Life with Chronic Pain: A How-to Guide, What can you learn?
Wednesday - December 26, 2012 @ 20:35:21
Sue Falkner-Wood
Life with Chronic Pain: A How-to Guide
Choosing how you live with pain
Ive had a bad week. You would think that after all the years Ive lived with sacroiliac joint pain I would do a better job of managing my pain and inflammation. But there are still many times when the pain-filled days outnumber the pleasant ones.
I dont like to talk about my pain, perhaps because I am tired of hearing my own complaints. Thirty years of nursing probably adds to my dislike of complaints. I also have come to realize that complaining does very little good for me or those around me. I try to save the complaining for the big times when I just cant hold it in any longer and the tears, the bitchy spirit and inactivity are all forced upon me. And then it all passes.
But for the sake of getting to know each other, I will explain what it is like to suffer from my particular malady. It is probably more accurate to describe it as the worst of a long litany of problems that I endure. For me, the worst is the inflammation of the sacroiliac (SI) joints, which are the longest joints in the body and also the ones you sit upon.
It is difficult to put it delicately, and I gave up a long time ago trying to sidestep the issue. I have a pain in my backside. That upon which I sit hurts most of the timeâ?¦ always after sitting on a hard surface such as a chair or a bench. The pain extends down the back of my legs bilaterally and for me is distinctively identified by the feeling that I have an elephant sitting on my lap. The pressure on the pubic bone and the pelvis is severe. Thats pretty much it, with the accompanying difficulties that all sitting brings in all social situations such as dinner, travel or the movies.
I know from past experience that this painful time will eventually pass. I will do my exercises, rest, stop lifting my grandchildren, become more irate when the bag boy puts three half-gallons of milk in one bag and generally try to be good to myself. Then this strange phenomenon takes over, and I will have a gloriously wonderful day. The Columbia River, where we live, will sparkle, I will once again enjoy laughter, my husband will stop giving me that look as if my evil twin has been visiting, and my life will once again be half full.
I know I dont have enough courage to live the way I must, and I often dont know how I will do it. But you see, when it comes to this disease, I have no choice. In other ways, I have many choices. I can choose the best doctor I can find. I can choose not to talk about my problems constantly. I can choose joy over sorrow. I choose to see the climbing rose on my front porch, to savor the warmth of our Victorian home and to laugh at both of our dogs, who are natural born clowns.
I didnt choose this disease, but I can choose how I live with it. What choices are you making?
-Sue
Longitudinal Study Underway! We still need YOU!
Wednesday - December 26, 2012 @ 20:34:10
Longitudinal Study Underway The Porphyria Longitudinal Observational Research Project is underway. The objective of this protocol is to conduct a five year, multidisciplinary investigation of the natural history, morbidity, and mortality in people with porphyrias. In addition, the purpose is a long-term follow-up study of a large group of patients with the various porphyrias, which will provide a better understanding of the natural history of these disorders, as affected by available therapies, and to aid in developing new forms of treatment. You have the opportunity to be part of this important project and help advance research by answering the most important and often perplexing questions about porphyria. As part of the research, the patient volunteers will be followed longitudinally for long term survival, development of disease complications and outcomes of commonly used treatments, as well as more advanced treatments, such as liver or bone marrow transplantation. Researchers will seek to identify biochemical features (biomarkers) that may predict future symptomatic episodes so that interventions can be initiated before symptoms develop. The patients enrolled in this study will also be a source for other studies, including mechanistic investigations and clinical trials.
The questions researchers want answered include: a.) In a longitudinal cohort, what is the prevalence of specific morbid indicators of disease severity, including neurovisceral 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? b.) What are the relationships between disease severity and progression and various biomarkers-biological characteristics, such as genotypes, causative and contributing endogenous and environmental factors and levels of porphyrin precursors and porphyrins? c.) What is the safety and efficacy of currently used and new therapies for the porphyrias, especially in the long term?
Safe/UnSafe Drugs In Acute Porphyria's
Monday - December 24, 2012 @ 19:42:11
Safe/Unsafe Drugs Dr. Peter V. Tishler, who is a porphyria expert at Harvard/ Brigham and Womens Hospital in Boston, has been instrumental in overseeing and updating the APF Safe/Unsafe Drug List for acute porphyria. Dr. Tishler is kindly updating the list again and wants your input. Therefore, if you have been negatively affected by a specific drug, please contact the APF. We will then put you directly in contact with Dr. Tishler to discuss your experience. When you report a drug, please have on hand, the name of the drug, the dose, and a synopsis of what happened to you when you took the drug. As you know, the Safe/Unsafe Drug List is extremely important for people with acute porphyrias, so your input is very important. It is often a lifesaving tool for the patients and their doctors. Dr. Tishler is a clinician/researcher in human genetics, including polycystic kidney disease, chronic obstructive pulmonary disease, Fabrys disease, and the porphyrias. We are fortunate to have porphyria specialists, like Dr. Tishler, to devote himself not only to our present health needs but to help assure a healthier future for each of us. If you have any questions, please contact the APF immediately.
Winterize Your Skin~Why & How
Monday - December 24, 2012 @ 19:20:55
You put antifreeze in your car each winter to protect the engine against the cold. It's equally important to take good care of your skin and guard it against the harsh winter weather. Here are a few steps to help you protect and nurture your skin against the elements.
(1.) Don't for go the sunscreen just because it's cold and dreary outside. Stick with an SPF of at least 15 or higher you know what to use you EPP & PCT folks. And don't forget a sun blocking balm for you lips to.
(2.) Humidify the air in your house, which may be drier than usual due to the heating system. Try using a mist humidifier in your bedroom at night. They are small, to large in size quiet and if you have allergies like I do it really works.
(3.) Cut back on the long HOT showers. They might feel good while you're muscles hurt and need relief, but they can really dry out your skin. Opt for a shorter, warm shower instead. An ideal time to moisturize is after a shower. You see the skin is still damp and this moisture can be locked into the skin with a good moisturizing cream.
(4.) Use moisturizer more often. You may even need to switch to a heavier product than you use in the warmer months. Don't forget to slather is on your hands after you wash them to protect them from cracking. (I often have to use gloves to keep the moisture in overnight.)
(5.) Switch to a gentle formula soap. A deodorant or antibacterial soap can contain harsh chemicals and fragrances that may irritate your already drier skin. If you have rosacea or other skin conditions, you may need to be especially careful about protecting your skin in the winter, as the cold air can worsen the condition. (6.) Finally, if you live in a warmer climate still take all the above measures to protect your skin from the sun. When you take time for caring for your skin, the benefits will be beautiful inside and out.
Quick health Tip! Got Yogurt? Try some tonight.
Friday - December 21, 2012 @ 19:12:22
Quick health Tip!
Got Yogurt?
Your mom was right: Yogurt really is good for you. In fact, a new study confirms that it's good for your gut. According to a study in the May 9, 2012, issue of the Journal of the American Medical Association, "Consumption of probiotics (live microorganisms, which may occur naturally in foods such as yogurt, intended to confer a health benefit when consumed) is associated with a reduced risk of antibiotic-associated diarrhea, a common adverse effect of antibiotic use." Try to stick with the low-fat kinds of yogurt, and always watch the sugar content too.
Setting Goals for Success
Thursday - December 20, 2012 @ 11:28:21
Your Opinion Please!
Here's our question of the month.
How likely are you to set new goals for your health?
I'll definitely be setting new goals!
I plan to set new goals
I know I should do this, but I'm not sure if I'll do it
I don't usually set goals and so far I'm not planning to
www.porphyria foundation.com click on Submit to read more:
Setting Goals for Success
This time of year, many people start to think about the R wordResolution. While the holidays often trigger this, its important to keep in mind that positive change can and should happen any time of the year. When you follow the setting goals for success approachsmall, realistic goalsyoull give yourself the best possible chance to succeed. By achieving smaller, more attainable goals, you can build on your success step by step, adjusting your goals accordingly as you move forward with your new plan.
Why set goals at all?
This is a great question. Setting goals is basic and it helps you get a clear understanding of what you need to do. Its your road map. When people with a disease can actively set goals, they are much more likely to achieve success. Those who are successful make sure their goals are realistic for the lifestyle they lead. These goals should be something they feel they can do. Successful people avoid goals that are not clearly defined or hard to achieve.
Set SMART goals
Heres a great way to get started:
S: SPECIFIC
Define your goal narrowly (pick just 1 area you want to change, like the way you eat at breakfast)
M: MEASURABLE
Choose a frequency for the goal (how many times a day or week will you do this?)
A: ATTAINABLE
Make your goal challenging, but achievable (start with a 10-minute walk)
R: REALISTIC
Make the goal something you actually want to do (make sure it fits into your lifestyle)
T: TIME-FRAME SPECIFIC
Set short-term goals that provide immediate feedback, such as setting goals for just the next 2 weeks.
Heres a SMART goals example:
S=
I want to be more active
M=
I will walk more
A=
I will walk 10 minutes a day
R=
I will walk in the evening after dinner for 10 minutes 3 times a week
T=
I will walk 10 minutes in the evening after dinner 3 times a week for 2 weeks
Key things to think about when you set your goals
Setting goals can be hard to do alone. Thats why its a good idea to get some help from your PCP care Doctor. If your goals are too big, they will help you scale them back. As youre the one who will be setting your goals and carrying them out.
Focus on your actions instead of the end result
Achieving goals may be easier if you focus on the steps you take to make a change instead of the end result Maybe its walking the dog for an extra 15 minutes. Or it could be losing 1 pound a week by eating smaller portions of food at every meal. Whatever you do, be sure your goals are realistic and doable.
Small steps, results you will notice:
·Try keeping a to-do list when you start any new physical activity. Check the task off when youre done and reward yourself at the end of each week. Make sure rewards are something you love doing, like practicing a hobby or going to a movie. If possible, make sure rewards are not food-related!
·Write down your goals and put them where you can see them every dayon the dashboard, the bedroom mirror, the refrigerator, or on your to-do list
·Sign up for automatic refills at the pharmacy if you have trouble remembering to refill your medicines
Staying true to your goals
One of the easiest times to lose sight of your goals is during the holiday season. When youre away from home, dont be afraid to ask about the ingredients in certain dishes. Then you can decide on a smaller portion, or if you want to skip that dish altogether. Here are some things to bear in mind:
§Volunteer to bring your favorite dish that works for you, such as a cheese and veggie tray
§Take an extra walk in the morning and plan what you will eat during the day if you know that dinner will be big and festive. Use theFood Exchange Listto find substitutes ahead of time
Reach for your goals, see your confidence grow!
Remember, you are a unique person with needsonly youcan know. If there is anything about your culture, lifestyle, or beliefs that may affect your disease, be sure to share this with your Doctor. Remember as you set your SMART goals, every success you have will build your confidence. Step by step youll be able to make more changes that have a bigger impact.
Heres to your success! I cant think of a more practical way to start the New Year.
Are you a busy entrepreneur or employee who is usually on the go and doesnt have a lot of time, but still wants to make 2013 the year that you get more healthy?
Dont worry, youre not alone. Most people want to get healthy, more fitter and look younger yet they cant seem to find the time for it. In fact, I have seen advertisements on TV since the new year for at least 7 different fitness workouts by various celebrities and actresses, but I wonder how many people will actually stick to the plans when they purchase it.
Listen, if 2013 is going to be different for you, your body and your family, then its time to buckle up and find new habits that will serve you better. Dont you agree? Healthy living doesnt have to be hard, it was never created to be. But it does require a small amount of commitment and a big love for being refreshed.
Here are eight tips for healthy living on the go:
1. Enjoy a pint of water first thing in the morning.
If you havent got time for anything else in the morning, make time to drink a big glass of water. We lose a lot of oxygen through the night and to rejuvenate our cells, we need to supply them with water and oxygen. Drink a glass of water and within a week youll begin to feel less tired. I like the taste of water, but I know some people do not so if youre one of them, squeeze some fresh lime into your water to give it taste and drink up.
2. Grab a few fresh fruits on your way out.
Wherever youre going whether its a walk or drive to the supermarket or on your way to a meeting pick up one or two fruits and eat them. If you leave for work in the morning and dont return til evening, take a few fruits and eat them throughout the day. Fruits are great for their nutrients, vitamins and sugars that are required in our body.
3. Avoid going to junk food shops with your work mates.
If your work mates are going and you want to go along, go ahead but dont order the burger or french fries. Go for a nice salad instead. Or any other healthy meal that takes your fancy. Junk food is full of empty calories that do nothing for your body but put on extra unneeded and unhealthy fat.
4. Exercise on the go.
If you work in an office, get up every 30 minutes and go for a walk. If you have an office with stairs, run up and down the stairs every couple of hours. Get your blood flowing and your muscles moving.
5. Drink herbal teas.
When at work or home, many people love to get a cup of tea or coffee. Decide that youll be more healthy and get a warm cup of herbal tea. The selection available today is absolutely massive, so youre guaranteed to find one you enjoy. I like mandarin and ginseng tea as well as fennel seed tea.
6. Eat a handful of nuts.
Get your favorite selection of nuts (almonds, cashews, pecans, walnuts, etc.) and raisins and have a big handful of them at around 3pm. This has been shown to increase afternoon energy and productivity.
7. Say yes to freshly squeezed juice.
One of the biggest and most exciting changes I made in my health about 7 months ago was when I said yes to having my own freshly squeezed juice every morning. Since then, my energy, body health and vitality has increased ten-fold. I create the time to squeeze my own carrot-apple-ginger juice; however if you dont have the time, ask someone if they can make it for you in exchange for something you can help them with, or get yourself to a local juice bar and get your share of the juice!
8. Deep breathing.
When youve got time at your desk, driving the car, cooking food do some deep breathing. Inhale and count up to 5 seconds, hold it for a few seconds, and release slowly. Exchange of oxygen and carbon dioxide is one of the best things we can do for our blood and cells.
Do you have any tips for healthy living on the go? Do tell I would love to see your comments and helpful tips
News Bulletin.Please Read Over
Monday - December 17, 2012 @ 15:34:23
News Bulletin.
Lundbeck Pharmaceutical announced that they have sold Panhematin to Italian drug company, Recordati.
Italian drug maker Recordati has signed an agreement for the acquisition of all rights concerning a portfolio of products indicated for the treatment of rare and other diseases and marketed mainly in the USA, from Denmark' Lundbeck(LUND: DC). The closing of the transaction, is expected to take place in the first quarter 2013, and is subject to certain conditions.
The acquired portfolio will be marketed in the US by Recordati Rare Diseases, a wholly-owned US corporation. The main product in the portfolio is Panhematin (hemin for injection) for the amelioration of recurrent attacks of acute intermittent porphyria.
"The acquisition of this portfolio of products is a confirmation of Recordati's intention to become a leading player in rare diseases worldwide and it will reinforce Recordati's entry into the Hematology and Oncology fields (almost 50% of approved drugs for rare diseases are in this category). The acquisition of Lundbeck's products will also contribute to the growth and enhancement of our current operation in the U.S." declared Giovanni Recordati, Chairman and CEO. "We will continue in our accelerated strategy of enlarging our direct presence in the emerging markets in Central and Eastern Europe together with further investments in the field of rare diseases, with a special focus on the more developed pharmaceutical markets worldwide and, in particular, in the U.S.".
Recordati, established in 1926, is a European pharmaceutical group, listed on the Italian Stock Exchange (Reuters RECI.MI, Bloomberg REC IM, ISIN IT 0003828271), with a total staff of over 3,200, dedicated to the research, development, manufacturing and marketing of pharmaceuticals. Headquartered in Milan, Italy, Recordati has operations in the main European countries, in Central and Eastern Europe, and in Turkey. A field force of around 1,700 medical representatives promotes a wide range of innovative pharmaceuticals, both proprietary and under license, in a number of therapeutic areas including a specialized business dedicated to treatments for rare diseases. Recordati is a partner of choice for new product licenses from companies which do not have a European presence. Recordati is committed to the research and development of new drug entities within the cardiovascular and urogenital therapeutic areas and of treatments for rare diseases.
Remember. Research is the key to your cure!
Support the American Porphyria Foundation
Monday - December 17, 2012 @ 15:29:49
Support the American Porphyria Foundation
Please support the American Porphyria Foundation today. When you support the APF, you are making a contribution to an organization that provides solid medical information, hope and essential support to those affected by porphyria. You can be proud to be an integral part of the help we provide patients on the road accurate diagnosis, proper care, and hopefully someday a cure.
We welcome donations by phone, mail, fax, or online. Please call us with toll free at 1-866-APF-3635 Monday-Friday from 9:00 a.m. to 4:00 p.m. CST. We accept VISA or Mastercard. You may choose to honor a friend or loved one with your donation, or to remember someone with a memorial gift. You can give online with a major credit card via PayPal:
Would you like to share your Porphyria Story?
Thursday - December 13, 2012 @ 17:30:20
If you would like to share your story about your Porphyria please email me your story, name and type. By taking some time to think about your experience I hope that it will encourage others to cope and learn what each of us go through on a daily basis. AmyLChapman1992@gmail.com
I do have some additional wristbands 2/6.00 shipping is free and 100% go to the APF for Protect the Future Program. You can email me at AmyLChapman1992@gmail.com. I have a few Blue and purple left.
