Misdiagnosis Adventures

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 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.
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.

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 body’s 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.