischer provided significant insight into the chemistry of porphyrins. He also found that uroporphyrins and coproporphyrins were different from hematoporphyrins and subsequently suggested that the hemato prefix be dropped.
1923 - A. E. Garrod credits H. Gunther with first recognizing that hematoporphyria was, in fact, an inherited metabolic problem in his manuscript, Inborn Errors of Metabolism. This is the first time the term "inborn errors" of metabolism had been ever used for a group of inherited metabolic disorders and the year CEP was first identified.
1937 Dr. Jan G. Waldenstrom suggested that the name of the diseases of porphyrin metablolism be porphyrias rather than Hematoporphyrias. Using Paul Ehrlichs aldehyde reagent, Waldenstorm identified 103 patients with acute porphyria by testing their urine and noting the red color. He discovered that asymptomatic family members of these patients also had the same reaction if they ingested even small amounts of barbiturates and sulphonal. 1949 -Dr. Cecil J. Watson identified cases in which there were excessive amounts of coproporphyrins in the stool and urine and suggested that this was caused by an inborn error of metabolism. He continued his research in the United States, where he and Dr. Samuel Schwartz discovered a fundamental test, , the "Watson-Schwartz tests".
1954 - R. Schmid, Samuel Schwartz and Cecil. J. Watson classified the porphyrias according to the porphyrin content in the bone marrow and liver.
1955 - A. Goldberg and H. Berger showed that individuals with an excess of coproporphyrin had another inherited form of porphyria that they called hereditary coproporphyria. HCP is an autosomal dominant form of hepatic porphyria that is very similar to acute intermittent porphyria, except that some patients develop skin photosensitivity, too.
1960's Earnest Porphyria research in Europe and US.
1961 - Heinrich Gustav Magnus described erythropoietic protoporphyria (EPP) as a genetic disorder arising from impaired activity of ferrochelatase, which is what adds iron to protoporphyrin to form heme.
1970-2011 - Drs. Anderson, Desnick, Bissell, Bloomer, Bonkovsky,, Bottomley, Dailey, Galbraith, ,Kappas, Kreimer-Birnbaum, Kushner, Lamon, Levere, Levine, Mathews-Roth, McDonaugh, Nichols, Peters, Sinclair, Pimstone, Pierach, Poh-Fitzpatrick, Sassa, Shedlofsky, Schmid, Sassa, Tishler, Tschudy, Watson,, Phillips and many others too numerous to name have furthered porphyria research and have bettered the health care of all of us with Porphyria. We owe all these people a great debt and a great measure of thanks.
2008-2011- The APF Protect the Future program to train the next generation of experts was initiated. We are grateful for the newest experts; Drs. Manisha Balwani, Lawrence Lui, Gagen Sood, Manish Thapar, Bradley Freilich, Charles Lourenco, Brenden McGuire, Bruce Wang, Majid Rizk, Guiherme Perini, Jennifer Guy, Jeffery Wickliffe,, Aswani Singal, Sajid Mittal,Charles Parker.
"Remember..Research is the key to your cure!"
Read about our new PTF DR Siddesh Besur MD, FACP
Tuesday - July 1, 2014 @ 17:00:31
Siddesh Besur, MD, FACP The APF welcomes a new Protect the Future (PTF) trainee, Dr. Siddesh Besur. He is doing his fellowship in porphyria during July 2014-July 2015. Dr. Besur will be available for patients in the Charlotte, NC area. He completed the Transplant Hepatology Fellowship in Carolinas Medical Center/University of North Carolina in 2013-2014. Dr. Besur also was a Clinical Fellow Internal Medicine at Royal Glamorgan Hospital in United Kingdom during 2003-2004, and a Fellow in Internal Medicine in Senior House officer at University Hospital of Wales in United Kingdom during 2000-2003. A few of his Awards and Honors include:
â?¢ Master in-patient teaching physician -outstanding teacher award in 2012, 2013
â?¢ Faculty Investigator award -Michigan State University-FAME in 2013
â?¢ Elected fellow of American College of Physicians (ACP) in 2011
â?¢ American Society of Transplantation travel grant in 2013
â?¢ Presidential poster award -American College of Gastroenterology in 2012
â?¢ First prize - Research presentations at Southern Hospital Medicine in 2011
â?¢ First prize -Health policy and medical education presentations at Michigan State Medical Society (MSMS) in 2011
â?¢ First prize-Quality Improvement (QI) presentation at American College of Physicians (Michigan chapter Associates day) in 2011.
We are glad to have Dr. Besur as one of our PTF trainees. The PTF program was initiated to train young doctors as the next generation of porphyria experts. Each trainee studies with one of the porphyria experts for a lengthy period of time, as well as attends educational meetings. Your donations support this important program. Please consider your participation with the donations marked as "For PTF". Thank you!
"Remember..Research is the key to your cure!"
About Porphyria!
Wednesday - June 25, 2014 @ 10:00:03
About Porphyria!
Porphyria touches people of all ages, races, and incomes. There may be one who suffers from Porphyria in your state, or even closer. One thing I really appreciated was hosting an IN TOUCH meeting from the APF, they did most of the leg work for us. I teamed up with another member who I had never met that had AIP, we discussed a central location, date time and place. (Hint, if it's a smaller gathering check out at a hospital setting- meeting room, if you explain what you want to discuss you have extras show up such as Nurses and Doctors) this is really a great way to explore the field of rare disease. The American Porphyria Foundation sent out invitations to all those in the surrounding area and we had over 30+ people show up. We supplied bottled water, tea, coffee and some fruit and a small cake and cookies nothing fancy. I was able to spend time learning about others types of Porphyria and how it has affected their life. Some who even ask me to share my story and I did. Its so important to learn for self, a loved one and also educate by the printed pages that the APF sent out to us in advance, brochures, letters, pictures of the staff and Doctors and this was at no cost. So that is why I became a member of the APF they have helped me personally so many times. So back to my story, There are no rules when talking with a person who has porphyria because each person and situation is unique. So I really encourage each one to think about not only becoming a member of the APF but also hosting and getting in touch, in person with a fellow friend that shares this same disease. THE APF SUPPORTS US! Lets show our support back so please give them a call if you would like to host or come to an IN TOUCH meeting or become AN APF member today! 1-866-APF-3635 Next week learn more on the types of Porphyria! "Remember.Research is the key to your cure!"
Listen with Your Heart- Part One
Sunday - June 22, 2014 @ 21:13:50
When someone close to you who has Porphyria starts to talk about the disease, do you change the subject? Do you stand in silence, worried that you'll say the wrong thing? Say nothing at all and walk away? Are you tired about hearing about the problems? If so, you share these feelings with many others.
How do you talk to someone who has Porphyria? When talking with someone who has Porphyria, it is important to listen. Try to hear and understand what the person is saying about he or she feels. Don't make light of what he or she is saying or try to change the way they are feeling or acting. Put your feelings and fears aside. Let the person know that you are open to talking whenever they feel like talking. Or if the person doesn't feel like talking that's OK, too. In these series I wanted to share some helpful ideas on how to be supportive and helpful when you talk to someone who has Porphyria. You can learn how to make the person with Porphyria know that they have someone they can truly count on. We call this kind of communication "listening with your heart." Next week well touch on how Porphyria affects the person, the mate, family members and friends and why we need your support, love time and attention. "Remember.Research is the key to your cure!"
10 Things to Remember When You Feel Lost and Alone- Leave your thoughts and comments
Wednesday - June 18, 2014 @ 16:55:08
10 Things to Remember When You Feel Lost and Alone
Charles Bukowski
This morning I felt lost and alone as I was driving home after a brutal breakup with my boyfriend. I turned on the radio and the Michael Jackson song You Are Not Alone was playing. A few seconds later, at the exact moment the chorus began, I passed a huge billboard sign with big black letters that read, YOU ARE NOT ALONE!
Thats the opening paragraph of an email I received today from a reader named Ella. It made me smile because I love when life delivers seemingly coincidental, positive messages like that, right when we need them most.
However, the rest of Ellas email further described her ongoing struggle with feeling lost and alone in life. Which got me thinkingâ?¦
Why do people have to feel this way? Whats the point of it all? Millions of people in this world, all of them craving connection, and looking for specific experiences and people to satisfy them, yet inadvertently isolating themselves in the process. Why? Was the planet put here just to nourish our loneliness?
The more Ive experienced and explored my own feelings of uncertainty and loneliness, the more Ive realized how necessary these feelings are. Its good for us to spend time exploring unknowns, alone. It gives us an opportunity to discover who we really are and what life is all about.
Here are some things to keep in mind when you feel lost and alone:
1. You are not alone in being alone.
So many of us are fighting the same exact battle alongside you. We are all in this together. So no matter how embarrassed or pathetic you feel about your own situation, know that there are others out there experiencing the same emotions. When you hear yourself say, I am all alone, its just your worried mind trying to sell you a lie. Theres always someone who can relate to you. Perhaps you cant immediately talk to them, but they are out there, and thats all you need to know right now.
2. Sometimes when youre lonely, you need to be alone.
Sometimes you need to be alone, not to be lonely, but to enjoy a little free time just being yourself and finding your way. In other words, the moments you feel lonely are the moments you may most need to be by yourself. This is one of lifes cruelest ironies.
We need solitude, because when were alone were detached from obligations, we dont need to put on a show, and we can hear our own thoughts and feel what our intuition is telling us. And the truth is, throughout your life there will be times when the world gets real quiet and the only thing left is the beat of your own heart. So youd better learn the sound of it, otherwise youll never understand what its telling you.
3. You have to be a little lost first to find what youre looking for.
Not until you are lost in this world can you begin to find your best path. Realizing you are lost is the first step to living the life you want. The second step is leaving the life you dont want. Making a big life change is pretty scary. But you know whats even scarier? Regret.
I can tell you from my own life experience that Ive found love, lost it, found it, lost it and then I found it once again. But each time what I found was more incredible than the last. So remember that everyone suffers in life at some point. Everyone feels lost sometimes. The key is using your experiences to grow. When you apply what youre learning to your future choices and actions, you move forward not backward. You become stronger and wiser. Its not easy, but its worth it in the end.
4. Its all about accepting the reality of what is.
You cannot find peace by avoiding life. Life spins with unexpected changes; so instead of avoiding it, take every change and experience as a challenge for growth. Either it will give you what you want or it will teach you what the next step is. And remember, finding peace in life does not mean to be in a place where there is no noise, no challenges, and no hard work. It means to be in the midst of those things while remaining calm in your heart.
Honestly, life is too short to spend at war with yourself. The biggest disappointments in our lives are often the result of misplaced expectations. Letting go of needless expectations is your first step to happiness. Come from a mindset of peace and acceptance, and you can deal with almost anything and grow beyond it.
5. In every situation, YOU choose your attitude.
Be determined to be positive. Understand that the greater part of your misery or unhappiness is determined not by your circumstances, but by your attitude. A happy person is not a person whos always in a good situation, but rather a person who always has a good attitude in every situation. So smile at those who often try to begrudge or hurt you; show them whats missing in their life and what they cant take away from you. Doing so doesnt mean forgetting or giving in, it means you choose happiness over hurt.
6. Being alone does not mean you are lonely, and being lonely does not mean you are alone.
The trouble is not always in being alone; its being lonely in the presence of others. One can be lonely in the midst of a crowd. Wouldnt you agree? So keep this in mind and choose your relationships wisely. Its always better to be alone than to be in bad company. And when you do decide to come back for someone, do so because youre truly better off with this person. Dont do it just for the sake not being alone.
7. Everyone you care about does NOT need to support your decisions.
Friends and family wont always support your goals, but you must pursue them anyway. Follow your intuition. Following your intuition means doing what feels right, even if it doesnt look or sound right to others. Only time will tell, but our human instincts are rarely wrong. Even if things dont turn out as you anticipated, at least you wont have to spend the rest of your life wondering what could have been. So dont worry about what everyone else thinks; just keep living and speaking your truth.
Ultimately, you know youre on the right track in life when you become uninterested in looking back, and eager to take the next step, regardless of what anyone else thinks.
8. You are not who you used to be, and thats OK.
Youve been hurt; youve gone through numerous ups and downs that have made you who you are today. Over the years, so many things have happened things that have changed your perspective, taught you lessons, and forced your spirit to grow. As time passes, nobody stays the same, but some people will still tell you that you have changed. Respond to them by saying, Of course Ive changed. Thats what life is all about. Im still the same human being, just a little stronger now than I ever was before.
9. The best you can do changes from day to day.
Always do your best. And realize that your best is going to change repeatedly. For instance, it will be different when you are healthy as opposed to sick.
Under any circumstance, simply do your best in the present moment and you will avoid self-judgment, self-abuse, and regret. And remember that no matter whats happening, you can efficiently fight the battles of just today. Its only when you add the battles of those two abysmal eternities, yesterday and tomorrow, that life gets overwhelmingly complicated. Its necessary, therefore, to let yourself live just one day at a time just today just right here, right now. And do the best you can in it.
10. It all matters in the end every step, every regret, every smile, and every struggle.
The seemingly useless happenings add up to something. The minimum wage job you had in high school. The evenings you spent socializing with colleagues you never see anymore. The hours you spent writing thoughts on a personal blog that no one reads. All of this has strengthened you. All of this has led you to every success youve ever had. All of this has made you who you are today.
The floor is yoursâ?¦
What helps you stay positive when you feel lost and alone? Whats something encouraging you try to keep in mind when youre up against lots of uncertainty? Leave a comment below and share your thoughts.
Since the day he was born, our baby Oliver has been through more than most of us have in our entire lives. Without warning I was told that Oliver needed to come out early due to compl more
Wow, this past week has been busy to say the least, and it's still not over. Last Tuesday, Oliver spiked a temperature that raised some concern. Now because Oliver has a central line, we were automatically admitted. Turns out he had an infection in his line, which was really scary. They pumped him full of antibiotics and luckily they got the infection under control. Meanwhile, Danny was stuck at home finishing packing and moving our entire house without my help. Thanks to all who came out and helped out with that, we really needed it. Five nights later we were set to go home, our new home, and I had to learn how to administer IV antibiotics through his line. Can't say, I ever thought I would learn how to do that. Today I received a call. THE call. We finally have a date. Our donor has picked their harvest date and we are set for Chemo on September 23rd. Its finally happening, and I'm not sure how I feel. I'm just ready to get this done and over with. Being in isolation just for those 5 days, gave me a taste of what we're in for, and I'm not excited. Either way, I am so happy that after everything is all said and done, Oliver will be disease free! Thanks again for all your support. Without you, we would not have the strength to get through this. I will continue to update you as soon as information becomes available. Please continue to share this with your friends and extended family. It's because of you we've got this far.
Updated posted by Nichole Zimmardo 10 months ago
I am in utter awe with all of the support that I receiving. Words can not describe the utter gratitude I have for all of you. Thank you so much.
Oliver is getting closer and closer to transplant, which leaves us with mixed emotions; Excited, anxious, nervous, impatient, scared. They set him up for another liver biopsy next tuesday to make sure his liver is functioning well enough to survive the chemotherapy. After that, then they are going to decide whether they want to use bone marrow or cord blood. If they choose cord blood, Oliver could very well be admitted into transplant in 2 weeks. If they choose bone marrow, it could take up to another month. I know they will choose the best route for him, but I'm just so anxious to get this done and over with.
Please keep your thoughts and prayers coming the way.
Since the day he was born, our baby Oliver has been through more than most of us have in our entire lives. Without warning I was told that Oliver needed to come out early due to complications with little to no amniotic fluid. The doctors nor us had any idea what we were in store for. At 35 weeks, November 14, 2012 Oliver Douglas Stanek was born. He was at a healthy weight of 5 lbs 5 oz for his age. At first glance we thought nothing was wrong, he looked like a healthy little boy! Who knew that within the last 24 hours, things could take such a dramatic turn.
Oliver was born with renal and liver failure. His bilirubin levels were off the charts and it seemed like the doctors had given up hope. There is nothing worse than the thought of losing your child. It's something that no one dare think about, and yet we were living in it. Thursday to Sunday had to be the longest 4 days of my life. When Sunday came around, it was like a miracle was happening. Oliver started showing signs of progression. Our little baby was healing himself. Words can not explain the joy we felt that day. The doctors were baffled, still trying to figure out what was wrong with him, or why this even happened. We had a few potential diagnoses, but nothing that really made sense.
Finally, after 2 and half months spent in the NICU, he was finally well enough to go home and treated out patient. This was so exciting for us, knowing our little baby was finally going to come home with us! Oliver has been such a joy to be around. His demeanor is so calm and happy, you wouldn't even know he was sick. Since then Oliver has been suffering from frequent blood transfusions and multiple skin lesions.
After 8 months of scratching our head, something had finally come into light. Oliver was diagnosed with Congenital Erythropoietic Porphyria (CEP); an extremely rare metabolic disorder affecting the production of heme. At first it was hard to believe because this disease is so rare, only 250 reported cases in history have been made. How could this be? CEP causes porphyrins to build up in your bone marrow, and the skin, causing shortening of life of red blood cells and extreme photosensitivity to sunlight and artificial light; a living vampire. In some cases it is known to effect the Liver and Kidneys as well. Things were starting to make sense, since he was severely burned on the whole left side of his body from the phototherapy to decrease his bilirubin. Which at the time, was another mystery. Not mention the fact that he suffered from multiple bone fractures due to vitamin D deficiency.
Fortunately, due to recent studies, there is a cure for his symptoms through chemotherapy and bone marrow transplant (BMT). This means Oliver can live a normal happy life! This doesn't mean he disease free, it just means he wont be symptomatic. We are currently in the process of BMT and we are looking to be admitted into the hospital in the next month. (Hopefully)
Everyone's support as been overwhelmingly helpful. Without our friends and family, I'm not sure we could have done this. I'm not one to ask for help, but I have come to the realization that our family is in dire need of it. Oliver's medical bills are accumulating. Even with our health insurance we have close to $20,000 in medical bills already and plenty more to come. I don't even want to think of how much this next hospital stay is going to cost. Really, anything helps. Even if its only $5, we would appreciate anything. Please be a part of Oliver's recovery and we will be forever grateful.
Thank you for taking the time to get to know Oliver, and his journey through his first year of life. Thank you again for your ongoing support, and God bless.
"Remember.Research is the key to your cure!"
"Longitudinal Study for All Porphyrias"
Monday - June 16, 2014 @ 14:04:26
"Longitudinal Study for All Porphyrias"
The 6 Porphyria Consortium sites:
§Dr. Robert Desnick, Mount Sinai School of Medicine, New York City, NY
§Dr. Herbert Bonkovsky, Carolinas Medical Center, Charlotte, NC
§Dr. Karl Anderson, University of Texas Medical Branch, Galveston, TX
§Dr. Joseph Bloomer, University of Alabama, Birmingham, AL
§Dr. John Phillips, University of Utah School of Medicine, Salt Lake City, UT
§Dr. Montgomery Bissell, University of California, San Francisco, CA
are conducting a 5 year study on all of the porphyrias sponsored by a grant from the Rare Diseases Clinical Research Network (RDCRN) of the National Institutes of Health (NIH).
§PURPOSE: To learn more about the course of the disease by understanding its natural history, symptoms and medical treatment.
§PARTICIPATION CRITERIA: You must have a diagnosed case of porphyria.
§INVOLVEMENT:
o1st Phase - Enrollment - This requires a site visit where your information - history and labs - will be collected. If travel to the site is not possible, please call the site coordinator to discuss your other options.
o2nd Phase - One time annual follow-up, preferably at the site each year for 4 years.
If you are interested and/or have any questions, please call Desiree Lyon Howe on her cell phone: 713.857.0995
"Remember.Research is the key to your cure!"
Pick Your Brain Why do I feel this Way?
Friday - June 13, 2014 @ 10:30:00
10 All Natural Ways to Stop Feeling Depressed
Life is a drag.
Whats the point of anything?
Ill never be happy.
Do any of these gloomy thoughts sound familiar? Its likely they do. The occasional case of the blues is perfectly normal, but that doesnt make dealing with it any easier. If you allow them to, negative thoughts can fester and lead to serious depression. Thats why its important to take action early to bust yourself out of a slump.
While these suggestions wont eliminate your problems, they can help you break a negative thought pattern and stop feeling depressed. If you think you might have a serious mental health problem, dont hesitate to see a medical professional.
1. Understand the emotional cycle Life is an emotional roller coaster. Some days you feel like nothing can stop you. Other days you feel utterly hopeless. Most of the time youre somewhere in between. Understanding the pattern of positive and negative emotions will help you put your feelings in perspective. Next time you feel down, just remember that its a natural emotion that will inevitably pass. Knowing that a feeling of depression is only temporary makes it less dreadful.
2. Spend time with positive people Nothing affects the way you think and feel more than the people you interact with. Thoughts (both positive and negative) are contagious. If you are surrounded by negative people, its only natural that youll start to think and feel the same way. To improve your outlook on life, spend time with positive people. Search them out and try to understand the way they see the world. Chances are their happiness will rub off.
3. Reflect on past success In the wake of a colossal failure, its easy to forget everything youve ever done right. Take a few minutes to remember your past accomplishments and build yourself up. What made you successful before? What are your strengths? Frequently, this exercise will build self confidence, help you figure out what went wrong, and generate ideas for success in the future.
4. Focus on gratitude Its human nature to measure ourselves against those ahead of us on the social ladder. Studies have shown that people care more about being richer than their friends than actually making more money. When you consider everything good in your life and compare it to the problems of less fortunate people, the issue thats making you depressed wont seem as serious.
5. Change of scenery One of the best ways to change the way you feel is to change your environment. When you get in a slump, you start to associate your problems with everything around you. It can get to the point where your environment is a constant reminder of your problems. This can be a dangerous cycle. The solution is to change things. Change doesnt have to be radical. Cleaning up, adding more lights, or including pleasant decorations can completely change the mood of a room.
6. Break your routine - Going through the same routine, day after day, can be monotonous and depressing. It often leads to getting caught in a rut. To get out of it you need to temporarily change your routine. If you can, take a day off from work. Do something you dont normally have time for or something youve never tried. In the long run, taking a day off every now and then to get out of slump will make you happier and more productive.
7. Interact with animals and nature Its funny when you consider how humans put so much importance on their own tiny problems. Animals dont think this way. A little bird doesnt mope around because it isnt an eagle or because another bird beat it to a tasty seed. Animals live in the present moment and they show love unconditionally. Observing and interacting with them will help you get over your problems.
8. Get moving As Johnny Cash famously suggested, Get a rhythm, when you get the blues. Moving to a beat makes everyone feel better. The same is true for movement in general. Hitting the gym or going for a walk will help you shed the lethargy that comes with feeling depressed. The more enthusiastic your moments, the better you will start to feel.
"Remember.Research is the key to your cure!"
You shop. Amazon Gives. Your shopping supports the American Porphyria Foundation
Thursday - June 12, 2014 @ 19:33:52
Amazon will donate 0.5% of the price of your eligible AmazonSmile purchases to American Porphyria Foundation whenever you shop on AmazonSmile.
AmazonSmile is the same Amazon you know. Same products, same prices, same service.
Support your charitable organization by starting your shopping atsmile.amazon.com.