TESTING INFO Dr. Robert Desnick , head Mount Sinai Med School Genetics and Dana Doheny
Wednesday - December 12, 2012 @ 11:25:55
TESTING INFO Dr. Robert Desnick , head Mount Sinai Med School Genetics and Dana Doheny Porphyria Biochemical and DNA Testing There are two types of testing that are used in the diagnosis of Porphyria: (1) biochemical testing on urine, blood, and stool to measure the amounts specific porphyrins and porphyrin precursors and (2) DNA analysis to identify the causative mutation (or change) in a specific Porphyria gene. When an acute porphyria is suspected, the first-line of testing that is recommended is porphobilinogen (PBG) and d-aminolevulinic acid (ALA) measurements on a urine sample that has been protected from the light by wrapping in tin foil. Measurement of total porphyrins in urine can also be done to help differentiate a specific acute porphyria. The urine can be either a random sample or a 24-hour collection, with the urine collected at the time of an attack prior to any treatment, including carbohydrate loading, glucose infusions, or hemin, and analyzed at an experienced lab. When a cutaneous porphyria is suspected, the first-line of testing is fluorometric measurement of total plasma (blood) porphyrins and the red cell porphyrins. Experience is also important in interpretation of the results. Misdiagnosis has become a common problem in patients who do not have a Porphyria, but present with suggestive symptoms and have clinically insignificant small or nonspecific elevations in the biochemical tests.
DNA analysis is considered the gold standard for the diagnosis of Porphyria. It is recommended that biochemical testing be done prior to DNA analysis to determine whether a diagnosis of porphyria is likely and to suggest the specific type of porphyria. However, DNA analysis can be done without biochemical testing and can be done when a person is not symptomatic. The Mount Sinai Genetic Testing Laboratory in New York City performs DNA analysis for Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), Porphyria Cutanea Tarda (PCT) and its autosomal recessive form, Hepatoerythropoietic Porphyria (HEP), Congenital Erythropoietic Porphyria (CEP), Erythropoietic Protoporphyria (EPP), and X-Linked Protoporphyria (XLP). The Lab does not perform DNA analysis for the very rare Aminolevulinic Acid Dehydratase Deficiency Porphyria (ADP), but will perform this analysis on a research basis if results of biochemical testing are consistant with ADP. For DNA analysis of each of the porphyrias the lab does gene sequencing which means that studies are preformed to identify any change (or mutation) in the gene where disease-causing mutations occur. By sequencing genomic DNA, >97% of the known gene mutations listed in the Human Gene Mutation Database can be detected as well as most previously un-recognized mutations. In the event that a mutation is not found, it is recommended that further biochemical testing be performed if the patient becomes symptomatic and/or additional DNA analyses be considered depending on the patients symptoms, previous genetic testing, and/or results of previous biochemical tests. If a mutation is identified, it is recommended that the patient be clinically evaluated by a Porphyria specialist and that other family members be tested to determine if they have the mutation.
All porphyrias, except some forms of PCT, are genetic, meaning that they are caused by a mutation (or change) in a specific Porphyria gene. Each type of porphyria involves the deficiency of a specific enzyme in the pathway of heme formation. The exception is sporadic PCT, in which the enzyme deficiency develops during life from a combination of environmental factors (for example, iron accumulation, acquired liver disease, alcohol, and some medications including estrogen). Each of the eight enzymes in the heme pathway has its own gene, located on one of the human chromosomes. In the acute porphyrias, all people with symptoms have a mutation in one of the acute Porphyria genes, but most people who have a mutation never develop symptoms; this is referred to as latent acute porphyria. Acute attacks are often provoked by drugs such as barbiturates, sulfonamide antibiotics, anti-seizure drugs, rifampin, metoclopramide, and alcohol, reduced food intake, often in an effort to lose weight, infections, surgery, stressful situations, and, in some women, after ovulation and during the last part of the menstrual cycle when progesterone levels are high.
FDA Honors APF Executive Director, Desiree Lyon Howe
Tuesday - December 11, 2012 @ 21:12:31
FDA Honors APF Executive Director, Desiree Lyon Howe
Our very own APF Executive Director receives a great honor..
January 4, 2013 will mark the 30th Anniversary of the enactment of theOrphan Drug Act. In recognition of this important legislation and accomplishments of members of the rare disease community in their efforts to support and develop treatments for individuals with rare diseases, the Federal Drug Administration plans to highlight 30 Heroes who have made clinical, research, advocacy and regulatory contributions over these many years.
The Office of Orphan Products Development (OOPD) plans to showcase the 30 Heroes on January 7, 2013 during a program that includes invited presenters such as Commissioner Hamburg; Frances Collins, Director, NIH;Representatives Henry Waxman and Orrin Hatch, or their designees; Peter Saltonstall, CEO, NORD; and Abbey Meyers, as well as former and current OOPD staff.
One of these Heroes is Desiree Lyon Howe, Co-Founder and Executive Director of the American Porphyria Foundation, who spoke in front of Congress to support the Orphan Drug Act and helped bring Panhematin to the forefront of the first Orphan drug. Panhematin was the first orphan designated drug to receive marketing approval in 1983. It is used to relieve recurrent attacks of acute intermittent porphyria (AIP) and other acute porphyrias. In acute porphyrias, an important part of hemoglobin called heme is not made properly, causing varying symptoms with the most common being severe abdominal pain. Desiree was 17 years old when she had her first attack and suffered many years undiagnosed. In 1982 she was given experimental hemin at the National Institutes of Health, tremendously improving her quality of life. She continues to be an active rare disease advocate today.
Congratulations to Desiree Lyon Howe, and thank you to all of you who have volunteered for the ongoing porphyria studies. Each and every participant is helping us all get closer to better treatment, and a cure for Porphyria.
Remember. Research is the key to your cure!
Vickie Gehm, daughter of Judy Coley (PCT) Story
Monday - December 10, 2012 @ 12:01:22
Vickie Gehm, daughter of Judy Coley
Type of Porphyria:
Porphyria Cutanea Tarda (PCT)
I was almost 16 when my mother passed away from porphyria in 1982. She was technically diagnosed with PCT. At one point, my mother was on the court of our town's 100th year celebration and she looked absolutely beautiful. This was before I was born and she seemed extremely happy and radiant! From what I remember, my mother always had something wrong, but local doctors were diagnosing her incorrectly and really weren't sure what was going on with her. Finally, someone sent her to Mayo Clinic and they gave a name to her symptoms. They seemed to do everything that they could for her at the time. I was an only child and this was difficult to figure out and understand, but looking back, I think I now appreciate my mother more than ever. She always wore clothing that would have her blend more into the crowd instead of something that would draw attention to her appearance, She also kept her hair short due to the sores in her scalp. She couldn't perm her hair anymore or wear make-up. This had to make her feel like she was all alone at times, like no one knew what she was suffering. She used to be on a bowling team and was Bowler of the Year. She would actually travel a bit to be in tournaments. That, too, had to go when her hands started to crack more and more. However, my mother was so supportive of me. Wearing long sleeves and a large hat, she would still coach my softball team or shoot hoops with me. She would help her father in the field by driving a tractorstill wearing her long sleeves and hatno matter the temperature. The elderly ladies across the block would need help and she was the first one there to help them. Her nephew didn't really have stable parents at the time, so she was right there making sure he was cared for well. I know many healthy parents that wouldn't give that much of themselves while asking absolutely nothing in return! My experience was as the daughter.the typical teenage daughter. I would help around the house, but generally after having to be told many times. I was wrapped up in my life and everything that went with growing up. I knew my mother had to go to the hospital from time to time and that I needed to stay with my grandparents when that happened. I knew that my father would be stressed at times and assumed that every family had similar issues. I was rather immature. in my opinion. I was a kind person, a good student, and involved with many activities, and I knew that this made my mother proud. Looking back, I guess that this is how I thought I could help her. I wish I could have been more of a friend to her and had been an outlet for her to share her fears and concerns. She wouldn't have had it that way though. She was very protective of both my father and me. Looking back, I would give anything to be able to tell my mother how proud I was of her. She handled her disease with as much grace and dignity as anyone possibly could. It didn't stop who she was on the inside or her desire to help others. I now teach, have been married for 21 years, and have 2 incredible sons. While I make mistakes from time to time, I believe I have grown into a person who still wants to make her mother proud. I want to be like her. Her strength that she taught me while she was here has driven and helped me to get past many hard times in my life, including the loss of many family members, the hardest of which was losing my father in 2009. Neither of my two sons have shown any symptoms of PCT and our doctor is aware of this disease in the family. I have been tested twice and everything has come back fine. However, I don't know what the future brings, so that is why I am so thankful that there is such a great support system out there with the American Porphyria Foundation. When my mother was diagnosed, there was no one for her to talk to and that had to be frustrating. I understand and appreciate my mother more and more every day. I also know how pleased she would be to know that there are caring people out there who are helping others with this disease. What was her story? She was a giver and a survivor while she was here. My mother, Judy (Chambers) Coley, passed away on July 11, 1982 at the age of 40. Her lessons and love that she taught are still going strong and will continue through my sons and all who knew her. I applaud those that reach out to others and still live life because they can! Sincerely, Vickie (Coley) Gehm Thankful daughter of John and Judy Coley
Can positive thinking make you well?
Saturday - December 8, 2012 @ 16:00:54
Can positive thinking make you well?
By Deepak Chopra, Special to CNN
updated 6:10 PM EST, Mon December 5, 2011
There is much to be gained and no risks involved in trying to reach the best state of mind possible, the author says.
STORY HIGHLIGHTS
Studies show contradicting data on whether positive thinking can aid health
Deepak Chopra: Placebo effect proves thinking is medicine and can be helpful if done properly
The real point isn't to rescue a dying patient but to maintain wellness, Chopra says
Editor's note: Deepak Chopra is a mind-body expert who specializes in integrating the healing arts of the East with the best in modern Western medicine. He is the founder of the Chopra Foundation, a senior scientist for the Gallup Organization and a best-selling author. Learn more at www.deepakchopra.com.
(CNN) -- Observers may have noticed recently that mainstream medicine is taking a harder line against positive thinking.
Surveys of the leading research in the field conclude that recovery rates from cancer, for example, are not higher among patients who take a positive attitude about fighting their disease. Studies that show the reverse have been small and, according to their critics, flawed in serious ways.
Anyone would be forgiven for throwing up their hands. This seems like another example of dueling data, where one study's findings are contradicted by the next study, leaving the public in a state of confusion.
Doctors are confused, too. It has always been part of a doctor's kit bag to tell patients to keep their spirits up. Until a few decades ago, it was standard not to acquaint a dying patient with the gravity of his condition, which implies an unspoken agreement that hearing bad news isn't good for patients.
At the same time, doctors want to protect their profession, so few want to cross the line and support the notion that how you think can work as powerfully as "real" medicine.
Let's see if some of this confusion can be cleared up.
Deepak Chopra says there can be no denying that the mind-body connection is powerful.
First of all, thinking is "real" medicine, as proven by the placebo effect. When given a sugar pill in place of a prescription drug, an average of 30% of subjects will show a positive response. What causes this response isn't a physical substance but the activity of the mind-body connection. Expectations are powerful. If you think you've been given a drug that will make you better, often that is enough to make you better.
This implies that a person should be able to trigger the placebo effect on himself. However, there is a psychological illusion involved. Take away the authority figure in a white coat to tell you that you are taking an effective drug, and suddenly the sugar pill is just a sugar pill. You can't fool yourself when you know what the placebo is.
This can't be the whole story, however. We can't deny that the mind-body connection is powerful. So is there a placebo effect that doesn't involve fooling the patient? Can you trigger your own inner defenses by the way you think?
Those who believe in positive thinking say yes. I believe the situation is more nuanced. On the plus side, the studies that debunk positive thinking deal with very sick patients struggling to recover from major diseases. They do not comment on how positive thinking might prevent disease or how it might affect someone in the very early stages of illness.
The real point isn't to rescue a dying patient but to maintain wellness.
Does positive thinking keep you well? Right now the camps are divided, because with the rise of genetics, many disorders clearly have triggers that originate in our genes.
In the public's mind, being told that cancer or diabetes is genetic acts as final authority. Luckily for the positive-thinking camp, this fatalistic attitude is mistaken. Genes are dynamic, not fixed; they respond to a person's environment, behavior and attitudes. Indeed, a now-famous study in Sweden showed that a tendency to diabetes may be strongly affected by the diet your great-grandfather ate. A whole new field is studying how much choice we have at the genetic level.
The findings are not complete by any means, yet there is no harm in assuming that your mind affects your genes, because there is abundant evidence to support this attitude.
Medicine hasn't proven that positivity is good prevention, but let's go a step further. To me, the problem with positive thinking is the thinking part. It takes effort to be positive all the time. The mind has to defend itself from negativity, and that is exhausting as well as unrealistic. You may succeed in calming the appearance you present to the world, but there's almost always a struggle hidden just below the surface; at the very least there is a good deal of denial. Being fanatically positive is still fanaticism.
The alternative to thinking is a calm mind that is at peace with itself. I believe that such a mind delivers the benefits that positive thinking cannot, and my view is supported by studies showing a decline in high blood pressure, stress levels and other disease states among long-term meditators.
Meditation is a spiritual practice, but it's also a mind-body practice. Here the results are not final, either, in part because almost the only research subjects tend to be Buddhist monks. We need expanded studies based on Western subjects; that much is clear.
The upshot is that medicine cannot be definitive on how mood affects wellness. But if I wanted to enhance a state of wellness before symptoms of illness appeared, there is much to be gained and no risks involved in trying to reach the best state of mind possible.
Wash Hands to Stay Healthy
Friday - December 7, 2012 @ 13:42:18
Most of us know to wash our hands before eating or after handling garbage, but are you washing the correct way? What about those not-so-obvious places where germs can hide? Here are some things to remember when it comes to washing hands and avoiding bacteria. According to the Centers for Disease Control and Prevention, one of the most important steps in stopping the spread of disease is washing hands with soap and clean running water. To properly wash hands, wet them first and apply soap. Lather the soap by scrubbing palms, the backs of hands and under fingernails. Rinse well and dry thoroughly.
Soap and running water aren't always available, so carry antibacterial gel as a backup. It doesn't kill all germs, however, so don't use it exclusively. The CDC recommends using a gel with at least 60 percent alcohol. When using antibacterial gel, rub hands together to spread the gel over palms and fingers until skin is dry.
Did you know that Cold and Flu viruses can survive on hard surfaces for up to 18 hours. To reduce the amount of germs you come into contact with in public, hand-sanitizing wipes are a good option. Use them to clean shopping cart handles, door knobs, elevator buttons and restaurants and counter-tops. All ranked high on the list of places where bacteria reside.
Wash Your Hands
Keeping hands clean is one of the best ways to prevent the spread of infection and illness.
Handwashing is easy to do and it's one of the most effective ways to prevent the spread of many types of infection and illness in all settingsfrom your home and workplace to child care facilities and hospitals. Clean hands can stop germs from spreading from one person to another and throughout an entire community.
Learn more about when and how to wash your hands.
When should you wash your hands?
Before, during, and after preparing food
Before eating food
Before and after caring for someone who is sick
Before and after treating a cut or wound
After using the toilet
After changing diapers or cleaning up a child who has used the toilet
After blowing your nose, coughing, or sneezing
After touching an animal, animal feed, or animal waste
After touching garbage
Life Quotes & What they mean to you.
Wednesday - December 5, 2012 @ 18:06:10
Life Quotes
If you understand everything, you must be misinformed.
People only treat you one way, thats the way you allow them.
Never regret something that once made you smile.
Everything is going to be alright! Maybe not today, but eventually.
Work diligently, Live simply, Think quickly, Fight fairly, Give generously, Laugh loudly, Pray faithfully, Love deeply.
Things do not change. We change. ~Henry David Thoreau
Life is what happens to you while you are busy making other plans. ~John Lennon
Personality is to a man what perfume is to a flower. ~Charles M. Schwab
When everything seems to be going against you, remember that the airplane takes off against the wind, not with it. -H. Ford
What oxygen is to the lungs, such is hope to the meaning of life. ~Emil Brunner
Knowledge speaks, but wisdom listens. -Jimi Hendrix
Mother Teresa: Not All of us can do great things, but we can do small things with great love.
Never let your past experiences harm your future. Your past cant be altered and your future doesnt deserve the punishment.
Maya Angelou: If you find it in your heart to care for somebody else, you will have succeeded.
The purpose of our LIVES is to be happy. ~ Dalai Lama
The future depends on what you do today. ~ Mahatma Gandhi
To forgive is to set a prisoner free and discover that the prisoner was you. ~Lewis B. Smedes
Oprah: Doing the best at this moment puts you in the best place for the next moment.
Write your injuries in dust, your benefits in marble. -Benjamin Franklin
life isnt about waiting for the storm to pass, its about learning how to dance in the rain.
If you judge people, you have no time to love them. Mother Teresa
Important Research Request.
Tuesday - December 4, 2012 @ 14:23:44
Important Research Request.
The following is a request from The Porphyrias Consortium:
PORPHYRIA SPECIALIST MEMBERS: Drs. Karl Anderson, Montgomery Bissell, Joseph Bloomer, Herbert Bonkovsky, Robert Desnick, John Phillips.
Thank you for your interest in the Contact Registry of the Porphyrias Consortium, which is part of the Rare Diseases Clinical Research Network supported by the National Institutes of Health. The Contact Registry is important in helping us learn more about the porphyrias.
_____________
New Survey Now Available.
