Rare Disease Day - CMT Awareness

Hi, I'm Katerina and I have a rare disease.

I actually do not go around introducing myself like that. But, I thought it might catch your attention. In honor of Rare Disease Day being later this week, I wanted to share some thoughts on living with CMT.

CMT stands for Charcot Marie Tooth disease. By definition it's a hereditary and sensory neuropathy of the peripheral nervous system. I usually share that it's a progressive neuromuscular disease. If you have been following my blog for a while, you probably already know that. It affects around 1 in 2500 people.

But, why do most people never heard of it? I think part of it CMT is named after those who discovered it, Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. The name itself doesn't explain what it is. I'm sure some assume that I have something wrong with my teeth or I have something against sharks. If you are curious about my elevator speech for explaining CMT in simple terms, let me know. 

In all of the years of seeing specialists, from neurologists to physical therapists, only a small percentage had heard of CMT. And even those who have not necessarily understood how it can look different for each individual. For me, my feet look pretty normal. Unless you catch me balancing on one foot then my ankles start to turn in more. I also walk fairly normally for someone with CMT, but I also didn't start showing symptoms until my later teenage years.

Some of the symptoms I do struggle with is, nerve pain, tremors, circulation problems, muscle atrophy, weakness in my feet and ankles, and more. I also wear AFOs, ankle foot orthotics that help with my balance and fatigue. I sometimes use a wheelchair, though not as often anymore.

What helps the most is staying active by doing stretching and walking when I can. And massaging my feet or using epison salts.

But, more recently my life with CMT has looked a little different. I no longer use a wheelchair as often and I also just bought a pair of tennis shoes that do not fit my braces. What does this mean? Well, I will write more about it soon, but I hope to start regaining some of the strength back in my feet and ankles. Instead of relying more on my AFOs, I hope to slowly transition back to where I was before getting orthotics. I'm not going to rush though as it will take my body time to adjust.

What I want you to know is having a rare disease does not change who I am. I love Jesus, dance, writing, spending time with family, and friends, being outdoors, and going out for ice cream. While it does affect me day to day, I’m more than these health challenges. I know God is using these challenges to encourage others who are living with a chronic illness or feel that they lost hope.

Rare Disease Day is just one day out of the year to bring awareness to many different health challenges. I hope you will take the time to learn about your family member or friend’s rare disease. Or just ask them about their experiences. Not everyone will be open to sharing, but it may make their day knowing you care and want to support them.