When treatments are found for CMT, it would make me so happy to know children with CMT will not progress and lose certain abilities. And for adults, very similarly, it would feel amazing to look at your future and know your disability will not progress further.
My name is Kaileen, I am 28 years old I have CMT2D. Knowing I have CMT is still a new feeling for me as I was undiagnosed until I was 27.
During my childhood, doctors could never identify the root cause of the symptoms I experienced.When I was 22, I suddenly lost the majority of my voice. Once again, no one could identify a cause.
This unexpected change left me questioning what was going on with my body, so I went to see a neurologist. After multiple tests and seeing a geneticist, I was finally diagnosed in 2019 with a very rare form of Charcot-Marie-Tooth type 2D. Little did I know, vocal cord paralysis is a symptom of CMT2.
My form of CMT2D is very rare and was a spontaneous mutation; the variant in my GARS gene has not yet been recorded in any medical articles or journals.
So although I don’t have a lot of resources specific to my type of CMT, I’m very happy to have some answers after 27 years of not knowing.
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