September is CMT Awareness Month
As the title says, September is CMT Awareness Month. It seems like every month is awareness month for some horrible disease. I can’t (and won’t) write about them all. But this one is special. CMT (or Charcot-Marie-Tooth Disease) is, according to CMTAUSA.org
“the most commonly inherited peripheral neuropathy and is found worldwide among all races and ethnic groups. Discovered in 1886 by three physicians, Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth, CMT affects an estimated 2.6 million people.”
Before I suggest you support research for the cure for this disease, I’d like to tell you a story. My story.
When I was about five or six years old, I was diagnosed with CMT. It wasn’t a difficult diagnosis for the doctors to make. My father has it. Many of my aunts and uncles on my father’s side have it. And the type we have is not something that tends to lurk within you, rarely showing its face. It begins to affect you when you are young, when your muscles are developing, and your bones are malleable, causing atrophy and deformation. Left unchecked, or in particularly bad cases, it can confine the child (or a the adult if it is late-onset) to a wheelchair for the rest of their lives.
A week after my eighth birthday, I had major surgery on both feet to correct issues that would have eventually caused me to have club feet if not treated. I spent six weeks in a wheelchair with massive plaster casts from the tips of my toes to the bottom of my knees. These surgeries involved muscle and tendon transplants, and bordered on the experimental. I was told (though I can’t say this is true), that I was the second CMT patient in the world to have those surgeries done. The surgery was a huge success. I went from constantly stumbling and falling down, to being able to walk and run (although slowly). I played baseball. I cross-country skied. I did need follow-up surgeries when I was 12 and 16 to correct further issues with my feet and toes, and then had another pair of surgeries last year to deal with my toes yet again, but that first surgery was miraculous.
If you look at me today, standing still, you probably wouldn’t know that I have CMT. But as I begin to move around, you might notice a few things. I tend to lift my knees higher than most people when I walk. The muscles in my feet and ankles have atrophied so that my foot “drops” when I walk. If I don’t lift my legs like that, I’ll stub my toes into the ground and trip over my own feet. The high leg-lift quickly fatigues my leg muscles. To reduce the fatigue, I normally wear carbon-fiber braces for my feet when walking around a lot. If you see me in shorts (without the braces) you’d also notice my ankles are abnormally skinny. My calves look like inverted champagne bottles.
You’d also, after a while, notice my thumbs don’t do a lot. I have about one pound of grip force with both thumbs. A normal adult is capable of around 25-30 pounds of grip force. I tend to pick up small objects between my index finger and the back of the first knuckle on my thumb. It doesn’t always work, but I’ve learned to adapt. Handshakes are somewhat awkward as well, as my thumb tends to be in the way when extending for a greeting. I also have problems holding pens or pencils, especially if they are skinny or slippery. I rarely write more than my name these days. I type everything.
You’ll also notice that my balance is a little shaky. You won’t see me walking the high-steel of a construction site. Heck, you won’t even see me on a balance beam two feet off the ground. My muscles just don’t respond at the rate needed to keep my balance in critical situations.
I’m sure there are other parts of me that don’t work exactly right because of the CMT, but I don’t notice them on a daily basis. I’ve adapted, and, to a certain extent, overcome this disability. Rarely, as a teenager, or a young adult, did I hide behind my disease. In fact, I think I often pushed myself harder because of it. I didn’t want to admit that I had a disability. I played a lot of intramural sports in college—basketball, soccer, softball, flag football. I didn’t play them particularly well, and many times I had to deal with a lot of heckling from friends and from other players who just thought I was clumsy or just plain sucked at sports. I did suck at sports, but I was playing, and that fact exceeded all of the expectations of the doctors who first saw me when I was 8 years old.
As an adult though, I did begin to slow down. You just don’t play a lot of team sports as an adult (unless you are a professional athlete). But I still golfed, bicycled, swam and hiked, played pool and video games (which is actually therapeutic for my hands). It wasn’t the CMT that brought those activities to a screeching halt. It was having twins 5 years ago—twins who, thankfully, do not have CMT. Of course, now that I’m not as physically active, it is harder to stay in shape. CMT patients have to work harder to maintain their physical condition, and I’ve been slacking there for the last few years (for good reason for the last year and a half or so). But as soon as I can start working out again, I will be.
CMT has limited me. I do not dispute that. But it has also shaped me. I spent a lot of time on computers as a child while recovering from my surgeries, and I now make a good living working with computers. I read a lot of books as a child because I didn’t play hockey in the winter like all my other friends did. Now I write novels. I don’t think I would appreciate stretches of good health as much as I do had I been blessed with it all my life.
What does the future hold for people with CMT? There currently is no cure, though there are doctors and researchers around the world working diligently to find one. Much is known about the genetics of CMT, and every day, they get closer to finding ways to make CMT a disease from the past. In fact as early as 1990, I took part in genealogical studies which began to trace the genetic mutations that cause the neuropathy. The Charcot-Marie-Tooth Association (CMTA) is at the forefront of leading and funding this research, and is an organization I donate to annually. For about a year, back in the late 1990’s, I was even on the CMTA’s National Board of Directors. I once raised $5000 for CMT Research by riding in the Rocky Mountain Cycling Club’s Denver to Aspen Classic, a 200 miles in a day bicycle ride over 4 9000 foot passes. I wasn’t able to finish the ride—it is a brutal undertaking after all, and I just didn’t have it in me that day.
I don’t know if the cure for CMT, when it is found, will ever benefit me personally. Perhaps there will be a drug therapy that I can take that will halt CMT’s progress in my body, or perhaps even reverse it. I’d love for someone to invent a glove that I can slip onto my hand that will augment the strength or nerve impulses my thumbs to allow me to function more normally. I could become a bionic man. Look out, Steve Austin.
But by continuing to fund the CMTA, and the research it does, I hope that this generation of CMT patients is the last generation of CMT patients. Like polio and smallpox, perhaps thirty years from now, we’ll only see pictures of patients in historical archives. The scientific world can move on and tackle the next horrible disease.
To get there, the work needs to continue. If you are looking for a cause to support this year, please consider the CMTA. Perhaps it will be your donation that puts them over the top in the search for the cure.
Joe Beernink 
Joe
Well written.
I have gone through the same struggle in sports, and as you stated that a greater effort was made to prove to yourself that you are really no different.
I chose downhill skiing and golf as my challenge to overcome the effects of CMT, and take pride in the accomplishments gained. DespIte the CMT, for the last 45 years I have experienced the thrill of skiing Intermediate and some Black Diamond runs on many North American, and one Spanish, ski resorts. It is certainly more beneficial and healthier than using the disease as an excuse or crutch.
Regards
Ted B.