Read more about the importance of testing for porphyria on our website: porphyriafoundation.com
Tuesday - June 10, 2014 @ 12:23:53
Read more about the importance of testing for porphyria on our website http://www.porphyriafoundation.com/testing-for-porphyria Let the APF know if you would like an educational packet to be sent to your doctor or/and you would like to receive a patient packet.
The porphyrias are readily diagnosed by laboratory testing, especially at or near the time of symptoms.
PORPHYRIAFOUNDATION.COM
"Remember.Research is the key to your cure!"
Are YOU Interested In Research On Rare Diseases? Event Day June 12 & 13
Monday - June 9, 2014 @ 20:06:02
Hi all APF members family & friends. If you have not signed up for the RDCRN~ contact registry or need assistance, I will be contacting you over the next two days this week Thursday and Friday- June 12 & 13 from the hours of 2-9pm Eastern time zone.
Please schedule a 10-15 minute phone call and have your date of diagnosis or approximate date with you.
If you are unsure about what this registry is please feel free to look below and if you want to enroll yourself please feel free to do so at this link. You can also email me your name & number to Amy.APF@gmail.comor call the APF office @ 866-APF-3635. We really need volunteers as projects are currently running and future research projects start. Will you show your support for research?
Please reach out! Its a wonderful opportunity that you will not want to miss out on.
Are YOU Interested In Research On Rare Diseases?
Have study information sent right to your inbox!
Receive the most current information on:
·:: open recruitment for clinical studies of your disease
·:: opening of new clinical sites doing research on rare diseases
·:: activities from affiliated awareness and advocacy groups
and future opportunities to participate in research!
YOU can help in the fight against rare diseases
http://rarediseasesnetwork.epi.usf.edu/index.htm
"Remember.Research is the key to your cure!"
Porphyria Television and other Media
Wednesday - June 4, 2014 @ 15:09:42
Back by Popular demand tired of the reruns on TV try out some of these shows about Porphyria.
Porphyria Television and other Media
The following is a list of Television, and Other Media that have featured Porphyria.
*House:
Honeymoon, Season 1: episode 22
Fools for Love, Season 3: episode 5 (mentions porphyria)
Finding Judas, Season 3: episode 9
Dont ever Change, Season 4: episode 12 (mentions porphyria)
Guardian Angels, Season 4: episode 4 (mentions porphyria)
Whatever it takes, Season 4: episode 6 (mentions porphyria) Itch, Season 5: Episode 7
Emancipation, Season 5: episode 8 (mentions porphyria)
Let them eat cake, Season 5: Episode 10
Carrot or Stick, Season 7, Episode 10
*Scrubs:
My Ocardial Infarction: Season 4, Episode 13
Kelsos last stand,Season7: episode 9
My Dumb Luck, Season 9: episode 7
Outta here like Vladimir: Season 8, Episode 4
*Grays Anatomy, Time Warp Season 6 episode 15
*Castle, Vampire Weekend, Season 2 , Episode 6
*Doc Martin, Series 4, Episode 2
*CSI Las Vegas, Justice Served Season 1 Episode 21
*CSI Las Angeles, Once Bitten , Twice Damned Season 2 Episode ?
*ABC News Specials, Medical Mysteries Series, episode 2
*ABC News Desiree Lyon interview *ABC Prime Time CEP segment
*Mystery Diagnosis:
The Sickest Patient in the Hospital and Terrifying Tremors, Season 5
The Boy Who Kept Swelling, Season 6 episode 6
*Mystery ER, Seeping through the cracks/Purple Haze, Season 1: episode 3
*Secret History: Purple Secret in Search of Royal Madness, Season 6: episode 6
*Montel Williams:
Porphyria with Lauren Warren
Rare Diseases, Leppert Family
*Travel Channel, Documentary Romania
*Learning Channel Dec 09 Porphyria, another myth in the making.
*Fox News:
Desiree Lyon interview
Vampires, A Medical Myth Nov 2009
King George, Madness or Arsenic July 2005
*BBC news Desiree Lyon
*Sanjay Gupta CEP patient, Kasey Knauf CEP
*Anderson Cooper 360 CEP
*CNN documentary on CEP patient, Kasey Knauf
*CNN interview Desiree Lyon (CNN HERO)
*Dr. Oz EPP patient, Craig Leppert
*National Geographic; Feb 2010 Six Ways to Stop A Vampire
*Court TV
*Parade Magazine, Desiree Lyon Howe story, Parade Magazine, Porphyria, Rare Disease Feature New York Time Magazine-Sunday, Perplexing Pain: Porphria Article
*The Madness of King George (1994) & (2005) Movie
*NBC Evening News, Thurs. May 31 185Dr. Bruce Spielgaman WBZ Aug 25 2005 Jenkins, Mark Collins. Vampire forensics: Uncovering the origins of an enduring legend. Washington: National Geographic, 2010. 303pp. Porphyria Featured on Television
HAPPY VIEWING! "Remember.Research is the key to your cure!"
PTF Program and YOUR DONATIONS!
Monday - June 2, 2014 @ 10:30:02
Please consider making a donation to the PTF program. Yours and your children's future health depends on each of us supporting the training of doctors who will know how to treat us and perform research when our present experts retire. We have the opportunity to fund this training now so that the present expertise is not lost. Please send your donations to the APF and mark them PTF. They will be placed in the PTF fund to be used for the training of young doctors as future porphyria experts. Thank you for your support. If you have any suggestions or questions, please contact us at 713.266.9617. "Remember.Research is the key to your cure!"
How To Deal With People Who Don't Believe You're Sick
Saturday - May 31, 2014 @ 12:54:00
How To Deal With People Who Don't Believe You're Sick
I look perfectly healthy, but the truth is, I suffer from a rare health condition called Porphyria Disease (or, AIP, HCP, VP, ALAD, EPP, CEP, X-Link, and PCT ). I can sit in front of you at lunch and I can safely promise you that you would not see a single symptom that is raging beneath my smile.
Yet I can be thriving for three hours and curled up in my bed nauseated, dizzy and weak for the next six hours. I can be on the go for days and lying in a hospital bed the week after. My body throws me a surprise party often and as surprises go, you don't see them coming. And if it is difficult for others to understand, imagine what its like me to live with the fact that I don't know whats coming next.
If you have a chronic health condition, chances are youve dealt with people who refuse to believe that you suffer from your illness (as if you need yet another thing to deal with on top of your illness). If you don't have a chronic health condition, chances are you know someone who does and youve watched this happen to them.
Adding a layer of skepticism to an illness is not something that anyone should have to deal with, but it may be worth taking a moment to explain your condition to those around you.
Below are my best tips as to how to effectively communicate with people who question your illness. Once you master this, you are going to feel less stressed, more confident in your speech and much stronger.
Ready to change how you handle those who doubt?
1. Be concise. Be clear. Be confident.
You are going to master the three Bs when you respond to anyone who doubts your health condition. And what you are not going to do is apologize for it. It's not your fault.
When someone says, You dont even look sick, youre going to respond kindly: Thank you, but I am and it's a daily challenge. If you want to learn more about my health condition, please just ask'. Period.
If you have to cancel that party you are going to? Try, "Im symptomatic this evening and will not be able to come. I am looking forward to seeing you next time. Period. Focus on how you react to what others say. Dont waver. Look people in the eyes and speak sincerely with the added 'three Bs.
2. Silence the skeptic.
This person just refuses to believe you. Often, they come out and tell you, Maybe youre just depressed, or, Mind over matter! Kindly Educate. You are going to kindly educate but are only going to do this once.
So, an appropriate response to someone blatantly questioning your illness at all is, "I'd love to educate you on my health condition and symptoms if and when you would like to listen. Would you like to go to lunch to talk about it?
You are not going to defend yourself. You are not going to justify. And you are especially not going to mention any of their alternative theories. If they say yes, then you grab a bite to eat and explain to them what is going on. If they continue to question you, get the check and politely leave no explanation necessary.
3. Create boundaries.
Create boundaries with yourself and others. Be upfront with your friends and family that because your health is unpredictable, you typically will be a maybe at events. Set expectations for people that are realistic. This will save you a tremendous amount of frustration.
Secondly, create boundaries regarding who you are willing to surround yourself with. Before getting mad at those that question you, ask yourself if you have thoroughly explained what youre going through. If people continue to question you, my best advice is to distance yourself or remove them from your life. Do not be harsh when creating and sharing boundaries. You want to make others feel loved and not stonewalled.
4. Lose the guilt.
This is a simple tip. When you cancel or pull back on your busy schedule, do so with the utmost love for yourself and with self-care. Lose the guilt and especially lose the worry of what others will think. WRevel in your healing!
5. Join a support group.
Joining a support group is going to aid in buoying you. This will help you while you are changing the way you communicate with others. Research and try out a few support groups because what you want to do is surround yourself with others who are focused on healing and living life. FB APF groups we have and support all types
When you combine these five steps, I absolutely promise you that, without fail, your confidence level will soar while your communication skills are refined and youll feel better dealing with this difficult part of your illness!
"Remember.Research is the key to your cure!"
Amanda Boston ~ Panhematin Story
Friday - May 30, 2014 @ 12:51:00
Amanda Boston ~ Panhematin Story
Type of Porphyria:
Variegate Porphyria (VP)
I had the most amazing privilege participating in the 7203: A double-blind, randomized, placebo-controlled, parallel group trial on the efficacy and safety of Panhematin in the treatment of acute attacks of porphyria research study. I met two amazing Doctors that I had only spoken with through email and telephone: Dr. Karl Anderson and Dr. Akshata Moghe.
The research was performed in Galveston, TX at the UTMB. I was flown into Houston and transported to Galveston. I stayed at the Harbor Hotel until I developed symptoms of an attack, which occurred two days after I arrived, as my attacks are very frequent. For the research, I was blindfolded, the drapes were drawn and foil wrap was put on the cords, so that I wouldn't know if I were getting a placebo or Panhematinâ?¢, but my body knows the difference. I was started on the research, but my headaches and abdominal pain was only getting worse. I was about to start an attack. So the rescue treatment, which is Panhematinâ?¢, was brought in and administered to me. I felt better the next day. I stand by Panhematinâ?¢ , and I truly believe that it is an effective treatment for Porphyria.
My whole reason for doing this research was to help others and to show that Panhematin does work. When I first got to the UTMB for the research, I found out that I was the first research patient on this particular study. That is a wonderful privilege. I feel a great sense of accomplishment by participating in the Panhematin research study. I feel that I really accomplished my goal, because I was given the opportunity to help others. I thank the APF for helping me to make my goal a reality. Dr. Anderson is the one who developed and oversaw the research. He is an amazing Doctor and Porphyria expert. He knew exactly what I needed from the moment I walked into the research clinic. I've never met a Doctor that was so educated on Porphyria and so devoted to the research and helping ones suffering from Porphyria. Also, he is the nicest person you will ever meet. If anyone with Porphyria has the chance and is thinking about being on a research study, I would suggest that you take that opportunity. It is the greatest privilege you will ever have.
Amanda Boston All of our thoughts and prayers go out to you and your family during your Loss Amanda
"Remember.Research is the key to your cure!"
EPP Kids' Program
Wednesday - May 28, 2014 @ 12:49:00
EPP Kids' Program
Camp Discovery Summer Time Parents and Kids!
Camp Discovery offers a wonderful summer camping experience for young people with skin disorders like porphyria.
Every year, the American Academy of Dermatology sponsors a week of fishing, boating, swimming, water skiing, arts and crafts, and just plain fun.
Under the expert care of dermatologists and nurses, Camp Discovery offers the opportunity of spending a week among other young people who have similar skin conditions. Many of the counselors have serious skin conditions as well, and can provide support and advice to campers.
Fun, friendship, and independence are on the top of everyone's agenda. And, everyone shares in the discovery of what it's like to be included.
There is no fee for camp. Full scholarships, including transportation, are provided by the American Academy of Dermatology through generous donations of their Sponsors and other organizations. Sponsors of the Academy are asked to recommend candidates for Camp Discovery.
You might want to ask your dermatologist about the camp and suggest that he/she recommend your child.
Disneyland and Disney World for EPP Kids Disneyland and Disney World are responsive to people with sun sensitivity. They will provide a pass to enable you to enter attractions without waiting in line in the sun.
Disneyland Go to "City Hall" and explain your problem of photosensitivity. You should bring a physician's letter with you as well as an APF brochure explaining the cutaneous disorder.
Disney World Proceed to the "Guest Relations" office at any of their parks (Magic Kingdom, EPCOT, etc.) and request the Special Assistance Pass.
remember to bring the aforementioned documentation because your disability is not necessarily visible. People on duty may not be familiar with light sensitivity and its consequences.
"Remember.Research is the key to your cure!"
Join APF In Touch
Tuesday - May 27, 2014 @ 12:45:00
Join APF In Touch
Because porphyria is a rare disease (defined as affecting fewer than 200,000 sufferers in the U.S.), many newly diagnosed patients have never even heard of the condition before, let alone met someone else who suffers from it. We created the APF In Touch network to meet this need.
APF membership includes access to the In Touch network, through which members can contact others around the country who are dealing with porphyria. Some members form lasting friendships via email, telephone or old-fashioned letters. Others prefer to reach out to members in their region and organize face-to-face get-togethers.
If you are seeking support and fellowship, or are willing to be there for others who are dealing with porphyria, please fill out and send in the In Touch consent form to our address below. For more information on the APF In Touch network, contact the APF office: 866-APF-3635 or 713-266-9617.
American Porphyria Foundation 4900 Woodway, Suite 780 Houston, TX 77056
What the In Touch network has done for me:
I want to share my experience with the In Touch network provided to us by the Foundation. I was diagnosed with AIP after 18 months of symptoms. You know the severe abdominal and back pains with fatigue and nausea. You all know the drill. The scariest part was the rarity of this disease. Every doctor tells you they're not that familiar with it, and very little was actually known about it. People look blankly at you when you try to explain how you feel. I don't have to elaborate to you all that also have it. So I decided to communicate with someone else that had this illness.
This was back in 2001, the time before the wonderful website that we are so blessed with now. So I opened the newsletter and looked at the names before me. I knew that I wanted someone that also had AIP. So I closed my eyes and asked God to help me chose the right one. I opened my eyes and there she was. Lori Brown from Madison, Alabama. I am from Arkansas so she was geographically close to me. I emailed her and introduced myself to her, telling her all of my experiences so far and asked if she would like to share "war stories." She emailed back and was more than happy to do just that. So over the next 7 years Lori and I battled porphyria together.
After a while Lori and I began calling each other on the telephone. Some of our conversations lasted for two hours! We discussed how the disease affected our marriages, children and our lives in general. I don't know if it was misery loves company but I can tell you she helped me so much. To have someone who understands what you are going through is great. I didn't feel alone.
On October 16, 2008 Lori Brown from Madison, Alabama passed away. The battle with porphyria is over. She is free. I never got the privilege of seeing her face or giving her a hug. But she was one of my best friends. So if you are thinking about getting in touch with someone and just haven't done it yet I encourage you to find yourself a Lori too. Find several. I have others as well: Rose, Mira, Judy, Jennifer and Troy. Or attend a meeting scheduled near you. Or reach out and host one yourself. I can assure you it will be a fulfilling experience.
Karen Eubanks Conway, AR
"Remember.Research is the key to your cure!"
Sakura Friends (Japan)
Saturday - May 24, 2014 @ 10:30:02
Sakura Friends (Japan)
Our friends from Japan would like to be part of our Global Partners Program. Like us, their group feels that international cooperation is extremely valuable. Their group is also very eager to learn through exchanging information and sharing communication.
Patients in Japan have difficulties finding a doctor who knows how to treat the porphyrias, just like we do here in the US. Together, we will be able to enhance awareness of the porphyrias all over the world.
Members of the Japanese Sakura Friends, would like to communicate with other people in the US. Please learn about their group below:
Welcome to "SAKURA Friends"
Japanese porphyria patients group, "SAKURA Friends" (SAKURA means cherry blossoms) was formed in 1997 by porphyria patients, families and support volunteers. Today the group has 66 members (as of July 2007).
The group's activities include issuing newsletters three times a year, organizing gatherings and study meetings, providing information and encouraging communication among members in the website, etc. The group makes efforts to:
Enhance knowledge about porphyria
Encourage communication among members
Support research for early diagnosis and improvement in treatment, which ultimately lead to cure
Contribute to improve social system and environments for patients and families
We welcome porphyria patients, families and anybody that supports the group's aim and efforts. Welcome!!!
We are also eager to make friends outside Japan so that we can exchange information and experiences and learn from each other.
Those who read Japanese can find more information about our group at www.sakuratomonokai.com
Over an extended period of time Clinuvel Pharmaceuticals Ltd (ASX: CUV; XETRA-DAX: UR9; ADR: CLVLY) has received a number of questions from patients, shareholders and the broader biotechnology community regarding the companys program and the progress being made towards regulatory approval by the EMA (European Medicines Agency) of the companys drug SCENESSE (afamelanotide 16mg).
In this release, Clinuvels Chairman Stan McLiesh and CEO Dr Philippe Wolgen address those questions most frequently asked of the company.
How long will it take to complete the EMA review of SCENESSE? The EMA review is estimated to be completed between July and October 2014, yet further reviews by the Agency are possible.
Why has the review process taken so long? The dossier we have filed is complex. Firstly, no other melanocortin has ever been submitted to European regulatory bodies.
Secondly, erythropoietic protoporphyria (EPP) is a complex disorder in that patients experience symptoms following light and sun exposure; their fear for the consequences of exposure causes patients to lead a withdrawn life and to deliberately avoid exposure. Patients aversion to light makes the interpretation of their clinical behaviour a challenge. In essence, this is the first time that evaluation of light exposure to skin is needed to be assessed in a pharmaceutical submission.
Third, the overwhelming demand for SCENESSE, from experts and patients, needs to be assessed by the EMA and weighed in their final outcome. The entire evaluation of SCENESSE requires careful evaluation of the drugs profile over the past 20 years in general, and the past nine years in EPP patients in particular. Safety is a key issue, with the expected adverse events (commonly known as side effects, which every drug has) reviewed and an evaluation made of the pharmacovigilance (safety measures in relation to drug and its distribution) once the drug has entered the market.
Do you expect a positive response to your submission? The decision is taken by the entire Committee for Human Medicinal Products (CHMP) which represents all members of the European Community. The Clinuvel team is optimistic that it will receive a positive response from the EMA which will enable us to provide access to the drug for European EPP patients.
What happens if there is a further delay in the approval of your application? Naturally, there is a plan B. On the basis of the safety data generated over the past 20 years, there should not be any safety concerns. This is the first part of EMAs equation of a risk-benefit analysis. The efficacy of SCENESSE is subject to patients and physicians experiences; in this case the statistics are of supporting evidence. Clinical relevance of treatment can only be expressed and confirmed by patient groups and all global experts knowledgeable in the disease.
Should the drug be approved, what will it cost? The drug is being priced in Italy and Switzerland and, depending on a number of parameters, the final price will be determined and revealed in due course. An important factor is the manufacturing and scalability of the product. However, in EPP Clinuvel will distribute to a relatively small number of patients.
When will you approach the FDA for approval in the USA? Clinuvels teams have been in regular contact with the FDA during the program, as should be expected from a pharmaceutical company. It is increasingly apparent that EMA and FDA exchange information and thoughts. In this light an EMA approval will trigger Clinuvels New Drug Application in the US.
How long will this process take? If a Fast Track Status is granted by the FDA for SCENESSE treatment in EPP, the review process can be relatively swift.
Is there any way to access the drug now? The drug has been available through special access schemes for EPP patients in Italy and Switzerland since 2010. Our clinical experiences are excellent, and the distribution of the drug is very much driven by the academic demand, which in turn is driven by patients choice to opt in for the treatment.
Youve spoken many times about a dose for children in EPP. Has any progress been made here? The ultimate objective of this management was to develop a treatment for children with EPP. The ordeal that parents and children go through in porphyria is unspeakable and really, at times, unimaginable. Clinuvels scientists and management had initially underestimated the burden of EPP on juvenile patients and their families, until we actually met with them and discussed their experiences.
The clinical tragedy lies in the fact that patients suffer in their normal development, since they do not understand why they feel out of place and in agony following light exposure. It is not sun that triggers the symptoms but any visible light. Since we live by light, plants and humans alike need it for a normal biological development. It usually takes 6-7 years before patients and parents link clinical symptoms to a light disorder, and even longer when physicians find a diagnostic pathway. In the meantime many of these children end up in the waiting room of clinical psychologists and psychiatrists to assess whether there is a somatic disorder at all.
Most of these adult patients have gone through a traumatic childhood and are still isolated while fearful of phototoxicity. Often burning pain is being described as the main symptom, however the traditional understanding of pain is most likely incorrect: these patients do not respond to any analgesic, peripheral, central, NSAID, cyclooxygenase inhibitor or opioid. In our current medical dictionary we have failed to come up with another description of phototoxicity other than pain, however the terminology probably doesnt do justice to these patients.
Clinuvel is working on a paediatric dose, but can really only accelerate this when EMA approval for adults is in sight.
When will the drug be available for vitiligo? Vitiligo is in Phase II trials in Asia. An EPP approval will have a spill-over effect on the ability to progress SCENESSE for vitiligo patients. A regulatory outcome will influence Clinuvels choices in vitiligo.
As stated, we are hopeful of a positive outcome, based on years of use of SCENESSE, the strong and genuine clinical feedback and safety. This last aspect has always dominated and will dictate Clinuvels choices.
About SCENESSE (afamelanotide 16mg) SCENESSE is a first-in-class therapeutic being developed by Clinuvel, with the generic name (or INN) afamelanotide. An analogue of α-MSH, afamelanotide is a linear peptide which activates eumelanin of the skin, the dark pigment which is known to provide photoprotective properties (offering skin protection against light and UV radiation). SCENESSE is administered underneath the skin as a dissolvable implant approximately the size of a grain of rice. For more information on SCENESSE go to http://www.clinuvel.com/scenesse.
SCENESSE is a registered trademark of Clinuvel Pharmaceuticals Ltd.
About Clinuvel Pharmaceuticals Limited Clinuvel Pharmaceuticals Ltd (ASX: CUV; XETRA-DAX: UR9; ADR: CLVLY) is a global biopharmaceutical company focused on developing drugs for the treatment of a range of severe skin disorders. With its unique expertise in understanding the interaction of light and human skin, the company has identified three groups of patients with a clinical need for photoprotection and another group with a need for repigmentation. These patient groups range in size from 10,000 to 45 million. Clinuvels lead compound, SCENESSE (afamelanotide), a first-in-class drug targeting erythropoietic protoporphyria (EPP), has completed Phase II and III trials in the US and Europe, and has been filed for review by the European Medicines Agency. Based in Melbourne, Australia, Clinuvel has operations in Europe, the US and Singapore.
Clinuvel is an Australian biopharmaceutical company focussed on developing its photoprotective drug, SCENESSE (afamelanotide) for a range of UV-related skin disorders resulting from exposure of the skin to harmful UV radiation. Pharmaceutical research and development involves long lead times and significant risks. Therefore, while all reasonable efforts have been made by Clinuvel to ensure that there is a reasonable basis for all statements made in this document that relate to prospective events or developments (forward-looking statements), investors should note the following:
actual results may and often will differ materially from these forward-looking statements;
no assurances can be given by Clinuvel that any stated objectives, outcomes or timeframes in respect of its development programme for SCENESSE can or will be achieved;
no assurances can be given by Clinuvel that, even if its development programme for SCENESSE is successful, it will obtain regulatory approval for its pharmaceutical products or that such products, if approved for use, will be successful in the market place
"Remember.Research is the key to your cure!"