We are proud to announce a new feature for the Porphyrias Contact Registry. There is an additional survey available which will allow you to enter additional information about your medical history. The additional survey will take approximately 5-10 minutes to complete and will help us understand more about your specific porphyria. You may also update information you previously entered. All information will be kept confidential.
From: Dr. Robert Desnick, Principal Investigator Dean for Genetic and Genomic Medicine Professor and Chairman Emeritus Genetics and Genomic Sciences Thank you for your interest in the Contact Registry of the Porphyrias Consortium, which is part of the Rare Diseases Clinical Research Network supported by the National Institutes of Health. The Contact Registry is important in helping us learn more about the porphyrias.
New Survey Available We are proud to announce a new feature for the Porphyrias Contact Registry. There is an additional survey available which will allow you to enter additional information about your medical history. The additional survey will take approximately 5-10 minutes to complete and will help us understand more about your specific porphyria. You may also update information you previously entered. All information will be kept confidential.
To enable this feature, please log in to your account through the link provided below. You will be asked to sign a new consent form and then you will be able to update your contact information.
If you have questions on how to long in or join the Regitry, please contact Denise Shereff, MLIS, AHIP Contact Registry Administrator RDCRN Data Management and Coordinating Center University of South Florida College of Medicine Email: Denise.Shereff@epi.usf.edu
Book News! Show your support and read a great book.
Tuesday - November 27, 2012 @ 23:48:25
BULLETIN.
APF Patient Meeting In Atlanta Is Fast Approaching!
Daughter of a Man who lived with CEP writes a book about her father to bring awareness to Porphyria.
Monica Bennett Firchow has written a book about her father , Gene Bennett, who had CEP. It is a fascinating story of a man who lived life to the fullest despite the tragic impairment from CEP. Disregarding Gene's severe photosensitivity and subsequent devastating skin damage, Gene was a rancher, pilot, sports and dog show photographer, parishioner, not to mention a wonderful friend, husband and father. He was a man to be admired. You can help Monica get attention for her book by visiting her website and reading about Gene @ http://genebennett.net, and clicking the "like" button at the top of the website. Please show your encouragement and support by visiting "What Happened To Mr. Bennett?" fb page by clicking here. Be sure to click the "like" button at the top of the page. Your comments will be sincerely appreciated and are also needed to show the editor that people are interested in the porphyrias.
A glimpse into a Doctors efforts to help someone with a Rare Disease
Monday - November 26, 2012 @ 19:18:25
We would like you to read about Dr. Jeremy Latimer and his experience so far with medical schooling and his personal challenge in helping a patient get tested for Porphyria and to find them to help them. I would like to first of by stating we appreciate your time and efforts to help support patients with rare diseases. Here is Dr. Latimer's background.
As for my background. I am a 35 year old resident in Internal Medicine at Florida State University/Tallahassee Memorial Hospital. I became interested in the Porphyria a little over a year ago when one of my patients displayed all of the classic signs of acute intermittent porphyria. I decided to seek out patients with Porphyria on Facebook, to learn more about the disease and to answer questions in regards to patients' experiences that can't be found in textbooks. Unfortunately, by the time I had become convinced that my patient may have AIP, he had checked out of the hospital AMA due to frustration. It seems to be a common theme with many porphyria patients, and one of the reasons I feel it is important to remain involved with the people I met through Facebook. Many porphyria patients feel alienated from the medical community, and it is my hope that in time, this perception can be absolved. As for my patient, I've tried to locate the him nearly every way I can think of, and he is nowhere to be found. It appears that he may have been an undocumented immigrant, so I just pray that he finds the help he needs someday. I left educational packets that I obtained from the APF in emergency rooms of several hospitals near the area that I worked at, with a letter asking physicians to keep a look out for him, so that if he indeed does have an acute porphyria, he can receive the care that he needs. As for my background. I began my career in medicine somewhat late in life. After beginning college as a piano performance major, I switched to psychology at the University of Florida. During my senior year of college, I began volunteering at Shands hospital for one of the classes I was taking, and also took part in research for neuroscience at the UF McKnight Brain Institute. I fell in love with working with patients, and decided to start a new career path the last semester of my senior year of college. Before returning to UF to complete all of the pre-requisite coursework that I would need for medical school, I spent a year teaching earth space science in Jacksonville Florida, and then started graduate school in genetics at the University of Florida. In graduate school, I made the decision to take all of the pre-medical coursework alongside the coursework needed to obtain a masters in genetics. Halfway through my graduate program however, I made the tough decision not to finish my masters and apply to school in the US as I had originally planned. Rather, after completing all of the pre-requisite course work for medical school, I switched gears and left my graduate program to begin medical school at Ross University in the Caribbean. I immediately fell in love with the academic side of medicine and found the challenge to be everything that I had hoped that it would be. I spent two years studying in Dominica, and then completed my last two years of medical school rotating in various hospitals in Chicago. I then applied for residency in Internal Medicine with the intent of pursuing a career in critical care medicine. I completed medical school in the early spring of 2012, and before beginning my residency at FSU later that summer, I took a faculty position back at Ross University in Dominica for one semester, teaching clinical skills and biochemistry to first and second semester medical students at Ross. My hope is to complete my residency at FSU, and undertake a fellowship at an academic medical center where meaningful research for the porphyrias is being conducted. I would like to contribute to the academic literature surrounding the many questions that we still have about this group of diseases, with the hope that one day, we will find a way to ease, or even cure, the damage that it causes to the human body. My hope is that one day, porphyria patients can lead the normal, pain-free lives that I believe everyone is entitled to have.
Thank you so very much for all of your fine efforts to help people who may have a rare disease such as porphyria. I can speak from experience that waiting and hoping for proper testing, diagnosis, treatment, having proper knowledge of Porphyria for self and finding a willing Doctor to think outside the box and do what is best for the patient.
Picture is Desiree Lyons and Jeremy Latimer
Extremly Important~ National Porphyria Registry
Monday - November 19, 2012 @ 12:08:57
Your participation in the national Porphyria Registry is EXTREMELY Important to Porphyria research. The Registry is NOT the same thing as joining the APF, instead, it is a site which goes directly to the Porphyria Consortium of experts. We NEED Your participation! We are in need of Acute Porphyria Patients to join. So if you have Acute Porphyria please visit www.porphyriafoundation.com and click on Porphyria Registry and follow the instructions, it takes but just a few moments of your time. Once you register you will be contacted by phone or email to answer additional questions to verify your participation in the studies. Participation in research does not mean you have to take any experimental drugs, rather you can answer questions about porphyria. These research projects are critical to your care now but in the future for family members or someone you know. These projects also determine the incidence of porphyria in the US. So now it's up to you! Will you do your part it does not cost you anything. We know your busy every day and we hope that you will participate before it is to late. Remember RESEARCH & YOUR HELP is the KEY!
Important We NEED YOU!
Tuesday - November 27, 2012 @ 23:52:00
The Porphyria Research Consortium met in Boston last week. They are involved in much research for every type of porphyria. In addition, they told me that they really need more patients to register on the registry (this is a means for us to tell the govt that we need research funds) and to answer the research questions. There is a second set of questions posted, too, that they need everyone registered to answer as part of the long study 5 years.
* Opportunity to Participate in a Q & A Session with a Porphyria Expert
* Meet other Porphyria Friends Who Share Your Experiences
* View the Latest APF Educational Materials
RSVP to Yvette, porphyrus@aol.com or Call the APF Office 1.866.APF.3635
Seating is Limited
VOLUNTEERS NEEDED
For the APF Exhibit Booth
At the "American Society of Hematology" Convention - ASH
Georgia World Congress Center, Atlanta, Georgia
December 8 - 11, 2012
As a volunteer, you will distribute medical information to the 8,000 doctors and other health professionals who attend this prestigious convention. This is a wonderful opportunity for APF members in the Atlanta area to support the need to educate physicians about porphyria. Together we can enhance awareness and education of the porphyrias.
If you would like to be a part of this exciting opportunity, please E-mail Yvette,porphyrus@aol.com or call the APF, 713.266.9617.
The Boston meeting was a wonderful opportunity to help people who wanted to understand porphyria better and to help them with their own cases, as well as for those who wanted to gain a correct diagnosis.
The meeting, hosted by the APF and Dr. Peter Tishler, was held in the Shapiro board room of the Brigham and womens hospital in Boston. After everyone introduced themselves, Dr. Tishler, who is a porphyria expert/genetics at Harvard, gave a presentation about the porphyria and then opened the floor to the attendees to discuss their cases and ask pertinent questions that we hear very often. For example, people everywhere have trouble finding primary care physicians and emergency rooms doctors who are knowledgeable about the porphyrias. Treatment and diagnosis questions also abounded. Dr. Tishler gave the attendee excellent suggestions for each of their situations, as well as clarified much misinformation about diagnosis and treatment. The PBG urine test for the acute porphyrias was discussed a great deal because physicians often order "porphyrins" instead of PBG as first line tests for acute porphyrias. He also reviewed the second line blood and stool tests to determine the type of porphyria.
Dr. Herbert Bonkovsky, porphyria expert from the Carolinas Medical Systems in Charlotte, NC, also made a presentation about the many research projects of the Porphyria Research consortium, as well as helped answer the many questions from patients and their families. He also updated the attendees on the need to join the Porphyria National Registry and the Longitudinal Study by going to the National Registry section on the APF website www/porphyriafoundation.com , as well as the EPP Phase III trials. Desiree attended the meeting, too, and offered the questions she hears from patients aside from those involving diagnosis and treatment. Namely, patients asked about why heme arginate/Normosang has not come to the USA yet and what prevented FDA approval in the USA. Dr. Bonkovky explained that the blood bank in Finland where heme arginate is manufactured would not allow an FDA inspection and did not have the stringent FDA requirements in the US manufacturing plants for biologics, like heme arginate and Panhematin. This blood bank issue prevented the FDA from approving heme arginate entry despite the lengthy attempts of Dr. Bonkovsky, Dr. Anderson and Desiree
Another issue discussed is women being prescribed hysterectomies to stop menstrual related attacks. The doctors suggested having the primary care physician speak with
An expert before performing this surgery. In addition, Desiree mentioned that many patients wanted to know about the safe and unsafe drug list and how to print and access it and how to get physicians to pay attention to the list and data on the website, like the PCP and ER Guidelines. She suggested that her foremost suggestions were to develop an excellent relationship with a local physician. Once that relationship is solid, the doctors are more likely to consult with experts and read the materials developed by doctors. Understanding that this is not always possible and that some doctors do not know about porphyria and are not interested in caring for these complex cases, she asked the attendees to contact the apf for help locating the APF for help. The APF has a list of treating physician around the country They are not experts but are willing to take a patient and work together.
Another topic of topic of interest was genetics of porphyria. Dr. Tishler gave an overview of the genetics of each of the porphyrias and an explanation of why porphyria occurs and what happens with each porphyria. Dr. Bonkovsky added information about the DNA tests performed at Mount Sinai in NYC.
The APF will be facilitating more of these patient meetings. The next one will be in Atlanta, Saturday Dec 8, 2012 from 10 AM till 12. Location to be announced. Please RSVP to the APF ASAP porphyrus@ol.com
The APF has been working with a rare disease coalition to assure patients of their rights to view their test results. below is our position Our position.
Wednesday - November 7, 2012 @ 10:54:32
The APF has been working with a rare disease coalition to assure patients of their rights to view their test results. below is our position Our position. We fully support the proposed Rule. Our reasons include:
â?¢ First and foremost, granting patients direct and timely access to test results will improve clinical care and patient outcomes. Patients can respond faster and more appropriately when they learn their test results quickly. For example, it is not unusual that the appropriate response to a particular lab result is to make an appointment with a relevant specialist or take other actions. But difficulties in reaching the ordering doctor may unnecessarily delay appropriate next steps, as well as create unnecessary stress during the phone tag period.
â?¢ Even worse, some patients are being harmed by never learning of their lab results. Approximately 7% of clinically significant test results tests that would have a potential impact on clinical care are never reported to patients, potentially delayi or preventing important treatment decisions and causing harm. 5 Giving patients direct access to their results would help reduce the number of test results lost entirely.
â?¢ We do not think that patients direct receipt of their own lab results will cause them to suffer undue emotional harm, particularly since a provider can communicate promptly to provide context and interpreta tion. Some health systems have, in fact, found the opposite to be true; Kaiser Permanente has shown that delivering lab results online directly to patients in a timely fashion improves provider/patient relationships. 6 In fact, even the availability of clinical notes written by ones physician has been recently shown to have minimal negative effects and significant positive outcomes. The results from three different health systems showed that patients accessed notes frequently, a large majority reported clinically relevant benefits and minimal concerns, and doctors reported a negligible increase in workload. No doctors elected to stop sharing their notes with patients and 99% of patients wanted the practice to continue. 7 â?¢ A common reason for requesting ones lab results is often, somewhat ironically, so that they can be handed directly to a specialist or a new provider, especially when the circumstances are urgent. Patients can only deliver what they possess. If patients routinely access and save their lab results, theyll be available quickly in emergencies. As stated recently by Lygeia Ricciardi, acting director of the Office of the National Coordinators Office of Consumer eHealth, We want people to think about being empowered with information before that crisis hits. 8 â?¢ The clinical consequences of timely, direct access to ones health information are significant. Todd Park, the federal Chief Technology Officer, recently explained, When patients have timely access to their records, they can spot errors and omissions, which improves treatment outcomes and helps them avoid unnecessary procedures. Getting access to your own data isnt an abstract thing. It can literally make the difference between life and death. 9 â?¢ The proposed Rule would help save money for our overburdened health care system. When patients cannot easily obtain and save copies of lab results and procedures, and thus cannot quickly share them with other providers, expensive tests and procedures often must be unnecessarily repeated.
APF Meeting in Atlanta. Can you help?
Monday - November 5, 2012 @ 17:22:43
APF Patient Meeting , Saturday, December 8, 10 am to Noon.
The Exact location in Atlanta to be announced shortly.
Porphyria expert and researcher, Dr. John Phillips, from the University of Utah Porphyria Center will be speaking and answering questions. More information to come.
Circle the date and RSVP to the APF office. 713.266.9617.
We also need volunteers to help with the exhibit booth at the American Society of Hematology convention in Atlanta, December 8-11. You will be distributing medical information to physicians and other health professionals.
This is a great opportunity to help educate doctors about Porphyria on a grand scale.
Your help is needed!
"Remember..Research is the key to your cure!"
Dan Yelen's Paintball Explosion! Thank You for your support!
This past Sunday was possibly the roughest day ever for me to keep my composure. I couldnt tell you how close I was to crying through out the day. I have never dealt before with the amounts of kindness shown to me, my mother, or the American Porphyria foundation. Multiple people went out of their way to help support those with Porphyria. This includes not just the players, but the events field host, and our donating sponsors as well.
Thank you, Tj Smash Andres and his awesome field, Paintball Explosion for hosting our benefit game. Without you this would have never happened. Also, thank you for donating your items that each included free admission passes for your field. Also, thank you to the Saints Pbteam for helping me advertise the event, as well as my team mates Chicago Heretics
Thank you to Valken Sports and Nicole Smith-Kinner, Matt Osborn and Aurora Oil & Lube, Punishers Paintball, LAPCO Los Angeles Paintball Company., The Chicago Hist
ory Museum, and Zach Fusco for all supporting our event and helping us run it smoothly, and for donating items to the raffle.
Thank you to our wonderful guests who played this sunday and also to those who also participated in our raffle. Together you raised over $850 dollars through the raffle alone. I have to yet currently go over how much we raised in whole, after the entry fee's other contributions, but the fact remains that you all contributed to a foundation that appreciates all your kindness and will not forget that.
Paintball Explosion has already told me they would gladly host this event again, so I have already began thinking about how to make this bigger and better next year!
Once again, thank you, everyone for all your kindness, donations, and help in making November 4th a success. You all, moved me, and I will never forget that.
So if you think you would like to Donate, make Up an Event, Raise Money for the APF!
Please contact them at 1-866-APF-3635
Thank YOU EVERYONE!
Time Change Fall Back!
Thursday - November 1, 2012 @ 17:17:34
Please don't forget to FALL BACK 1 Hour this Sat. PM
Change your phones, clocks and alarms.
Read about Darlene Folkes & PCT
Tuesday - October 30, 2012 @ 19:16:37
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 reinjure 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 newfound sympathy for others will no longer have to be accompanied by her own suffering!
Highlights from the U.S. Conference on Rare Diseases and Orphan Products
Saturday - October 27, 2012 @ 11:24:44
Highlights from the U.S. Conference on Rare Diseases and Orphan Products
Role of Academic Centers, Looming Investment Crisis and More.
Jonathan Leff, MBA, Managing Director, Warburg Pincus, spoke in a special session on "Facing the Crisis in Biomedical Innovation: A Venture Investor's Perspective" on Day 2 of the conference.
Duke University Professor of Pediatrics Priya Kishnani, MD, told a standing-room-only audience the intensely moving story of the development of a treatment for infants and children with Pompe disease. She focused on collaboration among academic researchers, industry and patient advocacy groups, describing the roles of Duke and Genzyme in developing an enzyme replacement therapy.
Lisa Coles, PhD, of the University of Minnesota's Center for Orphan Drug Research, described the expanding role of academic centers in drug discovery and development for rare disease R & D. She presented strategies related to discovery of new chemical entities and drug repurposing.
