I am 34, married, no kids, two cats, and I was diagnosed with Acute Intermittent Porphyria ten years ago. My first signs of porphyria were moderate and then severe belly pain and severe constipation. I first went to the emergency room after five days of worsening symptoms (going in was not my idea, a doctor friend found out what was going on, gave me a talking-to and put me in her car). By the time I got to the ER, I had lost both my appetite and the bit of food I'd tried to eat the previous day. I had also missed the better part of a couple nights' sleep to pain and been unable to focus on anything for several days.
I was treated with enemas and released from the ER twice before my husband and two friends dragged me in a third time, and I was finally admitted to the hospital. It is difficult to describe the embarrassment and confusion of that week. Embarrassing because I was made to discuss my bowels with a series of strangers, and because with every test that came back negative, I felt more like a crybaby. Confusing because until that week I had been a healthy and athletic 24-year-old. With the innocence of someone who had never been touched by serious illness, I assumed this unbelievable pain was the result of a very full gut and pre-menstrual cramps.
When I was admitted to the hospital, I called my parents to let them know where I was: "I just wanted to let you know I'm in the hospital, but I'm okay." The parents among you can probably relate to exactly how soothing that wasn't. I described my symptoms to them, and my symptoms rang a bell with my mother. She called around to some cousins, and called back to say that I might have AIP. I was unaware until then that five or six women in my mother's family had been diagnosed before I was, and that one of my maternal grandfather's sisters had died as a young adult, possibly of AIP.
Because I had such a strong family history, my doctors ordered the blood and 24-hour urine tests that would confirm my diagnosis. Because AIP is so rare, they kept doing the usual battery of abdominal and pelvic exams, pregnancy tests, ultrasound, CT scan and a colonoscopy while we waited for the results to come back from Dr. Anderson in Texas. I consider myself very lucky to have been diagnosed during my first attack. Unlike many other undiagnosed AIP patients, I never had an unnecessary abdominal surgery, and by the end of my first attack, I knew what was wrong with me and was beginning to understand how to care for myself in the future.
I received no treatment for pain during that first attack, so I sweated through it and spent a lot of time awake and extremely unhappy. I learned several years later that my sodium was low enough during that attack to put me on the edge of a seizure, and during my second attack, I had a seizure and spent several days recovering from it in intensive care—low sodium and seizures are classic complications of an untreated AIP attack.
Today I'm embarrassed that I was ever embarrassed by my symptoms. I was sick and in some danger, and it wasn't a good time to guard my privacy. But any patient knows the classic acute porphyria symptoms are not something you itch to discuss with your closest relatives, let alone a room full of strangers. Even now, I sometimes find myself overwhelmed by the minor indignities of life with a rare and difficult disease and resent the need to talk about it.
But I urge others who are newly diagnosed with porphyria to talk to your families and to make sure they know the basic symptoms of the disease and how to be tested for it. Most of your relatives will never become ill or may not have inherited porphyria. It can seem pointless to share your most personal business with people you may not know very well. But you could be saving their lives or sparing them a lot of pain and fear.