By David Gibson 2014
"Pain was the simple explanation, but pain without an underlying cause is hard to understand. I was experiencing pain in my hands … just gripping the handle bars on my bike was hard."
My childhood was typical: I had friends in school, I played some sports, I rode my bike a lot… Then, one spring day my bike rides started to change.
I tried telling my mom what was happening, but it was hard to explain.
Pain was the simple explanation, but pain without an underlying cause is hard to understand. I was experiencing pain in my hands…just gripping the handle bars on my bike was hard. I didn’t used to have this pain, and I didn’t do anything different…so why did it hurt so much? I found myself taking breaks from riding because of the pain; I would stop at the side of the road on my way to my friend’s house and rest – that would help the pain go away. And then I would make my way to my friend’s house, we would have a good time, and I would make it back home. Maybe it was a little late getting home, but that was how I coped with the pain.
When the pain started in my feet, things got tougher. I couldn’t always just stop and sit to rest. The summer heat would make it worse, or make it happen more often anyway. I tried to keep going, but often couldn’t. My mom took me to the doctor and after taking x-rays of my feet he explained the cause of my pain: “growing pains.” The doctor explained it all on the x-rays and pointed out the source of the pain -- my joints. It was just one of those things kids go through and some had it worse than others. The good news: it would go away in time.
Ok, growing pains, it would stop—that’s what I held on to. Complaining didn’t help, so I stopped talking about the pain, and when the pain came back I would go home and rest. After all it would go away in a couple hours and I could return to what I was doing, as good as new again. “Lots of kids must go through this; if they could deal with it so could I,” I told myself.
When I was 12, we moved to Marion, OH. My new school was okay. I made new friends and I started playing on the basketball team. I had learned to deal with the pain, and when it was too much to bear resting did the trick; but my stomach issues were another matter. My stomach started to hurt as well, and I couldn’t hide the number of bathroom breaks I needed: the diarrhea was terrible forcing a dash to the toilet 10, 15, 20 times a day. Thankfully these stomach issues didn’t happen a lot, but when it did it would last weeks.
My mom was concerned about these stomach symptoms, and so was the school nurse. So we went back to the doctor. Crohn’s disease was suspected and ruled out. This time, no explanation was found. Again, not complaining was the best answer for me. The ‘just grin and bear’ approach kept me out of the of the doctor’s office and free from undergoing more tests. Do your chores and be stoic--that was the way things were handled in my family.
One of the chores I hated the most was mowing the lawn. We lived in the country and had a big yard. The vibration from the mower would drive my hands crazy. For some reason, it would make my hands ache and the pain would go up to my forearms. I would go in the house, get a cool glass of water, and rest until the pain stopped. Unfortunately, my hands would keep feeling like they were vibrating. We also had a wood stove and I had to help my dad carry the wood and split it into smaller pieces to fit in the stove. Dad would often find me sitting on the wood pile, but he didn’t understand why I needed to rest. After all, I didn’t get hurt and I hadn’t broken anything.
I was 14-years-old when I learned that there was this health problem some of my family suffered from. My grandpa and his brothers had it, and some cousins had it as well. My grandpa died at 53 from it. My cousins with the condition -- called Fabry disease -- would get really sick and sometimes need to go to the hospital. They would suffer terrible pain and be unable to do anything for days.
I wondered if I had Fabry disease. I knew my family members who had Fabry had to be very careful about going out in hot weather because they perspired very little (hypohidrosis) or not at all (anhidrosis) and it put them at risk of overheating, getting sick, and triggering terrible episodes of pain.
The not sweating part didn’t sound so bad to me; I didn’t like getting all sweaty, but getting sick and being in pain sounded much worse. Also, they couldn’t play sports and exert themselves because it triggered episodes of pain – they had a note from the doctor that gave them permission to sit out Phys Ed class. I was told they would suffer like grandpa and his brothers did when they were younger. They would have terrible episodes of pain in their hands, feet, and sometimes all over.
