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Acute Intermittent Porphyria (AIP)
At one time I thought of myself as unique ... alone. Confusing and scary symptoms ruled my life. Then Dr. Paul said, “Jack, the test is back, and you have that disease we talked about.” I was stunned. Earlier, while I was waiting for test results I had done my homework and learned how few people have this condition and how devastating it can be. I couldn’t really have it. Could I? Paul continued, “It’s really rare, so we’d better test again just to be sure.” Ten days later the results were the same; “Jack, I’m sorry. It’s confirmed; you have a rare disorder called Acute Intermittent Porphyria (AIP).” I asked him, “What do I do, Paul?” He replied, “I don’t know.”
That was not the end but rather, as it turned out, the beginning of a new life. A life of answers to my decades old health questions, and one of learning new life style techniques that would enable me to live with this mysterious disease that has perplexed physicians for centuries.
Although AIP seldom becomes apparent before puberty, as a child I suffered from strange neurological symptoms that baffled the best doctors and child psychologists my good parents could find. No one disputed that I was sick; it was just that they could not understand what ailed me. Phantom pain often shot throughout my body but usually focused in my abdomen. Loss of coordination and periods of confusion were not uncommon. A tonsillectomy was disastrous as I was so very ill after the operation and extended hospital stay was in order. “Some kids respond that way to anesthetic said the doctor, he’ll be okay.” Several years later an appendectomy had even worse results. Many days were spent with abdominal pain, vomiting, diarrhea to an extent that no one could understand. Finally, my reaction was summed up as an allergy to anesthetic and there wasn’t much to do about it.
Time went on and strange neurological symptoms accelerated. The doctors felt it was best to put me on Phenobarbital! That drug can be a disaster to anyone with the acute porphyrias. Symptoms got worse and x-rays of my head showed no abnormalities. “Keep him on the Phenobarbital” the Doctors said, “things will get better.” Actually, things got worse. These were the days before MRI or CAT scans so physician’s options were limited. One neurologist recommended a cerebral ventriculogram to search for a brain tumor. This process entails drilling holes through the skull, whereupon the cerebrospinal fluid from the brain ventricles is replaced by air. Then a radiograph is taken of the head in a search for tumors. The test result was negative and again the recovery from the anesthesia was very difficult. This time there was discolored urine, but no one noticed.
I returned to sixth grade, and as is with kids, some were be cruel. They were intimidated by my shaved head and scars, and shunned me in ignorance. Others called me, “Frankenstein.” It hurt to hear these words.
Before I was out of grammar school, I was poked and probed by so many different physicians, neurosurgeons, psychologists, and psychiatrists that I was beginning to believe that something was really wrong with me! Still, I was fortunate to have good parents who encouraged me to enjoy a full life. I moved on into High School where the symptoms and various treatments persisted. I was a fair student and a better than average athlete in track and field, as well as football. I had many varied interests outside of school. But still, the same episodes arose periodically and impinged on my life, social and scholastic development.
College was a disaster. Playing football in my freshman year was not easy, because I experienced more and more “short circuits” that hampered my ability to concentrate. Although I never used drugs, I sometimes appeared to be “spaced out.” I dropped out. Although I felt this was a life failure, I’m blessed with a strong ego, so undaunted by problem, I moved forward. I got a job and married my grade school friend and high school sweetheart. We started a family. Thankfully, Margaret, my greatest gift, still stands by my side.
Like so many people with Acute Intermittent Porphyria, my life has been a series of peaks and valleys. When I was well, I could perform with the best of them. I continued my education at night school, often working two jobs, so I prospered when I could. However, at times I crashed, and when I did, it was in a big way. Pain, confusion, feelings of being disassociated from others, including my family, all combined to create a lot of uncertainty and anger in me.
Doctors continued to poke and prod, always having theories about a diagnosis but never finding anything upon which they could base a diagnosis, including results from the MRI’s and CAT scans. In addition, no one, including me, paid any attention to my discolored urine. When asked about it, I naively said “I’ve had that all of my life,” which was enough for medical professionals to discount it.
At age 37, I was still playing full contact club football and had the inevitable knee injury. I needed an operation to correct the injury. When I woke up from surgery, I prayed that someone would shoot me! Forget the knee! My abdominal pain was all consuming. I vomited until there was nothing left. Then I just heaved in dry convulsions. The catheter was draining a dark liquid. I was tough, I was in shape, I screamed, I often just passed out. In a week or so, it was over. The doctors said they were mystified, “Some people don’t react well to anesthesia.”
Like my physical life, my professional life was also a rollercoaster. When I was well, I was on top. After being hired, I usually rose rapidly within an organizational structure. When I was ill, these same organizations had little tolerance for me. Then I had to start over. My wife is loving and dedicated, but the stress on her was and still is immense. I continue to feel terrible guilt for everything she has endured. However, her faith in me gave me incentive to try again and again and I did. Working through the pain and hiding many of the symptoms enabled me to eventually rise to high middle management.
Disaster! I stopped and turned sideways in my seat to with a US Customs Official at the Canadian Boarder when I was struck from behind by a drunk driver. That’s a sad story that is told far too often. The resulting cervical spine injury partially paralyzed my right side. The doctors said that the neurological symptoms were greater than the injury would suggest. The neurosurgeon said he could repair my neck, but I had developed extraneous symptoms, like Diplopia (double vision) which made even the simplest tasks difficult. They gave me an eye patch to temporarily “fix” the problem.
