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Promote National Porphyria Awareness Week: April , 16-23 , 2011

Tuesday - December 21, 2010 @ 12:50:46

Lifting and carrying my daughter was also often difficult for me. Peculiarly, I only had trouble picking her up when my undiagnosed malady was inanactive state. Lelia was not a heavy child, but she was still more than I could handle without feeling overloaded. During my ill periods, myarms felt like lead pipes; heavy and stiff. My wrists ached with the slightest movement, and my hands were extremelyweak and lacked dexterity. To halt atrophy developing in my muscles, I worked on maintaining my strength byexercising each day even if I had to move my legs and arms in the bed. Sustaining my health for the long term was often overwhelming, but I tried to continue my efforts even if I only could manage to do a few minutes of exercise each day.
On the otherhand, I could be amazingly strong during my intermittent well periods. Being able to move furniture around the house some weeks and having difficulty lifting my child at other times, made no sense to anyone, including me. It was clear that during my episodes of abdominal pain and weakness, I lacked the stamina of a normal woman my age, but when the symptoms lifted, I was astonishingly strong and pain-free. Nothing physical made sense
When Lelia was almost two years old, I became pregnant with twins. The pregnancy was uneventful during the first three months. Then the elusive illness crept back into my life again. I could not explain why, but I instinctively knew that the illness was somehow related to my pregnancy. What made it stranger still was that some weeks were symptom-free and others were unimaginably tough. During those periods, breathing was difficult, walking was difficult; cooking was difficult; reading was difficult; mothering was difficult; absolutely everything was difficult. Since sleeping was the only easy activity in my life, I yearned for peaceful, uninterrupted sleep.
Sadly, the twins only lived a few days.At that point,I was convinced that whatever was wrong with me physically had a great deal to do with their passing.
As before, theillness disappeared as unexpectedly as it arrived and returned again with acruel blow. Even though the pattern wasconfusing, I was beginning to make some valid connections between my health, mydiet and my menses, however, my physicians were unwilling to listen to my observations. Although their irresponsiveness was frustrating, I could not blame them. Absolutely nothing out of the ordinary wasever viewed on a regular urine or blood test. Also, with one exception, my physicians at that time were excellent,compassionate doctors, who were baffled by a rare, elusive illness.
Before I continue, I think it is important to note here that I had not been diagnosed yet with Porphyria, and also, my situation was not necessarily the same as other women who suffer from one of the acute Porphyrias. Some women fare very well during their pregnancies and deliver healthy babies, while others experience difficult, even life-threatening problems. Unfortunately, it is impossible to predict which women will experience Porphyria attacks when they are pregnant and which ones will not. However, some Porphyria specialists feel that women with one of the acute Porphyrias are thought to be at twice the risk of an attack when they are pregnant.
Shortly after the tragedy with the twins, I was hospitalized again with excruciating abdominal pain. I did not lie in my hospital bed quietly and suffer in silence. I literally thrashed in the bed night and day, trying desperately to position my body in such a way that the pain would decrease, but there was no such position. The pain pills I was given did not work either. In fact, I felt that the varied combinations of medicines I had been prescribed only made my pain exponentially worse with each pill,so with that justification on my tongue, I boldly refused to take what the doctors offered me. That sort of defiance did not endear me to them and even made our already shaky relationship worse. I was not the kind of complaining woman who thinks I wont get good medical care unless I am the squeaky wheel. Rather, I had a resolve in my spirit and escalating pain in my body as evidence to back up my intuition that the drugs were killing me.
Unbeknownst to me at the time, my refusal of the medications turned out to be a lifesaving measure, as some of them were unsafe for Porphyria. I am not suggesting that people refuse to take specific prescriptions; rather I am suggesting that Porphyria patients mustbe careful and have their doctors check that the medicines they are prescribingare safe to use. My problem was compounded by the fact my doctors had not yet diagnosed my Porphyria.
It is very essential to find a doctor who is willing to see you to a diagnosis. It is also important for you to lean what you need to do receive a correct diagnosis.The tests are listed on the APF website. Had I had this list, I would have saved myself ten lost years without a diagnosis.

