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Kirsten Crook

The Doctor told my family that "sometimes people just have to live with abdominal pain."

August 2005...I had to come home early from work because I had an awful backache. Throughout the evening it seemed to get worse and it was hurting more on my right side than the left. That night I couldn’t sleep because I was so uncomfortable and I was start-ing to worry that it was my appendix. First thing in the morning I called my doctor and was able to see him later that morning. My doctor ordered a MRI and called me with the results…kidney stones. I was told to stay in bed and drink lots of fluids until I "passed" the stone. But, I never did pass a kidney stone.

I eventually felt better and after a few days I was back at work. I had a follow-up ap-pointment with an Urologist who told me that he didn’t know what had caused my pain but it wasn’t from a kidney stone. I left his office angry and confused. If it wasn’t a kid-ney stone then what was it? I thought the Urologist was crazy! Little did I know that he was right. But, I wouldn’t figure that out for another two years.

November 2005...I was feeling nauseous and having extreme pain in both my back and my abdomen. I had to leave work early once again. By the time my husband got home from work, I was doubled over in pain. I couldn’t even walk. We went to the emergency room. My blood pressure was skyrocketing, and my pulse was high. I thought it was an-other kidney stone and the doctors thought it was my gallbladder. After being admitted and days of testing, they decided I needed to have my gallbladder removed. However, they had to postpone the surgery multiple times because my blood pressure just wouldn’t go down and my pulse was way too high. Also, my sodium levels were extremely low, and they were afraid that I was going to have a seizure or go into a coma. The doctors were baffled. I was put under the care of a cardiologist because they started to believe that something was wrong with my heart. More tests. Finally, after about five days they were able to get my blood pressure under control and my sodium levels closer to normal with medication and continuous morphine for the pain.

The surgery went as scheduled. My gallbladder was removed and a day later, on Thanksgiving Day, I was allowed to go home. I was off work for about six weeks. I had just gotten so sick while I was in the hospital that it took me that long to get well. Seven months passed by and although I didn’t feel top notch, I was feeling a little bit better. Thinking that my gallbladder must have been the problem, I hoped I was on the road to recovery. Wrong!

July 2006…I was once again having severe abdominal pain…back to the emergency room we go. I was admitted to the hospital again. This was when I was introduced to my Gastroenterologist. He had absolutely no bed side manner and my family and I hated him from the beginning. He ordered more tests. My blood pressure was once again out of control along with my heart rate. My sodium levels were low again. I don’t even re-member how many MRI's, CAT scans and ultrasounds were done. Every test came back normal. I was receiving morphine for the pain. I felt terrible. I had lost a tremendous amount of weight since the first attack a year earlier. I couldn’t eat, sleep or think straight. I was starting to have panic attacks and high anxiety. The doctors were starting to believe that this pain was "all in my head".

The GI doctor began to think I was just a drug seeker. He told my family that "some-times people just have to live with abdominal pain." That was a terrible day. I knew I wasn’t crazy…I knew I wasn’t making this up….or was I? I began to question my symp-toms myself. After five days in the hospital and no answers I told my doctor I wanted to go home. I could stand being there anymore. I was reluctantly released by my doctor and went home to recuperate. I was home 3 days and the abdominal pain was back. I happened to have a follow-up appointment with my GI physician that morning so instead of going to the emergency room, we went to his office. I couldn’t stand or walk. I had to lay down in a room the minute I got there because I was in so much pain while we waited for the doctor. When he finally saw me he immediately re-admitted me to the hospital. My blood pressure was continuously running around 135/150 and my pulse raced at 120 bpm or so. He said that he had gotten back some test results that showed positive mark-ers indicating I might have Crohn’s Disease. I was once again given morphine for the pain. He wanted to run more tests. This time I had a colonoscopy done…results…normal. I also had to swallow a camera (the size of a pill) because they wanted to see the inside of my stomach and intestines and how well they were digesting.

A day later I had a MRI done to check the location of the camera. It was still in my stomach…by now the doctor said it should have been all the way through my system and in my colon area. I was diagnosed with a ‘paralyzed stomach’. I was told that I would have to remain on a clear liquid diet – possibly for the rest of my life!! I had already lost about 25 pounds and was weighing in at a little more than 90 pounds on my 5’5" frame. I couldn’t imagine surviving on a liquid diet. I was in constant pain. I still couldn’t sleep and now I was being told that I couldn’t eat – not that I was hungry anyways! It was about this time that my husband called a friend of his that was finishing up his residency in gastroenterology. He told him what had been going on with me and asked if he had any ideas on what the problem might be. His friend immediately suggested that I be tested for Porphyria.