FDA representatives and patient advocates discussed the changing role of patients at FDA and the agency's increased emphasis on interaction with patients.
On the Research/Regulatory track, sessions focused on endpoint development and post-marketing period opportunities for continue learning, among other things.
The APF is active in the Rare Disease Community.
"Remember.Research is the key to your cure!"
Important upcoming Events Get involved!
Thursday - October 25, 2012 @ 11:31:31
Important upcoming Events
Get involved!
A Charity Paintball Game to benefit the
American Porphyria Foundation
November 4, 2012 9:00 am. @ Paintball Explosion Park
APF Exhibit at the American Society of Hematology.
Volunteers needed.
The American Porphyria Foundation will host an Exhibit Booth at the Annual American Society of Hematology Convention at the Georgia World Congress Center, Atlanta, GA, December 8-10, 2012.
We are in need of volunteers to help man the Exhibit booth (dates and times are listed below), to educate eight thousand physicians who will attend the meeting. This is a wonderful opportunity for APF members in the Atlanta area to educate physicians about porphyria by distributing pertinent medical information and share your own experience with the disease. Together we can enhance awareness and education of the porphyrias. If you would like to be a part of this exciting opportunity, please e- mail Yvette atporphyrus@aol.com or call (713) 266-9616.
A young man in south western Nebraska is battling extremely rare skin condition.
Ever since he was born, Justin Hamilton has had an extremely rare disease that makes him allergic to sun light,
As Nebraskans, we all enjoy the outdoors, and we all take precautions to protect ourselves from the sunlight, whether it is a hat, sunblock, or long sleeve shirts. Justin Hamilton is no exception, but he has to take it to a whole new level.
"You know, I'm 28 years old and a lot of people think I've been in a burn or something with the scarring on my face and my hands, but it's really sunburn. There's something my body that doesn't make to prevent the UV rays from, you know, blister and whatnot, says Justin Hamilton , Living With Rare Skin Condition.
Justin was born with an extremely rare skin condition called Congenital Erythropoietic Porphyria. The symptoms are extreme photo sensitivity to sun light that leads to blistering, severe scarring, as well loss of facial features.
"There's very few people out there with this kind of condition and so it's really rare. So there aren't a whole lot of studies to fall back on, says Hamilton.
There are possible therapies for Justin's conditions, including bone marrow transplants, blood transfusions and even gene therapy and stem cell transplantation.
"We've got in contact with some doctors down in Texas that could really help us out. You know, there's a lot more research now and technology that, I Guess and hope We're not trying to get too excited, Maybe there's a procedure or surgery that they can do to get rid of whatever is my body doesn't make, says Hamilton.
Despite his condition, Justin lives a full life. He's a lover of animals and the outdoors and was recently married in 2011
"My wife is just amazing. She helped me out through thick and thin. I couldn't ask for a better wife, says Justin Hamilton , Living With Rare Skin Condition.
Justin Hamilton is one in 1,000,000, literally. Not only for his condition, but also for his attitude, outlook on life, and his great sense of humor.
"There have been times when I'm down but I have a great loving wife and family and friends that have always stood there behind me. I've always tried to give more than take and in return you get back what you give into it I guess you could say, says Hamilton.
There will be a fundraiser Sunday October 28th to help Justin Hamilton to raise money for medical expenses.
It's in Hayes Center at the 4H building starting at 5 p.m. with a meal.
And a Live Auction at 6:30. For a Detailed list of medical information on this Rare Disease CEP- Porphyria please visit www.porphyriafoundation.com you can also make a donation to support Research Dr. Education & the APF. Show your support for them both, learn how today.
Pharmacy Aligns With Hospitals to Reduce Readmissions
Wednesday - October 17, 2012 @ 20:06:18
Thinking about our Health in reading in a Health Magazine the following, how will this accept our care, could it help us? Enjoy reading this like I did and see how you may be able to benefit. This story is available to be copied and shared by:
Jacqueline Fellows is an editor for Health Leaders Media.
Pharmacy giant Walgreens announced a program Tuesday that it believes will help hospitals reduce read missions by using pharmacists to coordinate patient care during admission and discharge.
Hospitals are under the gun to lower readmission rates since the Centers for Medicare and Medicaid Services (CMS) started assessing financial penalties October 1.
At its core, Walgreen's program, called Well Transitions, lifts the burden of medicine reconciliation off of the patient, and off hospital staff. Exact details about medications are easy for patients to forget, and nurses need the information to do a proper workup, says Joel Wright, Vice President of Health Systems Operations for the retailer.
"When a patient is admitted, we would be brought in, and we would help provide medication history, rather than starting with a blank sheet of paper. You know, my dad went in and he's like, 'Well, I'm on a blue pill for my water.' So, this gives that nurse a starting point to have that conversation with the patient to really understand what that patient is on," says Wright.
The effort doesn't stop there. Wright says when the patient is ready to be discharged, a Walgreens pharmacy staff member will make bedside deliveries of medications a patient will need to take home. After that, a clinician will follow up with regular phone calls to make sure the patient is taking medication properly, and see that an appointment has been made with their primary care physician.
"The goal of this is to be closer to the patient and be closer, as well, to the prescribers andâ?¦ leverage those pharmacists to be more a part of the healthcare team and work more collaboratively and really even work with the system to help patients get, stay, and live well," says Wright.
There are about a dozen hospitals participating in the program now. The Walgreens wants to roll it out nationwide, and Wright says they're in the contract phase with "many" providers.
Sarasota Memorial Health Care System has been in partnership with Walgreens' Well Transitions program for over a year. Susan Gaillard, RN, a heart failure specialist for Sarasota Memorial says the program has had an "absolutely huge impact" at the hospital.
"I'm a heart failure nurse and my job is to counsel people on their heart failure and make sure that they have all the tools they need to take care of themselves. Medication noncompliance is a really big cause of readmission."
Gaillard said she had no hard data on how the pharmacy program affected its readmission rate, but another participating hospital, Washington Adventist Hospital in Takoma Park, WA. does, says Wright.
"We only took the high risk patients, so the patients they felt were most likely to readmit, and of the first 48, only three of them readmitted. If you just look at heart failure, for example, the national average around that would be 20 percent."
Retailers are expanding their role in the healthcare continuum. Retail pharmacy chains such as Walgreens and CVS, started moving closer to patients and providers years ago when they unveiled walk-in clinics. This month Wal-Mart announced that beginning in January 2013, it will pay for cardiac and spinal surgeries for its employees through a bundled payment arrangement with six hospitals.
Both Walgreens and Wal-Mart are promoting the programs as no additional costs to patients.
"Well Transitions does enter into an agreement with the health system, so the health system does participate, and it's all covered through the fee reductions or penalty reductions or avoidance through the Medicare healthcare reform," says Wright.
Acceptance of these programs from patients who recognize brands they trust may move the coordinated model of care forward.
Learn, Be Tested, and get the Help you Need. A Must Read.
Tuesday - October 16, 2012 @ 19:04:10
The APF is part of a committee which helps address the needs of the undiagnosed. Please take note of the following webinar for
Undiagnosed Diseases Program - Community Input webinar 10/17/12 2:30 pm ET
The Office of Rare Diseases Research- NCATS and the National Human Genome Research Institute are hosting a webinar to provide information to the patient community about a new NIH initiative to expand the Undiagnosed Diseases Program (UDP). In addition, significant time will be dedicated to discussing the issues listed below. We will use the information discussed to help in the selection process of clinical sites for the expanded UDP. This webinar is not to solicit new patients nor to answer diagnostic questions.
The physical and financial costs of the diagnostic odyssey What are the major barriers to obtaining a diagnosis?
Ready access to specialists, including:
Inability to see a specialist necessary to help obtain an accurate diagnosis
Number of specialists seen in order to get an accurate diagnosis
Issues getting specialists to talk to each other (coordinated care)
Travel requirements (restrictions or limitations due to disease), including:
Numbers of times have traveled out of town to be seen by a doctor when trying to get an accurate diagnosis
Numbers of times have traveled out of state to be seen by a doctor when trying to get an accurate diagnosis
Distance needed to travel ever prevented seeing a doctor to get an accurate diagnosis
Farthest distance have traveled in order to be seen by a doctor when trying to get an accurate diagnosis
Ease of Access to Newer Diagnostic tests, including
Problems gaining access to newer imaging or genetic sequencing tests necessary to get an accurate diagnosis
Insurance reimbursement issues for costs related to getting an accurate diagnosis
Amount of time required to get tests approved by insurance companies/3rd party payers
Annual American Society Of Hematology, We need your help.
Tuesday - October 9, 2012 @ 10:16:52
The American Porphyria Foundation will host an Exhibit Booth at the Annual American Society of Hematology Convention at the Georgia World Congress Center, Atlanta, GA, December 8-10, 2012.
We are in need of volunteers to help man the Exhibit booth (dates and times are listed below), to educate eight thousand physicians who will attend the meeting. This is a wonderful opportunity for APF members in the Atlanta area to educate physicians about porphyria by distributing pertinent medical information and share your own experience with the disease. Together we can enhance awareness and education of the porphyrias. If you would like to be a part of this exciting opportunity, please e-mail Yvette at porphyrus@aol.com or call (713) 266-9616.
The booth is ready to open for the 8000 doctors who pass by.
Desiree and Yvette set up the exhibit booth!
Lundbeck visits the APF booth!
Desiree and Marilyn Register
Saturday, December 8that 11:00 a.m. - 5:00 p.m.
Sunday, December 9th at 11:00 a.m. - 4:30 p.m.
Monday, December 10th at 10:00 a.m. - 2:00 p.m.
Get Involved with the APF! It makes you feel Better. How?
Friday - September 28, 2012 @ 12:54:28
Get Involved Become a member of the American Porphyria Foundation today, and join us in our work for your good health!
When you join the APF, you become an integral part of an organization that empowers patients and helps them on the road to accurate diagnosis, proper care, and some day a cure. Adding your voice to ours makes us all stronger as we address our needs to health care providers, local, state and federal agencies and Congress.
Members of the American Porphyria Foundation receive:
Our quarterly newsletter news about porphyria research and clinical studies, scientific meetings and member get-togethers, and stories about the doctors working in the porphyria field and about members like you; Access to the APF In Touch network the ability to connect with others who share your diagnosis; Free participation in telephone conference calls with top researchers in the porphyria field; Knowledgethat you are an important part of keeping reliable medical information about porphyria available to those who are newly diagnosed, or at a crossroads in their porphyria treatment, and frightened; And much more! The American Porphyria Foundation relies on member support to sustain programs like this website and other literature written or approved by porphyria experts.
U.S. memberships are $35 annually; international memberships are $45. The APF is a U.S. 501(c)(3) non-profit organization. All donations to the APF are tax deductible.
Join the APF by phone, mail, fax, or online.
To join by phone with your VISA or MasterCard, call us toll-free at 1-866-APF-3635 Monday-Friday from 9:00 a.m. to 4:00 p.m. Central Time. To join by mail or fax, please click here to complete and print the donation form.
Unable to pay? In case of need, we can waive the yearly $35/$45 membership donation. Simply write us a letter requesting that we waive the membership, sign and send it to the address below. We cannot accept waiver requests via email or telephone.
American Porphyria Foundation 4900 Woodway, Suite 780 Houston, TX 77056
Work with us! The American Porphyria Foundation welcomes donations of your time and talents too. Would you like to volunteer or raise money for the APF, organize or attend an event, in addition to informing yourself about the porphyrias? If so, welcome! Youll find lots more information in this section of our website on opportunities to get involved in our, and you can always call our office for help: 1-713-266-9617. Ask for Mira.
The APF is here to serve, and were proud to have you with us.
A Story About Aletta Longari & VP..
Saturday - September 22, 2012 @ 23:33:10
Some see what they lost; I see what I gained.
Like a typical youngster, I rolled my eyes when my mom gave me 'that look' and say; "Jy moet youself laat toets my kind! Van lekker lag kom lekker huil." (Translated: "You have to get yourself tested, my child! From too much laughter, comes crying.")
I grew up in a loving home, with a mother that was a retired nurse with a passion for the medical field, and a relentless urge to help people around her.My father loved teaching, literature, fishing, rugby and a Sunday braai (barbeque) with friends.I also knew he had a blood condition, that made him sick if he eats spinach, or drinks the wrong medicine; he wore gloves when driving when he was younger and my mom was very proud that she nursed him back to health. I remember him spending a lot of time sleeping, or spending time in his garage that was filled with tools, benches, a desk, books, a fridge and every other wonder to keep an inquisitive mind and restless body busy.
I remember him taking me fishing.My mom faffed nervously around for days before the expedition to Hartbeespoort Dam to get everything perfect: lots of food, a medicine bag, frozen water in plastic water bottles, only 2 beers, hats, umbrellas, and a promise of a death in the family if he gets sunburned! (Today I wonder if she gave him a speech or a warning of rather killing him herself, than trying to live with him while in a Porphyria attack)
I finished school a few days before my 18thbirthday, and was full of hope that my new life will be everything my teenage years in high school wasnt, as it was riddled with depression, failure, pain and being convinced I have cancer and that I am busy dying.
Suffering fatigue, trying to keep up with those around you, having to hear how lazy you are, and being suicidal at such a young age can really do a number on a young girl.I grew up in a very religious home, with strict guidelines, and parents that were much older than average. I never felt comfortable to voice my concerns not to mention thoughts to them.Being a parent of 2 teens today, I wish I did come clean with them and feel great remorse in finding them unapproachable.My pride, fear for being judged and simple teenage ignorance kept me from the help I needed.
Im sure my folks saw the signs in me when I hit puberty, but going to a boarding school 2 hours away from our new retirement home on the South Coast kept them only guessing.While they adjusted to coastal life and sharing the kitchen, I faced a whole new kind of hell.I was a 16-year-old girl; with new friends, new school and the only adult supervision was a young hostel mother that I only saw once in a blue moon.My grades were average, I was well received and although I could not keep up with sport, I looked fit and healthy.
Little did anybody know, and I wouldve been mortified if anybody found out; what strange things my body started doing. Debilitating headaches, and flank aches, constant nausea, fatigue, dizziness, anxiety, an itchy forehead, and depression made up for an average day.When lying in my single bed at night, between 12 other girls, my body would jerk and contract as if an electric current is sent through me and I will wake up gasping for air!
It goes without saying that I was scared to go to bed, and despised waking up.My soap and water beauty was no match to what I looked like inside and at age 17 my outer beauty also failed me when I began having ugly sores on my hands that became septic, took months to heal and left purple scars.I was in a constant state being sick, and the only thing that stopped me from making a bigger effort to act on my inner-thoughts, were the pain I knew I would inflicted on my parents.
At age 18 I set my sights on the big city with bright lights, with dreams of becoming successful, rich and independent.Although I did not know what I wanted to do, I knew I wasnt ready to study.I got myself a job in Pretoria as a sales lady in a high-end jewellery store, and soon my artistic nature became consumed by designing jewellery.
Again, I find myself alone and trying to live the life as an adult while thinking like a child.What I thought and felt during school days, was no comparison to the 3ed chapter in my life.Too much responsibility, cheating boyfriend, bills to pay, bosses to please, and the lifestyle of a lets-party-kinda-girl, I soon felt the wrath of my not-yet-diagnosed Porphyria, when being aggravated. Stress, lack of sleep, alcohol, poor diet and too much sun turned my life into a misery.The worse I felt, the harder I partied.The harder I partied, the worse I felt.I was convinced more than ever that I was dying with cancer, and that I was bi-polar.My dreams were shattered.
I was 20 years old, when I woke up with a toothache.I went to work and booked a dentist appointment during my lunch hour.Thirty minutes after a route canal, I started loosing control in all sorts of ways.My security guard, Jerry took one look at me, and said: mam, youre in trouble, and got on the phone to the company MD.I could not hold the phone, sit upright, or talk.I clenched my teeth so hard that I could hear my teeth grind. I tried to talk, but the words did not come out; instead I drooled and could not control my motor skills to wipe myself clean. The pain was blinding.Jerry walked me home, gave me medicine and called my mom.I think it is important to mention that Jerry was a big black Xhosa man that turned out to be guardian angel in days where racism in South Africa was at its peak.Jerry taught me that all I have to do is stop pretending and ask for help, anywhere, any place.In desperate times, there is no room for pride.
This was the day when my mom once again promised death to a family member if I did go to test myself for Porphyria.
I tested myself at age 21.Those days the medical profession were still very uneducated when it came to Porphyria, and doctors new very little about it.The tests came back 100% positive.With the news, my doctor opened his drawer, whilst saying: take one of these every morning and go to gym and threw a box of tablets over the table.I asked him what it was, and while standing up to lead me out of the room, he said anti-depressants, and oh yes; you will have to get yourself a medical aid bracelet.He opened the door, and ushered me out.Thank you doctor, good buy. ���..The name of the tablets was Anafranil.
I was alone at home that night, and something kept on nagging me.Also, something that my mother always said kept milling in my head: always take half of the prescribed doseâ?¦you never know.I took half of an Anafrianil, and again my world spiral out of control within 30 minutes.
My third full-blown Porphyria attack was triggered by a bout of flu.The nearest doctor available was a doctor that had his surgery in the same shopping mall where I worked.Jerry made me an appointment, and when it was time, I locked the store, and snuck away to get a prescription for my persistent cough.After filling in the patient information sheet, the secretary excused herself, and disappeared to the back.Next thing I know, the doctor stood in front of me, with a smile from ear to ear, and I could have sworn he tripled with excitement!It turned out that he was a Geneticist, and was busy writing a research paper on Porphyria!Best day of my life, right? .Wrong!