Misdiagnosis Adventures

Tuesday - December 7, 2010 @ 13:30:42

I am sharing a bit of my struggles to get diagnosed because most people with the acute porphyrias spend years trying to get a correct diagnosis and then subsequent treatment. So for a few more blogs, I would like to just continue telling you a very shortened version of "misdiagnosis adventure." It is my hope that you will share some of yours as welll. There is also a 'Member Stories" section of our APF website.

To continue, I became pregnant with twins and once again endured such attacks that I eventually lost my twin girls. Interstingly, women who have acute pophyrias and get pregnant have two different responses. Many feel GREAT. Some of them have told me that they felt better pregnant that non pregrant. Others have the reverse situation. Either way, they can have treatment if an attack occurs.

In my case, I didnt know I had porphyria , so I didnt' have a treatment option, so I lost my twins. Along with dealing with grief over the loss of my little girls, I was also very sick. Neither my internists nor my obstetrician related the cause of the tragic deaths of my two little girls or to my previous hospitalizations or the mysterious disappearing illness. Rather, they suggested that my symptoms were part of the unfortunate outcome of a difficult pregnancy and tragic miscarriage. However, I was convinced that whatever was wrong with me physically had a great deal to do with their passing.
As before, the illness disappeared as unexpectedly as it arrived and returned again with a cruel blow. Even though the pattern was confusing, I was beginning to make some valid connections between my health, my diet and my menses, however, my physicians were unwilling to listen to my observations. Although their irresponsiveness was frustrating, I could not blame them. Absolutely nothing out of the ordinary was ever viewed on a regular urine or blood test. Also, with one exception, my physicians at that time were excellent, compassionate doctors, who were baffled by a rare, elusive illness.
It is important to remember that I had not been diagnosed yet with Porphyria, and also, my situation was not necessarily the same as other women who suffer from one of the acute Porphyrias. As I mentioned earlier , some women fare very well during their pregnancies and deliver healthy babies, while others experience difficult, even life-threatening problems. Unfortunately, it is impossible to predict which women will experience Porphyria attacks when they are pregnant and which ones will not. However, some Porphyria specialists feel that women with one of the acute Porphyrias are thought to be at twice the risk of an attack when they are pregnant.
Shortly after the tragedy with the twins, I was hospitalized again with excruciating abdominal pain. I did not lie in my hospital bed quietly and suffer in silence. I literally thrashed in the bed night and day, trying desperately to position my body in such a way that the pain would decrease, but there was no such position. The pain pills I was given did not work either. In fact, I was sure that the varied combinations of medicines I had been prescribed only made my pain exponentially worse . I tried desperately to enlighten the doctors that I was almost certain that the medications were the culprits making my illness worse.
My thoughts were ignored and I was given more medication. since I was already afraid, I only took one pill. By nightfall, I was worse. I reported this to the doctor and refused to take what the doctors offered me. That sort of defiance did not endear me to them and even made our already shaky relationship worse. I was not the kind of complaining woman who thinks I wont get good medical care unless I am the squeaky wheel. Rather, I had a resolve in my spirit and escalating pain in my body as evidence to back up my intuition that the drugs were killing me.
I would never want anyone to think I recomend defying their doctor. Rather, I feel it is very important to maintain a good working relationship and to invest the time it takes to fine one who works well with you. It takes the two of you to discover and treat porphyria. Remember: THOSE WHO KNOW THE MOST .DO THE BEST.

Before the diagnosis.

Wednesday - November 24, 2010 @ 12:19:16

Fortunately, I had then and continue to maintain a great respect for doctors and other members of the medical profession. Somehow, I understood implicitly that there was a missing key to help them diagnose my condition. With that in mind, when I felt better , I returned to my studies and active life as a high school senior and refrained from harboring resentment toward the physicians overseeing my case.

