My mom asked me whether I felt up to doing something on the weekend. I did an internal check, and told her my pain level was pretty low, so I should be okay. She frowned and asked what pain? I discovered that day that not everyone measured their level of fatigue by how much pain they were in. I always had.
I had to drop out of college in my junior year. I tried again, a year later, and had to give up. I worked at various jobs until I finally collapsed, unable to stand, and it was weeks before I could walk properly. I blamed myself for almost two decades, for being weak, for not trying hard enough.
I stopped telling doctors that I was in pain because they always seemed unsatisfied when I said "everywhere". The pain scale was useless when zero did not exist. After the sixth or seventh doctor who ran the same tests and got normal results, I just stopped talking about it.
I applied for SSI, finally, when I was about to turn 40 and it was obvious I would never be able to work more than occasionally. The system was designed to be full of difficult hurdles and deeply humiliating. I was grateful to the judge in front of whom I finally appeared, for actually listening, and treating me like a human being. The tiny stipend I finally received was an incredible relief.
I was referred to Stanford to see someone about my Chronic Fatigue Syndrome, which had kneecapped me in college and dogged me for twenty years. A few new tests showed abnormal results, my first. A couple of viruses, and elevated inflammation... A single pill, which did nothing, until I realized I could hike five miles and feel just a little sore in the days afterward. The chronic pain was still there, everywhere. I was still tired, but I didn't crash anymore. We decided to work on the inflammation. Five meds later, I had nothing to show for it but a row of unused pill bottles and some more adverse-reaction stories to add to my collection.
I had donated my genetic sequence to a CFS study, and decided to take a look at possible metabolic disorders. A friend thumbed through the data and sent me a half-dozen gene clusters which I had double-recessive alleles in. I ruled out two, decided one (G6PD) was likely but didn't explain the chronic pain, looked through the literature on the others, and decided that the easiest place to start was one I could test without a geneticist. I bought some arginine and cut protein out of my diet.
It was very strange and lopsided, for a facultative carnivore, but in twelve hours I knew something was different.
In 24 hours, I was in less pain than I'd been in all week.
In 48 hours, I was in less pain than I'd been in all month.
In 72 hours, I was in less pain than I'd been in all year.
I had found the culprit. More tests would have to be done, and some doctors would need to be convinced, but I was almost certain. Almost two months in, I'm sure. I have some flavor of urea cycle disorder.
The urea cycle is what breaks down protein into amino acids. About eight malfunctions exist; most of them result in a buildup of ammonia in the body, as it can't be converted properly to urea to get pulled out by the kidneys. Ammonia can cause all kinds of havoc, including (apparently) chronic pain.
As a group, urea cycle disorders are estimated at about 1 in every 35,000 people.
As a group, urea cycle disorders are estimated at about 1 in every 35,000 people.
So far, the doctors haven't argued much. That may be a testament to how hard I've worked to find medical professionals who actually listen, or it could simply be that most have never heard of it. My GP nodded, said that was interesting but she knew next to nothing about it, and issued referrals to a dietitian and a geneticist. The dietitian had never seen mention of it, but didn't contest my results. My CFS specialist was fascinated and eager to run a couple of tests to nail down the diagnosis. I'm still waiting on a geneticist.
I decided to start this blog to try to collect my experiences and whatever useful information I can find. Since much of the literature and advice available is for infants, I've had to rely on the (still scant) information intended for adult sufferers of phenylketonuria (PKU). They can't have whole protein either, but for different reasons.
I have twenty years of experience dealing with food sensitivities (thanks to a solvent injury, leading to several food intolerances), I've been wheat-free for a couple of decades (that was one of the sensitivities I acquired), and I have a background in biology and diagnosis, so I'm ahead of many of my fellow UCD zebras already. I'm winging it while I wait for the medical professionals to catch up, and probably breaking new ground. I'm used to that. Ever since the first time a doctor gave me that look as a teenager -- that "I don't know what to do with you" look -- I've been training to be my own specialist. I'm pretty good at it by now. I hope what I find can help someone else as well.
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