Cover up this summer!
Wednesday - May 21, 2014 @ 19:37:29
Happy Summer to ALL those With Porphyria !
Don't forget to cover up!
"Remember.Research is the key to your cure!"
Study Available! Research # 7204 Be apart of research
The porphyrias are a group of genetic diseases caused by disturbances in the formation of heme, an essential component of hemoglobin and other proteins, leading to either acute (neurologic) and/or chronic (cutaneous) symptoms.
Acute porphyria is often difficult to diagnose because symptoms may not be specific. Unless the patient is in an active attack, laboratory values typically may not be useful for diagnosing porphyria.
The purpose of this study is to test whether a focused questionnaire and laboratory evaluation tool can better define risk factors associated with possible genetic porphyria.
Can I Join this Study?
To read more about this study, see if you are eligible or find a clinical center near you, please visit our web site:
If you are already participating in this study, please disregard this email.
Do We Have Your Correct Information?
Stay Informed!
We want to keep you informed with the latest news and information. Keeping your contact information up to date can be done quickly and easily on the Web:
The Porphyrias Consortium is a network of physician scientists, and clinical research resources dedicated to conducting clinical research in the Porphyrias. We Can Help You: Become aware of clinical research and clinical trial opportunities; Connect with expert doctors; Get help in managing your disease. Learn More >
The Porphyrias Consortium is a part of the National Institutes of Health's Rare Diseases Clinical Research Network. For more information, visit:www.RareDiseasesNetwork.org
The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate. Participation in research studies is voluntary. Deciding not to participate in a research study does not affect your ability to receive care at any of our Clinical Centers or from other physicians.
The Rare Diseases Clinical Research Network (RDCRN) was established by the National Institutes of Health (NIH) to develop research studies for rare diseases, and to encourage cooperative partnerships among researchers at over 150 clinical centers around the world. This increased cooperation may lead to discoveries that will help treat and perhaps prevent these rare diseases, as well as produce medical advances that will benefit the population in general. The Rare Diseases Clinical Research Network is comprised of a Data Management and Coordinating Center and 17 consortia studying over 100 rare diseases.
The Porphyrias Consortium is a part of NIH Rare Diseases Clinical Research Network (RDCRN). Funding and/or programmatic support for this project has been provided by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the NIH Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS).
The National Institutes of Health does not endorse or recommend any commercial products, processes, or services. The views expressed in written materials or publications do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government. For more information please email me your name and phone to see if you qualify for this study Amy.APF@gmail.com
I push myself to go to work all week. I push myself to do work around the house. I push myself to be with family and friends. I push myself to do the things I love to do.
What you guys go through stay cool and stay strong EPPers. "Remember.Research is the key to your cure!"
Have you Joined the Registry yet?
Wednesday - May 14, 2014 @ 12:29:00
Have you Joined the Registry yet?
Join the Porphyria Registry and LET THE GOVERNMENT KNOW THEY MUST PROVIDE FUNDING FOR PORPHYRIA RESEARCH!!!!!
To join the Contact Registry, click here to open a page that lists all of the rare disease consortia. Scroll down the page until you come to the Porphyria Consortium and click on your type of porphyria. You will then be asked to complete a simple form including information about the date of your diagnosis, if you know it. If you have copies of your initial diagnostic lab results, you may want to have them handy when you go to the registry website.
Porphyria experts have created this National Porphyria Registrya type of partnership between doctors and patients as a way for those with porphyria to share information about their health and treatment so physicians can learn from their experience and use that knowledge to enhance diagnosis, treatment and eventually find a cure for porphyria.
It is the best means to prove that there are enough porphyria patients who want improved health care. If we don't speak up, we will be left behind when research funding is given. We DO NOT HAVE ENOUGH PEOPLE ON THE REGISTRY. Please join the registry.
Joining the Porphyria Registry is anonymous and free of charge. All data will be stored in a secure, computerized database. No personal identifying information (such as your name, address, telephone number) will be given to anyone without your expressed approval.
Doctors who study rare diseases see a relatively small number of sufferers over many years of practice. This Registry will give a big boost to medical and scientific understanding of porphyria by bringing together information from patients all over the country.
If you need help enrolling in the registry contact our office toll free at 1-866-APF-3635.
Phones calls will be going on this week 5/20/2014 from 11-7pm Eastern time zone if you need additional help please email me AMY.APF@gmail.com
"Remember.Research is the key to your cure!"
APF and YOU! Please help!
Tuesday - May 13, 2014 @ 12:25:59
For 30 years, the APF has been the only US foundation with a board of experts who assist porphyria patients. YOUR support has made possible great advances in research, physician and patient education and patient support. The APF is YOUR foundation and exists to serve YOU and YOUR families. Now the APF needs your help to continue all these valuable programs and services. We need YOUR donations to help us continue the PTF program and expand our physician and patient education programs, as well as our research efforts. Every one of YOUR donations are tax deductible. The APF is non-profit. One dollar is as important as one thousand, because it comes from YOU! Thank You.http://www.porphyriafoundation.com/content/support-american-porphyria-foundation
"Remember.Research is the key to your cure!"
Read about Carol Coons and PCT
Thursday - May 8, 2014 @ 12:32:00
Read about:
Carol Coons
Type of Porphyria:
Porphyria Cutanea Tarda (PCT)
I have PCT but was misdiagnosed many times since I first noted that I was blistering in 2004. Three dermatologists in a row were unable to find out what was wrong with me even after I had a biopsy. My ferritin level was accidentally discovered at an unrelated clinic visit, and it was over 900. At that time, I was told to go to a hematologist, who said that that my only problem was hemochromatosis, even after I showed him my blisters and sores. I did have a genetic H63D heterozygous defect. I had a port put in place and to date, I have had over 45 phlebotomies. My internist sent me to get a second opinion, where I was told that I had PCT. As the treatment was the same, I had not gotten a port or had the other phlebotomies in vain. I have no idea how I developed PCT, but now I try to stay out of the sun, but it did show up while I was taking Paxil for my fibromyalgia pain and spending a week at the beach. Now I try to stay out of the sun and am careful not to eat too much iron. My liver is fine now, and fortunately I did not need a liver biopsy.
Thank you Carol for sharing your story with us!
"Remember.Research is the key to your cure!"
Healthwell Foundation
Wednesday - May 7, 2014 @ 12:59:08
Dear members, the HealthWell Foundation provides financial assistance to eligible individuals to cover coinsurance, copayments, health care premiums and deductibles for certain medications and therapies for acute porphyria treatment (like Panhematin). To determine eligibility and apply online, visit: http://www.healthwellfoundation.org/eligibility
The HealthWell Foundation stands ready to serve you! If you are a person with a diagnosis and are seeking assistance, please continue on this page. If you are applying on another person's behalf, please see Apply for Patient.
"Remember.Research is the key to your cure!"
HEALTHWELLFOUNDATION.ORG
A wonderful overall text book medical journal READ SAVE AND PRINT!
Sunday - May 4, 2014 @ 14:40:39
I would like to say that this article is a really nice overall document to print save, and share with your Doctors. Its reliable and it is a medical journal you will see below many familiar names of Experts Doctors and/or Protect the Future Doctors. That is why it is critical to be informed for your health. Enjoy!
Heme constitutes 95% of functional iron in the human body, as well as two-thirds of the average persons iron intake in developed countries. Hence, a wide range of epidemiological studies have focused on examining the association of dietary heme intake, mainly from red meat, with the risks of common diseases. High heme intake is associated with increased risk of several cancers, including colorectal cancer, pancreatic cancer and lung cancer. Likewise, the evidence for increased risks of type-2 diabetes and coronary heart disease associated with high heme intake is compelling. Furthermore, recent comparative metabolic and molecular studies of lung cancer cells showed that cancer cells require increased intracellular heme biosynthesis and uptake to meet the increased demand for oxygen-utilizing hemoproteins. Increased levels of hemoproteins in turn lead to intensified oxygen consumption and cellular energy generation, thereby fueling cancer cell progression. Together, both epidemiological and molecular studies support the idea that heme positively impacts cancer progression. However, it is also worth noting that heme deficiency can cause serious diseases in humans, such as anemia, porphyrias, and Alzheimers disease. This review attempts to summarize the latest literature in understanding the role of dietary heme intake and heme function in diverse diseases.
Keywords: heme intake, iron, red meat, cancer, diabetes, coronary heart disease, hemoproteins, cancer progression
Proteins are the building blocks of life. They are also the major source of dietary nutrients. When proteins are digested, amino acids are released to the body for biosynthetic purposes or for generating cellular energy. Besides amino acids, proteins also provide other nutrients, particularly metals. Iron is the most abundant metal in the human body; one adult human body needs 34 g of iron. Dietary iron is found in two forms, heme and non-heme iron. Heme iron, which is present mainly in meat, poultry and fish, is well absorbed. Non-heme iron, which accounts for the majority of the iron in plants [1], is less well absorbed. More than 95% of functional iron in the human body is in the form of heme [2]. Hence, heme should be considered an essential nutrient for humans, although historically iron is the primary concern in nutrition studies. Particularly, recent studies have shown that heme is efficiently absorbed by the small intestinal enterocytes [3,4]. In Western countries, heme iron derived from myoglobin and hemoglobin makes up two-thirds of the average persons total iron stores, although it constitutes only one-third of the ingested iron [5]. Evidently, heme is a bona fide essential dietary nutrient. Further, heme directly impacts many physiological and disease processes in humans. In this review, we present the current knowledge of how heme is absorbed in humans and the diseases associated with disturbed heme homeostasis.
2. Dietary Heme Is Efficiently Absorbed in the Small Intestine
Heme is found in highest abundance in meat in the form of hemoglobin and myoglobin. Heme is released from these proteins because of the low pH in the stomach and the action of proteolytic enzymes in the stomach and small intestine [5,6] (Figure 1). Concentrated heme produced from hemoglobin hydrolysis in the stomach is poorly absorbed, because pure heme is poorly soluble at the low gastric pH, but the availability of heme is unaffected by gastric secretion [5,6]. There is some evidence that neutralization of gastric contents by pancreatic juice also leads to polymerization of heme, which reduces its availability unless other protein degradation products are present to inhibit polymer formation. The interaction of heme with peptides produced from proteolytic digestion of globin prevents the formation of insoluble heme polymers. Heme solubility is increased significantly by the presence of protein, which is important, given the fact that heme-rich diet have high protein content [4,5,6,7,8,9]. Hence, the peptides and amino acids produced from meat hydrolysis can enhance the absorption of heme and non-heme iron [3,10].
Heme absorption in gut from dietary proteins. Low pH of stomach releases heme-containing proteins hemoglobin and myoglobin from dietary meat. Heme is released by the action of proteases in stomach and intestine. Intake of heme into enterocytes can be
Heme is absorbed by the mucosa as an intact metalloporphyrin [Fe(II)-protoporphyrin-IX] in the lumen by the enterocytes [4,5,11,12] (Figure 1). This may be facilitated by a vesicular transport system, presumably binding first to the brush-border membrane of enterocytes, and then undergoing internalization into the cytoplasm, finally appearing within enclosed vesicles [6]. Internalized heme may be released to the blood via the action of the heme exporter FLVCR1 (Figure 1). FLVCR2 is another putative heme transporter, which might be involved in intracellular heme import [13]. Heme in the blood might be taken up directly by various cells, including liver and erythroid cells, for making hemoproteins. Although heme from dietary hemoglobin has not been demonstrated to be reused directly in animals or humans, heme has been shown to be taken up directly by both intestinal and non-intestinal cells and promote direct cellular responses [14,15,16,17]. Alternatively, heme can be degraded, releasing the iron via the action of heme oxygenase (HO) (Figure 1). Iron then enters the low molecular weight pool of iron in the enterocyte, along with iron absorbed as inorganic non heme-iron (inorganic) iron [4,6,11,18]. In a study tracking the absorption of 59Fe-hemoglobin in closed duodenal loops, it is reported that heme degradation is the rate limiting step in heme absorption, as opposed to hemoglobin degradation, heme uptake, or iron transfer to the circulation [5,19]. Subsequently, the elemental iron is released to the bloodstream by the enterocytes via the basolateral transporter ferroportin [4,6,10,11,18]. Absorbed iron in the blood is delivered to the marrow for hemoglobin synthesis, and a small amount is stored mainly in the liver. All of this iron is carried by a single plasma protein known as transferrin. Transferrin, also known as siderophilin, has a molecular weight of about 80 kDa, with two ferric iron binding sites [8].
3. The Heme Transporters HCP1, HRG-1 and FLVCR1 Are Important for Maintaining Heme Homeostasis
Research in the past decade has identified several transporters involved in maintaining heme homeostasis [10]. Particularly, the function of three heme transporters have been characterized: proton-coupled folate transporter/heme carrier protein 1 (PCFT/HCP1), heme responsive gene 1 (HRG-1), and cell surface receptor for feline leukemia virus, subgroup C, cellular receptor 1 (FLVCR1) [18,20] (Figure 1). HCP1 has been characterized as a folate/proton symporter and appears to play a key role in intestinal heme and folate absorption. HCP1 is a low affinity heme transporter [5,18,21,22]. It has a higher affinity for folate (Km = 1.67 μM) as compared to heme (Km = 125 μM) [22]. HCP1 mRNA was found to be highly expressed in the duodenal mucosa, which is the main site of intestinal heme absorption. However, virtually no expression is found in the ileum [18]. The highly conserved murine HCP1 is a 50 kDa protein, with 9 predicted transmembrane domains (TM). Xenopus oocytes and HeLa cells expressing HCP1 exhibit 2- to 3-fold increase in heme uptake that is both saturable and temperature dependent [18]. HCP1 is post-translationally regulated in iron deficient mice and transcriptionally under hypoxia. In normal mice, HCP1 resides in the cytoplasm; however, in iron-deficient mice, HCP1 relocalizes from cytoplasm to plasma membrane. Conversely, feeding a high dose of iron to iron-deficient mice redistributed HCP1 from the brush border membrane of the duodenum to the cytoplasm. Levels of HCP1 mRNA are less responsive to iron deficiency but are induced under hypoxia [18,21,22,23]. HCP1 is localized in plasma membrane in non-polarized cells for heme uptake from body fluids, whereas in polarized cells, it is localized in the apical membrane for heme uptake from diet [22]. The post-translational regulation of HCP1 is interesting, because it provides an efficient and fast way to uptake dietary heme before it is lost to gut peristalsis. It also prevents the unnecessary uptake of heme intracellularly when cellular iron content is normal. This mechanism might prevent the accumulation of excess heme and iron, both of which are toxic to cells in excess [10]. It is observed that mRNA expression of HCP1, and by reasoning heme uptake, is regulated by heme [24]. Further investigation is needed to understand the precise mechanism of heme transport via HCP1 [3,5]. Nonetheless, existing studies strongly suggest that HCP1 plays a crucial role in the uptake of heme iron in the intestine, with its expression controlled by the levels of iron and heme in the organism. Recent evidence suggests that HRG-1 is responsible for transporting heme from the endosome to the cytosol [13]. HRG-1 has been reported to be primarily localized on endosome and lysosome related organelles and partially (~10%) on the plasma membrane [13,22,25,26]. It is reported to be expressed on the basolateral, and not apical surface, of polarized Madin-Darby canine kidney cells [22]. HRG-1 is found to be highly expressed in kidney, brain, heart and small intestine [22,26]. The expression of HRG-1 mRNA is tissue dependent, with some studies reporting direct relation between HRG-1 expression and heme concentrations. Transcription factor Bach1 represses anti-oxidant response genes, including HRG-1 and heme oxygenase genes. When intracellular heme concentrations increase, heme binds to Bach1 via HRMs (heme regulatory or responsive motifs) and Bach1 mediated repression is released, Bach1 then dimerizes with the activator protein Maf to stimulate the expression of HRG-1, heme oxygenase and other Bach1 repressed genes [13,27,28,29]. A recent study showed that HRG-1 is the phagolysosomal heme transporter for microphage heme-iron recycling [30]. It mediates heme transport from the phagolysosome during erythrophagocytosis and may play a similar role in the intestine.
FLVCR1, a member of the major facilitator superfamily of transporter proteins, was identified as the cell surface receptor for feline leukemia virus, subgroup C. FLVCR1 is highly expressed in tissues that either transport heme (i.e., intestinal or hepatic cells) or synthesize high levels of heme (erythroid cells). FLVCR1 exports cytoplasmic heme. Heme export by FLVCR1 is time and temperature-dependent; interference with FLVCR1 function blocks heme export and increases cellular heme content [10,20]. FLVCR1 expression is induced during early erythroid differentiation. It functions as a heme exporter to protect the cells from excess heme build up during the CFU-E stage of erythropoiesis. Even under heme deficient conditions, FLVCR1 does not reverse function to increase heme uptake.
4. Heme Is Degraded, and Iron Is Recycled by the Action of Heme Oxygenase (HO) in Mammals
HO is localized to the endoplasmic reticulum (ER) and requires NADPH-cytochrome P-450 reductase for its catalytic turnover [22,31,32,33]. It is a rate-limiting enzyme in the catabolism of heme and plays a key role in regulating the intracellular heme levels [34,35]. Three isoforms of HO have been identified so far: HO-1, HO-2 and HO-3. HO-1 is a 32 kDa protein, which can be induced by heme and heavy metals, hyperoxia, hypoxia, UV light, hydrogen peroxide, lipopolysaccharide, hyperthermia or endotoxin [34,35]. HO-1 is transcriptionally regulated, while the 36 kDa protein HO-2 is constitutively synthesized [36]. HO-3 is reported to be derived from a processed pseudogene [22,34,36,37]. HO-1 is expressed in relatively low amounts in all tissues, while HO-2 is constitutive and mainly expressed in brain and testis. HO-1 is constitutively expressed in colonic, gastric and intestinal mucosa [34]. Yanatori et al. reported that changes in heme concentrations do not affect the localization of HO-1 in HEp-2 cells [22]. HO expression is highest in duodenum, in which heme absorption is highest, as well as the site for highest expression of HCP1. HO activity increases during iron deficiency [5]. Thus, HO plays important roles in maintaining heme and iron homeostasis.
Besides iron, degradation of heme by HO results in the production of carbon monoxide (CO) and biliverdin IX-α (BV) [34,38]. CO acts as a physiological regulator of cGMP and may function as a neuromodulator [39]. Water soluble biliverdin is released as a result of heme degradation and is further reduced to the orange bile pigment, bilirubin IX-α (BR), by biliverdin reductase (BVR). Bilirubin is then released into the gastrointestinal tract (GI) [10,38,40]. Bilirubin is a lipophilic and water insoluble compound, which is responsible for the yellow color associated with bruises, urine, brown color of feces and yellow discoloration in jaundiced patients [39]. Bilirubin scavenges ROS and is considered to be a potent antioxidant and antinitrosative [34,41]. High baseline serum levels of bilirubin are found to be associated with lower incidences of retinal damage in newborns, reduced risk of ischemia heart disease and reduced rates of cancer-related mortality [40,41]. Bilirubin has antioxidant properties, but unconjugated bilirubin becomes neurotoxic if produced in excess, such as in hemolytic anemia or sepsis. Unconjugated billirubin can result in disruption of cell membrane, a reduction of mitochondrial potential and activation of the apoptotic cascade [42]. Thus, HO activity is responsive to many stimuli, in addition to those related to iron and heme.
5. High Heme Intake Is Associated with Increased Risk of Cancer
Dietary differences in the world likely contribute to global variations in cancer cases [43]. Meat is an important source of proteins and provides essential amino acids. It is one of the largest dietary sources of heme [44,45]. Epidemiological and experimental studies have suggested that the high heme content in red meat is associated with several diseases, including heart diseases, diabetes and cancer [45]. Red meat (beef, lamb and pork) has 10-fold high heme content as compared to white meat (chicken) [46]. Studies have shown that an increased risk of several types of cancer is associated with diets high in red meat. On the contrary, consumption of substantial amounts of green vegetables is associated with decreased risk of colon cancer, likely because vegetables contain low levels of heme iron [44,47,48]. Below we provide an overview of recent epidemiological data showing the association of increased risk of cancer with high heme iron intake.
5.1. High Heme Intake in Diet Increases the Risk of Colon Cancer
A number of studies have demonstrated a positive association between high intake of red meat and colorectal cancer (CRC). However, the association between red meat intake and other cancer types such as gastrointestinal, lung cancer, pancreatic, breast and esophageal are understudied and less consistent [43,45,49]. Table 1 provides a summary of recent epidemiological studies investigating the association of heme iron intake with an array of diseases, including cancer. Colorectal cancer is the third leading cause of death around the world and accounts for more than 1 million cases and 600,000 deaths each year [44,50]. CRC is most commonly associated with dietary preferences high in red meat, suggesting that the risk of CRC can be reduced by controlling dietary intake [43,51].
Summary of epidemiological studies investigating the association between dietary intake of heme iron and/or red meat with various diseases.
A meta-analysis performed in 2006 by Larsson and coworkers showed an elevated overall relative risk (RR) of 1.28 of colorectal cancer (95% confidence interval (CI) = 1.151.42) for red meat in the highest versus lowest category of intake. They estimated the RR of 1.28 (95% CI = 1.181.39) for an increase of 120 g/day of red meat [52]. Another study suggested an increased risk of colon cancer in men with a diet high in heme and decreased intake of chlorophyll [53]. In 2011 a meta-analysis of prospective cohort studies of colon cancer reported heme intake of 566,607 individuals and 4734 cases of colon cancer [44]. The study compared the RR of subjects with highest category of heme intake with those in lowest category and determined an RR of colon cancer to be 1.18 (95% CI = 1.061.32). In their analysis of experimental studies in rats with chemically induced colon cancer, they showed that dietary hemoglobin and red meat promote a putative cancer lesion, an aberrant cryptic foci [44]. Another meta-analysis study showed a significant association between high intake of red and processed meat with increased risk of colorectal, colon and rectal cancers [54]. In this study, the overall RR for colorectal cancer for highest versus lowest intake of fresh red meat for every 100 g/day increase is 1.17 (95% CI = 1.051.31). The study showed similar results for colon cancer, but no significant association is found for rectal cancer [54].
In 2013, a meta-analysis further suggested a positive-dose response association of heme intake and the risk for colorectal cancer [50]. In the analysis of eight studies, the authors found a 14% higher risk for CRC in subjects with high intake of heme, compared to the subjects with lowest intake of heme [50]. The observed overall RR for CRC in their study was 1.14 (95% CI = 1.041.24) for heme intake [50]. Gene expression profiling of the colon mucosa in mice showed that heme is involved in the downregulation of the inhibitors of proliferation, Wnt inhibitory factor 1, Indian Hedgehog, bone morphogenetic protein 2 and Interleukin-15. The expression of amphiregulin, epiregulin and cyclo-oxygenase-2 mRNA is upregulated by heme in surface cells vs. crypt cells. These results suggest that heme inhibits the surface to crypt signaling of feedback inhibitors of proliferation and induces colonic hyperproliferation and hyperplasia, which increases the risk of colon cancer [48].