Periodically, during my early college years, I had similar occurrences of the elusive pain and intense weakness. These episodes were bearable and lifted after a week or two as unexpectedly as they appeared. On the occasions that I did have symptoms of the mysterious illness, I incurred the same problems as I previously had experienced. Despite heroic attempts to diagnose me, the physicians could not find anything wrong on their standard lab tests; thus I was once again perceived as a young woman who exaggerated her medical condition.

The next few years were intermittently healthy ones for me. Until I married and had my daughter, Lelia. At that point , the same series of of symptoms began to occur but I I ignored most of them as best I could and concentrated on my baby . I enjoyed motherhood in spite of my health difficulties and often mistakenly chalked up my bouts with the strange ailment to the demanding activities required as the mother of an infant and then toddler. I pressed forward in a determined fashion but there was a difference between me and my friends. But they seemed to be able to interact with their children with a wellspring of energy and rarely commented on being exhausted. I, on the other hand, had a few healthy days, but I was most often at the point of physical collapse. To combat my frequent periods of exhaustion, I overloaded on coffee, peaches and cookies throughout the day. Caffeine from the coffee was the stimulant I needed to stay alert. The cookies gave me a boost of energy and improved my sense of well-being, while the yummy, super-sweet peaches made me feel I was doing something healthy. Interestingly, I learned years later about the glucose effect in the acute Porphyrias and that I was responding to my bodys yearnings for carbohydrates.

One of my biggest problems was that I had the hypochondriac tag placed on me because no matter what tests a doctor gave me, I was NORMAL. Thus, , I slipped into my same secretive wariness because I didn't want the doctors to assume nothing was wrong with me. Instead I was VERY SICK. I am sure this has happened to most of you.

The Beginning.

Wednesday - November 24, 2010 @ 11:47:05

I was only seventeen years old when I suffered my first attack of porphyria. The attack commenced with mild pain in my lower abdomen and quickly intensified to the unbearable point. When my parents realized that this was no normal illness, they raced me to the nearest emergency room. By the time we arrived, I was so ill that I had to be helped from the car into the clinic and was placed ahead of the other patients as the number one patient on their triage list.
The physician and several nurses rushed to my cubicle and initiated an emergency examination. After the doctor determined that I was not dying, he began taking the perfunctory medical history. I tearfully whispered that I was in far too much pain to respond to his lengthy list of questions. He was quite sympathetic and asked if I could at least describe my symptoms. I was embarrassed to sound like a melodramatic teenager, but I proceeded by telling him that my pain felt as if someone had pierced me with a thousand flaming swords and had left them deeply imbedded in my abdomen. I continued by explaining that I was also experiencing such weakness that it was difficult to breath or lift my arms and legs.
Despite what others would have thought were youthful histrionics, the emergency room doctor did not dismiss my seemingly exaggerated complaints. Instead, he listened intently and continued with a more thorough physical examination.
The only outward evidence of my agonizing inward state was that my abdomen was extremely distended and hard as granite. After the doctor felt my huge abdomen, he advised me that I might require emergency surgery. The pain was so severe that I cried out that I was ready and hoped a surgeon could operate right away.
As soon as he finished my examination, he explained that he would have to leave for a few minutes to order a few more tests. True to his benevolent nature, he reassuringly added that he was requesting that the reports be returned to him immediately so that he might be able to diagnose my condition quickly and treat my pain as soon as possible. Before he left my cubicle, he gave me one of those pats on the arm that are supposed to signify that everything will be fine soon. His gesture was kind and sincere, but I was so overwrought with pain that I knew then that whatever ailed me was serious business and that the compassionate doctor would find out soon enough.
The doctor had just returned to my curtained off cubicle when the clerk brought him my lab results. He reviewed them carefully and appeared perplexed at what he read. He showed me the report and pointed out that the results of the tests were normal in every category and, therefore, did not provide information that could help him determine what was causing me to suffer such severe symptoms.
I gaped at him in desperation, terrified that he and his colleagues would not be able to relieve my horrendous pain. Seeing my anguish, he comforted me by assuring me again that he would first handle my pain and then admit me into the hospital to seek an answer ot its cause. In the meantime, he promised that he would contact the best gastroenterologist on the hospital staff and that he would surely shed some light on my ailment. He also promised to advise the physicians in charge of my case that I would need adequate pain medication and adequate meant more than a hefty dose. Astonishingly, he did not mention exploratory surgery again and neither did I.
Before finding myself in this new health predicament, I had never experienced a sickness that required much more than aspirin, antibiotics and mothers cold rags. At that point, those measures would have been like using a using a tricycle to go around the world. They were far from what I needed to relieve the horrendous pain. Nothing took precedence over pain relief. I was more than insistent about needing the pain medication to the point of begging every person in a white uniform for help.
Fortunately, I was admitted into the hospital promptly. As I was being wheeled to my hospital room, the reality of my situation hit me full force, and I started crying uncontrollably. I was convinced that I was going to die from an undiagnosed ailment before I ever experienced life on my own as a grown up.
Im sure its not possible for a human being to suffer this kind of horrific pain and live through it, I sobbed. The nurse beside me offered the same assurances as the emergency room doctor. Dont worry, she said, Well find out what is wrong with you, but until then, the shot I am going to give you in a few minutes will take over, and youll feel much better.
One big hypodermic later, I was no longer writhing in pain, but I was still conscious of it. The horrendous agony clung relentlessly to my lower abdomen like an imaginary demon hanging on for dear life and wrecking havoc in the process. The rest of my body ached much like a bad case of the flu. Although the weakness continued for weeks, the fierce pain and feeling that I had influenza abated within the next few days. At the time, I thought that the whole ordeal was over never to return---or was it ?.

