I am a physician who was diagnosed with acute intermittent porphyria at age 39. In September, 2013, I became very sick over a period of a couple of weeks. When my abdominal pain was completely intolerable, I ended up in an emergency room. I was admitted to the hospital and many tests were done including CT scans, ultrasounds, colonoscopy and endoscopy which were all unremarkable. Nobody at the first hospital thought of porphyria. After many other tests were unrevealing, the doctors began to doubt me, quit treating my pain and discharged me home seriously ill without a diagnosis. I was in such severe excruciating pain that I went to a different emergency room less than 24 hours after leaving the first hospital.
The experience in the second hospital was very different. My pain was immediately treated very aggressively, and I was admitted to the hospital with the promise that the cause of my symptoms would be figured out. The admitting internist, who is of course now my primary care doctor, consulted many specialists to help. The doctors involved listened to my symptoms and most importantly, believed what I was saying to be true. I continued to decline and within a week, one of the doctors thought of porphyria. He called the American Porphyria Foundation to determine the proper tests needed to diagnose an acute porphyria. My condition had become very serious by the time I was diagnosed. Very soon after diagnosis, a PICC line was placed and treatment with Panhematin began. I felt so much better after only a couple of infusions. I was close to death by the time I was diagnosed and certainly would not be alive today had I not met my internist and had I not received Panhematin timely.
Over the next few months, I spent much of my time admitted in hospitals as I continued to have continuous attacks. I eventually had a power port placed. Dr. Karl Anderson, renowned porphyria expert, led my care and suggested weekly infusions of Panhematin. Eventually I was able to stay out of the hospital with the weekly infusions. Unfortunately, due to the severity of my disease, I have chronic nerve damage and suffer with daily symptoms. As a physician, I never thought I would find out firsthand at such a young age what it is like to be the patient. Because of the severity and chronicity of my symptoms, I was unable to continue working. Now I have a new understanding of what it is like to be trapped in a body that is continuously sick and in pain. The American Porphyria Foundation has been such a huge support for me. I called the APF immediately after diagnosed and was given direction. I continue to get much needed information from their very informative website. I have participated in several research studies and plan to continue to do so. I remain hopeful that someday I can have a better life than I do now. I strongly believe in advocacy, awareness, and involvement in research.
"He who conceals his disease cannot expect to be cured." -Ethiopian Proverb