I was recently diagnosed with Charcot-Marie-Tooth disease. In medical terms, it is a genetic neuromuscular disorder, caused (in my case) by a duplication of one tiny area of chromosome 17. It leads to abnormal nerve structure and thus abnormal nerve signal transmission. Over time, the nerves degrade and die off (this is called neuropathy), taking the muscles with them. It starts in the feet and works its way up the legs, and at some point begins in the hands and works its way up the arms. The rate and degree of progression is different for every affected person.
CMT is a progressive disease, and the form I have generally comes on slowly. So it was with me, although I didn't know it. I've been "clumsy" all my life, with weak ankles that are prone to rolling, and weak reflexes. I've always gotten muscle cramps a lot. My feet are always cold. None of that held me back, per se, but there were a series of nuisances to be managed. No stiletto heels. Watch how you walk so you don't sprain an ankle again. Do any workout besides running. But otherwise, it was fine. Then during residency, I started getting intermittent weakness in my feet and toes. The cramps got worse. I started having falls and trouble keeping my balance, especially when I'd been awake for long shifts or wasn't sleeping well. People commented a few times on how my gait looked different, "like it's hard for you to walk." They were right. It felt very hard to walk. I assumed I needed to sleep more and be more diligent about working out, chalked the falls up to residency fatigue, and kept pushing.
I know, I know. I'm crazy. No one in their mid twenties should be falling and having trouble walking. I know. But I... just didn't think about it. I was trying to hold it together and finish training, and there was work to be done. So I went to work.
Fast forward a few more years. This spring I started tripping over my toes, and I realized I couldn't move them. My right hand began cramping around my pen every time I picked it up. I realized I couldn't feel the bottoms of my feet. Then my knees started to constantly feel like they were giving out, and I finally got scared enough to pursue a possible diagnosis. If you think a doctor can't have denial, think again; despite all of that I honestly thought they were going to tell me it was stress. Instead, two neurologists and $3000 worth of tests later, I was given a diagnosis that explained every troublesome thing I've ever had with this body - and made it clear it is going to get worse. And it has gotten worse; it's gotten a lot worse just in the past couple of months. Apparently that happens sometimes.
I will be honest here and admit that I feel inexpressibly sad about it all. I don't know what this will mean for my personal life or my career. It's scary and taxing to try to navigate the sudden drop in my physical ability (a topic to discuss more in a later post). I feel newly, terrifyingly dependent on Jesus, while at the same time I feel so confused that He would allow a time bomb like this to be seeded in my DNA. I trust Him. But I don't understand.
I expect the tone of this blog will change significantly from here on out but I don't yet know how. I guess I'll just take it post by post and day by day. But I knew that I couldn't blithely write about the happenings of my life and career while withholding this diagnosis.
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