After answering a string of questions, having to listen to a long debate with the pharmacist downstairs, and getting a drawn-out explanation why Im prescribed a mixed coughing syrup, and lying through my teeth why I took and hour to go to the bathroom, Jerry finally came back with the medicine.I took a swig, and knew immediately that it was a mistake.Thirty minutes later, yes you guessed it; Jerry said:man, you dont look good��..
I lost my job because of Porphyria.For those that wants to know what the Geneticist had to say�.. his words, not mine:��. oh, shit!
And so my new life as a Porphyric finally sunk in:
My lesson 1: Never take medicine without a second opinion!
My lesson 2: Choose a trustworthy person to act as your guardian
to think, speak and run errands for you when you cant.
(I refer to this said person as a watcher)
Dealing with a diagnosis leaves us on an emotional journey:
The stunned and in shock stage. We ask ourselves: can it be true and we even ask: are you sure?
The confusing state of what to do and/or what not to do, and trying to figure out how it actually all works.
The stage where we realize that the information out there is too much to take in, and we have triggers are all around us, we start to fear that we might not get on top of this battle. This emotion expands to the acknowledgment that we will always feel ill and can indeed die because of these triggers and/of wrongful treatment.
When we are done dealing with our fears, our fight / flight instinct kicks in, and when it comes to survival, we will fight. The angry stage features were we wonder why me and I will not allow this to ruin my life.
When we realise that this is our reality, and there is nothing to do to change your fait, the frustrating stage seeps in, and leaves you feeling like a trapped animal. Porphyrics have no room for impulsiveness. Everything has to be investigated as a possible trigger. Experience comes with trail and error, and usually error can be a very unpleasant experience.
When we realize that we will never live a normal life and our loved ones dont know what we have to go through, and overwhelming feeling of hopelessness wash over a Porphyric. Like a wounded animal fighting for his territory to the point of exhaustion, and just lying in the long grass panting, wondering where to go from here�� that is best to describe it.
Stage 7 is where it became scary to me.
When we realize that we have to be labelled
When someone that has no idea what your world is like has to look after us, because we cannot always look after ourselves,
When loosing our minds is a definite reality, and
The medical profession is not yet equipped enough to deal with our illness.
These are all factors that make Porphyrics realize that we do not have control over ourselves. That feeling of not being able to trust our judgement or choices leaves us being strangers to ourselves. Something happens inside a person when we cannot trust our world around us, and we cannot trust ourselves. We go and hide.
Soon loneliness will set in, and we feel that we are outcasts and different. We start to think anti-social, and we start to distance ourselves from normal people. Even if we do want to join in group- activities, we often just cannot do so. May it because some of us cannot go in the sun, we cannot drink alcohol, we get tired quickly, we cannot trust the consequences of our actions, or we are simply just too ill.
You take normal life from a person and you make him/her live alone, and depression will soon set in. Porphyrics has a double-edged sword, as depression is not only a challenge to overcome emotionally, but first and foremost is a physical issue. Porphyrics needs an unwavering support system at this point, and cannot be left alone for too long.
Once we overcome the first stages of being diagnosed we start the grieving process of what we lost, what we will never have, and what our lives will be like. Grief is the normal process of reacting to the loss. A Grief counselor can do wonders and comes highly recommended.
With loss comes mourning. Mourning is the process by which people adapt to a loss. When we loose a loved one, we have ceremonies, we say prayers, we burn candles, have wakes, we cry together, and we hold each other, we give each other words of strength and encouragement, we help each other financially with the burial costs, and we check up on each other to make sure we are ok, and if we need anythingâ?¦may it be a meal, a errand or a hug. When diagnosed with chronic illness, we loose our lives, as we know it! The mourning process can only start with the right medical treatment and unwavering support of loved ones.
My lesson no 3: If a Porphyric dont have a steady support system by
stage 7, then a he/she should find one, may it be through a church, a
book-club, a website, a facebook page, a distant cousin or even the
security guard at work!
There comes a time when the only stage left is acceptance. This is the time when we make lists, share and compare. We seek others out, and realise that we are not alone! That feeling that you just discovered a whole new world with your kind is powerful. Slowly we will find peace that we do indeed have a place in this world, and that there are people out there that loves you just as you are. When peace comes, it is easier to talk about your disability, and family and friends will even found strength in yours.
Lesson 4: The 12 emotional stages in diagnosis never ends, it is a cycle.
May it be a health scare, having to have your own children tested, loss of a fellow Porphyric, or just life pushing you to re-evaluate: you will be challenged by the cycle again and again.
I was forced to start my own business after loosing my job. My health issues became so suspicious that the MD moved me from the branch that I managed in town, to the main branch in the more upper-class suburbia, but after not being able to pull myself together I was forced to resign.
I was given an opportunity to learn how to do artificial nails, work for a lovely lady and also rent a room from her.
At age 22, I found myself loving my new job, but still something felt wrong.
One summer afternoon I ran across the road, up the stairs to the ladies room, when I bumped into an ex-employee that I got to know at my old jewellery company. He worked as a goldsmith in the main branch, and often opted to drive me home when I became too ill to work. Did I mention he was the most beautiful man I ever laid eyes on? When I resigned, he left shortly after to start his own workshop, and we ended up working across the road from each other! His name was Roberto, but we used to call him Roby and yes, he is devastatingly Italian. Did I mention I had a huge crush on him while working together? The one time Roby asked me out, I felt too ill to even invite him in for coffee, and sadly declined. After that day, almost everything felt right. We instantly became friends, and got married a year later! Never did I know a person to love so intensely, accept my shortcomings without having to think about it, and give so much that it is more than his whole heart.
During our earlier years we had times where he nearly nursed me to death (literally), and other times wanted to kill me. Porphyria again stuck its ugly head out, and this time my beautiful Roby paid the price with me! The guilt was not overwhelming yet, as I was too busy being happy and in love.
The end of that year I gave birth to a healthy boy, and although not feeling my Porphyria being present whilst pregnant, I quickly started showing signs of,��..how did Jerry put it?: mam, youre in trouble!
Lack of sleep, stress of being a first time mom with a boy that just did not sleep, back at work again with unsavoury chemicals, and getting used to fitting in as an outsider (again) with an feisty Italian family, a new widower father-in-law lives with us while we both have our businesses at home��
5 Months after Longari Jnr. was born, we packed up and moved to Cape Town to be closer to my parents (father-in-law-and-all). I was in trouble indeed, and besides the headaches, fatigue, anaemia and pain, the depression and brain fog was the biggest battle. Diagnosed with post-natal depression, live goes on till I broke down 11 months later. By this time Roby must have asked himself what the hell he got himself into, and how the hell is he going to fix it. We moved into our own home: now change. I got a part-time job to get out: no change. I go on anti-depressants: no change. We put Antonio into day-care for 3 mornings a week: no change. I start my own business: no change. Roby loves me more: no change.
In 1999 I found out that we are pregnant again. Instead of being excited, I am instantly mortified!
With the hell we went through the first time, and me being such a bad mother, how can I do this to two children?
By this time Antonio is 4 years old, and between him and Roby I made everyone miserable, including the cat!
Thanks to the support of 2 dear friends, my mom and dad and my cousin, I accepted my fate and became a happy and at times, and healthy pregnant woman.
Luca was born in the same year, and to try and make this pregnancy completely different from the first, I had a selective caesarean and bottle-fed. By then the patient info sheets acknowledged Porphyria as a severe allergy, and I could just make a tick-mark in the block next to the name!
Besides being on a Morphine drip, and high as a kite (for the lack of other options), I was happy and convinced that I turned a corner. We are going to be a happy family and Im going to be mom of the year! Wrong again!
My lesson 5: What comes up, must come down. I find it takes a lot
of energy to be happy. For me even if it comes naturally, it takes so
much out of me, that I find that I will break down somewhere along
the way, and be very low, even depressed. Porphyrics often are
misdiagnosed with bi-polar for their mood swings and suddern bouts of depression. Porphyrics are know to be unbalanced, but I also like to think that when we have the chance to let our hair down, we do so in excess! The simple reason for this is that it feels so good, and we miss it.
I was worse than ever! Added life stresses, Roby being disinherited because of me saying the wrong thing at the wrong person, financial stress and a employer that abuses Roby to no end, I could do well was beating myself up, and do exceptional well is screaming at my boysâ?¦ Again Jerrys words ring in my ears: mam, you dont look good
My lesson 6: When being a Porphyric, watch what you say! Never
say something on impulse. We are often misunderstood, and more
than often say it as it is. Loved ones will get hurt and others might
use it against you.
My lesson 7: When you are broken, your loved ones are hurting.
I cannot stress enough how important it is for Porphyrics to have their
family as a support system! This statement is especially aimed to the
extended family, as often the spouse and children are overwhelmed
and bewildered. We relay heavily in moms, dads, brothers, sisters,
cousins, aunts, uncles and grandparents.
How I wish to take those days back.
I asked myself: how does Roby stay with me, and what keeps him close? Today, after 18 years, I still ask myself the same question, with a slight difference: â?¦.more guilt.
My lesson 8: Hold on to those loved ones that stick with you! Make
a point of it to reach out to them, and thank them for
being in your life.
My mother was diagnosed with colon cancer in 2002. Antonio is 5, Luca almost 2, and cannot hold myself together, leave alone a steady job. Somehow I get by, and with Roby as my emotional rock, I do the best I can,
which is not nearly good enough for my own liking, not to mention those around me, especially my extended family that took full advantage to slander me when I didnt have the energy nor clarity of mind to fight back.
To add fuel to the fire, I started a Surf Lifesaving Club in our community with 49 members, of which 50% were underprivileged kids! Why? To make me forget, to make me feel useful, simply just to do good. As much goodness we created with the club; that is how much bad it did my health. Sitting on the beach in mid-summer, often just with an umbrella, working late nights, and all the other wonderful stresses running a NPO sure did a number on me. Roby was furious, and stood in the car park many Sundays shouting: Love! Get out of the sun!
My lesson 9: Often Porphyrics will go into overdrive when they can
get into something. They are often obsessive compulsive, and
will work themselves to a standstill when they can, for the simple
reason that we have so much to prove, we feel we are in dept, and
we try to get maximum effect through our efforts, for we dont know
when/if we can do so again. Porphyrics needs to pace themselves!
After 8 years of looking after my folks as best I could, and in-laws that caused more stress than love in our lives, and a flourishing club that turned into a full-time job, I was left with 4 funerals in 18 months! I was living on adrenalin, and when I wasnt making lists, shopping, waiting in line, or driving taxi; I was laying down with clenched teeth and praying to make me hold out until my folks were gone. The stress that I endured left me in a permanent state of being ill and knew that it would leave scars. I lived for my two suns, and I fought not to disappoint my dear Roby, whom stood by me even when he sometimes couldnt watch how I go into self-destruct.
How did I do it? By showing unconditional love, not let fear alter my thankfulness, and making lots of lists!
It is incredible how our views and priorities change when you know that time is waisting away.
My lesson 10: In order for healing to begin, we must create order in chaos-Dr. Oz
I am currently still under supervision of a specialist, and the battle to get my Variegate Porphyria under control still continues. My sons will be tested soon and every day I plot how to make 18 years of unwavering support and love up to Roby. I still life have my dark days, but black comes in many shades. With the right doctor I could determine that Porphyria was not the main culprit of my deteriorating state, and that it was triggered by inflammation and chronic Bilharzia!
My lesson 11: Do not stare yourself blind against your Porphyria.
Often it will flare up in defence rather than an offence.
How did Porphyria affect my life?
Personally; I lost my self-worth and confidence and guilt is an overwhelming reality.
Spiritually; I lost my creativity and my passion and lived in self-conviction of being cursed.
Romantically; I lost simple moments to make lifelong memories that I could never re-claim.
Socially; I lost the respect of many through the years, and still have to tolerate naïve comments.
Physically; I lost my strength and became all I feared, such as being fat and full of scars.
Finically; I lost jobs, business, and still loose clients. Lack of money is a constant worry.
Much were lost, but what we should ask is what were gained.
Experience that left me with a deep appreciation for life and left me with an understanding to treat
others the way I want to be treated.
My curse brought the gift to help others and that in it self became a blessing.
I see beauty in everything around me and by celebrating it, it stills my fears.
I gained compassion and patience for the matters that matter.
Above and beyond all else, I gained my self-worth back by sharing my story, and realize that all has purpose, nothing is right, and that is alright with me.
The FDA Safety and Innovation Act! What you need to Know!
Thursday - September 13, 2012 @ 22:53:41
The FDA Safety and Innovation Act
was signed this week thanks to the APF and other Rare Disease Organizations.
This is a monumental step toward the development of safe and effective treatments for millions of Americans with rare diseases. Specific to the rare disease community, the Act provides the following: accelerated patient access to new medical treatments the development of Humanitarian Use Devices (medical devices for small patient populations) accelerated development of "breakthrough therapies" -- those that show early promise enhanced FDA consultation with rare disease medical experts a rare pediatric disease priority review voucher incentive program resolution of conflict-of-interest issues that kept voices of rare disease medical experts from being heard This contains the most groundbreaking measures for rare disease patients and their families since the Orphan Drug Act of 1983. This legislation represents great progress for people with rare diseases, who often struggle to access treatments for their particular disorder, like porphyria. APF Executive Director, Desiree Lyon Howe, said about the new act, "Our thirty years as advocates enabled the APF to identify and articulate the unique needs of people with rare diseases for interested legislators." Desiree was one of the pioneers and supporters of the Orphan Drug Act and has been involved in rare disease legislation for 30 years.
Remember. Research is the key to your cure!
How can you show your support for the American Porphyria Foundation for such causes as "Protect the Future" or Research Programs?
Thursday - August 30, 2012 @ 17:00:52
How can you show your support for the American Porphyria Foundation for such causes as "Protect the Future" or Research Programs? Look at how people have helped show there support to the APF. Why we need you and how you can help. Look at these past ideas and upcoming events! Are you ready to show your support? We need to train good Doctors, we think of all the support and the many efforts the APF does for us how can we show our appreciation lets give back! Just take a moment to reflect on all these important Fundraisers: Desiree Lyons did a Pet beauty contest many joined with there pets to raise money for the APF. Rob Saupe has walked over 100 miles on foot to raises awareness for EPP! He has raised so much awareness and had many donations come in to support his walk! Amy Chapman enjoyed selling the wristbands that can still be bought and has sold over 400 wristbands and raised over 1300.00$ Please call the APF @ 866-APF-3635 if you want to raise awareness and support funding for these programs. These are just a few ideas & ways to show your support and appreciation for the APF! Now, look at this upcoming event:
My name is Dan Yelen. I am 23, going on 24, and I play for the Chicago Heretics in a paintball league. I've been with them since their beginning in 2007. In my life I have done some very interesting things, including TV appearances with th
e Heretics. As a team we've received a Bob Long sponsorship that got us our own private label victories. I've written for Facefull Magazine, toured with Styx working as a roadie, and met many rock and roll celebrities through that opportunity. I've worked Bonnaroo and filmed some of the biggest up and coming artists this year. Yet the thing I am most proud of is my work for the American Porphyria Foundation. You see, I have Acute Intermittent Porphyria, one of eight forms of Porphyria. For me and my form of the disease, it stems from my liver. It causes me intermittent bouts of extreme pain in my abdominal region, limb numbness, fatigue, delusions, and other symptoms. It is a hereditary disease that I received from my mother, who suffers from it worse than I do. She receives treatment monthly with Panhematin, which is infused via chest port. It is the only treatment for acute porphyrias. This drug, Panhematin, is the reason I've been back and forth to Washington D.C. meeting with Senators defending it's production and the rest of the drugs listed under the Orphan Drug Act. Because this is a rare, hereditary disease, all funding for the disease's research and public awareness comes mostly from the pockets of private donors. Funds are limited for the foundation, so, I have taken upon myself to ask for assistance from the paintball industry, the industry I know and love. Please join me November 4, 2012 in East Dundee, Illinois at Paintball Explosion held at paintball field, for a Fundraising Event designed for the fun of new, as well as experienced players. Portions of the entry fees and paint sales will go to the American Porphyria Foundation, as well as funds raised through the items we will be raffling away at the event. This game will be for fun, of course, and I encourage you all to have as much fun as you can with your family and friends. Bring your brothers, sisters, husbands and wives. Since porphyria runs in the family everyone in the family can participate. We hope to introduce new players to the game, welcome them, and teach them all about this game we love while trying to end the disease that has stricken my family, as well as thousands of others. Thank you, and I hope to see you in November. Dan "Leech" Yelen Thank you Dan and all of you who help the APF!
Attitude and Healing- My Perspective
Monday - August 20, 2012 @ 21:41:54
Having a positive attitude has helped me get through my treatment, both when I'm in the Hospital, Infusion Center and at home. It helps me feel better and hopefully those who I come in contact with. A friendly smile or kind word spoken can really unite us together and reminds us we are not alone. We fight this disease together, and together we can overcome adversity. Just as there is no denying we have our dark days of Porphyria, and what it has brought me, there are many gratifying days filled with support, and hopefulness. These help me carry through. Recognize and appreciate the bright days and draw strength from sharing your own experiences with others. Attitude and outlook are helpful weapons in living with this disease and, as you know, you need every tool available, why because its R.A.R.E.. So, In addition to your Doctor, APF suggestions, and treatments you must ENDURE, try building a positive attitude into your regimen. The smile you display and the one you'll receive back is infectious.
