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Tuesday, January 18, 2011

My First Support Group that Grew Into the APF

Like most good ideas, the American Porphyria Foundation, began out of necessity, namely I was terribly lonesome and needed someone with whom I could communicate about porphyria. When I first arrived at NIH, I was the only patient who had Porphyria on the metabolic wing. I yearned to meet someone else, so I could talk with them about their experience. Although there were a few other patients on the wing, I could not identify with their symptoms as they were so vastly different from my own. However, I could identify with their feelings of isolation and anxiety on one hand and their feelings of gratefulness for each new day.

One morning, Dr. Lamon came into my room with the news that two more Porphyria patients had arrived that morning. Valerie was an Acute Intermittent Porphyria (AIP) patient from Utah, and Maureen was a patient from Baltimore, who had Variegate Porphyria (VP). Both had been patients at NIH for treatment on several other occasions. We met within hours of their arrival at NIH. I did not feel that I should interrupt them, because I did not know if they were very ill or there for a research project. I had learned during my times in the laboratory that some patients returned to NIH to participate as volunteers for specific research projects. I was anxious to meet them whatever the case may be.

On my daily walk around the halls on our floor, I got my chance to meet them. They too were roaming the halls of the metabolic wing, and we greeted one another in passing. It did not take us long to introduce ourselves, strike up a conversation and discover that we had the diagnosis of Porphyria in common.

Rather than gab on in the middle of the hallway, we quickly searched for a quiet place to sit and discuss our respective cases. It was soul soothing to be able to compare symptoms and treatments, discuss our emotional states, share our yearning for our families and talk about the ways in which we were able to cope with our illness. Like most patients with a rare disorder, we felt as if we were the only ones in the country suffering from this rare disorder. The opportunity to meet each other and then mutually support each other was crucial to our improvement. For me, it was important to see other patients who were still alive several years after their diagnosis. Although I had read a great deal about the disease and knew that patients could live long lives after attacks, I was wary that this was not true, particularly since my symptoms were so harsh. Gladly, I had two examples of living, breathing, happy individuals to prove that it was the truth.

Valerie was the mother of several children and, like me, was depressed over not being with her offspring. We comforted one another with photos and stories about each child. Our interchanges helped both of us bear the long days without them. Valerie also had AIP like me, but she had been diagnosed for five years. This helped me considerably. I told her that she was living proof that AIP was not a degenerative disease and that a person could have a relatively normal life when the disease was not active. Mostly, I was glad to see that she was alive several years after her diagnosis.



Maureen was single and was in the process of becoming a nun. The three of us spent long hours talking about the Lord and the Bible, thus fulfilling our need to share what was happening to us spiritually, as well as physically. Those conversations were more valuable than we fully understood. By sharing many of the powerful promises in the Bible, we were empowering ourselves. Each of us was responsible for bringing a passage to our daily meeting, like “bear one another’s burdens” or “God is a very present help in time of trouble.” I had heard from years listening to sermons in church that the spoken word is very powerful but I did not understand how powerful until we began to take those words and repeat them until they became alive in our souls.

In the course of my many conversations with Valerie and Maureen, we agreed that what was needed was a patient education organization to distribute understandable information on Porphyria and act as a point of contact and support system for other patients. At that time, nothing was available in the way of patient information other than a very basic print-out that Dr. Lamon gave me and my own handwritten pamphlets. Our many discussions precipitated the thought that I might have my more comprehensive educational information for patients approved by Porphyria specialists and then used as the first brochure for a support network. This thought flickered at my mind’s edge until on the early gentlemen I met gave birth to the American Porphyria Foundation a number of years later. I hope most of you understand the importance of sharing your experience. In time, we will open the blog up to others to share their stories or comments.

Thursday, January 6, 2011

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


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 won’t 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.