The APF welcomes YOU

Wednesday - October 27, 2010 @ 15:14:41

The American Porphyria Foundation ( APF) welcomes you to our new blog, Purple Light . The APF website is an educational explosion of information. The Blog will be the place where we weave pertinent information within the context of a human interest stories, yours and mine.

My name is Desiree Lyon Howe. I have been with the APF since day one when the APF began as an idea of mine and my friend, Jim Young. In the early 1980's, Jim and I met through several porphyria experts, namely, Dr. Claus Pierach and Dr. Karl Anderson. Just meeting another person interested in porphyria made such an impact on both of us that we felt that starting a foundation for people to learn more about the disease from experts and have the means to communicate with one another would be an important service to others who suffered with porphyria or had it in the familyt.

We discussed the concept further and settled on a name , the APF. Then we set about creating a plan that incuded selecting a Scientific Advisory Board as a first step. Without the most esteemed porphyria doctors in the country as our guides, we would not have the kind of recognizable standard we needed to have patients and their physicians pay close attention.

It was not hard to locate the best experts in the country. There were only a handful but they were all brilliant and world renonwn physicians and researchers. Imagine !!!!! That same group is still with us today.

Next we set up an office, which was my kitchen table and created our membership list which was comprised of two people, James and me. We are a long way from that now with a staff of five in Houston, one in Chicago and several more throughout the country. Plus, our two members has expanded to four thousand members and sixteen hundred doctors who want to be part of the APF. Our educational programs and services for patients and physicians are award winning. Our Protect the Future program to train the next generation of experts has become a model for other foundations and institutions , as as has our our In Touch support system. Our research projects are increasing , our govenment funding has increased and our social networking has helped spread our message tremendously. All of these services are a result of us working together.

Next week, I will begin the APF blog by sharing a bit of history and a few very intersting stories of the 15,000 people I have communicated with via the APF. Until thenKeep in Good Health !!!



The APF is all of us.

Welcome.

Wednesday - October 27, 2010 @ 15:03:36

Welcome to the American Porphyria Foundation Blog.

With all the information on the web sometimes it can be tough to get the "straight scoop". To that end the APF (American Porphyria Foundation) will be providing content and information to assist everyone that suffers from any of the 8 sub-diseases that Porphyria includes.

We are here for you :). Talk to you soon.