As most of you know, I was diagnosed with CMT at the age of 15.  CMT is a disease of the peripheral nerves that control muscles that can cause progressive loss of function and sensation in the hands, arms, legs, and feet.  By the very nature of being a progressive disease, year over year I am faced with new challenges.  I have poor balance and I need my leg braces to walk long distances.  My hands are weakened now as well, making it difficult to open jars, fasten the little buttons on toddler clothing or open a necklace clasp.  I suffer from chronic fatigue and I sometimes experience pain in my legs and hands.  This year, I added a hand brace to my coping tools, though thankfully I am only wearing it rarely when I have strained my hands.   Frankly, my mind still believes I can do all the things and has not adjusted to the fact that my hands are now very weakened too and basic tasks can be challenging.   

Having CMT and the work of the CMTA has also opened the doors to wonderful opportunities in my life.  Having CMT put me on the path to a career I have loved in the nonprofit sector, which in a full circle moment led me to start working with the CMTA in 2022.  The CMTA has been at the forefront of the discovery of the genes that cause CMT.  The MFN2 gene mutation, which was only discovered in 2004, is what causes my CMT subtype - 2A.  It is not lost on me that if I had been born 20 years earlier, I would not have been able to do IVF with PGD to avoid passing on my CMT.  That is all thanks to the CMTA.

The CMTA is currently involved in 50 active research studies to find a treatment and, ultimately, a cure for CMT.  The idea of a drug that could even stop the progression where I am now, would be a miracle.  I can ask Steve to open jars for me for the next 50 years and I can tolerate my leg braces.  But to keep my ability to walk and to have enough use of my hands to cook dinner for my family every night is all that I wish for.  I feel fortunate to have a lot of big wishes in my life come true already.  So, what is one more?  I believe it can happen.  But I can’t do it alone.  I need your help.

The biggest obstacle for the advancement of science in a rare disease like CMT is funding.  I truly believe it will be the CMT patients and those who love us who will continue to push these advancements forward.  So please consider making a personally meaningful donation today.  Be a part of stopping this disease for me and the 3 million CMT patients around the world like me.  Thank you for your care and support.

Love, Nicole