Your approach to treatment and getting your positive drive to get better will help everyone!
Listen to OLDER ONES!
Friday - August 3, 2012 @ 23:41:26
Food for thoughtAlways LISTEN TO THE OLDER ONES
I have listened to this kind gentle 87 year old man in these last few days that I would like to share with you all. No matter what never give up. You always do the best you can. Someone will always try to top you or better themselves, never stoop to that level and when faced with a hard decision in your life DON'T make a rush decision because if you make the wrong one you may regret it. That is what a young 87 year old stranger with cancer said to me, it gave me time to reflect on my own thoughts & life and the things that I do have both good and bad but we can all make better choices so try to make each day better and when you do have a bad day think of the good things you do have going for you.
Ruth Bruno her personal story with AIP
Wednesday - August 1, 2012 @ 19:11:28
Type of Porphyria:
Acute Intermittent Porphyria (AIP)
My name is Ruth Delores Bruno, and I live in Rolling Meadows, IL. I am married and the mother of two young sons. In 1973, while driving home from work, I started to mentally prepare for dinner. It was 5:00 PM and traffic was slow. My two sons were at softball practice and my husband had a tennis match after work, so I had plenty of time to stop at the bakery. As I parked my car in front of the bakery, I started to feel strange. My legs and hands were beginning to tingle and then a familiar pain started to throb in my right side. I turned and hurried to my car. Then all my symptoms returned; pain in the right side, numbness, nausea, projectile vomiting, heart palpitations, confusion, panic, and, of course, fear and embarrassment. I began to vomit uncontrollably and my pain intensified. I tried to walk into my house but fell and dragged myself into my kitchen to the phone. I called my Doctor. He sounded exasperated, because he thought my symptoms were mental, but nonetheless, he sent an ambulance to admit me to the hospital. The doctor in the ER thought I had symptoms of a rare disorder and decided to do a WATSON-SCHWARTZ test on my dark wine-colored urine. By the time my husband and my family doctor arrived, the test was positive. My doctor apologized, "I am sorry, Ruth. It appears that you have not been imagining your pain." "Sorry," I thought, "nine years of tests too numerous to remember and all the money spent on incorrect treatment, and he is sorry." I wanted to scream and cry, but instead I got dressed and politely said, "Thank you". I was subsequently sent to a teaching hospital in Sayre, PA. After a week of tests, x-rays, and psychological exams, I was given the diagnosis of AIP. While I waited for my husband to come for me, I bought a newspaper and tried to concentrate on the national news rather than my own news. The national news was depressing too, so I turned to the Help Wanted section. An ad jumped out at me. New York State University was offering a new nursing program for adults. It was fate, because that class was taught one mile from my front door. The classes were the same hours as my children's, as well as the same holidays, etc. I had prayed for guidance, and here it was. I took the entrance exam, passed and was accepted into the program. It was the best thing I ever did for my family and me. The following two years were filled with hard work. I learned to forgive human mistakes and to respect good doctors and nurses. I also learned to sincerely listen to what patients communicated to me in words and actions. I learned to speak in layman's terms when explaining treatments and procedures, and I have developed a very strong shoulder when someone needs it. Porphyria has helped me grow in so many ways. It also has brought some wonderful people into my life. Fortunately, my sons and my sister tested negative for porphyria, but I still live with attacks. As a little girl growing up in a small southern town, I never dreamed I was going to face a rare disease and most of all, I never dreamed that I would become a nurse to cope with it all.
Why Is Getting A Rare Disease Diagnosis So Difficult?
Wednesday - August 1, 2012 @ 19:02:44
Why Is Getting A Rare Disease Diagnosis So Difficult?
It can be a long, frustrating process
Getting a correct diagnosis is often a major challenge for someone who has a rare disease. Many people are unable to get a diagnosis, are misdiagnosed or have one diagnosis then another. There are many reasons why getting a rare disease diagnosis can be a long, frustrating experience.
Your disease is rare
It may seem obvious, but the very fact that a disease is rare makes it very difficult to be recognized. You may see many doctors before you finally find one who knows something about what you have. Some diseases are so rare that only a geneticist (genetics specialist) would be able to identify them after genetic testing is done.
Some rare diseases have symptoms, such as weakness, anemia, pain, vision problems, dizziness or coughing. Many different diseases can cause these symptoms, so they are called nonspecific, meaning they are not signs of a specific disease. Doctors are trained to look at more common causes of symptoms first, so they may not be thinking along the lines of a rare disease when they examine you.
Your symptoms are unusual
It seems logical that having an unusual symptom would help in pinpointing a diagnosis. This is true if the doctor examining you is familiar with a disease that causes the symptom. If he or she doesnt know of any disease that causes the symptom, then most likely you will be referred to a specialist who may know something about your condition.
You dont have 'textbook' symptoms
You may have a rare disease, but your symptoms do not fit the classic or typical picture of the disease. You may have symptoms that dont usually go along with the disease, or you may not have all the symptoms that are expected with the disease. Doctors may hesitate to diagnose you with the rare disease because of this.
You have been waiting forever to see a specialist
Its difficult to get an appointment with some doctors, most of all those who specialize in rare diseases. It may be 3 to 6 months before you can see someone who has a heavy schedule. It can be disappointing to wait a long time only to be told that theyre not sure what you have or that they want you to go see another specialist.
I know a mother of a child with a rare disease who has typed up some pages explaining what her daughters disease is, her medical and surgical history and her current medications. The mother hands copies of these pages to each new doctor who examines her daughter so she wont have to repeat everything yet again. You may feel as frustrated as she does, having to give the same information many times. It may seem as if the doctors dont read your chart or look at your test results. Seeing new doctors adds to the stress of getting a diagnosis.
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 at1-866-APF-3635.
Porphyria Education for MDs~ Have you Ordered this Yet?
Tuesday - July 17, 2012 @ 13:04:05
The APF promotes comprehensive health care necessary to manage life with porphyria. We encourage members to call the office and request a free Acute Porphyria Physician Education Kit for your doctor. Treating physicians can also get information about consulting a Porphyria specialist on diagnosis and patient care. Acute Porphyria Physician Education Kit contents: â?¢ Diagnosis and Management of the Acute Porphyrias, (Annals Int Med, March 2005); â?¢ APF Brochures on all of the porphyrias (written by porphyria experts); â?¢ Detailed information on biochemical and genetic testing for porphyria; â?¢ Detailed information on treatment of acute porphyria with Panhematin (hemin for injection), and preparing hemin with albumin. The APF also offers: â?¢ An acute porphyria Drug Safety Database; â?¢ Two Continuing Medical Education courses on Porphyria (online, free of charge to practicing physicians); â?¢ A PowerPoint presentation, suitable for detailed presentation to students and hospital staff; â?¢ Porphyria Live (30-minute educational DVD focusing on PCT, AIP and EPP, features patient stories and extended specialist interviews). For more information, call 713-266-9617 or 866-APF-3635.
Global Genes! Can we count on you? RARE Advocacy
Tuesday - July 10, 2012 @ 01:52:52
A major challenge facing the rare and genetic disease community is the lack of a forum for significant, open, and regular communication on common issues of broad interest. While each rare disease is unique from a scientific standpoint there are many other issues which span the entire rare community - resources, policy, funding, research, patient quality of life, clinical care, payers, etc.
Global Genes R.A.R.E will hold a Patient Advocacy Summit on September 28, 2012, from 9 a.m. to 3 p.m. at the Balboa Bay Club & Resort. Patient advocates will engage, learn, and discuss a variety of topics that directly affect them leading to collaborations that will benefit the entire rare community.
Topics of Discussion:
RARE Advocacy - You Have the Power
Innovative Technologies & Science
New Non-profit Business Models
Building Healthy Rare Disease Communities
Public Communication & Media Engagement
The event will be highly interactive. Panels and discussion will be prioritized over formal lectures and presentations. The outcome is not pre-set, it will be a collective effort based on the interactions of the participants. This annual summit is open to all in the rare disease community that wish to participate and is free.
Tentative Agenda
Friday, Sept 28, 2012 9am - 3:00pm
9:00
Introductions - sharing our common ground
10:00
RARE Advocacy - You Have the Power
10:50
Break
11:00
Innovative Technologies & Platforms
12:00
Working lunch - table-topic focused networking
1:00
Building Healthy RARE Disease Communities
2:00
Break
2:15
Communicating with the Public
2:45
Collaborations, re-cap, next steps, wrap up
3:00
Closing remarks
Sign Up
Finding, aligning, and acting on this common ground will further empower the rare community to establish a powerful shared, vibrant, and global voice that will lead to increased awareness, support, actions and response.
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 at1-866-APF-3635.
Porphyria Education for MDs
Friday - July 6, 2012 @ 16:47:26
Do you have this for your Doctors?
The APF promotes comprehensive health care necessary to
manage life with porphyria. We encourage members to call
the office and request a free
Acute Porphyria Physician
Education Kit
for your doctor. Treating physicians can also
get information about consulting a Porphyria specialist on diagnosis
and patient care.
Acute Porphyria Physician Education Kit contents:
Diagnosis and Management of the Acute Porphyrias,
Annals Int Med, March 2005);
APF Brochures
on all of the porphyrias (written by porphyria
experts);
Detailed information on biochemical and genetic testing
for porphyria;
Detailed information on treatment of acute porphyria
with Panhematin
(hemin for injection), and preparing
hemin with albumin.
The APF also offers:
In acute porphyria Drug Safety Database;
Two Continuing Medical Education courses on Porphyria
(online, free of charge to practicing physicians);
A PowerPoint presentation, suitable for detailed presentation
to students and hospital staff;
Porphyria Live
(30-minute educational DVD focusing on
PCT, AIP and EPP, features patient stories and extended specialist
interviews).
For more information, call 713-266-9617 or 866-APF-3635
New News from the APF!
Wednesday - June 13, 2012 @ 18:18:23
NEW at the APF
APF Pain Program
The APF has indicated a new Pain Project to help educate physicians on the extreme pain that many porphyria patients endure. Because some states have instituted stringent pain prescription policies, the APF has felt it necessary to focus on this issue as part of our physician education program.
We need your input. Please call or email the APF with your experiences -- good or bad. Please contact porphyrus@aol.com or contact Desiree at the APF office(713) 266-9617 or 866 APF 3635 Toll Free.
We are developing educational materials that will include the comments of experts around the world, as well as articles related to porphyria pain.
Protect the Future
Please remember that the APF has an ongoing Protect the Future training program to educate porphyria experts for the future. As our present experts approach retirement, we look to these young doctors to fill their positions.
For example, we need your help to provide travel to the different centers to train under different experts, as well as travel to national and international porphyria educational meetings to meet and share information with their colleagues around the world.
Training experts is a costly endeavor. Each of us benefit from their training. Without them, what will we do in the future and what will our physicians do without them. Porphyria Experts are the doctors who write the medical textbooks and journal articles that your doctors read to learn how to diagnose and treat porphyria.
Every day doctors reach out to the APF to ask for information from porphyria specialists. The APF also sends out thousands of physician education packets to your primary care doctors. In fact, if you want us to send your doctor a comprehensive packet, please contact the APF and give us your physician's name and address and we will send a packet forthwith.
The APF is asking that you make a special donation that goes directly to the Protect the Future program to train the next generation of experts. Watch the September APF newsletter, which will feature each trainee with their mentors. We are very proud of this group of young physicians. Your lives are in their hands.
EPP Trials Have Begun
The long awaited Phase III EPP Clinical trials using afamelanotide/Scenesse for EPP have begun in seven centers across the country. The following physicians at these respective centers are the primary investigators for the trials. Watch the APF eNews and the APF newsletter progress during the trails.
Dr. Karl Anderson
University of Texas Medical Branch
Galveston, TX
Dr. Montgomery Bissell
University of California
San Fransisco, CA
Dr. Joseph Bloomer
University of Alabama
Birmingham, AL
Dr. Herbert Bonkovsky
Carolinas Healthcare System
Charlotte, NC
Dr. Robert Desnick
Mount Sinai School of Medicine
New York, NY
Dr. Henry Lim
Hwnry Ford Health System
Detroit, MI
Dr. John Phillips
University of Utah
Salt Lake City, UT
The trials will continue for approximately six months. At the close of the trials, the collected data will be assessed and presented to the FDA. It is our hope that they will give approval for the afamelanotide/Scenesse treatment timely. The drug is already available for patients who are Italian citizens.
Once approved, the treatment will become available to patients nationwide.
Andrew T. Story "Living life as a Young person with EPP"
Monday - June 11, 2012 @ 19:28:18
Hello all I wanted to share a story with you his name is Andrew Turell he has EPP. I thought you might want to read his story to understand what a young person goes through. Enjoy reading and if you have a story you want to share please let me Amy Chapman know.
Type of Porphyria: Erythropoietic Protoporphyria (EPP)
Andrew's Story
Although I was not diagnosed with porphyria until I was 10 years old, I have always suffered from the pain caused by spending too much time in the sun. As far back as I can remember beach vacations and summer camp were always linked with itching, burning and sleepless nights. Before I was able to verbally articulate the sensation, the only reason my parents believed that the pain was real was because I would continue to scratch my hands and face even once asleep (fortunately, I do not get blisters or other visible symptoms).
I visited a number of doctors and was tested for a variety of allergies, but nothing stopped the reactions. Every summer, I would inevitably experience a handful of painful reactions that would last between two and three days. Ice packs and cool wet towels were the only things that could alleviate the itching and burning. Unable to sleep, I would hole up in the basement because that was the coolest place in the house.
By chance my parents after one of my reactions, my parents were talking to an acquaintance who is a dermatologist. She diagnosed me on the spot without ever having seen me and suggested that I go to see Dr. Vincent Deleo. I did so, and he diagnosed me, put me on Lumitene and recommended certain sunscreens. Over time, I learned to take better care of myself and prevent reactions by reapplying copious amounts of sunscreen, wearing pants and long sleeves and avoiding sun exposure whenever possible. Even with all those precautions, I still continued to suffer a few reactions year.
Since I was a young kid, I have always loved baseball. Despite my EPP, I have continued playing and have recently started coaching as well. I wear long sleeved turtlenecks even on the hottest days of summer, and while playing baseball has caused the vast majority of my reactions, it has all been worth it.
Last year, I participated in the Afamelanotide trials at Mount. Sinai Hospital in New York. That summer, I spent more time outside than ever before and yet I did experience one bad reaction.
Currently, I am a student at the University of Pennsylvania where I am active in my fraternity, Psi Upsilon, and play on the club baseball team, eagerly awaiting the approval of Afamelanotide by the FDA.
Read about the HEME POOL Taken from the APF
Tuesday - May 22, 2012 @ 10:21:09
Imagine that the pathway is actually a river of porphyrins
and porphyrin substances which together flow into and
make up a big red-coloured pool called the Heme Pool. Like
a recipe, various ingredients (or porphyrin substances) are
added to this "river" at various stages to form the Heme
Pool. Along this river there are several gates (which represent
different stages of the Heme Pathway). These gates must
be opened fully by an operator in order to keep the proper
flow of the river into the Heme Pool. Each gate has a different
operator that has a unique key (which we'll call an
Enzyme Key) for the gate that he must open. The job of each
operator is to insert their Enzyme Key into their gate, and to
turn the key fully so that their gate will only open part way,
thus decreasing the flow of the river, resulting in a lower
level in the Heme Pool.
One day the operator at the third gate comes to work and
is not feeling well. Because of past incidences, we know that
when he wasn't well, he had taken medications that didn't
agree with him; drank alcohol; didn't eat all day; or got too
much sun. One or two of these things seemed to affect how
he did his jobâ?¦specifically how far he could turn the
Enzyme Key in the gate. When he had exposure to these
"irritants" before, it could not open fully. Regardless, he still
has to go to work, since no one else can operate his gate.
Unfortunately, because his gate doesn't open fully, the flow
of porphyrins start the Pool to tell the first gate operator to
turn up the porphyrin tap to increase flow. "Heme levels are
decreasing!" they say, not even aware that the third gate
operator isn't doing his job properly. This keeps continuing
until there is a flood at the third gate. This flood puts the
whole flow into chaos until the operator at the third gate can
get back to normal. For this particular gatekeeper in the
past, having him take sugar often helped him get back on
track. In a worst case scenario, a specialist would have to
be brought in to help get the third gate operator back to work and restore normal operations. If only he would have known to stay away from those irritants, he may not have had any problems!
Pick Your Brain with Motivation!
Saturday - May 12, 2012 @ 01:50:22
Here are some very helpful ideas to get you up and stay motivated. They have helped me and I think they will encourage you.
1. Consequences Never use threats. Theyll turn people against you. But making people aware of the negative consequences of not getting results (for everyone involved) can have a big impact. This one is also big for self motivation. If you dont get your act together, will you ever get what you want?
2. Pleasure This is the old carrot on a stick technique. Providing pleasurable rewards creates eager and productive people.
3. Performance incentives Appeal to peoples selfish nature. Give them the opportunity to earn more for themselves by earning more for you.
4. Detailed instructions If you want a specific result, give specific instructions. People work better when they know exactly whats expected.
5. Short and long term goals Use both short and long term goals to guide the action process and create an overall philosophy.