Several potential mechanisms have been suggested to explain the association between high intake of red meat and the risk of colorectal cancer. Heme is more bioavailable and readily absorbed as compared to non-heme. However, detrimental effects are associated with heme specifically, which includes cytotoxicity and the increased formation of endogenous N-nitroso compounds (NOCs), which may increase the overall mutation rate in the DNA of colonic tissue [55,56,57]. Heme in red meat may catalyze the production of endogenous NOCs within the colon and thereby catalyze the formation of cytotoxic and genotoxic aldehydes by lipoperoxidation [43,44,51,56]. It has been shown that under anaerobic conditions, hemoproteins, hemoglobin and myoglobin in meat can react with nitric oxide to form nitrosating agents. In addition, hemes are known to be nitrosating agents and can be easily nitrosated under certain conditions, which is facilitated by the anaerobic and reductive environment of the small intestine by maintaining heme in its ferrous state [56]. Nitrosyl heme and nitroso thiols contribute significantly in the endogenous production of NOCs. Amines and amides produced by bacterial decarboxylation can be N-nitrosated in the presence of these nitrosating agents to produce NOCs. A majority of the NOCs investigated are shown to be carcinogens [51,56,58].
5.2. Risk of Gastrointestinal and Pancreatic Cancer Is Associated with High Heme Intake
With the availability of large amounts of epidemiological data for colorectal cancer, the positive relation between colorectal cancer and high intake of red meat (high heme content) is convincing; however, limited data is available for other gastrointestinal malignancies. A 2011 study showed a positive association between red meat intake and squamous cell carcinoma of the esophagus [45]. They observed a hazard ratios (HR) of 1.47 (95% CI = 0.992.20, P for trend = 0.063) for highest versus lowest quintile of heme intake, suggesting a positive association between esophagus adenocarcinoma and heme intake [45]. Jakszyn and coworkers observed a statistical significant association between heme intake and gastric cancer (GC) with HR of 1.13 (95% CI = 1.011.26 for a doubling of intake), which was adjusted by age, BMI, sex, tobacco smoking, education level, and energy intake [59]. Their study included 481,419 individuals and 444 cases of GC [59]. Ward and coworkers has also suggested a positive association between the consumption of heme from red meat and increased risk for esophageal and stomach cancer [60].
Pancreatic cancer is one of the most deadly cancers. Hence, previous studies have focused on the association between risk of pancreatic cancer and diet. A meta-analysis performed in 2012 found that there is an increased risk of pancreatic cancer in men, positively associated with consumption of red meat [61]. In that study, RR for risk of pancreatic cancer in men is 1.29 (95% CI = 1.081.53), suggesting a significant association of red meat intake and risk of pancreatic cancer. However, the authors did not observe a significant association in women (RR = 0.93, 95% CI = 0.741.16) [61].
5.3. High Heme Intake Increases the Risk of Endometrial Cancer in Women
Endometrial cancer accounts for 1020 per 105 people a year in western countries [62]. An association between heme intake from red meat and the risk of endometrial cancer in women was suggested, but the studies were very limited. Kabat and coworkers [70] (2008) used data from a large cohort study of Canadian women and assessed the risk of endometrial cancer associated with dietary intake of heme. The authors found no association between heme intake and the risk of endometrial cancer [70]. However, a case control study by Kallianpur and coworkers (2010) observed an increased risk of endometrial cancer of ~2-fold with higher heme intake, predominantly after menopause and in women with BMI â?¥ 25 kg/m2 [71]. Another recent study by Genkinger and coworkers [72] (2012) also suggested a moderately positive association between risk of endometrial cancer and heme intake. The comparison between highest vs. lowest quartile in their study showed a 20%30% of higher risk associated with higher intakes of heme, with a RR of 1.24 (95% CI = 1.01, 1.53 for â?¥1.63 compared with <0.69 mg/day) [72]. A few mechanisms have been proposed to explain how heme intake may lead to onset of endometrial cancer: (1) Heme can lead to a higher per-oxidant load and lead to higher oxidative stress and DNA damage; (2) Heme intake is also reported to be associated with increased risk of obesity, diabetes and the markers of obesity and diabetes, which are suspected associated factors for the risk of endometrial cancer [63,72,73,74].
5.4. Epidemiological and Molecular Studies Reveal the Link between High Heme Intake and Lung Cancer
Several case control and cohort studies have been reported for an association between high meat (or heme intake) and risk for lung cancer, but these limited studies show inconsistent findings [49]. A study in 2009 reported a strong positive association between intake of heme from meat and lung cancer in men as compared to women [75]. It was found that for association between heme intake and risk for lung carcinoma, hazard ratios (HRs) in comparison with quintiles 5 with 1 (Q5 vs Q1) is 1.25 (95% CI = 1.07, 1.45) in men and 1.18 (95% CI = 0.99, 1.42) in women. The study showed an even higher risk of lung cancer in men with high intake of bioavailable heme and lower intakes of antioxidants [75]. On the contrary, Tasevska and coworkers in 2011 reported no significant association between consumption of diet high in red meat and lung cancer [49]. In their study population, they did not observe any association between intake of heme and risk for lung cancer.
To associate a link between intake of fresh red meat and heme, Lam and coworkers performed a mechanistic study in meat-related lung carcinogenesis by using whole genome expression [65]. They measured the genome-wide expression in tumors and non-involved fresh frozen lung tissues of 64 adenocarcinoma patients. Out of 232 annotated genes in tumor tissue, they found that ~28% (63 genes) were involved in heme transport, absorption (e.g., HFE), binding (e.g., CYP4A11, HPX and NENF), biosynthesis (e.g., ALAS2) and heme/iron mediated wnt signaling pathway (e.g., WNTs, LEF1, PTPRT, TNF) [65]. These results are entirely consistent with recent data gained from molecular studies of lung cancer cells [73]. Notably, a recent molecular study comparing non-small cell lung cancer (NSCLC) cells with nontumorigenic lung epithelial cells suggested a novel, key mechanism underlying heme function in cancer progression [73]. This mechanism can explain the result from epidemiological studies indicating a positive role of heme in promoting cancer. In that study, using a matched pair of cell lines representing normal nonmalignant HBEC30KT and non-small-cell lung cancer (NSCLC) HCC4017 cells developed from the same patient, Hooda and colleagues identified metabolic changes linked with the transformation of normal to cancer cells [73]. They found that oxygen consumption and heme synthesis are intensified significantly in lung cancer cells, compared to the normal cells. Furthermore, the levels of heme uptake proteins and oxygen-utilizing hemoproteins are dramatically increased in cancer cells and xenograft tumors. Inhibition of heme synthesis or mitochondrial function preferentially suppresses cancer cell proliferation, colony formation and cell migration (Figure 2). These results demonstrated that heme availability is significantly increased in cancer cells and tumors, which leads to elevated production of hemoproteins, resulting in intensified oxygen consumption and cellular energy production for fueling cancer cell progression. This provides a unifying mechanism for heme function in promoting cancer progression [73].
A cartoon illustrating a putative mechanism by which heme fuels cancer cell progression. Heme from blood can be taken up by cells via heme transporters HCP1 and HRG-1. Cancer cells have intensified internal heme synthesis as well as increased heme uptake
In Figure 2, we suggest that dietary heme may be directly reused by cells. This deviates from the traditionally accepted view that dietary heme is degraded in the liver, and iron is released. However, existing data do not counter and are consistent with the idea that heme in the blood can be taken up directly and used by cells. For example, diverse cells, including K562, Caco-2, HepG2 and neuronal cells, are known to directly uptake heme [14,15,16,17]. Thus, under conditions under which heme is needed, as is the case when cancer cells try to proliferate and invade, dietary heme may be released into the blood and taken up by cancer cells to make hemoproteins directly. The highly elevated expression of heme transporters in the cancer cells would drive heme uptake by cancer cells.
6. High Heme Intake Is also Associated with an Increased Risk of Type-2 Diabetes and Coronary Heart Disease
6.1. High Heme Intake Correlates with Increased Risk of Type-2 Diabetes
Previous epidemiological studies have suggested an association between high heme iron intake and diabetes, as well as coronary heart disease. Diabetes mellitus, also referred to as diabetes, is a growing problem in the modern society characterized by impaired carbohydrate, protein and lipid metabolism caused by insulin resistance and an insufficient amount of insulin secreted. In 2000, the WHO reported that around 47 million people were suffering from diabetes. In 2004, an estimated 3.4 million people had died because of high blood sugar level, with a similar number of deaths reported in 2010. WHO projects that diabetes will be the 7th leading cause of death by 2030 with type-2 diabetes (T2D), accounting for almost 90% of the diagnosed cases [64].
Several cross-sectional and cohort studies have demonstrated positive association between heme intake and T2D [66,67,68,76] (see also Table 1). These studies have been performed in males and females of different ages, and pregnant women. In 1983, Loma Linda Universitys Adventist Health Study showed evidence of a positive association between heme from meat and T2D [71]. Since then, several studies have been carried out in different countries to establish this association with different subjects groups [66,67,68,76]. In a large cohort study conducted by Jiang et al., authors followed 422,846 persons/year for a period of 12 years from 1986 to 1998 with 1168 reported cases of T2D, to determine possible elevated risk of T2D in men consuming red meat as source of heme intake [66]. They found that men on red meat diet show an increased risk of T2D. However, when chicken, fish, or eggs are the primary source of heme, the association between heme and T2D disappears [66]. In 2004, Lee et al. examined the relationship between heme intake and T2D in women [77]. This study was carried out over an 11-year follow-up period [77]. The authors also reported a positive association between heme intake and T2D in women with RR 1.0, 1.07, 1.12, 1.14 and 1.28 across quintiles of heme intake. Interestingly, the association appeared to be stronger among women consuming alcohol, with the risk of T2D increasing with higher alcohol consumption. Particularly, subjects consuming 15 g/day of alcohol have RR across quintiles of heme ranging from 1.0, 2.26, 3.22, 1.92, to 4.42 [77], non-heme iron was inversely associated with incidence of T2D. In 2011, Qui et al. showed increased heme intake to be associated with gestational diabetes mellitus (GDM) in pregnant women [78]. Along with dietary heme intake, the association was confounded among women who smoked during pregnancy with a significant RR of 2.09 (95% CI 0.4210.41), while the corresponding RR for non-smokers is 1.48 (95% CI 0.892.46) [78].
The positive association found between heme and T2D is consistent with other studies evaluating the relationship between red meat (heme iron intake) and T2D. The positive association between processed red meat and T2D was confirmed by various studies, suggesting that the risk of T2D increases with higher consumption of processed red meat, regardless of gender, age, ethnicity and BMI [66,67,76,78,79]. Frank Hu and coworkers carried out three cohort studies to evaluate association between unprocessed red meat and T2D [68]. Their result for association of unprocessed red meat with T2D is consistent with that of processed meat. The meta-analyses of the data suggested that a 100 g/day increase in intake of unprocessed meat increases the risk of T2D by 19% (95% CI: 4%37%) [68] (Table 1).
6.2. High Dietary Heme Intake Can Increase the Risk of Coronary Heart Disease Significantly
It is worth noting that previous studies have also demonstrated a positive association between heme and CHD. Ascherio et al. reported the earliest evidence of this association in 1994 [80]. They found an increased risk of myocardial infarction among men consuming red meat as the main source of heme and iron [80]. A study of 329 Greek men and women also positively associated the increased risk of CHD among men and women, especially those older than 60 year with an increased dietary heme intake [69]. In another study Snowdon et al. used meat intake as a measure of dietary heme and found a 60% increased risk of CHD among men who consume meat six times a week compared with men who consume meat less than once a week [81]. Similar studies have been performed in Netherlands, Italy, USA and Japan [82,83,84,85]. These studies, except the one in Japan, show a statistical correlation between heme intake and increased risk of CHD. Higher heme intake significantly associated with elevated risk of developing CHD with an RR of 31% (95% CI 4%67%). Meta-analysis of these studies show an 27% increased risk of CHD with a 1 mg/day increase in heme intake. The study in Japan performed by Zhang et al. did not show the positive association between heme and CHD [85]. The source of heme in Japanese diet is mainly from fish. It is likely that levels of heme in fish are not high enough to cause CHD. Also, fish and shellfish are excellent source of vitamin D and n-3 fatty acids, which protect against CHD [86,87]. Therefore, the dietary profile may have obscured the association between heme and CHD in this study.
6.3. Multiple Mechanisms May Underlie the Association of Heme Intake with T2D and CHD
Although the exact mechanism for association of increased dietary heme with T2D and CHD is uncertain, several mechanisms have been proposed. In western countries, heme in the diet is mainly derived from red meat. The feedback mechanism for iron absorption functions better for non-heme iron as compared to that for heme. At any serum ferritin level, the percentage of heme absorbed is higher compared to non-heme iron. As a result, heme continues to be absorbed by the body even in events of excess serum ferritin [88]. Excess of heme intake also leads to iron overload in the body. Iron is a strong pro-oxidant and catalyzes production of reactive oxygen species in various cellular reactions [89]. Excess of iron causes damage to various tissues, especially pancreatic beta cells through increasing oxidative stress by the reactive oxygen species generated, resulting in the damage of insulin production and excretion [90].
Additionally, excessive heme intake leads to deposition of iron deposition in pancreatic beta cells and other tissues, which induces insulin resistance [91,92]. The highly active iron damages the DNA and cell integrity and interferes with glucose uptake by various tissues. An excess of iron was shown to diminish utilization of glucose by muscle tissues [92,93]. This results in shift from glucose utilization to fatty acid production [92,93]. The highly reactive hydroxyl free radicals generated by iron promote oxidation of low-density lipoprotein cholesterol [88,94]. Two studies have indicated that macronutrients like sodium and nitrites present in the meat along with heme increase the risk of type-2 diabetes [95,96]. A recent study in Finland suggested that sodium in the processed red meat contributes to T2D [96]. In addition, the nitrites used in the preservation of red meat enter the body as nitrosamines [95]. These nitrosamines have been shown to be toxic to pancreatic beta cells and increase the risk of type 2-diabetes. Therefore, from a health point of view, a decrease in the red meat consumption, particularly processed red meat, and substitute with other source of heme, such as chicken, eggs, fish, nuts, dairy products and whole grains, should be considered to decrease potential T2D and CHD risk.
7. Heme Deficiency Can Cause Serious Health Problems in Humans
While high dietary intake of heme may have adverse effects on health, heme deficiency can also cause serious health problems. In the human body, roughly 80% of heme is present in red blood cells, 15% is synthesized and present in liver, and the rest is distributed in other tissues [97,98,99]. Previously, Tatyana and coworkers have summarized the following newly identified roles of heme: (1) Role in gene expression regulation in yeast Hap1, mammalian Bach1 and bacterial Irr transcription factor proteins; (2) Role in controlling the ion channels (such as, high conductance voltage and Ca2+ activated potassium channels); (3) Role in binding to different nuclear receptor proteins; (4) Role in the regulation of circadian clock (day-night cycle); (5) Role in erythrocytes [98].
7.1. Defects in Heme Biosynthesis Can Cause Anemia and Porphyrias in Humans
Heme biosynthesis involves eight enzymes, and a defect in any one of them is associated with diseases. Such a defect can be caused by genetic mutations or environmental factors that suppress heme synthesis, such as the presence of lead or lack of iron. Defective heme synthesis can cause acute porphyrias, which are associated with neurological problems in peripheral nervous system (e.g., motor weakness and sensory changes, such as abdominal pain, paresthesia and loss of sensation) and CNS (e.g., insomnia, depression, anxiety, hallucination, seizures and paranoia) [100]. Sideroblastic anemia is a rare X-linked disease, which is caused by the defect in the erythroid-specific enzyme 5-aminolevulinic acid synthase-2 (ALAS2). Defects in any of the other seven enzymes are associated with porphyria [100]. Porphyrias are divided into erythropoietic porphyrias and acute hepatic porphyrias [100]. Neuronal problems are associated with the following four known types of hepatic porphyrias: 5-aminolevulinate dehydratase deficient porphyria (ADP), acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP) [100]. Three out of four hepatic porphyrias are dominantly inherited, except ADP, which is rare and a dominant recessive disease [101]. Overproduction and accumulation of porphyrins and porphyrin precursors, 5-aminolevulinic acid (ALA) and porphobilinogen (PBG) represents the clinical manifestations of the porphyrias. Besides genetic defects, lack of iron can also cause heme deficiency, as is the case in iron deficiency anemia. Lack of iron can be caused by low dietary iron intake, as in the case of vegetarians, or by blood loss, for example, heavy menstrual bleeding.
7.2. Heme Regulates Diverse Neuronal Genes
Heme is involved in the regulation of neuronal specific genes, particularly through the NGF signaling pathway [98,102]. It has been reported that heme deficiency induces apoptosis in NGF-induced neuronal cell lines. Heme deficiency induced pro-apoptotic JNK signaling pathway and inactivated the pro-survival Ras-ERK1/2 signaling pathway [103]. One possible mechanism of heme regulatory action may be through modulation of kinase activity. Work in the Zhang lab showed that heme actively interacts with Jak2 and Src and affects the phosphorylation of key tyrosine residues in Jak2 and Src [104]. In addition, our microarray data showed that heme deficiency in NGF-induced rat neuronal cells altered the activity of several important neuronal specific genes. They include the structural genes encoding neurofilament proteins and synaptic vesicle proteins, regulatory genes encoding signaling components β-arrestin and p38 MAPK, and stress-response genes encoding hsp70 [103].
7.3. Altered Heme Metabolism Is Associated with Alzheimers Disease
Alzheimers disease (AD) is an age-related neurodegenerative disorder, a common cause of age-related dementia. It is characterized by memory loss caused by a decline in synaptic function, the formation of neurofibrillary tangles, and neuronal cell death, which is followed by a further decline in cognitive and physical functions. Amyloid-β (Aβ) peptide aggregation is associated with the pathophysiology of AD and is associated with the loss of iron homeostasis and mitochondrial complex IV [98,105]. Altered heme metabolism is found in the brains of AD patients [98]. Defective heme metabolism is associated with aberrations in the electron transport chain (loss of complex IV), dimerization of APP, free-radical production, markers of oxidative damage and ultimately cell death, which represents key cytopathologies of AD [106]. The expression levels of heme synthetic enzymes ALAS1 and porphobilinogen deaminase are substantially decreased, which may be associated with the heme deficiency seen in AD, suggesting that the heme biosynthesis is altered in AD patients. The expression levels of heme oxygenase (HO) have been reported to be increased in the cerebral cortex and hippocampus in AD patients [35]. There are conflicting views about the effects of HO; it is not clear whether HO is associated with heme deficiency or an increased heme synthesis [98]. Due to increased heme degradation in AD patients, the levels of bilirubin, a product of heme degradation, are increased in the CSF of AD patients [107]. Aβ binds two molecules of heme with a binding constant of Ka1 = 7.27 � 106 M1 (n1 = 1.5) and Ka2 = 2.89 � 106 M1 (n2 = 1.8), forming Aβ-heme complex, which may lead to the functional heme-deficiency in the brains of AD patients [108]. Heme binding with Aβ prevents the formation of Aβ aggregates, although the Aβ-heme complex is a peroxidase and can oxidize several biomolecules. Sequestration of heme by Aβ creates a heme-deficient environment leading to dysfunctional mitochondria and altered metabolic activity in AD brain [106].
7.4. Heme Is Important in the Regulation of Circadian Rhythm in Humans
Circadian rhythm is the clock governing many important behaviors and physiological processes in humans, such as sleep/wake cycle, feeding, body temperature, hormone secretion, and metabolism [109]. Molecular and biochemical studies suggested an involvement of heme in the regulation of circadian rhythms. Neuronal PAS domain protein 2 (NPAS2) is a heme-binding protein and plays a role in the regulation of circadian rhythms [110,111]. DNA binding activity of heme-bound NPAS2 can be inhibited by low micromolar concentrations of carbon monoxide, suggesting that the expression of its target genes are regulated by the gas through a heme-based sensor [110,111]. Heme acts as a ligand for the nuclear hormone receptors REV-ERBα and REV-ERBβ. REV-ERBα regulates a number of physiological functions, including circadian rhythms and metabolic gene pathways. It acts as a heme sensor for the coordination of circadian and metabolic pathway [109,112,113]. A study in mice suggests that a defect in heme biosynthesis, especially heme deficiency, can affect the phase and period of circadian clock [114]. Thus, heme acts as a factor modulating the function of mammalian circadian clock genes [114].
This review offers a comprehensive analysis of the current literature on the health benefits and risks of heme as an essential nutrient. Heme constitutes 95% of the functional iron in the human body and accounts for two-thirds of iron intake for people in Western countries. Therefore, heme ought to be a crucial factor when considering human nutrition and health. This review summarizes both epidemiological and molecular studies regarding heme function in health and diseases. It can serve as a starting point for further discussion of heme function as an essential nutrient and investigation of heme function in the pathogenesis of diverse diseases.
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94. Tappel A. Heme of consumed red meat can act as a catalyst of oxidative damage and could initiate colon, breast and prostate cancers, heart disease and other diseases. Med. Hypotheses. 2007;68:562564. doi: 10.1016/j.mehy.2006.08.025. [PubMed][Cross Ref]
95. Kleinbongard P., Dejam A., Lauer T., Jax T., Kerber S., Gharini P., Balzer J., Zotz R.B., Scharf R.E., Willers R., et al. Plasma nitrite concentrations reflect the degree of endothelial dysfunction in humans.Free Radic. Biol. Med. 2006;40:295302. doi: 10.1016/j.freeradbiomed.2005.08.025. [PubMed][Cross Ref]
96. Mannisto S., Kontto J., Kataja-Tuomola M., Albanes D., Virtamo J. High processed meat consumption is a risk factor of type 2 diabetes in the α-tocopherol, β-carotene cancer prevention study.Br. J. Nutr. 2010;103:18171822. doi: 10.1017/S0007114510000073. [PMC free article][PubMed][Cross Ref]
98. Smith A.G., Raven E.L., Chernova T. The regulatory role of heme in neurons. Metallomics.2011;3:955962. doi: 10.1039/c1mt00085c. [PubMed][Cross Ref]
99. Zhang L. Heme Biology. World Scientific Publishing; Singapore: 2011. Introduction; pp. 16.
100. Anderson K.E., Sassa S., Bishop D.F., Desnick R.J. Disorders of Heme Biosynthesis: X-Linked Sideroblastic Anemia and the Porphyrias. The McGraw-Hill Companies; New York, NY, USA: 2009. pp. 153.