I could deal with my pain. And I could play sports, and I was strong and could lift weights better than the football players at school. The football guys didn’t like that, but I didn’t care. I had a girlfriend. I was like the other kids. I didn’t have Fabry disease; my mom would have known if I did.
After graduating from high school and getting a job, my girlfriend and I got married. We had a wonderful little baby girl and were a family now. Unfortunately, my health issues persisted. Those “growing pains” I was supposed to grow out of were still with me, and they seemed to be worsening. I needed to take breaks at work sometimes because my hands and/or feet would hurt. I was still having episodes of stomach pain and frequent diarrhea. Sometimes, when it was really bad I would lose weight and my appetite would be off for a while. The cramping and stomach pain could get pretty extreme and they brought on bouts of vomiting too. After these spells of gastrointestinal problems passed, I was always able to gain the weight back. Even with these problems, I thought I got by pretty well most of the time.
I didn’t complain or say much to my family, but my mom knew I was still struggling; she started to question if I too had Fabry disease. One of my cousins was going to a hospital in New York City to be evaluated by health experts who were going to run a full battery of tests. He told the doctors about me and my symptoms, but they told him I didn’t have Fabry disease because I could sweat normally. After repeated visits and meeting another patient who was able to sweat and whose symptoms were similar to what I was experiencing, we decided that I get tested for Fabry disease. A blood sample was drawn at a local doctor’s office and was sent off to New York. Finally, after three weeks, the results came back: I was positive for Fabry disease. My mom cried and said, “Well, now we know.”
I was 22 when the health experts thought someone who sweats normally couldn’t have Fabry disease, and five years later I learned different. Even though my symptoms were somewhat different from what my relatives with Fabry experienced, we all had Fabry disease and the exact same mutation. I learned that Fabry disease is an inherited lysosomal storage disease that results when the body can’t produce enough of a certain enzyme called Alpha-Galactosidase A (or alpha-Gal). Lots of different mutations on the gene for this enzyme have been found and they usually run in the family. I also learned that my symptoms weren’t really all that different from my relatives’; my symptoms weren’t quite as obvious, and I didn’t help matters by not speaking out about my suffering. It turns out the pain in my hands and feet were caused by neuropathy; even my episodes of stomach pain and diarrhea were the result of my nervous system being impacted by Fabry disease.
Normally, the enzyme alpha-Gal is supposed to break down a fatty lipid named globotriaosylceramide (or Gb3). In people with Fabry disease (whose bodies do not produce alpha-Gal), Gb3 builds up in tissues such as the lining of blood vessel walls, the heart, the kidneys, and the brain. The build-up can make the blood vessels narrower, making it difficult for blood to pass through. And, over time, it can cause life-threatening complications such as kidney failure, heart attack, and stroke. It was the kidney failure that my grandfather and most of his brothers succumbed to. Fabry is on the X chromosome and it was thought that women would not suffer from the disease, but now we know women can suffer as well – sometimes, just as severely as the men. My mother and all her sisters have the disease and they suffer heart and other problems.
Fortunately, when I was learning about Fabry disease, there was a clinical research study evaluating a possible treatment -- called Fabrazyme -- that replaces the missing enzyme in patients with this progressive disease, and I was able to get in to the study. There were lots of trips to the hospital in New York and lots of tests.
It was five years before the FDA finally approved the treatment. I was fortunate to be receiving this treatment during most of that time. Fabrazyme is basically the same enzyme, alpha-Gal, that my body is not able to produce. I receive the treatment via an intravenous infusion over a span of two hours every two weeks...and it helps tremendously.
I still have health issues, but my organ functions have stabilized because of the treatment. And, unlike many of my family members who suffered terribly and died from complications like kidney failure, I have a fighting chance. Researchers and drug companies continue to work on developing new treatments, and gene therapy is being investigated as well. Perhaps a cure will be possible soon. The future is full of hope, so maybe this disease can be beaten before too long!
http://www.neuropathy.org/site/News2?page=NewsArticle&id=8601&news_iv_ctrl=1101
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