6. Kindness Get people on your side and theyll want to help you. Piss them off and theyll do everything they can to screw you over.
7. Deadlines Many people are most productive right before a big deadline. They also have a hard time focusing until that deadline is looming overhead. Use this to your advantage by setting up a series of mini-deadlines building up to an end result. 8. Team Spirit Create an environment of camaraderie. People work more effectively when they feel like part of team they dont want to let others down.
10. Recognize achievement Make a point to recognize achievements one-on-one and also in group settings. People like to see that their work isnt being ignored.
11. Personal stake Think about the personal stake of others. What do they need? By understanding this youll be able to keep people happy and productive.
12. Concentrate on outcomes No one likes to work with someone standing over their shoulder. Focus on outcomes make it clear what you want and cut people loose to get it done on their own.
13. Trust and Respect Give people the trust and respect they deserve and theyll respond to requests much more favorably.
14. Create challenges People are happy when theyre progressing towards a goal. Give them the opportunity to face new and difficult problems and theyll be more enthusiastic.
15. Let people be creative Dont expect everyone to do things your way. Allowing people to be creative creates a more optimistic environment and can lead to awesome new ideas. 16. Constructive criticism Often people dont realize what theyre doing wrong. Let them know. Most people want to improve and will make an effort once they know how to do it.
17. Demand improvement Dont let people stagnate. Each time someone advances raise the bar a little higher (especially for yourself).
18. Make it fun Work is most enjoyable when it doesnt feel like work at all. Let people have fun and the positive environment will lead to better results.
19. Create opportunities Give people the opportunity to advance. Let them know that hard work will pay off. 20. Communication Keep the communication channels open. By being aware of potential problems you can fix them before a serious dispute arises.
21. Make it stimulating Mix it up. Dont ask people to do the same boring tasks all the time. A stimulating environment creates enthusiasm and the opportunity for big picture thinking.
Master these key points and youll increase motivation with a bit of hard work.
Tests for Porphyria diagnosis
Friday - April 27, 2012 @ 12:39:11
Many of you are wanting information on the Testing Procedures for Porphyria. It can be very hard to understand let alone explain to someone. But please take your time and reason this information is taken directly from the APF under Testing for all types of Porphyria and how its broken down. If you would like additional information sent to you please contact the APF for brochures an ER Kit that is very informative and beneficial for you and your Doctor(s). 1-866-apf-3635.
Tests for Porphyria diagnosis
The porphyrin precursors ALA and PBG and porphyrins are readily measured in urine. Normal urine contains appreciable amounts of these substances, and different individuals may have widely different levels. It must also be remembered that "normal ranges" do not necessarily include all normal people. Therefore, small increases, especially in porphyrins, are not always significant. ALA is an amino acid, and PBG is a pyrrole. Both are colorless, but when present in large amounts in a solution such as urine, PBG can spontaneously form uroporphyrin, which is reddish, and other products that are brownish. The Mauzerall-Granick method and variations of that method are preferred for measuring ALA and PBG and have been available for many years. The test involves first separating ALA and PBG from each other and from interfering substances in urine, and converting ALA to a pyrrole. Ehrlich's reagent, which reacts with pyrroles (and some other chemicals) to make a colored substance that is readily seen, is added, and the color is measured separately for both ALA and PBG with an instrument called a spectrophotometer. The Watson-Schwartz test and the Hoesch test are qualitative tests (result either positive or negative) for PBG that also use Ehrlich's reagent; they may lead to false positive results if the person doing the test lacks experience in interpretation. These two tests are rarely used if at all. If a qualitative test is positive, a quantitative assay should be done later on the same sample. Because PBG is generally so strikingly increased during an attack of acute Porphyria, quantitation even on a spot sample (rather than a 24 hour collection) is highly informative. Requiring a 24 hour urine collection for quantitative measurements during an attack may result in considerable delay in confirming the diagnosis. Furthermore, ALA and PBG may drop considerably (especially in HCP and VP) if there is a delay of several days in collecting a 24 hour urine. In HCP and VP, urinary porphyrins generally remain increased longer after an acute attack than do ALA and PBG. Therefore, screening for acute porphyrias should probably include measurement of total urinary porphyrins. However, it needs to be kept in mind that nonspecific increases in urinary porphyrins are common. Measurement of PBG in serum is useful when acute Porphyria is suspected and urine cannot be collectedfor example in patients with kidney failure. Serum PBG is increased in serum in the acute porphyrias, although when kidney function is normal, the concentrations are lower than in urine. Porphyrins are tetrapyrroles (composed of four pyrroles). Porphyrins in their oxidized forms are reddish in color and are also fluorescent. Fluorescent substances, when exposed to light at certain wavelengths, emit light with a different wavelength. Porphyrins appear intensely red when exposed to long-wave ultraviolet light (UV-A). This makes them visible with a Wood's lamp, and enables them to be measured accurately with a spectrofluorometer. Within cells, all porphyrins that are intermediates in the heme biosynthetic pathway, with one exception, are in the reduced form, and are colorless and nonfluorescent. The last intermediate, protoporphyrin, is an oxidized porphyrin. Porphyrins that leave the cells and appear in blood, urine and feces are mostly oxidized and appear reddish to the naked eye and are fluorescent. The total amount of porphyrins in a urine sample is easily measured. This is a useful test for screening especially when combined with ALA and PBG. But an increase in urine porphyrins is nonspecific, and may not be an indication of an acute Porphyria if ALA and PBG are normal. A variety of porphyrins are present in urine. When there is an increase, particularly a large increase, in total urine porphyrins, it is often useful to determine the individual porphyrins found in urine. It is seldom important to do this if the total in normal. The most common method for separating the individual porphyrins is "high performance liquid chromatography" (HPLC). This method will measure amounts of porphyrins with 4 or more carboxyl groups found in urine (see Table 3). In interpreting HPLC results, it is most useful to see which porphyrins predominate rather than focus on the amounts of each porphyrin.
Table 3. Porphyrin names and the corresponding number of carboxyl groups
Carboxyl groups make the porphyrin more soluble in water. Porphyrins with less than 4 carboxyl groups are not found in appreciable amounts in urine. The less soluble porphyrins with 2-3 carboxyl groups are excreted mostly in bile and feces. Coproporphyrin is excreted by both routes.
Porphyrin names
Number of carboxyl groups
Uroporphyrin (octacarboxyl porphyrin)
8
Heptacarboxyl porphyrin
7
Hexacarboxyl porphyrin
6
Pentacarboxyl porphyrin
5
Coproporphyrin (tetracarboxyl porphyrin)
4
Harderoporphyrin (tricarboxyl porphyrin)
3
Protoporphyrin (dicarboxyl porphyrin)
2
Coproporphyrin predominates in normal urine. An increase in total urine porphyrins with a predominance of coproporphyrin is seen especially in HCP and VP. But this finding alone is very nonspecific, because increases in urine porphyrins and especially coproporphyrin are common in many medical conditions such as liver diseases, bone marrow disorders and lead poisoning. Therefore, increases in urine coproporphyrin are often not due to Porphyria. When total urine porphyrins are increased due to PCT or HEP, the increase is predominantly accounted for by uroporphyrin and heptacarboxyl porphyrin. Hexa- and pentacarboxyl porphyrin are increased to a lesser degree. These increases are understandable, because the corresponding reduced porphyrins are, in sequence, substrates for UROD, the enzyme that is deficient in PCT and HEP (Table 1). The enzyme removes 4 carboxyl groups from uroporphyrinogen one at a time to form coproporphyrinogen. Therefore, uroporphyrinogen and the intermediates with 7, 6, and 5 carboxyl groups also accumulate when the enzyme is markedly deficient. Adding to the complexity of the porphyrins in PCT is a series of porphyrins called isocoproporphyrins, which result from the next enzyme in the pathway acting on pentacarboxyl porphyrin. The body makes primarily the isomer III type of porphyrinogens, because only these are precursors of heme. But some isomer I porphyrinogens are made in small amounts and are excreted. HPLC detects the different isomers, which adds even greater complexity. The isomer I porphyrins predominate in urine (as well as erythrocytes, plasma and feces) in CEP, because of the marked deficiency of the enzyme UROS. Sodium carbonate (5 grams, added to a 24 hour urine bottle prior to collection) is widely recommended for urine specimens intended for measurement of PBG and porphyrins. It is widely recommended that acid be added to containers for collection of urine in which ALA is to be measured, because ALA is more stable in acid. This may be suitable if only ALA is to be measured as, for example, in screening for lead poisoning. Unfortunately, acid conditions enhance degradation of PBG, and it is seldom important to measure only ALA. Therefore, if Porphyria is suspected, sodium carbonate rather than an acid should be used, because it will be important to measure PBG and possibly porphyrins, as well as ALA, in the sample.
Fecal Porphyrins
Total fecal porphyrins are markedly increased especially in active HCP and VP and to a lesser extent in PCT and EPP. Fecal porphyrins can be separated and measured individually by HPLC. Porphyrins with 2-4 carboxyl groups generally predominate in feces. These are excreted by the liver into the bile and then flow into the intestine. As with urine, it is most useful to measure the total amount of porphyrins in a fecal sample. If this is increased, then the laboratory should determine by HPLC which porphyrins predominate rather than focus on the amount of each porphyrin. Fecal porphyrin determinations may be confounded by variations in fecal flow; most people have one or a few bowel movements daily and a "24 hour stool collection" is really not uniform from day to day. Substances in the diet and any internal bleeding into the stomach or intestines may also interfere.
Blood testsplasma or serum
Plasma (or serum) total porphyrins. Normally there are only trace amounts of porphyrins in plasma, and the amounts increase markedly in patients with cutaneous porphyrias. This is a very useful and underutilized test when a porphyria is suspected as a cause of photosensitivity. Being both sensitive and specific, it is increased in any patient with skin problems related to any type of Porphyria and is seldom increased in other conditions. The preferred method, at least for screening, involves diluting plasma with a nonacid, neutral buffer and measuring the porphyrins directly by fluorescence scanning. This can serve not only as a rapid screening method for all cutaneous porphyrias but can determine whether a patient has VP rather then PCT and other porphyrias that can cause blistering skin lesions. This method also detects some cases of latent VP. The excess porphyrins in plasma in VP are mostly covalently linked to plasma proteins and are readily detected by this method but may not be detected by the HPLC methods. It needs to be kept in mind that the normal range for plasma porphyrins is higher in patients with end-stage renal disease. Moreover, hemolysis of a blood sample invalidates a plasma porphyrin determination, because normal erythrocytes contain much larger amounts of porphyrin (in the form of Zn protoporphyrin) than does normal plasma. When the total plasma porphyrin is increased, HPLC can be used to determine which porphyrins predominate. This is done less commonly than for urine. Plasma porphyrin measurements may be less useful for detecting EPP than other cutaneous porphyrias. One reason for this may be that protoporphyrin is very light sensitive, and the concentration in the sample can decrease rapidly if it is exposed to light during processing. Therefore, erythrocyte porphyrins should be measured if EPP is strongly suspected.
Blood testserythrocytes
Erythrocyte porphyrins. Normal erythrocytes, in contrast to plasma, contain appreciable amounts of porphyrins. This is almost all protoporphyrin. Therefore, erythrocyte porphyrin measurements are customarily reported as erythrocyte protoporphyrin. However, the methods can detect other porphyrins and would be more accurately described as measuring total erythrocyte porphyrins. Because increases in erythrocyte porphyrins always almost are due to increased protoporphyrin, it is seldom necessary to separate the porphyrins in erythrocytes by HPLC. In CEP, however, isomer I uroporphyrin and coproporphyrin are usually the predominant porphyrins, as can be demonstrated by HPLC. The protoporphyrin normally found in erythrocytes is complexed with zinc (Zn) as Zn protoporphyrin. Zn protoporphyrin increases in many conditions other than porphyrias, including iron deficiency, lead poisoning and almost any type of disorder that affects erythrocytes. Therefore, increases in erythrocyte porphyrins are not specific for porphyrias. The only condition in which free protoporphyrin (not complexed with Zn) is increased is EPP. An increased erythrocyte protoporphyrin can be shown to be due to free protoporphyrin by a simple procedure called ethanol extraction. This is useful for confirming a diagnosis of EPP.
Erythrocyte enzymes
Assays for heme biosynthetic pathway enzymes in erythrocytes, especially ALAD, PBGD and UROD, have become widely available. These assays should not be used as first-line tests for porphyrias when screening patients with symptoms. They are useful for family studies, when it is established that an index case has a particular enzyme deficiency. Difficulties with these assays in clinical practice include the following: (i) Ranges for a particular Porphyria and normals may overlap. (ii) Some mutations may cause a particular enzyme to be deficient only in nonerythroid tissues. (iii) Falsely low values are common due to problems with collecting or transporting the sample. Some laboratories employ coupled enzyme assays that may lack specificity. If a patient is found to have a deficiency of more than one enzyme in erythrocytes, it is likely that the results are not reliable.
DNA tests
Specific mutations can be identified by DNA testing. This may be the ultimate means of confirming a diagnosis of Porphyria. Once a mutation is identified in a family, this is the most reliable means of detecting other carriers of the same porphyria associated mutation. Not every family with a given type of porphyria has the same mutation. For example, more than 200 different mutations have been identified in the PBGD gene in different AIP families. No single test for all of these DNA variations is available. Therefore, DNA testing is not suitable for screening for porphyrias, except within families. Furthermore, not all DNA variations cause the enzyme product to be impaired and lead to a disease. Therefore, a new mutation requires further research work in the laboratory to show that it impairs the enzyme product. For these reasons, DNA testing is most meaningful only after standard testing for Porphyria has confirmed a diagnosis.
Meet Dr. Karl Anderson
Friday - April 27, 2012 @ 12:36:22
Karl E. Anderson, M.D. Professor, Division of Gastroenterology and Hepatology
Karl E. Anderson, M.D. Professor of Preventive Medicine and Community Health Internal Medicine, and Pharmacology and Toxicology
University of Texas Medical Branch 301 University Blvd. Galveston, TX 77555-1109
Biosketch
A graduate of the Johns Hopkins University School of Medicine, Dr. Anderson completed his residency and postgraduate training in gastroenterology at the New York Hospital-Cornell Medical Center. He was a member of the faculty at the Rockefeller University, Cornell University Medical College and New York Medical College before coming to UTMB in 1987. He directs the Division of Human Nutrition in the Department of Preventive Medicine and Community Health, and is an active clinical investigator particularly on the General Clinical Research Center (GCRC), where he is also Associate Program Director. He is PI for UTMB's NIH K30 grant that supports a variety of clinical research education programs, Director of the Clinical Research Education Office, and Director of the Graduate Program (PhD or MS) in Clinical Science, which is suited particularly for physicians seeking advanced training in clinical research.
Research Interests
Dr. Anderson's research interests include (i) pathogenesis of human porphyrias and identification of factors that increase susceptibility; (ii) development of new therapies for porphyrias; (iii) effects of diet on drug metabolism in humans, especially by cytochrome P450 enzymes, and on circulating hormone levels; (iv) collaborative work on effects of soy feeding in humans on breast cancer risk.
Clinical Interests
Dr. Anderson clinical interests include human porphyrias, metabolic and nutritional aspects of liver disease, and general clinical gastroenterology and hepatology.
Selected Publications
Egger NE, Goeger DE, Payne DA, Miskovsky EP, Weinman SA, Anderson KE. Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C and inherited uroporphyrinogen decarboxylase deficiency. Digestive Diseases and Sciences 2002; 47:419-426.
Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ: Recommendations for the diagnosis and treatment of the acute porphyrias. Annals of Internal Medicine 2005;142:439-50.
Huang Y, Cao S, Nagamani M, Anderson KE, Grady J, Lu L-JW: Decreased circulating levels of tumor necrosis factor-alpha (TNF-a) in postmenopausal women during consumption of soy containing isoflavones. Journal of Clinical Endocrinology and Metabolism 2005;90:3956-62.
Nhan S, Anderson KE, Nagamani M, Grady JJ, Lu LJ: Effect of a soymilk supplement containing isoflavones on urinary f2 isoprostane levels in premenopausal women. Nutrition and Cancer 2005;53(1):73-81.
Akagi R, Kato N, Inoue R, Anderson KE, Jaffe EK, Sassa S: delta-Aminolevulinate dehydratase (ALAD) porphyria: The first case in North America with two novel ALAD mutations. Molecular Genetics and Metabolism. 2006:87:329-336.
Akagi R, Inoue R, Muranaka S, Tahara T, Taketani S, Anderson KE, Phillips JD, Sassa S. Dual gene defects involving d-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. British Journal of Haematology. 2006;132:237-243.
Anderson KE, Collins S. Open-label study of hemin for acute porphyria: clinical practice implications. American Journal of Medicine. 2006;119:19-24.
Anderson KE: The porphyrias (Chapter 72), in Boyer T, Wright T, Manns M (eds): Zakim and Boyer's Hepatology: A Textbook of Liver Diseases. Philadelphia, Elsevier, 2006, pp 1391-1432. 9.
Anderson KE, Porphyria cutanea tarda Ã?¢â¬ââ?¬Å? a possible role for ascorbic acid (Editorial) Hepatology, 2007;45(1):6-8. 10.
Madan P, Schaaf CP, Vardhan P, Bhayana S, Chandra P, Anderson KE: Hans Gunther and his disease. Photodermatol Photoimmunol Photomed 2007;23(6):261-3.