101. Badminton M.N., Elder G.H. Molecular mechanisms of dominant expression in porphyria. J. Inherit Metab. Dis. 2005;28:277286. doi: 10.1007/s10545-005-8050-3. [PubMed][Cross Ref]
102. Sengupta A., Hon T., Zhang L. Heme deficiency suppresses the expression of key neuronal genes and causes neuronal cell death. Brain Res. Mol. Brain Res. 2005;137:2330. doi: 10.1016/j.molbrainres.2005.02.007. [PubMed][Cross Ref]
103. Zhu Y., Lee H.C., Zhang L. An examination of heme action in gene expression: Heme and heme deficiency affect the expression of diverse genes in erythroid k562 and neuronal PC12 cells. DNA Cell Biol. 2002;21:333346. doi: 10.1089/104454902753759744. [PubMed][Cross Ref]
104. Yao X., Balamurugan P., Arvey A., Leslie C., Zhang L. Heme controls the regulation of protein tyrosine kinases Jak2 and Src. Biochem. Biophys Res. Commun. 2010;403:3035. doi: 10.1016/j.bbrc.2010.10.101. [PMC free article][PubMed][Cross Ref]
105. Atamna H. Heme binding to amyloid-β peptide: Mechanistic role in Alzheimers disease. J. Alzheimers Dis. 2006;10:255266. [PubMed]
106. Atamna H., Frey W.H., II Mechanisms of mitochondrial dysfunction and energy deficiency in Alzheimers disease. Mitochondrion. 2007;7:297310. doi: 10.1016/j.mito.2007.06.001. [PubMed][Cross Ref]
107. Atamna H. Heme, Iron, and the mitochondrial decay of ageing. Ageing Res. Rev. 2004;3:303318. doi: 10.1016/j.arr.2004.02.002. [PubMed][Cross Ref]
108. Zhou Y., Wang J., Liu L., Wang R., Lai X., Xu M. Interaction between amyloid-β peptide and heme probed by electrochemistry and atomic force microscopy. ACS Chem. Neurosci. 2013;4:535539. doi: 10.1021/cn300231q. [PMC free article][PubMed][Cross Ref]
109. Feng D., Lazar M.A. Clocks, metabolism, and the epigenome. Mol. Cell. 2012;47:158167. doi: 10.1016/j.molcel.2012.06.026. [PMC free article][PubMed][Cross Ref]
110. Shimizu T. Binding of cysteine thiolate to the Fe(III) heme complex is critical for the function of heme sensor proteins. J. Inorg. Biochem. 2012;108:171177. doi: 10.1016/j.jinorgbio.2011.08.018.[PubMed][Cross Ref]
112. Burris T.P. Nuclear hormone receptors for heme: REV-ERBα and REV-ERBβ are ligand-regulated components of the mammalian clock. Mol. Endocrinol. 2008;22:15091520. doi: 10.1210/me.2007-0519. [PubMed][Cross Ref]
113. Yin L., Wu N., Lazar M.A. Nuclear receptor REV-ERBα: A heme receptor that coordinates circadian rhythm and metabolism. Nucl. Recept. Signal. 2010;8:e001. [PMC free article][PubMed]
114. Iwadate R., Satoh Y., Watanabe Y., Kawai H., Kudo N., Kawashima Y., Mashino T., Mitsumoto A. Impairment of heme biosynthesis induces short circadian period in body temperature rhythms in mice.Am. J. Physiol. Regul. Integr. Comp. Physiol. 2012;303:R8R18. doi: 10.1152/ajpregu.00019.2011.[PubMed][Cross Ref]
"Remember.Research is the key to your cure!"
PCT and Darlene Folkes - how the APF helped me personally
Friday - May 2, 2014 @ 17:57:20
Darlene Folkes
A New Doctor, and Help for PCT
Darlene Folkes is 44 years old, married, with two children. She lives on beautiful eastern Long Island, New York, which pokes out past the Long Island Sound and towards the Atlantic Ocean. Living out there, having two children to look out for, and working as teaching assistant in a local school Darlene has plenty of opportunities to be exposed to the sun.
Exposure to the sun eventually marked Darlene's symptoms unambiguously last Spring, but they started before that, with tea-colored urine, prompting her primary care physician to send her to a rheumatologist to be evaluated for possible lupus. While she was seeing the rheumatologist, her primary care physician became concerned about her gallbladder. It was in the process of getting ready to have her gallbladder removed that Darlene started getting a lot more exposure to the sun.
Wanting to lose a little weight and get in better physical condition, she started spending more time walking out of doors. This was in May of 2008, and that was when her blisters started forming prickly bumps on the backs of her hands that turned into half-dollar sized blisters that refused to heal. The blisters were very painful and getting worse, prompting her doctors to consider some sort of sun allergy or other allergic reaction.
Finally, Darlene visited an urgent care clinic, where doctors did a smear of the blisters and sent her to a dermatologist, who did a skin biopsy, and diagnosed her with Porphyria Cutanea Tarda (PCT). Her age makes Darlene typical of PCT patients the disease gets the name tarda (Latin for "late") because patients usually do not experience symptoms before they are in their 40s.
Once she had a diagnosis of Porphyria, Darlene found out about the Mount Sinai Porphyria Clinic (in New York City, three hours from her home) through a friend of her aunt who had heard of Dr. Lawrence Liu, one of two doctors who staffs the clinic. She describes meeting Dr. Liu for the first time as an almost revelatory experience, calling him "a breath of fresh air," for his compassionate bedside manner, and for being the first doctor she encountered who really understood Porphyria and took an interest in all of its effects on her. Dr. Liu was also the person who let Darlene know about the existence of the APF.
Since then, Darlene has become an APF member and started receiving the newsletter, and has carefully followed Dr. Liu's advice to avoid the sun while her blisters heal, and to avoid alcohol entirely. Her local doctor was unfamiliar with treatments beyond phlebotomy for PCT, and did not want to remove any of her blood as her counts were already low. Dr. Liu started her on low-dose chloroquine (taken in pill form), which was improving her symptoms somewhat when we spoke. Dr. Liu also did a biopsy of her liver and found out that she fortunately suffers none of the liver damage that sometimes affects PCT patients. The liver biopsy was something she had asked her local doctors about with no reaction.
In addition to the blisters, Darlene had the additional hair growth on her face and legs that is characteristic of PCT. But she says the worst part is having blisters on her hands, because "you do everything with your hands," making it easy to re-injure them, and hard for them to heal. Working with children, and not wanting to make waves at work or air her problems in public, Darlene tried strenuously to protect herself from the sun while doing playground duty while the kids were at recess. She wore gloves and big hats, and tried to watch the kids from the shady portions of the schoolyard. She is lucky enough to have a school principal who asked about her out of concern and has now adjusted her responsibilities so that she can stay out of the sun.
On her way to diagnosis, Darlene had a surgery she now believes could have been avoided with proper treatment of her PCT, and in addition to suffering symptoms of the disease itself, she has lived with the stress and grief of symptoms her doctors would not recognize. In this new, hopeful period in her life, now that her care is being guided by an expert, she speaks about having newly increased sympathy for the difficulties that elderly and infirm people suffer. It is our hope that with appropriate treatment and precautions, Darlene will achieve a complete recovery from her own illness, and that her new found sympathy for others will no longer have to be accompanied by her own suffering!
"Remember.Research is the key to your cure!"
APF- Preparing for your appointment worksheet
Wednesday - April 30, 2014 @ 14:50:27
American Porphyria Foundation
Preparing for Your Appointment
We want to be sure all of your questions and concerns have been addressed and you feel comfortable with the answers. Use this form to prepare for your visits and bring it with you to your appointment. Please let your Doctor or nurse know if you need to speak with someone else from your team before you leave for the day.
Appointment Date and Time:__________________________ Providers Name:_____________________
Other items to Discuss with my Health Care Team (such as pain, side effects, emotional concerns, additional services needed to help manage my Porphyria care at home)
Medication refills I need.__________________________________________________________________________________________________________________________________________________________________________________________________________________________________________
Is there anyone else I need to Talk to About My Concerns?(such as a dietitian, oncology, hematology, specialist)
Helpful Questions to Ask
vWhat type of Porphyria do I have?
vWhat treatment options do I have?
vWhat are the side effects of the treatment?
vDo I have my Porphyria Emergency Kit with me?
vDo I have my Safe /Unsafe Drug lists? {Acute Type Only)
vHow long is my treatment, test or surgery?
vDo I need to stop or adjust any of my medications before my treatment, procedure or surgery?
vWill I need to stay in the hospital or infusion clinic?
vWhat will the outcome of my treatment typically be?
vWhat are Clinical trials? Should I consider a clinical trial?
The American Porphyria Foundation 4900 Woodway, Suite 780 Houston, TX 77056-1837 Toll free: 866-APF-3635 Telephone: 713-266-9617 Fax: 713-840-9552 Patient Advisory Board ALC 8/2013
"Remember.Research is the key to your cure!"
A special thought
Wednesday - April 30, 2014 @ 12:51:52
Please take some special time to think of all those that are going through such difficult times. This world we live in is truly troubled with problems Sickness~ physically, mentally and emotionally. It can stress us out and make us ill. We may have family, friends who help and listen to us but they really never will ever know how we really feel inside we hide and cover it up. So please take time to learn about your porphyria friends listen, learn, volunteer just being there means the world to all of us.
www.porphyriafoundation.com
"Remember.Research is the key to your cure!"
Longitudinal Study of the Porphyrias
Friday - April 25, 2014 @ 10:30:01
Longitudinal Study of the Porphyrias
We continue to share ongoing porphyria studies, please consider being a part of them.
The 7201 Longitudinal Study of the Porphyrias is a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes in people with these disorders. We expect to enroll at least 600 incident cases during the 5-year study period.
The purpose of this long-term follow-up study is to provide a better understanding of the natural history of porphyrias, as affected by available therapies, and to aid in developing new forms of treatment.
The general research questions are:
What is the prevalence of specific indicators of disease severity, including neuro visceral and cutaneous manifestations, levels of porphyrin precursors and porphyrins, quality of life, long term effects on the liver, kidneys and other tissues, and case-fatality associated with the various forms of porphyria?
What are the relationships between disease severity and progression and various biological characteristics, contributing endogenous and environmental factors and levels of porphyrin precursors and porphyrins?
What is the safety and efficacy of currently used and new therapies for the human porphyrias, especially in the long term?
In order to participate in a study, please contact us at the APF 866-apf-3635. For research studies sign up please email Amy Chapman at Amy.APF@gmail.com
"Remember.Research is the key to your cure!"
Research Studies Available!
Thursday - April 24, 2014 @ 17:57:45
Research Studies Available!
Dear APF Members,
We hope you will consider being a part of seven ongoing research studies. Now is the time to join the many other people who are helping porphyria researchers in finding new treatments leading to a cure. In the following E-news we will cover each study individually.
In most research studies, you will not be asked to take an experimental drug, rather, you will be asked to contribute your blood, DNA and/or urine and answer pertinent questions. Patients, who participate in research, make it possible for researchers to find new treatments, create new studies and work for the improvement of lives that are affected by rare diseases.
By joining our registry, you will be contributing to the research of the Rare Diseases Clinical Research Network.
Participation in research makes it possible for researchers to:
provide the best possible care to patients affected by rare diseases
improve methods in studying your disease
achieve deeper understanding of your disease and its causes
find new treatments
create new studies
Please contact the APF 713.266.9617 to see the list and parameters. You will be placed in direct contact with the research team.
APF T-Shirt Awareness Fundraiser
The National Porphyria Awareness Week is in its full force! Let's continue to educate our families, friends, physicians and others about porphyria. If you want to give your loved one a gift and raise awareness for the American Porphyria Foundation consider getting an awareness t-shirt!
A Personal story From a Husband and Caregiver about his wife with AIP
Wednesday - April 23, 2014 @ 10:30:02
A Personal story from a Husband and Caregiver about his wife with AIP
Kim Willis-Bregmen
Type of Porphyria:
Acute Intermittent Porphyria (AIP)
My wife and I live in Otaki which is a small rural community one hour north of Wellington on the North Island of New Zealand. I thought you might be interested in the story of how my wife manages Acute Intermittent Porphyria (AIP) in a country that has no specialist centre for Porphyria and consequently no specialists.
Kim was admitted to our nearest hospital in 2003 with abdominal pain, back pain, vomiting, and sore arms and legs, and was in a very bad way. Her blood pressure rose dangerously high, and she suffered a mini-stroke and multiple seizures and spent days in intensive care whilst tests were done to investigate the diagnosis of porphyria. Kim's grandfather had died of a condition that fit the symptoms of porphyria but was never diagnosed. Her mother was also very sick with multiple hospitalisations at a similar age (Kim was 36 at the time of this first hospitalisation), but was never diagnosed either. In Kim's case, tests were completed and AIP was the diagnosis.
Kim spent 13 weeks in hospital and rehabilitation during this first visit and ended up under the care of a gastroenterologist who had worked in England and had seen similar symptoms in patients diagnosed with porphyria. Kim's need for physiotherapy was a result of the major nerve damage she sufferedshe had to learn to use her hands and legs again, at the end of what would prove to be only the first of 30 hospitalisations in a three-year period. For most of these hospitalisations we dealt with the same nightmare over and over again: Kim would be admitted through the Emergency Department, receive delayed treatment because she had no treatment programme in place or she simply received the wrong treatment, which made her condition worse.
Kim's hospitalisations seemed to cycle with the start of her periods, and every month she was hospitalised with an attack that took a toll on her bodyshe had renal problems, neuropathy, severe weight loss and loss of bone density. At hospital they couldn't stop the acute attacks, they could only wait until the attacks subsided and then stabilise the problems caused by the attacks. Treatment was basically intervention glucose therapy to stabilise her, while eliminating all other complications that were presented.
After Kim's three years in and out of hospital, I began searching the Internet and joined the American Porphyria Foundation. It was here, through members' stories, that I managed to get information about managing this condition and stabilising Kim's health, including finding out what treatment was used overseas. I don't know what we would have done without the Internet and the group support. I suppose we would be still struggling to this day.
I passed my findings on to our specialist, who agreed that we should try heme therapy to control Kim's condition. Kim and I had decided to fund the first dose ourselves, but our specialist presented Kim's case to the health authorities, and fortunately based on the cost of hospitalisation and the damage being done to Kim's body, we got funded. Kim was finally treated with heme therapy for the first time in September/October 2005 with a marked improvement in pain control and reduced time spent in hospital.
Kim was administered heme therapy as an inpatient as we are one hour from the nearest hospital and there was no one local who was certified either to mix and administer the heme or to access Kim's portacath. Now the local district nurse is certified to access the portacath and to draw lab tests to monitor Kim's condition.
Eventually we got to a position where Kim received hemin early in an attack and this stopped the attack before it progressed and did serious damage. Kim's story is really about the struggle of living with AIP for years with no support network, and about the frustrations of not being able to tame the beast until our lucky break with heme therapy.
Kim's final hospitalisation was in February 2007. The months that followed were filled with physiotherapy where Kim learned to use her arms and legs again, as much of her muscle had wasted away and been damaged by neuropathy-related problems.
At the time of her first hospitalisation, Kim had worked for 16 years as a sales executive for a local radio station. The station held her position open for her for a year beginning with her first attack, but as her health didn't improve the position was filled. Kim rejoined the work force part time as an assistant for the managing director of the New Zealand Radio Training School in March of 2008. In January 2009 Kim accepted the job of General Manager for the school. She now works four days of each week in Wellington and one day from home and loves every moment.
Kim has ongoing issues with abdominal pain, back pain and pain in her limbs, which she manages with a better diet and the removal of all things that could precipitate another attack. Kim also takes medication for pain and takes a few days out of her busy job when it all gets too much. All things considered, she now lives a pretty normal life.
We also have a hospital admission process in place that bypasses the emergency department so that Kim can go straight to a ward to have immediate pain relief and heme infusion.
We are confident that with the knowledge we now have, and support networks and treatments in place, we are very well equipped to tackle this purple monster head-on should we ever have the misfortune to encounter its fury again. We have never had to use this new process and hopefully won't have to in the future.
Our son has been DNA tested and carries the same gene for AIP as Kim and her mother. He is 18 and has no complications to date.
Blair Bregmen Husband and caregiver
"Remember.Research is the key to your cure!"
Your HELP Matters!
Tuesday - April 22, 2014 @ 16:02:23
Your Help Matters!
The APF is able to maintain our physician and patient education programs and many other services because of your support and donations. We are working hard to provide patients, family members, as well as doctors with the precise and correct educational information. All the publications, pamphlets and brochures were designed by our Scientific Advisory Board of porphyria experts.
We strive for a better and healthy future for us and our children, thus we train 20 future experts through the APF "Protect the Future" training program. Please consider making a donation to this program. Yours and your children's future health depends on each of us supporting the training of doctors who will know how to treat the disease and perform research when our present experts retire.
With your help we also fund numerous porphyria research projects (there are 8 ongoing projects now), as well as social media programs. It is easy to think that someone else can keep the APF at work, but it takes all of us. With your help, support and tax deductible donations we make it all possible. Thank you for your contribution. If you have any suggestions, questions, or you would like to make a donation, please contact the APF: 866-APF-3635.
APF Members Promoting Porphyria Awareness
The Cook brothers, Cason and Caul, will continue a HAT DAY tradition for Porphyria Awareness Week 2014. Both brothers have EPP and have set a great example about enhancing awareness of the disease in their home town of Vernon, TX. The boys will raise funds for the APF by hosting HAT DAY where everyone at their schools who wanted to participate could wear a hat in honor of the brothers and bring one dollar for the APF.
Amanda Rich is making purple bracelets for survivors. The bracelets are handmade and can be personally designed.
"Remember.Research is the key to your cure!"
The APF is YOU!
Tuesday - April 22, 2014 @ 15:47:34
The American Porphyria Foundation is YOU! How you may ask?
Have you given thought to support one of the many Research projects going on? We have Protect the Future- Doctors Education, Research projects from answering questions to much more.
Have you told your Doctor that there is a Doctor Kit that they can get for Free from The American Porphyria Foundation! Does he/she need to know about your condition please contact them 1-866-APF-3635 for additional information.
If you have Acute type Porphyria Do you need to purchase an ER comprehensive Kit you should have one and you will have a list of all medical tests, safe/unsafe Drug lists Questions to ask your Dr and so much more it comes in a binder all ready for just 35.00 Dollars what a good value.
Have you considered making a financial donation to the APF? What about becoming a member receiving the newsletters, announcements and other valuable information. Why wait? These are some of the ways you can help a very rare cause! But it all starts with YOU!
"Remember..Research is the key to your cure!"
APF T-Shirt Awareness Fundraiser- Do you have your yet! Show yours for a great cause this week!
Monday - April 21, 2014 @ 17:16:28
APF T-Shirt Awareness Fundraiser
Want to give your loved one a gift & raise awareness for the American Porphyria Foundation?
Please Include: Name, complete address, and phone number. Also include the Quantity of T-shirts and the size for each one.
To accept payment: 1 of 2 options I can accept a VISA/MC only. I must have full name on the card, account#, exp. date, 3 digit code on the back of card CVV-.
Your information is kept secure, never shared or put on a list.
We will accept a money order & personal checks. You must have name/address/phone # on them.
For privacy purposes I will be happy to email you the address to send your check or money order to. Once I receive the order I will ship out your product.
All products will be shipped out Priority mail with tracking. Each person will receive a receipt with their Purchase.
"Remember..Research is the key to your cure!"
*T-Shirt Fundraiser is being ran and managed by APF Member and Volunteer Amy Chapman.
A life indoors for toddler who is allergic to sunlight
Monday - April 14, 2014 @ 15:51:14
A life indoors for toddler who is allergic to sunlight
I was passed this information on this article for those that may have a type or skin condition. Please read about this little girl. Please share and pass it along. Those that may have EPP, CEP or XLP and would like information please contact the American Porphyria Foundation 866-APF-3635.
"Remember.Research is the key to your cure!"
PAINFUL CONDITION: Little Monroe Mills lives with solar urticaria and hopes a hydrotherapy bath will make life more comfortable.
MOST parents take for granted the ability of their children to play outside.
For young Monroe Mills of Nambucca Heads, New South Wales, going outside in the sun ends in extreme pain and regular hospital visits.
"Monroe suffers from a rare form of eczema that is known as photo-aggravated eczema," her mother Sarah Mills said.
"This means any ultra violet exposure leaves her in pain for days.
"Monroe has battled this condition since birth.
"She has never slept a full night in her life and has spent more time in hospital in a year than most people have in their lives."
Monroe has also been diagnosed with an allergy to the sun known as solar urticaria.
The disease is rare, particularly in someone of Monroe's tender age and despite medical attempts to find permanent relief, sadly there is no cure.
For now, wet wrapping is the only therapy that keeps Monroe out of hospital for extended periods, however it's only a short-term fix and means she must wear a body stocking from head to toe every time she leaves the house.
A Miracle for Monroe fundraising campaign is underway to help Monroe's family purchase a hydrotherapy bath.
It will give Monroe a chance to shine beneath the suffering and discomfort.
On Monday 4/14/14, APF member, Pierre Mouledoux, will go before the Louisiana State House of Representatives Transportation, Highways and Public Works Committee to testify for the legislation regarding tinted windshields for Medical Exemptions. He is requesting if you have photosensitivity, like with EPP, and live in Louisiana, please contact your Representatives or Senators to support House Bill HB 1127.
The APF is able to maintain our physician and patient education programs and many other services because of your support and donations. We are working hard to provide patients, family members, as well as doctors with the precise and correct educational information. All the publications, pamphlets and brochures were designed by our Scientific Advisory Board of porphyria experts.
We strive for a better and healthy future for us and our children, thus we train 20 future experts through the APF "Protect the Future" training program. Please consider making a donation to this program. Yours and your children's future health depends on each of us supporting the training of doctors who will know how to treat the disease and perform research when our present experts retire.
With your help we also fund numerous porphyria research projects (there are 8 ongoing projects now), as well as social media programs. It is easy to think that someone else can keep the APF at work, but it takes all of us. With your help, support and tax deductible donations we make it all possible. Thank you for your contribution. If you have any suggestions, questions, or you would like to make a donation, please contact the APF: 866-APF-3635.
APF Members Promoting Porphyria Awareness
The Cook brothers, Cason and Caul, will continue a HAT DAY tradition for Porphyria Awareness Week 2014. Both brothers have EPP and have set a great example about enhancing awareness of the disease in their home town of Vernon, TX. The boys will raise funds for the APF by hosting HAT DAY where everyone at their schools who wanted to participate could wear a hat in honor of the brothers and bring one dollar for the APF.
Amanda Rich is making purple bracelets for survivors. The bracelets are handmade and can be personally designed.
"Remember.Research is the key to your cure!"
A Personal Story From Nathan Wayne Carr- Pass it on
Wednesday - May 21, 2014 @ 19:36:28
Nathan Wayne Carr ~ How Porphyria can get one feeling low
Type of Porphyria:
Hereditary Coproporphyria (HCP)
How Porphyria can get one feeling low
Recently, I posted on Facebook how I have been dealing with my mental state. I just need to reach out to my Porphyria family. For the past few months, I have not been answering my telephone or keeping medical appointments. Friends have been calling and the power on the cell has been off. I have been feeling overwhelmed, seems as if I only have enough energy to deal with me. My doctor asked me to see psychologist months ago, but I never went to the appointment. I told myself I could handle it. I definitely needed a Prozac adjustment. I am trying hard to climb out of this space, I keep a lot to myself about how I feel, but I can share with you all easily. I need to be true to myself.
When I was asked to write this article regarding depression and anxiety, my mind went back over twenty years ago, when I finally received a diagnosis. I was given information to contact the American Porphyria Foundation, and I was happily waiting to receive the information packet. When it arrived, I was set and ready to read the Porphyria booklet from cover to cover. I started reading, but every time I got to the symptoms section I kept closing the book. I kept getting stuck on mental afflictions, but thought they do not apply to me.
It is morning, and I am awake. I feel as though I arise into a world that is not my own. A world formed from the elements of the earth that my body cannot withstand: the sun, UVA and UVB rays, weeds, trees, mold, grass and a variety of foods. I was once meeting with a doctor and he told me I was in denial of my condition, which was true at the time. I just wanted it to be a bad dream, and I would awake lying on the beach soaking up the sun.