I suffered a great deal of memory loss and slurred speech, too. I felt as if I was in a fog. The doctors again said these symptoms did not match the injury. I was also having periods of blackouts where I lost time, sometimes hours. The doctors this suggested this might be caused by mild seizures. Still no one paid attention to my discolored urine. The symptoms so confounded the doctors, neurologists, and neurosurgeons that they just stabilized my neck and deferred my surgery pending further diagnosis.
Again, I was poked, prodded, psychoanalyzed, MRI’d, CAT scanned, and subjected to every test two prestigious neurology clinics and one renowned epilepsy center could administer. Of particular note was a time when I had electrodes implanted under my scalp, which was hard wired to a computer. I was sleep deprived for 4 days in an attempt to provoke an epileptic seizure. That same clinic evaluated me for several other rare disorders like Episodic Ataxia, but every test was negative. Their psychiatrist diagnosed me with a psychosis and recommended that I have a period of hospitalization to treat it. He made me feel that I was seriously mentally ill but deep inside I knew him to be wrong. Still no one attached any relevance to my discolored urine.
During this time, my family doctor stood by my side. Paul is a giant of a man standing well over 6 feet tall. He would be appropriate as an NFL lineman but his role was that as a “country doctor”, a specialist in Internal Medicine and Pediatric Care. Watching his huge hands with little newborns is a sight to behold. Experiencing his compassion and unrelenting concern made me strong in times of supreme weakness and to this day I credit him, above all others with helping me through this dark time of my life. Unlike the specialists in the esteemed clinic, Paul patiently listened to me. He helped me explain what my body was feeling. He never once questioned my sanity. He always assured me that we would get to the bottom of these problems.
The August 1995 edition of Discover Magazine had an article that reminded my parents of symptoms. We sent the article to my doctor, he researched AIP, followed a new line of questioning my family history, and agreed the test was simple and should be performed. It came back positive! Just to be sure he ordered a follow up test. It too was positive. We had a diagnosis! It was such a relief to know!
Armed with new information, my neurosurgeon referred me to a hematologist who recommended a specific anesthetic that was deemed to be non-reactive in people with porphyria. Cervical spine surgery was performed and when I awoke I was groggy, but no severe after effects as in the past!
Home from the hospital I started to experience AIP attacks on a regular basis. I also began to research Acute Intermittent Porphyria on the Internet and at a medical school library and found disturbing information. First, at that time there seemed to be precious little substantive medical literature offered in a cohesive format. Second, there was a great deal of anecdotal material available having questionable value. Third, folklore and legend surrounding porphyria are confusing and misleading. I clearly needed help and guidance; I was scared and bewildered by this strange affliction.
Enter Desiree Lyon Howe. I found the American Porphyria Foundation website and got their phone number. I called and Yvette Strange put me into contact with Desiree who recognized my difficulty and said, “Jack, I’ve been there, I’ve done that!” She gave me assurance that life can continue with AIP and over time taught me how to live it. We became friends and that friendship endures. It’s through her example and counsel that I learned to live with this insidious disease. It’s because of her that I continue to support the American Porphyria Foundation and assist it in any way I can. The Foundation’s information is always pure and obtained from verifiable sources. I’m proud of any role I can play within it.
The doctors now say that I suffer from peripheral neuropathy that is steadily progressing. The AIP, the cervical spine injury, and diabetes all combine to cause this neuropathy, but they can’t determine the primary cause. I can live with treating each ailment separately, and looking to the future. It took me seven years of physical therapy and exercise to get to the point where I can walk without some kind of assistance. However, a cane is occasionally necessary as I still experience right side weakness and pain is a constant companion.
Since receiving the diagnosis of AIP, I’ve lived in the West, in the South, and now reside in a Mid-Atlantic state following my Margaret’s career moves around the country. In every locale, I had no problem finding a physician ready to take on the task of helping me manage Acute Intermittent Porphyria. As soon as I arrive in a new place, I call the Physician Referral Service at the local hospital. They, in turn, send out inquiries to their staff and quickly locate a doctor. No fuss, no bother. The experts at the American Porphyria Foundation are also just a phone call away in case a porphyria expert referral is needed.
So, in all, what have I learned? If you’ve got a good spouse, treasure that situation. Also, as a patient, realize how difficult being married to someone with a chronic disease can be, so be kind in return. Listen to your body, it’s usually right, but it talks in subtle tones at times. Don’t forget to tell your doctor and nurse every message. Listen to your doctor; in most cases, he or she is right. Take responsibility for your life. Hey! With porphyria, you’re not dead, you’re just sick and attitude is everything. So “Live Large!” and always try to have some fun, no matter how bad you’re feeling. Watch a comedy show, plant a flower, write a letter to a friend, do something positive. Think on this old traditional Irish blessing!
May the raindrops fall lightly on your brow
May the soft winds freshen your spirit
May the sunshine brighten your heart
May the burdens of the day rest lightly upon you
And may God enfold you in the mantle of His love.