Desnick RJ, Astrin KH, Anderson KE. Heme biosynthesis and the porphyrias (Chapter 28). In: Suchy, FJ, Sokol, R,J, Balistreri, WF, eds. Liver Disease in Children, 3rd edition. Cambridge: Cambridge University Press, 2007, pp 677-693.
Anderson KE. The porphyrias (Chapter 223). In: L. Goldman and D. Ausiello., eds. Cecil Textbook of Medicine, 23rd edition, Philadelphia, W.B. Saunders Co., 2007, pp 1585-1593.
Finding a Good Doctor
Sunday - April 22, 2012 @ 11:41:48
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. American Medical Association American Society of Hematology American Association for the Study of Liver Diseases American Academy of Dermatology 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.
Awareness Week on Porphyria
Monday - April 16, 2012 @ 00:05:12
Look at all the Donations coming In. Have you taken a moment to donate, it's all for a good cause: AMERICAN PORPHYRIA FOUNDATION Nonprofit Media Check it out at: www.firstgiving.com under American Porphyria Foundation.
$4,579 Raised since 2011 25 fundraisers 146 donors Campaigns (2) APF Pet Beauty Contest Ends 8/30/2012
Since informing the populace of a public concern is often regarded as the first step to changing how the institutions handle it, raising awareness is often the first activity any advocacy group engages in.
With Porphyria we all have different forms, strengths and abilities so tell me what are you doing today to raise Awareness for Porphyria? Read about it, talk about it, donate time, energy, money. Hold a conference, inform your community, local news and TV. Walk for a cause! Run the race if you can, you make it known to all we are all going to win if we just try. Have a great week everyone!
National Porphyria Awareness Week April 22-28, 2012 is all about YOU
Tuesday - March 27, 2012 @ 22:46:02
The challenge of living with porphyria starts with how little is known about it among friends, family and the medical community. That is why National Porphyria Awareness Weekis so important. It provides each of YOU with the opportunity to enhance porphyria awareness among the public and medical professionals right where you live.Many of you helped last year, setting up at hospital Health Fairs, seminars and grand rounds, gaining newspaper and television interviews, exhibiting at conventions. Some members even created their own campaigns to advance porphyria awareness, but we need more of you to:
*Tell your story to local media. Television, newspapers, communitymagazines are looking for human interest stories about people who have encountered a major illness and have undertaken the challenge to help others in a similar situation. LeAnn Cook facilitated a family interview in the local newsletter about the boys EPP struggles.The Fleegel family appeared in a documentary on EPP that aired recently.
*SHARE knowledge about porphyria at your doctors offices and local hospitals. You might suggest that they host a seminar or grand rounds on porphyria. Some members have even set up an information table or exhibit at a health fair. Amy Chapman sold Porphyria Awareness wristbands and set up seminars for doctors in her home town and even on vacation in Bermuda.Joanna Floyd attended Health Fairs and sent emails about porphyria to nearby hospitals. Nathan Carrprovided educational material about porphyria to his hospitals medical library.
*ASSIST at an upcoming medical convention to help educate physicians on porphyria and/or ask your hospital or doctor if there is a local meeting where you can hand out materials. Lana Spoto, Janie Williams, Molly Buffington, Craig Humphries, Jessica Melton and her Dad, manned the exhibit booths at the Association for the Study of Liver Disease and American Society of Hematology medical conventions. You can do the same at this years meetings.
*VOLUNTEER your talents to help achieve the educational programs of the APF. Our talents are varied and plentiful and can be used to help one another. For example, you might want to donate one of your paintings, sculpture, weaving, etc. for our fall raffle. An anonymous donor sent the APF one of his paintings.
*VOLUNTEER your skills, like computer expertise, business acumen, or other skills to help achieve the educational programs of the APF. Computer expert, Rob Saupe, helped us with complex computer technical issues.
*HOLD a community race, car wash or other fund raising activity. Clarita Kimball and Lauren Warren raced in Night Runs to enhance porphyria awareness. Wyatt Kingentered a Box Car race for porphyria.
*HONOR your loved one with a gift to the APF for a birthday, anniversary, holiday or memorial gift, like Dr. Susan Engel did to honor Bill Kasper and Linda M Pisciotta to honor Dr. Rebecca Corley; Here is one of the most unique ways . Kate Ruby purchased 200 APF wrist bands to put in the favor baskets for each guest at her wedding to honor her aunt. More about the bride and groom and her aunt with porphyria story in the June newsletter .
*WRITE a letter to your friends and family asking them to make a donation like, Ralph Gray or vote for your pet in the Pet Beauty Contest, which will advance Physician Education and add some fun to our lives.
The APF can help you accomplish this goal by providing materials for your project:
Porphyria Brochures
A Porphyria Live DVD
Fact sheets
A Powerpoint Presentation
Information for Grand Rounds
Ideas to set up Medical Seminars
Ideas to exhibit at a Health Fair
Information to gain press
Press Releases
Do you Suffer from Allergies ~ By Mayo Clinic
Saturday - March 10, 2012 @ 14:06:46
·
Springtime allergies: Nip them in the bud
Relieve springtime allergies with these tried-and-true techniques.
Spring means flower buds and blooming trees and if you're one of the millions of people who have springtime allergies, it also means sneezing, congestion, runny nose and other bothersome symptoms. Springtime allergies also called hay fever and allergic rhinitis can make you miserable. But before you settle for plastic flowers and artificial turf, try these simple strategies to keep springtime allergies under control.
Reduce your exposure to allergy triggers
There are a number of things that you can do to reduce your exposure to the things that trigger your allergy signs and symptoms (allergens):
·Stay indoors on dry, windy days the best time to go outside is after a good rain, which helps clear pollen from the air.
·Delegate lawn mowing, weed pulling and other gardening chores that stir up allergens.
·Remove clothes you've worn outside; you may also want to shower to rinse pollen from your skin and hair.
·Don't hang laundry outside pollen can stick to sheets and towels.
·Wear a dust mask if you do outside chores.
Take extra steps when pollen counts are high
Seasonal allergy signs and symptoms can flare up when there's a lot of pollen in the air. These steps can help you reduce your exposure:
·Check your local TV or radio station, your local newspaper, or the Internet for pollen forecasts and current pollen levels.
·If high pollen counts are forecasted, start taking allergy medications before your symptoms start.
·Close doors and windows at night or any other time when pollen counts are high.
·Avoid outdoor activity in the early morning when pollen counts are highest.
Keep indoor air clean
There's no miracle product that can eliminate all allergens from the air in your home, but these suggestions may help:
·Use the air conditioning in your house and car.
·If you have forced air heating or air conditioning in your house, use high-efficiency filters and follow regular maintenance schedules.
·Keep indoor air dry with a dehumidifier.
·Use a portable high-efficiency particulate air (HEPA) filter in your bedroom.
·Clean floors often with a vacuum cleaner that has a HEPA filter.
When home remedies aren't enough, see your doctor
For many people, avoiding allergens and taking over-the-counter medications is enough to ease symptoms. But if your seasonal allergies are still bothersome, don't give up. A number of other treatments are available.
If you have bad seasonal allergies, your doctor may recommend that you have skin tests or blood tests to find out exactly what allergens trigger your symptoms. Testing can help determine what steps you need to take to avoid your specific triggers and identify which treatments are likely to work best for you.
An Interview with Victor & Sue Mejias about Porphyria EPP
Thursday - February 23, 2012 @ 23:24:04
A mini Interview with Victor about how he deals daily with EPP. Victor has made so many changes in his life he also serves as an administrator for the APF Facebook. His wife Sue also shares her views on this disease and how the two of them find comfort and joy despite having Porphyria. Enjoy reading all.
I was diagnosed with EPP when I was 6 I am now 43. My childhood was very tough. I had no one to talk to about my problem and I didn't understand it myself. People always looked at me funny and made fun of me because I couldn't play with them. I was very depressed as a child not knowing how I would survive and grow up to have a productive life. Now I have 3 kids and a new wife. They all try to understand but only "WE" with EPP truly understand each others pain. Life is not easy hiding in the shadows. There are many things I cant do because of my disorder. I missed most of my kids sports, parades and family events. Today was the first day I felt the burn of the sun on the drive into work. I suffer at work day to day as it is very hot and uncomfortable in the shop. When I get home I try to cool off and relax. My wife and kids are very patient as I can be very moody when I have reactions. My Passion is fishing. This is very difficult to do when you cant be out in the sun. The best time for me is early morning or late evening. I am always covered up. When they find a cure I plan on fulfilling my dream and become a professional fisherman.
Victor A. Mejias
It is very hard to watch the person I love, my husband have to hide from the sunlight. The sunlight that brightens my spirits, the sunlight that warms my body, the sunlight that I enjoy so much. It makes me very sad to know that my husband is held back from doing things that he loves because of this condition. It also breaks my heart that there are things that he will never experience because the pain he would suffer as a result would be too great. It hurts me to see him hurt when he is bothered by the sun. The physical and mental anguish he goes through because he pushed to do something we, people without EPP most likely take for granted. It is difficult to think about my husband as a child, not knowing why he is in pain, not being able to explain what he is feeling and everyone around him unable to see any kind of evidence of why he is in pain.
One of the positives I have seen is my husbands display of patience, kindness and compassion for others with EPP. He has listened to others stories and he has given very helpful advice/suggestions to mothers of children with EPP. That was truly beautiful!
Sue Mejias
Walking for the APF~How can you join and Help
Thursday - February 23, 2012 @ 22:59:14
JoAnna Floyd is setting a date soon June 2012 TBD for a walk to Help raise funds for the APF. Can you support her, can you walk, donate or sponsor a walker? Are there any volunteers near Pottstown PA? What about doing a walk in your own area and inviting friends, family, co-workers?
This is a great time to start planning and thinking how you can help and support ALL in your community, stay health and be well!
For more information on how you can join or participate please contact the APF@
1- 866-APF-3635, if you have a planned event and need any supplies, brochures, etc they will be happy to help. If you need wristbands please email AmyLChapman1992@gmail.com
Please stay tuned for more information soon to come.
Meet Dr. Peter Tishler
Tuesday - February 21, 2012 @ 20:41:46
Peter V. Tishler, M.D.
Dr. Peter Tishler is Associate Professor of Medicine at the Harvard Medical School, a Medical Geneticist at the Center for Human Genetics at the Brigham and Women's Hospital in Boston, Massachusetts, and Director of Residency Training at the Brockton/West Roxbury VA Medical Center.
His clinical interests are in the areas of public health genetics, genetic disease in adults and the porphyrias. Dr. Tishler also trains medical students, residents, genetic counseling students and clinical genetics fellows.
Boston Magazine has listed Dr. Tishler as one of Boston's Top Doctors For Women in the area of genetic counseling. We can understand why. His Porphyria patients are devoted to him and always thank the APF for providing his name as a Porphyria specialist.
Medical Information about Dr.Peter V. Tishler, M.D.
Saturday - February 11, 2012 @ 21:29:18
Dr. Peter Tishler is Associate Professor of Medicine at the Harvard Medical School, a Medical Geneticist at the Center for Human Genetics at the Brigham and Women's Hospital in Boston, Massachusetts, and Director of Residency Training at the Brockton/West Roxbury VA Medical Center.
His clinical interests are in the areas of public health genetics, genetic disease in adults and the porphyrias. Dr. Tishler also trains medical students, residents, genetic counseling students and clinical genetics fellows.
Boston Magazine has listed Dr. Tishler as one of Boston's Top Doctors For Women in the area of genetic counseling. We can understand why. His Porphyria patients are devoted to him and always thank the APF for providing his name as a Porphyria specialist.
The Positives Of Purple.
Monday - January 30, 2012 @ 14:07:47
We all loved this so much we put it on the blog for all to read. Thanks to July K. for all her hard work.
The Positives of Purple.
For as many years as I can remember, my favorite color has always been Purple.
As one who studies colors and their meanings, I thought I would share some with you. Purple represents: Ambition - the will to keep going. Royalty of the Kings and Knights of old. Power the strength within. Valor courage, virtue, and ethics.
But wait, purple is a mixture of others, Red and Blue.
Red represents: Passion in what you hold true. Strength in ourselves. Vigor - Physical or mental strength, energy, or force. Love to have and share.
Blue represents: Tranquility the calmness and peace within. Patience a learning experience in itself. Understanding from others and of oneself. Changeability the moment-to-moment awareness and adjustments we make.
On this new journey in my life, I have given Purple some new meanings. These may mean different things to you: Family History Unity
The next time you find yourself fortunate enough to catch a Rainbow in the sky, take note. Purple is the last color to show, and the hardest to see. But when it does, the Rainbow is complete.
Here are some exciting things going on at the APF and how you can be Involved!
Monday - January 23, 2012 @ 12:43:20
PORPHYRIA RESEARCH The following are some of the research projects of the APF Research Coonsortium. The following porphyria researchers direct the projects: Dr. Karl Anderson, University of Texas Medical Branch, Galveston, TX, Dr. Robert Desnick, Mount Sinai School of Medicine, NYC, NY, Dr. Joseph Bloomer, University of Alabama, Birmingham, AL, Dr. Montgomery Bissell, University of California, San Francisco, CA, Dr. Herbert Bonkovsky, Carolinas Healthcare Systems, Charlotte, NC, and John Phillips, Ph.D, University of Utah, Salt Lake City, UT. â?¢ Mitoferrin-1 Expression in Patients with Erythropoietic Protoporphyria (EPP) â?¢ A double-blind, randomized, placebo-controlled, parallel group trial on the efficacy and safety of Panhematin in the treatment of acute attacks of porphyria â?¢ Clinical Diagnosis of Hereditary Coproporphyria (HCP) â?¢ Quantification of the Effects of Isoniazid Treatment on Erythrocyte and Plasma Protoporphyrin IX Concentration and Plasma Aminolevulinic Acid in Patients with Erythropoietic Protoporphyria â?¢ Hydroxychloroquine (HCQ) vs. Phlebotomy for Porphyria Cutanea Tarda â?¢ EPP: Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact â?¢ A Pilot Study of Biomarkers Predicting Clinical Expression of Acute Porphyrias â?¢ Transplantation in EPP: A Review â?¢ Longitudinal Study of the Porphyrias Research patients are needed for these and other reseach projectsJust go to the Porphyria Registy on the top line of the APF website and follow the prompts. www.porphyriafoundation.com
Desiree Lyon Howe American Porphyria Foundation 4900 Woodway Dr. Ste 780 Houston , TX 77024 www.porphyriafoundation.com 1-866-APF-3635
Read Alyson's New Book with EPP.
Tuesday - January 17, 2012 @ 14:51:28
This link has been approved by the APF. Congratulations to Alyson Bullock Porter for getting Her book published and it's now available on Amazon.com. Alyson talks about how she lives her life with EPP. Very Inspirational! Great job Alyson!
We all make plans in our lives and hope that those plans go accordingly. . . . I know from personal experience that my life never goes the way that I expect it to. It never has. Because of that I am very grateful. Even though sometimes I don't understand why "life" happens the way it does, I am l
How to SUPPORT THE APF!
Tuesday - January 10, 2012 @ 22:45:43
This year the American Porphyria Foundation for 2012 is focusing on supporting the Physician Education Program. We have many fine Specialty Doctors that are approaching Retirement. We appreciate all of their hard work and time that they have devoted to their patients and the APF. But when they retire who will replace them? How will they be trained properly? Many wonder will we have support having such a rare disease. Will we have a cure for all types of Porphyria?
These questions are so important to each one of us. That is why we as the patients need to come together to support the new Doctors and the American Porphyria Foundation. How can we do this you may ask?
One way is by talking to your Doctor to raise awareness of the disease that you have. What problems you face and how you need a willing Doctor to take the time to listen to you and help you.
Secondly, tell your family and friends that you need their support to learn this disease and even show them they may have this disease to and maybe they need to be tested.
Another way is by supporting the American Porphyria Foundation with your yearly contributions to continue all the hard work that the APF does for us and Doctors. Do you know what some of the things are that they do for us? They make many phone calls, get Dr. Packets together, ER Kits out, take so many phone calls from us daily, coordinate meetings with Doctors, hold events all over the US. They help other Porphyria Foundations all around the world, they print brochures, paperwork, Disability and so much more we dont even see.
You can contribute in a financial way also. We know times are tough for all people and families. Costs are rising in all directions, but if you can think and then act we can get these new Doctors rolling to help us. Take a minute to call the American Porphyria Foundation tell them your personal story about Porphyria and how you can contribute to the Physician Education Program.
Keeping hands clean is one of the best ways to prevent the spread of infection and illness.
Learn more about when and how to wash your hands.
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.
Because PBG is generally so strikingly increased during an attack of acute Porphyria, quantitation even on a spot sample (rather than a 24 hour collection) is highly informative. Requiring a 24 hour urine collection for quantitative measurements during an attack may result in considerable delay in confirming the diagnosis. Furthermore, ALA and PBG may drop considerably (especially in HCP and VP) if there is a delay of several days in collecting a 24 hour urine.
The preferred method, at least for screening, involves diluting plasma with a nonacid, neutral buffer and measuring the porphyrins directly by fluorescence scanning. This can serve not only as a rapid screening method for all cutaneous porphyrias but can determine whether a patient has VP rather then PCT and other porphyrias that can cause blistering skin lesions. This method also detects some cases of latent VP.