But this is my reality and I too have to except it. I was in a dark place. I felt as though I was in a hole unable to crawl out. I have the support of many wonderful friends and family members that are concerned about me, but, during those times of depression I shut off mostly everyone. I didnt answer my telephone nor returned calls to those who cared.
I had to find a way to pull myself up out of the self-pity I was wallowing in. I was so tired of the pain, nausea, no appetite, weight loss and the constant medical bills that kept pouring in. One day, with the help of friends, I pulled through. I had to remind myself that this too shall pass. I have been here before and made it. I was focusing on what maybe yet to come and not on what was taking place in the moment; that I am surrounded by a loving family and friends who love me as I am and concerned about my well-being. And that God has always been my rock, provider and protector. I am learning to be content.
I also had to make a decision to take better care of myself by keeping my medical appointments that were regularly scheduled. Yes, I do get tired of going to the doctors. I recently joined the YMCA so that I can strengthen my body and clear my mind. At times, workouts can be painful especially during times of muscle weakness or mild crisis. But with a new determination I arise. I thank God for my parents, sisters, daughters, granddaughters and friends that are understanding and encourage me to take better care of myself regardless of my situation.
I have made an appointment with a psychologist. This time I do plan on building a relationship with this individual to help me cope with these issues and find things to do that I enjoy. I do not know why I feel so selfish when I have to make decisions for myself and my well-being regardless of how others feel. I do think that the medical issues I had last year changed me and my body.
I am satisfied with seeing my new psychologist, being able to speak freely about how I feel and to help me cope with daily living. We know that living with Porphyria is very painful and difficult to carry out everything we have planned. I have just learned to expect the unexpected and that I have to be prepared for any changes in my life. From what I have gone through in the past reminds me that I can cope with the future. I am making it one day at a time.
I had to remove some individuals from my life that just could not understand my illness or caused me stress and it made me feel better. I am spending time concentrating on myself, eating more, walking daily, spending time in the gym and surrounding myself with friends and family that make me laugh and do not try to fix me.
I love myself just the way I am. I was beautifully made by the hands of God. He knew me while I was in my mothers womb. So he was aware of my situation and is prepared to help me through it.
The Porphyria Consortium is pleased to let you know the Carolinas Medical Center & Healthcare System is now enrolling patients for our study:
Clinical Diagnosis of Acute Porphyria (7204)
About This Study
The porphyrias are a group of genetic diseases caused by disturbances in the formation of heme, an essential component of hemoglobin and other proteins, leading to either acute (neurologic) and/or chronic (cutaneous) symptoms.
Acute porphyria is often difficult to diagnose because symptoms may not be specific. Unless the patient is in an active attack, laboratory values typically may not be useful for diagnosing porphyria.
The purpose of this study is to test whether a focused questionnaire and laboratory evaluation tool can better define risk factors associated with possible genetic porphyria.
Can I Join this Study?
To read more about this study, see if you are eligible or find a clinical center near you, please visit our web site:
If you are already participating in this study, please disregard this email.
Do We Have Your Correct Information?
Stay Informed!
We want to keep you informed with the latest news and information. Keeping your contact information up to date can be done quickly and easily on the Web:
The Porphyrias Consortium is a network of physician scientists, and clinical research resources dedicated to conducting clinical research in the Porphyrias. We Can Help You: Become aware of clinical research and clinical trial opportunities; Connect with expert doctors; Get help in managing your disease. Learn More >
The Porphyrias Consortium is a part of the National Institutes of Health's Rare Diseases Clinical Research Network. For more information, visit:www.RareDiseasesNetwork.org
The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate. Participation in research studies is voluntary. Deciding not to participate in a research study does not affect your ability to receive care at any of our Clinical Centers or from other physicians.
The Rare Diseases Clinical Research Network (RDCRN) was established by the National Institutes of Health (NIH) to develop research studies for rare diseases, and to encourage cooperative partnerships among researchers at over 150 clinical centers around the world. This increased cooperation may lead to discoveries that will help treat and perhaps prevent these rare diseases, as well as produce medical advances that will benefit the population in general. The Rare Diseases Clinical Research Network is comprised of a Data Management and Coordinating Center and 17 consortia studying over 100 rare diseases.
The Porphyrias Consortium is a part of NIH Rare Diseases Clinical Research Network (RDCRN). Funding and/or programmatic support for this project has been provided by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the NIH Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS).
The National Institutes of Health does not endorse or recommend any commercial products, processes, or services. The views expressed in written materials or publications do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government. For more information please email me your name and phone to see if you qualify for this study Amy.APF@gmail.com
"Remember.Research is the key to your cure!"
New APF Video Is Out Now- Check it out
Thursday - March 27, 2014 @ 10:30:07
New APF Video Is Out Now
We are glad to announce that the APF has produced a new short video on porphyria. Dr. Lisa Kehrberg, a physician and a patient who suffers from Acute Intermittent Porphyria (AIP), shared her personal experience dealing with the disease.
Dr. Kehrbergdiscusses a classic porphyria attack along with pain and other symptoms. Being a patient and a doctor herself, Lisa highlights the importance of appropriate tests. She further covers the importance of glucose and Panhematin as treatment options. You can watch the video by following the link below: https://www.youtube.com/watch?v=XzLhHlcR_ro&sns=fb
"Remember.Research is the key to your cure!"
Global Porphyria Alliance What is it? Check it out!
Out of concern for others with porphyria in countries around the world, we hope to place a translation of the For Physician's section of the website in specific languages. The first such translation is already available in Portuguese. This is an enormously important project, and it will require your help.
If you would like to help us extend a hand of friendship and understanding to our friends outside the English-speaking countries, or if you want more information about the Global Porphyria Alliance, please call us at 866-APF-3635 (866-273-3635).
Notice. Along with the Palm Beach patient education meeting on april 5 , there will be other meetings throughout the year. Please watch the APF website for dates and cities . Here are a few definite cites but approx. dates. More meetings and details to be Announced.
Boston, MA. Nov 7-11
San Francisco, CA. Dec. 6-9
Houston, TX. July 2,
Santa Rosa Beach, FL. (Between Destin and Panama City). Oct 11-14. Or early June. Los Angeles , CA.
Atlanta, GA.
Chicago, IL. If you would like to be a part of these exciting Patient Education meetings please contact the American Porphyria Foundation at 866-apf-3635 or visit porphyriafoundation.com "Remember.Research is the key to your cure!"
DNA Testing at Patient Educational Meeting in West Palm Beach FL
Sunday - March 23, 2014 @ 10:30:03
DNA testing at Patient Educational Meeting in West Palm Beach, FL
Dear Members, Dr. Desnick will perform DNA testing during the patient educational meeting at Hyatt Place, West Palm Beach, FL on April 5. DNA testing will be offered for those of you who have a copy of the medical records or confirmed porphyria test results.
Do not miss an exciting opportunity to meet with the renowned porphyria experts Dr. John Phillips and Dr. Robert Desnick! If you still do not have a reservation, contact the APF: 866-APF-3635.
Details of the meeting:
APF Patient Education Meeting
April 5, 2014 3:00pm-5:00pm Hyatt Place West Palm Beach/Downtown - Trinity Room 295 Lakeview Ave, West Palm Beach, FL 33401. Seating is limited.
"Remember.Research is the key to your cure!"
What is VP? The Facts
Friday - March 21, 2014 @ 10:30:01
Variegate Porphyria (VP)
This form of hepatic Porphyria is most common in South Africans of Dutch ancestry. It is relatively uncommon elsewhere. It is an autosomal dominant disorder and may produce acute attacks (as in AIP) as well as chronic skin photosensitivity. The deficient enzyme is protoporphyrinogen oxidase. In acute attacks, urine PBG is increased as in AIP. Diagnosis of latent carriers is made by finding excess coproporphyrin in urine and both coproporphyrin and protoporphyrin in feces, or by DNA mutation analysis (see AIP). The most sensitive screening test for VP is probably a plasma porphyrin assay. In patients with skin manifestations, it is important to distinguish VP or HCP from PCT, because treatment by phlebotomy or low-dose chloroquine is ineffective in VP and HCP. Acute attacks are managed and may be prevented as in AIP.
Rememberâ?¦..Research is the key to your cure!
All about EPP!
Monday - March 17, 2014 @ 21:55:02
Erythropoietic Protoporphyria (EPP) or Protoporphyria
Erythropoietic Protoporphyria (EPP) or Protoporphyria
Erythropoietic Protoporphyria is characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells) and plasma (the fluid portion of circulating blood), and by sensitivity to visible light that is usually noticed in early childhood and occurs throughout life. EPP can result either from mutations of the ferrochelatase gene (FECH), or less commonly the delta-aminolevulinic acid synthase-2 gene (ALAS2). When EPP is due to an ALAS2 mutation it is termed X-linked protoporphyria (XLP), because that gene is found on the X chromosome.
Protoporphyrin accumulates first in the bone marrow in EPP, and then in red blood cells, plasma and sometimes the liver. Protoporphyrin is excreted by the liver into the bile, after which it enters the intestine and is excreted in the feces. It is not soluble in water, so is not excreted in the urine.
EPP is the third most common type of porphyria, and the most common in childhood. It causes very painful photosensitivity and can greatly impair quality of life. Delay in diagnosis is greater than with any other type of porphyria.
Swelling, burning, itching, and redness of the skin may appear during or after exposure to sunlight, including sunlight that passes through window glass. This can cause mild to severe burning pain on sun-exposed areas of the skin. Usually, these symptoms subside in 12 to 24 hours and heal without significant scarring. Blistering and scarring are characteristic of other types of cutaneous porphyria but are unusual in EPP. Skin manifestations generally begin early childhood and are more severe in the summer.
There is an increased risk of gallstones, which contain protoporphyrin. Excess protoporphyrin can also cause liver damage. Less than 5% of EPP patients severe liver damage and a condition caused protoporphyric hepatopathy that sometimes requires liver transplantation.
Diagnosis and Genetic Counseling
EPP should be suspected in anyone with non-blistering photosensitivity especially when is it prolonged and beginning in childhood. It is easy to make a diagnosis, or rule it out, once it is suspected.
The diagnosis of EPP is established by finding an abnormally high level of total erythrocyte protoporphyrin, and showing that this increase is mostly free protoporphyrin rather than zinc protoporphyrin. There is considerable confusion about which test to order. Sometimes laboratories have measured only zinc protoporphyrin and reported results incorrectly as protoporphyrin or free erythrocyte protoporphyrin (FEP). Laboratories that measure total erythrocyte protoporphyrin, free protoporphyrin and zinc protoporphyrin and report results reliably are:
Porphyria Laboratory and Center, University of Texas Medical Branch at Galveston, 1-409-772-4661
Mayo Medical Laboratories, 1-800-533-1710
ARUP Laboratories
Porphyrins are almost always elevated in plasma in EPP, but may be normal in mild cases. Fecal porphyrins may be normal or increased.
An experienced biochemical laboratory can usually distinguish between patients with EPP and XLP, because the former have much less zinc protoporphyrin in their erythrocytes. This can be explained because in the marrow the enzyme ferrochelatase not only normally makes heme (iron protoporphyrin) from protoporphyrin and iron, but can also make zinc protoporphyrin, especially when excess protoporphyrin is present or iron is deficient. However, this does not replace DNA studies.
Rarely, EPP develops in adults in the presence of a bone marrow disorder such as polycythemia vera, and is due to expansion of a clone of red blood cell precursors in the marrow that is deficient in ferrochelase.
DNA studies are important for confirming the diagnosis of EPP and XLP and for genetic counseling. This should be completed first in a person known to have the disease, and the information about the mutations in that individual used to guide testing of family members.
When EPP is due to a FECH mutation the inheritance is described as autosomal recessive. It is most common to find that one severe mutation is inherited from one parent and another weak mutation inherited from the other parent. The weak mutation is quite common in normal Caucasians, rare in Blacks and even more common in Japanese and Chinese populations. This mutation is sometime referred to as hypomorphic because it results in formation of a less than normal amount of ferrochelatase. But is does not cause EPP unless it is paired with a severe mutation. The severe mutation is characteristic for an EPP family and is present in all affected individuals. Carriers of the severe mutation are not affected because they do not have the weak mutation. Affected individuals and unaffected carriers can transmit the severe mutation to the next generation. Some of their children will have EPP if the other parent has a copy of the weak mutation. Rarely, the weak mutation is absent in an EPP family and two severe mutations are found, with at least one producing some ferrochelatase.
In XLP, mutations of the ALAS2 gene, which is found on the X chromosome, causes an increase in the production of the enzyme ALAS2 in the bone marrow. Several of these gain of function mutations have been described in different XLP families. In XLP protoporphyrin production exceeds that needed for heme and hemoglobin formation. Like hemophilia and other X linked genetic diseases, XLP is more common in men. Women have two X chromosomes and are usually not affected because they have a normal as well as a mutatedALAS2 gene. Men have only one X chromosome and will be affected if they inherit an ALAS2mutation. Women with an ALAS2 mutation will, on average, pass that mutation to half of their daughters (who will usually be unaffected carriers) and to half of their sons (who will be affected).
Treatment and Management
1. Sunlight protection
Protection from sunlight is the mainstay of management of EPP, and this is necessary throughout life. Disease severity and porphyrin levels in erythrocytes and plasma probably remain high and relatively constant throughout life in EPP. However, this has been little studied and more longitudinal observations are needed. Life style, employment, travel and recreation require adjustment in order to avoid painful reactions to sunlight and even from exposure to fluorescent lighting. For these reasons EPP can substantially affect quality of life.
Protective clothing, including broad-brimmed hats, long sleeves, gloves and trousers (rather than shorts), is beneficial. Several manufacturers specialize on clothing made of closely woven fabrics for people with photosensitivity.
2. Beta-Carotene (Lumitene Tishcon)
Beta-carotene is an over the counter product that was originally developed in a purified form as a drug for the treatment of EPP, and was shown to be effective by Dr. Micheline Mathews-Roth at Harvard University and others. The pharmaceutical grade formulation is now distributed by Tishcon as Lumitene, and can be ordered by calling 1-800-866-0978 or via the website www.epic4health.com. Other products are less standardized and reliable and are not recommended.
Beta-carotene provides protection by quenching reactive oxygen products that form when protoporphyrin is activated in the skin by light. It is important to take an amount that is adequate to be protective. For more information about Lumitene, including a recommended dosing schedule, please see the Lumitene section of this website.
3. Other considerations
In an occasional patient, protoporphyrin causes liver problems, so monitoring liver function is important. EPP patients should also not use any drug or anesthetic which causes cholestasis (slowing down bile flow), and should also avoid alcohol. Women should avoid medications containing estrogen (birth-control pills, hormone replacement therapy), and men should avoid testosterone supplements, as these substances can also have deleterious effects on the liver of a person with EPP.
Consult a specialist. Because EPP is a rare condition, most physicians are not knowledgeable about it. Primary care or Emergency Room doctors can contact EPP expert: Dr. Micheline Mathews-Roth, Harvard Medical School, 617-525-8249. The American Porphyria Foundation, 713-266-9617 can also provide further information. A Medic Alert bracelet with instructions to contact a specialist if needed is a worthwhile precaution.
Yearly monitoring. Testing to include erythrocyte total protoporphyrin, plasma porphyrin, complete blood counts, ferritin and liver function tests should be done yearly. Porphyry levels are expected to be stable and liver tests to remain normal. EPP patients may have evidence of iron deficiency, and an iron supplement may be advisable if the serum ferritin is below about 20 ng/mL.
Vitamin D. Because they avoid sunlight, EPP patients are likely to be deficient in vitamin D. A vitamin D supplement with calcium is recommended for bone health.
Liver protection. It is important to avoid other causes of liver disease that might promote the development of liver complications from EPP. Patients should avoid alcohol and other substances that might damage the liver, including many herbal preparations, and be vaccinated for hepatitis A and B.
Surgical lights. Strong operating room lights can cause photosensitivity of the skin and even surfaces of internal organs. Flexible membrane filters, such as CL5-200-X from Madico Co., are available to cover surgical lights and offer some protection. This is especially important in EPP patients with liver failure, which causes even greater increases in protoporphyrin levels and photosensitivity.
Drugs. Drugs that are harmful in other porphyrias are not known to make EPP worse, but are best avoided as a precaution. This may include estrogens and other drugs that might reduce bile formation. A short course of a non-steroidal anti-inflammatory drug can provide some pain relief after an episode of photosensitivity, but can cause ulcerations of the digestive track especially with prolonged use.
Laser treatment. According to Dr. Roth, laser treatments for hair removal or eye surgery have not been a problem in EPP people. But the doctor should be made aware of the diagnosis, and that laser output between 400 and 650 nanometers might be harmful. Before hair removal treatment, the doctor may irradiate a small area of the skin to be treated for the length of time it will take to do the hair removal to ascertain if the patient would react within the period of time that a reaction to sunlight would be expected in that patient.
Children with EPP. Avoiding sunlight can be difficult for children with EPP who have less sunlight tolerance than their friends. Camp Discovery is an option for such children. It provides a week-long summer camping experience of fishing, boating, swimming, water skiing, arts and crafts, and just plain fun for young people with skin disorders, and is sponsored by the American Academy of Dermatology. Full scholarships, including transportation, are provided by the American Academy of Dermatology through generous donations of their members and other organizations. Members of the Academy are asked to recommend candidates for Camp Discovery, so ask your child's doctor about sending your child to Camp Discovery.
Disneyland and Disney World are responsive to people with sun sensitivity. They will provide a pass to enable you to enter attractions without waiting in line in the sun.
Disneyland Go to "Town Hall" and explain your problem with photosensitivity. You should bring a physician's letter with you as well as an APF brochure explaining the type of Porphyria you have. The staff will ask you some questions about your limitations (e.g., whether or not you can climb stairs) and how many are in your group. Next time you return, be sure to bring the old card with you, as it will only take about half as long to go through the process on your next trip.
Disney World Proceed to the "Guest Relations" office at any park (Magic Kingdom, EPCOT, etc.) and request the Special Assistance Pass.
Remember to bring a doctor's note and explanation of your condition, because it is not necessarily visible. People on duty may not be familiar with light sensitivity and its consequences.
Research Opportunities
Patients with EPP and XLP can participate in the research through the Porphyrias Consortium. The American Porphyria Foundation has information on what research protocols are currently open.
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The Porphyrias Consortium is conducting a Longitudinal Study to better define the natural history of the disease. This study is currently open for enrollment of new patients.
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The Porphyrias Consortium will be starting a pilot study soon on a drug that may lower porphyrin levels in EPP.
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Clinuvel Pharmaceuticals is developing afamelanotide (Scenesse) for the treatment of EPP. This drug is given by injection and increases skin pigmentation. Another study of this drug is expected to open within the next year.
All patients with porphyria are encouraged to enter the Porphyrias Registry at the Porphyrias Consortium website. A link to this website is found on the website of the American Porphyria Foundation. Registration demonstrates to NIH that patients and their families think that research on porphyrias is important. You can also ask that one of the 6 porphyria center in the Consortium contact you.
Rememberâ?¦..Research is the key to your cure!
Resources for Acute Porphyria patients
Thursday - March 13, 2014 @ 15:16:14
If you have Acute type Porphyria and need additional resources for your Dr check these out below:
Resources for your patients
Encourage your patient to learn as much as possible about AIP by visiting these websites:
The American Porphyria Foundation was founded in 1982 to educate doctors and the general public, raise funds for research, and advocate for better policy and patient care.
The Merck Manual offers an informative page about AIP and its signs and symptoms.
The U.S. National Library of Medicine is the worlds largest medical library. Its porphyria page draws from information from the National Institutes of Health and other sources.
Rememberâ?¦..Research is the key to your cure!
EMAs review of SCENESSE extended to mid-2014
Thursday - March 13, 2014 @ 15:13:57
EMAs review of SCENESSE extended to mid-2014
Melbourne, Australia and Baar, Switzerland, January 30, 2014
Clinuvel Pharmaceuticals Limited (ASX: CUV; XETRA-DAX: UR9; ADR: CLVLY) today announced that the European Medicines Agency has extended the marketing authorisation application (MAA) review period for its drug SCENESSE (afamelanotide 16mg implant) to mid-2014. Clinuvels MAA for SCENESSE is aimed at a preventative treatment of the orphan (rare) light-intolerance disorder, erythropoietic protoporphyria (EPP) in adult patients. Clinuvel filed the MAA with the Agency in February 2012.
The review of a first-in-class drug, albeit for an untested disease in which light exposure plays a dominant role, was always going to be subject of a lengthy regulatory review, Clinuvels acting Chief Scientific Officer, Dr Dennis Wright said. In this case, the Agency has requested additional time to review the clinical data of the US Phase III study in EPP (CUV039) study which was submitted last year. The evaluation clock has been stopped until June 2014. During this time the company will work with the EMA to address any further questions which may arise.
The company has much confidence in the EMAs approach to learn as much as possible about the clinical aspects of the disease and the clinical relevance of the treatment to patients, Clinuvels CEO, Dr Philippe Wolgen said. This extended review period will also allow time for EPP patients and expert physicians to share their experience with the EMA.
Clinuvel Pharmaceuticals Limited
Rememberâ?¦..Research is the key to your cure!
Running over obstacles to raise Awareness for Porphyria
Wednesday - March 12, 2014 @ 15:51:21
Running over obstacles to raise Awareness for Porphyria
Merideth McGinley is a new APF member but is already a very active one. Merideth says that the main goal of her fundraising event is to raise as much awareness for porphyria as possible. Merideth says, "My last visit to the hospital really opened up my eyes to how little medical professionals really know about the disease. If my fundraiser can help just one person has an easier experience with getting diagnosed then I will feel like I truly accomplished something." She goes on to say, "When I was 19 years old, I was diagnosed with Acute Intermittent Porphyria. Since being diagnosed in 2008, I have been in and out of the hospital and it has made me realize many people along with medical professionals do not know what Acute Intermittent Porphyria is or how to treat it. Read moreâ?¦
I have decided to run in the Warrior Dash on August 3rd in order to raise money and awareness about this disease. Read more about the Warrior Dash at http://warriordash.com. All donations made on my APF FirstGiving web page will go to the American Porphyria Foundation which is dedicated to raising awareness along with improving the health and well-being of individuals and families affected by Porphyria. All donations are greatly appreciated and can be made right through the APF FirstGiving site or by sending a check or credit card donation to the APF by calling Toll Free 866.APF.3635
FirstGiving is a web platform that the APF has provided for Fundraisers and Awareness campaigns to make it easy for you and your contributors to use for promoting your campaign and accepting donations that go directly to the APF.
There is no cost to you to set up a Fundraising page under the APF account.
Patient Education Meeting in Hyatt Place, West Palm Beach, Florida
The American Porphyria Foundation will be hosting a patient education meeting in West Palm Beach, FL on April 5, 2014 from 3:oo pm to 5:00 pm EDT.
Dr. Robert Desnick and other renowned porphyria experts will be presenting and answering your questions. The meeting is a wonderful opportunity to meet face to face with the experts and ask your questions. It is also a great moment to meet and join other patients. If you are interested in participating, please contact the APF 1.866.APF.3635 or email at apfnatalia@gmail.com. You can also join a research project. To hear more about hot to get involved, please contact the APF.