The next day my husband pulled my doctor aside and asked him if he had thought about testing me for Porphyria. The doctor said that he was planning on testing me for that next (although we believe he just said that and hadn’t actually thought of it himself). He told us that I definitely was a ‘text book case’ for Acute Intermittent Porphyria but not to get our hopes up, because it was a very rare disease and although he had tested for it many times before he had never had one come back positive. A simple 24 hour urine was or-dered and then we waited for the results. I had been in the hospital about seven days and it would take a few days to get the results. Two days later my GI physician came into my room with the ‘good news’….the test had come back positive. We finally had a diagnosis!!!! It took over two years. And, I wasn’t going crazy…the symptoms weren’t ‘all in my head’!! We were thrilled!! My doctor prescribed three days of Panhematin treat-ment, and I was released about two days later…two weeks total in the hospital.

We started to immediately do research on AIP. We discovered that it was genetic…but, I was adopted, so we had no way of knowing that this rare disease could have run in my family. We learned everything that we could in the coming weeks. I ended up being off work for another eight weeks as I recovered. We began to look for a physician in our area that was familiar with AIP…but, we were having no luck! I was referred from doc-tor to doctor…but no one was experienced in treating AIP. I even had a hematologist cancel a scheduled appointment before I even went in to see him because he told me he didn’t know anything about the disease! My GI physician was willing to treat me but I was his first AIP patient, and I really wanted a physician that had experience with this disease. Plus, I felt like I was his ‘trophy’ patient. He had no real interest in me until I was diagnosed with this rare disease and all of the sudden he wanted my permission to write a journal article on me and my case.

My primary care physician, whom I had seen since I was 5 (I am now 32), had no real interest in learning about AIP either. My husband and I provided him with a wealth of information on the disease, but I don’t think he read a word. I was disappointed. I really thought that the physician that I had seen for 27 years, and whom had treated me along with my GI physician while I was in the hospital, would have taken the time to learn a little bit about this disease that he obviously didn’t know enough about since he never thought to test me for it. He likes to pass me on to my GI physician anytime I have a problem other than a cold. Problem with that is it can take months to get an appointment with my GI doctor. So, what happens if I have symptoms in the mean time? Emergency room bound. After being diagnosed I worked for about two more months and then I went out on disability. The stress of my full time job was triggering attacks and I knew I would never get healthy if I didn’t eliminate that stress. I was also suffering from Ano-rexia triggered by my AIP, depression, anxiety and extreme restlessness. Fortunately, I found a psychiatrist who was familiar with porphyria and understood both the physical and psychological symptoms of the disease. He treated me with medication for my de-pression, anxiety and sleeplessness along with weekly therapy. He also supported my decision to stop working full time and helped me with my short and long term disability claims. I believe it was his care that has once again gotten me back on track and feeling healthy. I understand now that AIP can cause psychological symptoms as well as physi-cal and that it is due to the disease…not because I am crazy.

It took about a year for me to get back to my old self. I have regained the weight that I lost and I have gotten control of my depression, eating disorder and anxiety. I still have symptoms but I feel that I have control of this disease. I have changed GI physicians and if I feel I am on the verge of an attack, I can call his office and they set up Panhematin infusions for me at an outpatient infusion clinic. The infusion clinic has learned how to administer the Panhematin and how to monitor the treatment. My new GI physician is certainly not a porphyria expert but I feel like he is familiar with the disease and is will-ing to learn and, more importantly, listen.

It has been a long road getting to where I am today. I wish all physicians were more aware of porphyria – its signs and symptoms. I would hate for anyone to go through what I had to when a simple test could have prevented a lot of pain (emotionally and physically) and saved us a lot of money. My family and I are thankful that we finally did get the correct diagnosis and that we are learning how to manage the disease. We con-tinue to educate any physicians that we come in contact with about porphyria in the hope that it will help get someone else diagnosed quickly without years of pain and unanswered questions.

Kirsten Crook