I was just a toddler when my family knew for sure that the disease that had been raging through our bloodline for generations had come for me. There was no formal diagnosis, no genetic tests or EMGs. My legs and feet looked just like my sister’s, and my dad’s and my dad’s dad’s. There was no doubt, I had Charcot Marie Tooth disease (CMT), and it was eating away at my nerves quicker than any family member before me. By the time I was 5, I was wearing leg braces.
Living with a progressive disease is like going through cycles of grief for your entire life. No matter what I do to slow it down, the disease rages on, stripping the myelin sheath from my nerves and leaving them to die. I grieved when I had to wear those leg braces, and when I started losing hand function. I grieved when the leg braces weren’t enough and I had to use a walker, and when I finally ended up in a wheelchair, unable to even stand. Each time I reach acceptance, it’s only a matter of time before CMT takes something else, and the cycle begins anew.
Odd One Out
Of all eight of us living with CMT in my family, I am the only one who needs a wheelchair for mobility. I used to think it was my fault. I wasn’t doing enough to slow the progression. If I just worked harder, did more, I could gain back the parts of my muscle, and my life, that had been lost.
So last year, I signed up for eight full weeks of physical therapy. Two days a week, I was rolled down a ramp into the warm water of the aqua therapy pool, the only place I was weightless enough to workout. I worked hard at each exercise they threw at me: squats, ski kicks, walking the length of the shallow end over and over again. Other than being able to move my legs a little better while I laid in bed, I didn’t notice much improvement. But I kept going back, sure that if I just worked a little harder, did a little more, things would turn around.
When the eight weeks were up, the physical therapist shook her head, and with sadness in her wet, brown eyes told me that my right quad muscle was gone. And no matter how hard I worked, it wasn’t going to come back. It was almost liberating to have confirmation that the progression of my progressive disease wasn’t my fault. At the very least, it made it easier to get to the acceptance stage that time. I had done everything I could and it wasn’t enough. Now I wanted answers.
So in my late twenties, 25 years after it became obvious that I was “in the family business”, and with no signs of the disease slowing its progression, I am determined to find out what type I have. I just want to know what to expect out of this disease, and I guess, my life. My case is so different from the rest of my family, that I can’t look to them to see my future. So in the last few months, I’ve finally taken the reigns of my healthcare. I’m now in the process of getting a true diagnosis.
In May, I had a nerve conduction study. It is not an exaggeration to say it is the most pain I have ever endured in my life. The two neurologists administering the test began by warming my hands and feet in a spa-like tub. Once I was toasty, they transferred me to a hospital bed and started putting electrodes on my ankle. The only way I can describe the feeling of the electric pulses is firecrackers suddenly exploding under my skin. Each pulse produced a CRACK sound and a searing pain. For 45 minutes, they shocked my nerves, moving from my ankle to my shin, to behind my knee, to my arm, my wrist, my hand. They turned the voltage up higher than most patients, they told me, because the machine remained flat-lined in each spot they tried to get a nerve response.
“I don’t make many friends doing this,” one of them said as he placed yet another electrode on my arm.
“Mm, I bet,” was all I could muster. In my head, I was thinking Yeah, no shit, man.
Finally, they informed me that to get any kind of read, they were going to have to put the electrodes on my face. Is that something I wanted to do? All the pain would be for nothing if I didn’t agree, so I took a breath and told them to do it. They placed an electrode on my cheek, my temple, and under my chin, and told me to try my best to keep my eyes open as they began the shocks. The line on the screen finally moved.
“Well,” my neurologist said when I was finally done being tortured, “it’s not a slam dunk for 1A, the most common type.”
Because my nerves were completely unresponsive, he explained to me, it was a good possibility that I had a rarer form of the disease. So he sent me a genetic test in the mail. Just a tube I spat in and stuck in a FedEx envelope. I’m still waiting on the results, and I will share them here as soon as they come in.
Other than waiting on the results of my genetic test, I am looking into surgical options to correct my right foot. I had tendon transfer surgery when I was about 8, but my foot has reverted back to completely turning inward. As a result, my ankle is constantly uncomfortable. I have a consult this Thursday, and I am anxious to hear what the surgeon has to say!
Additionally, when the genetic test does come back with my type, I’ll be able to register for any clinical trials. New discoveries are being made all the time, and I would love to be a part of discovering a cure for CMT, even if I don’t benefit from it directly.
I hope you’ll follow me on this journey, as I finally get a firm diagnosis of the disease I have been dealing with my entire life. I’m so excited to understand more of what’s happening inside my body, and what I can expect in my future.
Have you ever heard of Charcot Marie Tooth? Let me know in the comments!