Details of the meeting: APF Patient Education Meeting
April 5, 2014 3:00pm-5:00pm Hyatt Place West Palm Beach/Downtown - Trinity Room 295 Lakeview Ave, West Palm Beach, FL 33401. Seating is limited.
New APF Video Is Coming Soon
We are glad to announce that last week the APF has produced a short video on porphyria. Dr. Lisa Kehrberg, a physician and an AIP patient, shared her personal experience dealing with the disease. Dr. Kehrberg discusses a classic porphyria attack along with pain and other symptoms. She further covers the importance of glucose and Panhematin as treatment options. The video will be available soon. Watch the APF news for updates!
Oops
Dear Subscribers, we have to correct a statement about PBG testing that we sent out last week in the e-news. Porphobilinogen (PBG) is not a porphyrin, but rather a precursor of porphyrins in your body. Normally, porphyrins are incorporated (or built) into heme, also an important part of hemoglobin. If this process is interrupted, PBG can build up in your body.
"Remember.Research is the key to your cure!"
Porphyria and YOU!
Friday - February 28, 2014 @ 19:50:06
Do you or a family member have Porphyria? Does a family member have it and you think you might to? Do your symptoms seem to indicate Porphyria? Email me if your interested in seeing how you can sign up for the RDCRN registry to see if you qualify for a research project, there are many studies for all types. Will you consider joining, please email me Amy.APF@gmail.com
Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body of porphyrins or porphyrin precursors. Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends on the type of porphyria.
The terms porphyrin and porphyria are derived from the Greek word porphyrus, meaning purple. Urine from some porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances in the urine, and the urine may darken after exposure to light.
The symptoms and treatment vary significantly from one type of Porphyria to the next.
Porphyria symptoms arise mostly from effects on either the nervous system or the skin. Effects on the nervous system occur in the acute porphyrias (AIP, ADP, HCP and VP). Proper diagnosis is often delayed because the symptoms are nonspecific. Skin manifestations can include burning, blistering and scarring of sun-exposed areas.
The porphyrias are rare diseases. Taken together, all forms of porphyria afflict fewer than 200,000 people in the United States. Based on European studies, the prevalence of the most common porphyria, porphyria cutanea tarda (PCT), is 1 in 10,000, the most common acute porphyria, acute intermittent porphyria (AlP), is about 1 in 20,000, and the most common erythropoietic porphyria, erythropoietic protoporphyria (EPP), is estimated at 1 in 50,000 to 75,000. Congenital erythropoietic porphyria (CEP) is extremely rare with prevalence estimates of 1 in 1,000,000 or less. Only 6 cases of ALAD-deficiency porphyria (ADP) are documented.
EPP is the most common porphyria in childhood, and the one associated with the longest delays in diagnosis.
This section of our website includes basic information about symptoms, diagnosis and treatment of the eight types of Porphyria. You will also find information on diet and nutritionin porphyria and on the history of the disease.
"Remember.Research is the key to your cure!"
APF- RARE DISEASE DAY
Friday - February 28, 2014 @ 12:10:00
Caretaker Support Forum Please join we need your support
Wednesday - February 26, 2014 @ 10:30:00
Caretaker Support Forum
New APF Caretaker Support Forum
Warren Hudson, who serves on the APF Board of Directors, has agreed to head our Caretaker Support Forumfor spouses or partners who help their loved one cope with porphyria. To read more about Warrens story as a caretaker for a loved one with AIP click here.
The Caregiver Support Group strives to provide a forum to ask questions, share advice, experiences and provide a sounding board for those going through similar circumstances.
Our goal is to eventually provide multiple resources to assist caregivers in their day-to-day lives. This is your community and your input will help shape this service. Whether you are a spouse, partner, relative or friend of a porphyria patient, we want to hear from you. Contact the American Porphyria Foundation or email us at apfcaregiver@aol.com for more information.
We respectfully request that only caregivers of patients in the active process of diagnosis or with a diagnosis of a porphyria participate in this group. "Remember.Research is the key to your cure!"
Did You Know? PCT
Thursday - February 20, 2014 @ 15:49:47
Did You Know?
Porphyria cutanea tarda can be inherited as a dominant trait or acquired due to liver disease. Sun exposed areas develop blistering (vesicles and bullae), erosions and ulcerations, fragile skin, pigmentary changes, and scarring.
"Remember. Research is the key to your cure!"
*******RARE DISEASE DAY 2-28-2014*******
Thursday - February 20, 2014 @ 12:08:22
Rare Disease Day 2014
Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. The awareness-raising event coordinated by EURORDIS at the international level and by National Alliances and Patient Organizations at the national level.
"The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.
The campaign targets primarily the general public but it is also designed for patients and patient representatives, as well as politicians, public authorities, policy-makers, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.
Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, more than 1000 events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage". You can find out more: http://www.rarediseaseday.org/article/what-is-rare-disease-day
We encourage every single one of You to participate and help raise awareness about porphyria. We together are making a big difference in educating the public and medical professionals about the disease and helping each other to overcome the difficulties with a smile and enthusiasm.
Be proactive and be heard! You are welcome to attract as much media attention as possible. Ask your local newspaper or community newsletter to include a story about you and porphyria or just write an article on your experience or change your profile picture on facebook. You can be involved in any way that works with your schedule, resources, community, and interests!
"Remember. Research is the key to your cure!"
Baby Rebekah Jones and EPP
Thursday - February 20, 2014 @ 12:06:23
Rebekah Jones
Type of Porphyria:
Erythropoietic Protoporphyria (EPP)
My daughter Rebekah has Erythropoietic Protoporphyria. We live in the Grand Rapids, MI area.
Rebekah was about 13 months old when she first started having symptoms. We were staying at a summer cottage on Lake Michigan. I put sunscreen on her and we went outside to play in the sand and swim. Late that afternoon she got real fussy, and by evening she was screaming and crying. We thought she was overly tired and gave her some Motrin, but she didn't sleep at all that night.
In the morning, Rebekah's face and hands were swollen and red. We could not make out the bridge of her nose because of the swelling and she couldn't open her eyes or move her fingers. I called Rebekah's pediatrician and he wanted to see her right away. At first, her doctor thought she was having a reaction to the sunscreen I had used, so we tried another kind and went back to the beach!
Again, Rebekah started screaming and crying, and we tried everything to calm her down. After several weeks and trips to the pediatrician with no answers, we asked to be referred to a dermatologist. She took one look at Rebekah and knew-Dr. Patel had seen a case of EPP during her residency training-how lucky for us! After the blood work came back, Dr. Patel explained what EPP was, started Rebekah on Lumitene and found the American Porphyria Foundation for us to join.
Rebekah is now 10 years old and deals with her EPP very well. Usually in the spring she gets frustrated, wanting to be "normal" so she can be outside with her friends and go on school field trips. She usually helps in the school library or office instead of going outside at recess. Fortunately, the children at her school are very supportive and protective of Rebekah-the other kids even tell me when I help out at the school if Rebekah has been outside without here hat or without sun screen.
Because Rebekah didn't remember her first bout of EPP, she wanted to see if it would happen again, so we let her go out for a very short period of time. That evening the burning started, her hands and face turned red and puffy and she was in a great deal of pain. Now she understands the seriousness of her condition.
We have learned what works to protect Rebekah by trial and error. Even if the sun isn't out, rays can still come through-when sitting in the shade while going fishing, the sun reflects off the water, and in the winter it reflects off the snow-not a good thing! Riding in the car without tinted windows or sitting in the house in the sun light can also cause Rebekah's EPP to flare up.
We have shared educational material and the APF DVD with our physician and the clinical staff, and with our family. The APF has been a great resource and support for us.
Jan and Bill Jones Byron Center, MI
"Remember.Research is the key to your cure!"
EMAs review of SCENESSE extended to mid-2014
Monday - February 17, 2014 @ 11:08:19
EMAs review of SCENESSE extended to mid-2014
Melbourne, Australia and Baar, Switzerland, January 30, 2014
Clinuvel Pharmaceuticals Limited (ASX: CUV; XETRA-DAX: UR9; ADR: CLVLY) today announced that the European Medicines Agency has extended the marketing authorisation application (MAA) review period for its drug SCENESSE (afamelanotide 16mg implant) to mid-2014. Clinuvels MAA for SCENESSE is aimed at a preventative treatment of the orphan (rare) light-intolerance disorder, erythropoietic protoporphyria (EPP) in adult patients. Clinuvel filed the MAA with the Agency in February 2012.
The review of a first-in-class drug, albeit for an untested disease in which light exposure plays a dominant role, was always going to be subject of a lengthy regulatory review, Clinuvels acting Chief Scientific Officer, Dr Dennis Wright said. In this case, the Agency has requested additional time to review the clinical data of the US Phase III study in EPP (CUV039) study which was submitted last year. The evaluation clock has been stopped until June 2014. During this time the company will work with the EMA to address any further questions which may arise.
The company has much confidence in the EMAs approach to learn as much as possible about the clinical aspects of the disease and the clinical relevance of the treatment to patients, Clinuvels CEO, Dr Philippe Wolgen said. This extended review period will also allow time for EPP patients and expert physicians to share their experience with the EMA.
Clinuvel Pharmaceuticals Limited
"Remember.Research is the key to your cure!"
"If it isn't Porphyria, What is it?"
Thursday - February 13, 2014 @ 13:55:01
"If it isn't Porphyria, What is it?" This is a question we hear almost every day at the APF. Many people who think they have Porphyria, find out that they have been misdiagnosed, particularly when they were diagnosed with acute porphyrias using porphyrins for screening instead of PBG or ALA as indicated. Therefore the APF is part of a committee which helps address the needs of this group of un-diagnosed people. Recently, the NIH program for the un-diagnosed held a webinar to give guidance to this group of un-diagnosed patients. Read about this program: http://www.genome.gov/27544402 and enroll to have your condition diagnosed by a group of trained clinicians. Also if you are currently un-diagnosed with one of the Porphyrias but have a relative that has a diagnose we have a study that you may be qualify for please email me Amy.apf@gmail.com with your Name, Phone Number. I will call you back ask a few questions to see how we can help you. "Remember.Research is the key to your cure!"
Research Studies- Can you Participate!
Wednesday - February 12, 2014 @ 10:30:01
Research Studies
Below are some wonderful questions about volunteering to research studies, if your interested please email me at Amy.apf@gmail.com, look below to see all the studies that are happening now and future.
How do I learn more about current open studies?
Below you will find a list of current studies. Clicking on the link will take you to the study summary, which will provide you with all the important details for each study
How do I participate in a study?
Each study summary provides a list of hospitals or clinics where the study is being run. Using the contact information provided, you may contact any of these facilities in order to request participation in information about participating in a study.
To view all the studies going on please visit: http://rarediseasesnetwork.epi.usf.edu/
The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.
"Remember.Research is the key to your cure!"
Nutrition in non-acute Porphyria
Tuesday - February 11, 2014 @ 10:30:01
Nutrition in non-acute Porphyria
A balanced diet that provides all essential nutrients is important for everyone. Otherwise, only a few specific dietary recommendations are justified for types of porphyria other than the acute Porphyrias.
ALAD porphyria (Porphyria due to a deficiency of 8-aminolevulinic acid dehydratase). Effects of diet on this extremely rare condition have not been reported. However, because it bears some resemblance to the acute porphyrias, at least some of the same nutritional considerations may apply.
Congenital Erythropoeitic Porphyria. Diet does not appear to play a specific role in this rare condition. The excess porphyrins in this rare condition originate from the bone marrow. The heme biosynthetic pathway in the bone marrow seems to be much less sensitive than in the liver to changes in carbohydrate and energy intakes. Because patients with this condition may be severely ill, however, their diets may be inadequate. Such nutritional deficiencies should be prevented because they may contribute to anemia and other manifestations.
Porphyria Cutanea Tarda. Even though porphyrins in this condition originate from the liver, carbohydrate and energy intakes have not been described as major determinants of disease activity. However, excess iron and alcohol are clearly important. Alcohol and iron supplements should be avoided. Restriction of dietary iron is usually not necessary.
Erythropoietic Protoporphyria. Excess protoporphyrin in this condition originates primarily from the bone marrow, which as noted above is not highly sensitive to changes in energy and carbohydrate intakes. The bone marrow is sensitive to iron deficiency which, therefore, should be prevented by assuring an adequate intake of iron. Iron supplements should probably not be given unless laboratory tests for iron suggest that stores of this mineral are low.
Occasionally, the liver seems to contribute significantly to excess protoporphyrin production in Erythropoietic Protoporphyria and there can be significant liver damage. For this reason, patients with this condition may be advised to follow dietary recommendations similar to those for patients with the acute forms of Porphyria.
"Remember.Research is the key to your cure!"
Back by Popular Demand and a follow up to Yesterdays post. Nutrition in the acute porphyrias
Monday - February 10, 2014 @ 11:03:02
Back by Popular Demand and a follow up to Yesterdays post.
Nutrition in the acute porphyrias
The following are general recommendations that may not apply to all patients with acute Porphyria. Individual nutritional needs vary and are affected by the nature and severity of a disease. Therefore, a physician should be consulted and the advice of a dietitian sought before implementing dietary recommendations for a complex medical condition such as Porphyria. Other recommendations may need to be added or substituted to meet the needs of an individual patient.
These general nutritional recommendations for acute porphyrias are very similar to those for diabetes mellitus. Therefore, physicians and dietitians may find that dietary instructions given for a patient with acute Porphyria are not very different from that given for a disease they encounter much more frequently than Porphyria.
Nutritional recommendations for Acute Intermittent Porphyria, Hereditary Coproporphyriaand Variegate Porphyria emphasize a high carbohydrate intake as part of a balanced diet that provides all essential nutrients. The recommendations include an adequate intake of dietary fiber, vitamins and minerals. The goals are to prevent acute attacks of Porphyria that may be related to diet, avoid deficiencies of nutrients, and maintain a normal body weight.
The following dietary guidelines are recommended:
Energy intake should be prescribed at a level to maintain a desirable body weight.
Carbohydrate intake should be 55 to 60 percent of total energy intake.
Protein intake should follow the US RDA (Recommended Daily Allowance). This may be increased in elderly subjects, and reduced if there is kidney impairment.
Total fat intake should be less than 30 percent of total calories. In individuals with high blood cholesterol levels, saturated fat should be less than 10 percent of total energy intake, polyunsaturated fat 6 to 8 percent, and the remainder monounsaturated fat.
Cholesterol intake should be less than 300 milligrams per day.
Artificial sweeteners are acceptable.
Salt intake need not be restricted unless it is important for controlling hypertension. The management of hypertension (high blood pressure) may include salt restriction. This is not discussed here because most patients with Porphyria do not have persistent hypertension.
Intakes of vitamins and minerals should meet the RDAs.
Calcium intake in women should be at least one gram (1000 milligrams) daily.
Iron intake should be adequate to avoid iron deficiency. Women with heavy menstrual blood loss and patients who have had frequent blood drawings due to illness and hospitalization may require greater intakes of iron. (Iron is a component of heme. Iron deficiency can compromise heme synthesis and may exacerbate Porphyria. Therefore, iron deficiency should be avoided in Porphyria. Early iron deficiency occurs before there is anemia (low blood count). Early iron deficiency can be detected by tests such as serum iron and iron-binding capacity and serum ferritin.
Alcoholic beverages should be avoided. Alcohol stimulates the heme biosynthetic pathway in the liver and can itself exacerbate Porphyria. Alcohol has other harmful effects and can lead to weight gain. Some experts feel that small amounts of alcohol are not harmful in Porphyria while others feel that even small amounts should be avoided.
Fiber intake should be about 40 grams per day but should not be increased above 50 grams per day. A high-fiber diet may increase the requirements for calcium, iron and trace minerals. High dietary fiber intakes should be avoided in patients with upper gastrointestinal problems (abnormalities in the esophagus or stomach) because sometimes excess fiber can accumulate in the form of "bezoars." Increasing dietary fiber intake sometimes causes abdominal cramping, diarrhea and flatulence. These can be minimized by increasing fiber intake gradually.
Foods contain many natural chemicals that can stimulate the heme biosynthetic pathway. Although none have been definitively linked to attacks of Porphyria, the possibility that these chemicals might contribute should be kept in mind especially when attacks of Porphyria recur in the absence of a definite inciting factor. Some of the dietary factors that might have an adverse effect on Porphyria include charcoal-broiled meats (which contain chemicals similar to those found in cigarette smoke), and high intakes of protein. Probably, none of these foods need to be completely avoided in Porphyria. However, it is important to consume a well-balanced diet and not to consume any particular type of food in excess. The best way to maintain a well-balanced diet is to learn to eat a variety of foods from what are commonly referred to as the four major food groups. Detailed advice on how to do this should be sought from a dietitian.
"Remember.Research is the key to your cure!"
Eating Behavior and Porphyria
Monday - February 10, 2014 @ 10:34:41
Eating behavior and Porphyria
Sometimes patients with acute porphyria have symptoms such as profound weight loss, recurrent vomiting, and eating attitudes that suggest "eating disorders" such as anorexia nervosa or bulimia. Usually these symptoms are due to porphyria itself and do not represent a primary eating disorder. However, mild forms of eating disorders are common, especially in young women, and are difficult to recognize. Mild forms of eating disorders may have few consequences in healthy individuals. However, the effects can be profound when combined with a medical condition that is sensitive to changes in diet. For this reason, the study of eating behaviors has become important in a number of diseases such as diabetes, cystic fibrosis and inflammatory diseases of the intestine. There have been few studies so far in porphyria.
Eating behavior is assessed not only by determining the dietary intake of a subject, but also by assessing eating attitudes and habits. This is done with questionnaires that are different from those used to assess dietary intake alone. It is likely that these assessments will become increasingly useful for the management of porphyria in the future. For the present, physicians familiar with eating disorders and dietitians may be most likely to recognize abnormal eating attitudes and behaviors that may contribute to attacks of porphyria.
"Remember.Research is the key to your cure!"
Alicia Moczynski Read about her amazing journey with XLP
Wednesday - February 5, 2014 @ 11:14:28
Alicia Moczynski
My name is Alicia Moczynski and Im 22 years old. I had my first porphyria episode at age 2. However, as a child, my episodes were infrequent and mild. It wasnt until I turned about 16 that I started getting frequent episodes that got worse and worse over time. No one in my family has porphyria, and the doctors could never diagnose me. I just accepted the fact that I would never find out what is wrong with me.
Then when I turned 21 (May 2012), I had the worst episode ever. Not only were my face, hands, arms, and legs swollen, my stomach was also in a lot of pain, and I had jaundice. I went to the emergency room and received a misdiagnosis of Hepatitis A. The doctor said, Hepatitis A heals on its own, and I should just give it time. However, I never truly recovered and was bed ridden for about 3 months.
Unfortunately, during December 2012, I got very sick again with the same symptomsâ?¦severe stomach pain and jaundice. I was admitted to the University of Alabama Hospital, where I met porphyria expert, Dr. Joseph Bloomer. As some may know, Dr. Bloomer is very involved with patients who have porphyria and the research. Dr. Bloomer diagnosed me with XLP porphyria. Finally, after 21 years, I can put a name to my misery. I had a liver biopsy, and it showed that I already had some scarring in my liver. Dr. Bloomer told me I had two options: I could either wait and see what happens and possibly one day have a liver transplant (very likely in my case), or I could have a bone marrow transplant instead and be cured.
It took me a couple of months to make my decision, but I finally decided to have a bone marrow transplant. So on October 15, 2013 I received my transplant from an unrelated donor from Denmark (I have two sisters and they were unfortunately not a match). I will not lie; a bone marrow transplant is hard. I had to go through chemo, I was very weak, and I needed a caregiver 24/7. Now almost 4 months have passed. I have gained a lot of my strength back, and I feel really good. My road to recovery is still not over, but the thought of never having an episode again is really amazing. Im also very blessed to have such a great donor who was willing to help me, even though she has no idea who I am.
To show you the difference, during December 2012, I had a porphyrin level of 10,000 (I believe 80 is normal). Before the transplant, I had a porphyrin level of 600 and now I have a porphyrin level of 113. Thus far, the bone marrow transplant is working, and I highly encourage individuals with porphyria and need a transplant, to read about it and Dr.Bloomer who is famous in the field
If you would like more information about XLP, Dr. Bloomer or any of the other Porphyria types please call 1-866-apf-3635 or visit porphyriafoundation.com
"Remember.Research is the key to your cure!"
Welcome all new members to the American Porphyria Foundation Face Book Sites were so happy to have you join with us. Here are some brief facts about Porphyria.
Monday - February 3, 2014 @ 19:27:07
Welcome all new members to the American Porphyria Foundation Face Book Sites were so happy to have you join with us. Here are some brief facts about Porphyria.
Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body ofporphyrins or porphyrin precursors. Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends on the type of porphyria.
The terms porphyrin and porphyria are derived from the Greek word porphyrus, meaning purple. Urine from some porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances in the urine, and the urine may darken after exposure to light.
The symptoms and treatment vary significantly from one type of Porphyria to the next.
Porphyria symptoms arise mostly from effects on either the nervous system or the skin. Effects on the nervous system occur in the acute porphyrias (AIP, ADP, HCP and VP). Proper diagnosis is often delayed because the symptoms are nonspecific. Skin manifestations can include burning, blistering and scarring of sun-exposed areas.
The porphyrias are rare diseases. Taken together, all forms of porphyria afflict fewer than 200,000 people in the United States. Based on European studies, the prevalence of the most common porphyria, porphyria cutanea tarda (PCT), is 1 in 10,000, the most common acute porphyria, acute intermittent porphyria (AlP), is about 1 in 20,000, and the most common erythropoietic porphyria, erythropoietic protoporphyria (EPP), is estimated at 1 in 50,000 to 75,000. Congenital erythropoietic porphyria (CEP) is extremely rare with prevalence estimates of 1 in 1,000,000 or less. Only 6 cases of ALAD-deficiency porphyria (ADP) are documented.
We invite each and every one you you to become a member of the APF Foundation today by giving them a call with any questions you may have we have many research programs going on now, we have a wonderful newsletter, database of Doctors if you would like to see how you can participate in becoming a member please call Yvette @ 866-APF-3635.
If you need a comprehensive Doctor Kit please have your Doctors information handy such as name, address, and telephone number available. Please contact Yvette at 866-APF-3635
Also if you have any questions please visit us on the web at porphyriafoundation.com to get the latest information about your porphyria type, testing and current events.
We are excited to announce the New feature located on the left side of the APF Website for your convenience.
The APF maintains a list of over 2000 physicians, who are either experts or are educated about porphyria to varying degrees. The list has been created to assist porphyria patients in locating physicians in their area. Please note that the list is updated frequently, so check it often or contact the APF for additional physicians.
To use the list, first locate a city nearest you. For the doctor's name and contact information in your area, call the APF: 1.866.APF.3635.
New Orleans Marathon~Rock 'n' Roll Race Day For EPP Disease! 2/2/2014 Training buddies: Polly Barton Harvard Family & Friends.
Friday - January 24, 2014 @ 16:33:21
New Orleans Marathon~Rock 'n' Roll Race Day For EPP Disease! 2/2/2014 Training buddies: Polly Barton Harvard Family & Friends.
APF member, Polly Barton Harvard is running for EPP. Join me, Desiree Lyon Howe, in participating in her event.
Here is what Polly has to say about running the marathon and why.
I will be raising awareness for my wonderful daughter who has EPP.
I hope family and friends and others interested in porphyria will take a few minutes to donate, because it goes to the Protect the Future program to train young doctors as future porphyria experts.
Many thanks for your support and don't forget to forward this to anyone who might want to donate, too. Everyone is invited to participate in this wonderful cause. Please sign up today or contact to the American Porphyria Foundation. 866.apf.3635
My name is Amy Chapman I work along with the APF we are currently looking for patient volunteers that have Porphyria and willing to do research, if you would like to reach out to me by email its very simple and short to get you enrolled. Here is some information about it below, there is a limited time to sign up by Jan 30, 2014. We need patient volunteers of all types to join these studies below make an appointment with me today. Take 10-15 minutes and know your date of diagnosis, a few short questions and know that your sharing in a wonderful work!
Please email me Amy.apf@gmail.com!
The RDCRN Patient Contact Registry is a method by which patients with rare diseases can register themselves with the RDCRN in order to be contacted in the future about clinical research opportunities and updates on the progress of the research projects. The contact registry is anonymous and free of charge.
You (or your child) are invited to participate in a research project that will develop a nation-wide registry for patients.
How do I join?
The Contact Registry asks you for information such as your (or your child's) name, address, birth date, place of birth, email address, or items relevant to your (or your child's) disorders.
How does the Contact Registry Work?
Click on the name of your porphyria provided in the list to the right.
The Contact Registry Description and Purpose information will appear. When you are ready to join, click the "Join" button on the bottom center of your screen.
You will then be asked to read and agree to the Authorization Agreement
After you have read and agreed to the authorization, the Contact Registry form will appear on your screen.
Select one of the types of porphyrias below to join the Contact Registry for that porphyria:
Frequently Asked Questions about the RDCRN Contact Registry
What are the benefits of joining the Contact Registry?
Communication of open recruitment for clinical studies of your disease
Notice of opening of new clinical sites doing research on rare diseases
Information on activities from affiliated awareness and advocacy groups
and future opportunities to participate in research!
Who Can Join the Contact Registry?
We encourage patients from all 50 states in the United States and every country to join the Contact Registry.
Is my information kept private?
Yes. Once you have entered and submitted this information online, the data will be stored in a secure, computerized database.
No personal identifying information (such as your name, address, telephone number) will be given to anyone without your expressed approval.
"Remember..Research is the key to your cure!"
Just one of them days.
Wednesday - January 22, 2014 @ 11:50:48
Have you ever had one of these DAYS?Your not alone, please take some time for yourself, to rest, relax, enjoy a special moment or just do nothing at all, we have a wonderful family to share our thoughts and ideas know that we care for each and everyone of YOU!
"Remember..Research is the key to your cure!"
What Do Interior Designers The APF & Protect the Future Program all have in common?
Wednesday - January 22, 2014 @ 12:05:46
Do we have any interior designers who are members of the APF?
NO! We are not redecorating our office, rather, we have a wonderful opportunity to gain support for the Protect the Future Program to train future porphyria experts that involves interior designers.
Therefore, if you are an interior designer, please contact Desiree Lyon Howe at the APF: 866.APF.3535.
Since I was born with a rare, congential condition called erythropoietic porphyria, simply put I am extremely allergic to the sun, but also alongside the extremely painful epidermis affe more
Since I was born with a rare, congential condition called erythropoietic porphyria, simply put I am extremely allergic to the sun, but also alongside the extremely painful epidermis affects of my condition, my teeth grew in dark due to my body depositing of porphyrins all throughout my body. I have always wanted to have a big, beautiful, sparkly white smile. But could never afford it, so I was told about this site and I'll be honest, I hate the concept of asking for money; but, I also hate how I feel when strangers stare at me with disgust when I smile at them. So I am hoping that maybe if I have this open for long enough, my dream of finally completing my ideal version of myself will come true? Every cent means the world to me, and then some.
Thank you very much. A.P.
"Remember..Research is the key to your cure"
Mobile App! Acute Porphyrias http://porphyriadrugs.com
Thursday - January 16, 2014 @ 09:45:02
http://porphyriadrugs.com
Drug Safety
S
Very likely to be safe for prolonged use by individuals with an acute porphyria, based on consistent evidence.
PS
Probably safe for prolonged use by individuals with an acute porphyria, based on evidence that is either inconsistent or insufficient to be conclusive.
PU
Probably unsafe for prolonged use by individuals with an acute porphyria, based on evidence that is either inconsistent or insufficient to be conclusive.
U
Very likely to be unsafe for prolonged use by individuals with an acute porphyria, based on consistent evidence.
Search Tips
The same drug may appear in more than one database, so you may see repeated results and, in some cases, the drug's safety may be different. Please be careful in these cases, the decision to use such a drug or not depends on your level of confidence in the database. If a drug is not listed in any of the databases consider it unsafe.
Type any part of the generic drug name, the brand name, the drug classification or the source database.
Use double quotes (") for exact matches, e.g. "safe".
Use at least 3 letters and no spaces (unless using double quotes). Use no more than 5 for a better chance of finding it.
Search is case insensitive (using all lower case is fine).
"Remember..Research is the key to your cure"
Public service message and the story of Megan Railing with AIP
Wednesday - January 15, 2014 @ 10:19:04
Were are in need of AIP Patients with Frequent monthly attacks for a research project. To get enrolled in a study please contact me Amy.APF@gmail.com, why not explore great health options, participating in research not only benefits you but for all one day finding a cure. If you have questions please ask were here to listen and help YOU.
Enjoy this story.
Megan Railing
Type of Porphyria:
Acute Intermittent Porphyria (AIP)
Megans story is an inspirational one of a mothers love for her daughter. Denise Raillings account of Megans courageous battle to live is a moving example for us all.
Megan was a typical healthy teenager, participating in marching band, swim team, babysitting, and living a great life until the summer of her sixteenth year. For no explainable reason, she became quite ill with persistent vomiting, abdominal symptoms, bowel dysfunction and major thirty pound weight loss in six weeks.
We made multiple visits to the ER where she was given fluid and morphine and sent home with no diagnosis. She was, however, prescribed numerous psych evaluations. Later, during her senior year, she was diagnosed with a superior mesenteric artery syndrome from the massive weight loss and had TPN and tube feedings followed by surgery to relieve the duodenal obstruction from the mesenteric artery syndrome. Megan still managed to graduate with honors. On her graduation band trip to Florida, Megan became very ill. This time she developed a right lower leg neuropathy. We began to see a pattern in her symptoms: abdominal pain, persistent nausea, leg pain and neuropathy. Yet, none of the physicians agreed. When she developed complete bowel dysfunction, we were told she would need a total colectomy and ileostomy. However, a second opinion at the University of Iowa advised against surgery as Megan did not have underlying bowel function.
Megan attended the university in the fall and did well until she became ill again. Our family doctor tried to prevent the episodes, but Megan lost function in her legs and bladder. We brought her home from college and admitted her to our local hospital. After a week of tests, she was discharged with no ability to walk, no bladder function and no diagnosis. She even had to catheterize herself, a terrible problem that led to a big clue. We did note that her urine was often very dark. When I brought Megan home from the hospital, she asked me, Am I going to die. Shaken, the only answer I could give was, I dont know. That night I could not sleep, so I poured over the records we had collected over the past three years. Since there was no endocrine or metabolic evaluation, I searched for metabolic disorders that mimic Guillian Barre. Acute intermittent porphyria was in the top five choices. The more I read, the more I believed AIP was Megans problem. I left a copy of an article about porphyria on her dresser and while I was out shopping, she called me astounded at what she was reading. I then spoke with the endocrineologist at my office, and he ordered tests, which were positive. He promptly ordered Panhematin and physical therapy and within three months Megan was walking and feeling much better. She was placed on Lupron and monthly Panhematin and has done very well on that regimen. However, she had a severe attack and paralysis after surgery for a septic thrombophlebitis from a PICC line. Her recovery has been much slower this time, although she is doing well enough to stay in college.
We recently attended the Patient Education Meeting in Houston, and it was wonderful. Megan had been feeling so alone and different from everyone else. It was so important for her to attend this meeting to meet other people with porphyria and find HOPE. She realized that she can LIVE and have a full life. Her excitement on the way home was fantastic, too. As a mother, it was marvelous to hear Megan express HOPE for the first time in years.
We are so thankful for everything the foundation does to help. We want to help, too, so Megans case was presented at the internal medicine grand rounds of the residency program where I work. We were thrilled and hope this will teach doctors that porphyria is more than a word in their textbook. Next, we will meet with the director of the emergency medicine residency program to ask if they will present her case. It is ironic that their own journal of emergency medicine states that any teenage girl who presents on several occasions within a six month period of time with the same set of symptoms should be tested for porphyria.
Denise and Megan Railling
Editors note: We are very proud of Megan and hope her story has encouraged you. Just as their case has been presented at their hospital, you can ask your hospital host a porphyria awareness program.
"Remember..Research is the key to your cure"
Patient Meeting Information sign up with Yvette Today!
Saturday - January 11, 2014 @ 10:30:01
"Remember..Research is the key to your cure"
My Life with EPP as told by James Beadles
Tuesday - January 7, 2014 @ 10:30:00
James Beadles
Type of Porphyria:
Erythropoietic Protoporphyria (EPP)
I live life with EPP! I was diagnosed when I was six by a dermatologist named Carl Anderson who has since passed away. Up until my diagnosis, my parents had heard it all from a number of doctors. I was allergic to a medicine, or I was allergic to weed killer, to simply saying, "it is just a rash." All the while, I would scream in pain. My parents would help by placing cool clothes on me.
I live in sunny southern California in a beach town. All my friends were into surfing and sailing. The outdoors is part of life in SoCal. I did not let my EPP stop me from enjoying the outdoors though sometimes I paid dearly. I played baseball until high school. I learned to sail. I ran in triathlons and half-marathons. I snow skied and water-skied. I played golf. All the time I endured the funny looks and mean things said about the way I looked and had to dress. I did not let it stop me. Sure, it bothered me when I was young. It hurt. However, as I got older I saw it as other people's problem, not mine. I was living my life the best way I knew how. I was not going to let EPP stop me from enjoying life.
I had a doctor once who told my parents I should move to Seattle where it was cloudy more often. He said I should learn to play chess and ping-pongindoor sports instead of baseball and golf and sailing. My parents would hear nothing of it; they knew I was going to live my life the way I wanted to live.
I have had two liver transplants because of my EPP. The porphyrins dumped into the liver and made it cirrhotic. I had my first transplant when I was 27 years old. The liver lasted 12 years, during which I was able to continue my normal active lifestyle. I married and had two kids. Neither of my kids shows symptoms of EPP. In fact, one wants to be a lifeguard! Both of my children can run around on the beach all day without being burned, well, aside from basic sunburn. Their mother and I lather them with sunscreen when they go out to the beach or are playing soccer or swimming. The boys are six and eight and I am confident they do not have EPP.
My second transplant was more dramatic. I was 39, my liver and kidneys failed, and I went into a coma. I was transplanted three weeks later and subsequently spent the next eight months in UCLA Medical Center. I was on dialysis for six months after which by some miracle my kidneys began to work again. The transplant and hospitalization took a great toll on my body. I am no longer able to be as active as I was. I have neuropathy in my feet from the kidney failure and nerve damage from being in bed for so long. I am twenty pounds underweight and weak. I like to joke that I am a 42-year old living in a 92-year-old body. I still live with the EPP and who knows how long this liver will last. I take infusions of Panhematin to slow the progression of porphyrins into the liver (this is the hope anyway). The key is I am still living.
I still endure the looks from people, like the other parents at the soccer field when I watch my kids play. I do not care if they think it is odd someone wearing long pants, long sleeves and gloves on a 90-degree SoCal day. To me, they have a problem, not me. People do what they have to do to cope. I am not going to let EPP keep me from enjoying my life and enjoying watching my kids grow up. My kids understand that Dad has to be careful of the sun. They understand Dad is not as strong as he once was because of his surgery. They understand why Dad has to wear protective clothing in the pool; they are just happy that Dad is in the pool with them! Grown-ups should be so understanding.
I hope you enjoy my story and I am anxious to hear how others with EPP are LIVING, not just coping or suffering. Someday there will be a cure for this, and I plan on being around to see it!
"Remember..Research is the key to your cure!"
Start your health off Right!
Monday - January 6, 2014 @ 16:14:08
Start your health off right! How you may ask?
If you have not joined the below please contact me at amy.apf@gmail.com to take a few moments to register its that simple, secure and we need your help. Why is my Participation Important?
Maintaining the Relationship Between Patients and Researchers is Vital!
The Contact Registry has been created to inform patients and/or parents of patients of clinical research studies. Joining the contact registry will help researchers identify and recruit patients who are eligible for participation in future research studies.
Information contained within this registry will be used for recruitment to research studies directed at improving our knowledge and treatment of these rare diseases. The continued efforts of researchers seek to improve the quality of life for all who are suffering from these rare diseases. The work of the researchers cannot occur without the partnership with patients.
Patients who participate in research make it possible for researchers to find new treatments, create new studies, and work for the improvement of lives that are effected by rare diseases.
By joining our registry, you will be contributing to the research of the Rare Diseases Clinical Research Network.
Participation in Research Makes it Possible for Researchers to:
provide the best possible care to patients affected by rare diseases
improve methods in studying your disease
achieve deeper understanding of your disease and its causes
find new treatments
create new studies
The RDCRN has over 150 clinical sites available, and is adding more every day!
Let us keep you informed of research opportunities - Join the RDCRN Contact Registry!
Now is the time to join the many other people who are helping porphyria researchers find new treatments leading to a cure.
In most research studies, you will not be asked to take an experimental drug, rather, you will be asked to contribute your blood , DNA and/or urine and answer pertinent questions.
Please see the list and parameters below and contact Desiree at the APF if you are interested or have questions. You will be placed in direct contact with the research team:
To be eligible for the Longitudinal Study of the Porphyrias:
Must have a confirmed diagnosis of one of the porphyria
It is preferable if patients are able to come to a participating center to be clinically evaluated (through insurance if possible)
If patients cannot come to a center they can be seen by a local physician and have their records sent to a participating center along with the necessary samples (DNA, porphyria labs, etc)
To participate in the following studies the patient MUST already be in the Longitudinal Study:
Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
Mitoferrin-1 Expression in Patients with Erythropoietic Protoporphyria
Quantification of the Effects of Isoniazid Treatment in Erythrocyte and Plasma Protoporphyrin IX Concentration and Plasma Aminolevulinic Acid in Patients with Erythropoietic Protoporphyria
To participate in Clinical Diagnosis of Acute Porphyrias, there are two parts:
Part 1 is looking for 1st degree relatives of patients with confirmed DNA diagnoses of the acute porphyrias (the patients who are subsequently diagnosed with an acute porphyria through this study are then eligible to participate in the Longitudinal Study)-We are only recruiting for this part right now
Part 2 is looking for patients with mild elevations in urine porphyrins and symptoms consistent with acute porphyria but who do not have a confirmed diagnosis yet (again, patients who are subsequently diagnosed with an acute porphyria through this study are then eligible to participate in the Longitudinal Study)
**For this study, patients do not need to visit a participating center but it is preferred that they do.
To participate in Hydroxychloroquine vs. phlebotomy for porphyria cutanea tarda :
Patients must have a biochemically confirmed diagnosis of PCT, these patients are also eligible to be in the Longitudinal Study however it is not required that they be in the Longitudinal Study to be in this study
They must also be over 18 years of age and willing to take precautions to prevent pregnancy
For this study the patients need to visit a participating center
Porphyria is a well-defined group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme, a molecule needed by all of the body's organs, is found mostly in the blood, bone marrow, and liver. Heme is a component of hemoglobin, the molecule that carries oxygen in the blood [1]. The signs and symptoms of porphyria vary among the types. Some types (called cutaneous porphyrias) cause the skin to become overly sensitive to sunlight. Exposed skin may develop redness, blistering, infections, scarring, changes in pigmentation, and increased hair growth. Other types of porphyria (acute porphyrias) mostly affect the nervous system. Appearing quickly and lasting from days to weeks, acute signs and symptoms include abdominal pain, vomiting, constipation, and diarrhea. During an attack, a person may also experience muscle weakness, seizures, fever, loss of sensation, and mental changes such as anxiety and hallucinations. Two forms of porphyria have a combination of acute symptoms and symptoms that affect the skin [1]. Most forms of porphyria are inherited. In contrast, "multiple chemical sensitivity" ("MCS") is a medically disputed term used to describe people with multiple troubling symptoms they attribute to environmental factors. Many such people are seeking special accommodations, applying for disability benefits, and filing lawsuits claiming that exposure to common foods and chemicals has made them ill. Their efforts are supported by a small network of physicians who use questionable diagnostic and treatment methods. Practitioners who promote MCS as a diagnosis claim that it is caused by extremely low levels of chemical substances found in the environment. However, no scientific tests have ever been able to detect an organic basis for the diagnosis, and no major medical organization recognizes MCS as a clinical disease. Instead of testing their claims with well-designed research, its advocates promote them through publications, talk shows, support groups, lawsuits, and political maneuvering [2].
Shifting Claims
In the 1990s, partly in response to the fact that courts were not recognizing MCS as a disease, many proponent doctors began inappropriately diagnosing disorders of porphyrin metabolism in large percentages of their patients [3]. Although the porphyrias are rare, these doctors claim that many MCS patients have porphyrin abnormalities and that the same environmental substances can trigger both conditions [4]. Their strategy was laid bare in a 1996 article in Our Toxic Times which said that diagnosing one of the porphyrias was advantageous because they have a recognized diagnostic code and doctors who dont know about MCS or dont believe in it do believe in porphyria. [5] Another issue of the newsletter contained a porphyria symptom check list of about 90 possible symptoms. [6] Porphyrias do not have that many symptoms. Expert reviewers have concluded that the proposed relationships between MCS and porphyrin disorders should be considered speculative and unestablished and do not justify using any measures that are appropriate for treating porphyrias [7]. In 1995, the Washington State Department of Labor and Industries and the Washington State Medical Association issued an authoritative guide to diagnosing porphyrin disorders [8].
Flawed Laboratory Testing
Most of the purported association of porphyria with MCS is based on results obtained with the urinary coproporphyrin assay, a laboratory test performed by the Mayo Clinic. However, the test has never been validated. Although "MCS" patients reportedly showed modest increases in urinary coproporphyrin excretion, this is a common finding found in many people without symptoms and also in patients with diverse other conditions such as diabetes mellitus, heavy alcohol use, liver disease, and many kinds of anemia. In 1997, two porphyria experts at the University of Massachusetts Medical Center noted these facts and warned that the test was not reliable, had not been validated, and should not be used [9]. In 1999, two Mayo researchers concluded that 56 out of 64 of the enzyme tests performed by the Mayo laboratory should not have been ordered and that there was "substantial overordering" of other tests and "inadequate physician knowledge about the interpretation of test results in the evaluation of acute porphyria." [10] Their report did not reveal the fact that most of the inappropriate enzyme tests were ordered by William Morton, M.D. of Oregon Health Sciences University, who was the MCS-porphyria connection's leading advocate.
Court and Regulatory Actions
I know of three cases in which judges gave no credibility to a porphyrin-MCS connection. In 1991, a trial court ruled that plaintiff's immune assays, including calla and porphyrin antibody testing, performed by Dr. Bertram Carnow, were inadmissible because plaintiff failed to prove that the testing was "acceptable to at least a substantial minority of the relevant scientific community." [11] In 2001, an administrative law judge ruled against a claimant who sought compensation for alleged work-related porphyrin deficiency and relied on testimony of Dr. Morton. According to a case summary I found on the Internet:
The [Administrative Law Judge] rejected Dr. Mortons opinion because it was clear that Dr. Mortons opinion was not based upon the same level of intellectual rigor that characterizes the practice of experts in this field of medicine. Dr. Morton was outside of the medical mainstream and his analysis was non-scientific since his description of the disease and environmental causes was so broad as to be meaningless. He also had no scientific basis for rejecting known and accepted testing techniques which were objective, reproducible, and reliable in terms of locating levels of enzyme residue that would be created by this particular disease [12].
In 2004, the Oregon courts ruled against a woman in a similar case, which the appeals court summarized this way:
Throughout 1996 and 1997, after leaving her employment with Lane County, petitioner continued to see her physicians for complaints of chemical reactivity. In May 1997, Dr. Morton, a specialist in occupational medicine, diagnosed petitioner as having "active porphyrin metabolic dysfunction" (i.e., porphyria). He explained that people "with porphyria traits are abnormally susceptible to porphyrogenic substances," such as the fumes from certain types of chemicals and substances. He further explained that, "Once activated, porphyria symptoms do not always stop when the initiating exposure stops." In connection with a workers' compensation claim that petitioner filed with Lane County, petitioner was also examined by Dr. Burton, a specialist in medical toxicology and occupational medicine. In Burton's opinion, petitioner's history and symptoms were not consistent with a diagnosis of porphyria, and petitioner does not suffer from that condition. Burton also opined that the diagnosis of MCS given by one of petitioner's treating physicians was not a legitimate medical diagnosis. In Burton's view, physicians use a diagnosis of MCS to explain a variety of nonspecific symptoms otherwise not organically explainable [13]
In 2001, the Oregon Board charged Morton with inappropriately diagnosing "porphyria" with the result that patients received inappropriate treatment from him or other providers [14]. In 2002, rather than facing the charges, Morton agreed to retire his license [15]. Because Morton was by far the leading proponent of the MCS-porphyria connection, his "retirement" and judicial thrashings signaled the end to what Dr. Burton recently dubbed "the porphyria epidemic." [16] Additional Information
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ER Kit for the Acute Porphyrias
Dietary recommendations such as those listed above need to be translated into a diet plan for the individual. This is best done with the advice of a physician and the help of a dietitian. It is standard practice for a physician to prescribe a diet for an individual and for a dietitian to assist the patient in devising an individualized meal plan.
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Exposure to the sun eventually marked Darlene's symptoms unambiguously last Spring, but they started before that, with tea-colored urine, prompting her primary care physician to send her to a rheumatologist to be evaluated for possible lupus. While she was seeing the rheumatologist, her primary care physician became concerned about her gallbladder. It was in the process of getting ready to have her gallbladder removed that Darlene started getting a lot more exposure to the sun.
My wife and I live in Otaki which is a small rural community one hour north of Wellington on the North Island of New Zealand. I thought you might be interested in the story of how my wife manages Acute Intermittent Porphyria (AIP) in a country that has no specialist centre for Porphyria and consequently no specialists.
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My daughter Rebekah has Erythropoietic Protoporphyria. We live in the Grand Rapids, MI area.
The following are general recommendations that may not apply to all patients with acute Porphyria. Individual nutritional needs vary and are affected by the nature and severity of a disease. Therefore, a physician should be consulted and the advice of a dietitian sought before implementing dietary recommendations for a complex medical condition such as Porphyria. Other recommendations may need to be added or substituted to meet the needs of an individual patient.
Megan was a typical healthy teenager, participating in marching band, swim team, babysitting, and living a great life until the summer of her sixteenth year. For no explainable reason, she became quite ill with persistent vomiting, abdominal symptoms, bowel dysfunction and major thirty pound weight loss in six weeks.
