Charcot Marie Tooth disease, or CMT.  “What’s CMT”?  “I’ve never heard of that”.  Over the years, I’ve been asked that question many times and listened to the query does that have anything to do with teeth?  

I grew up with CMT.  Three out of four members of my immediate family, father, brother, and me all were diagnosed with CMT.  My father was 33 years old (the first in his extended family), and my younger brother and I at age 7 years old.  Being diagnosed at such a young age I was unaware of how devastating CMT can be and at that time, 1960s, there wasn’t a lot known about CMT.  One of my earliest indications that something was different about our family was trips to the MDA Clinic at the UW Hospital in Madison on Monday mornings twice a year.  Mom never told my brother and me the night before, because that would have meant me worrying about the morning to come.  I always knew we’d be poked with a safety pin and asked “can you feel that” as the pin went from toes to knees and fingers to elbows as our eyes were closed.  Because the UW is a teaching hospital there was always a room full of medical students with the doctor which was very intimidating to shy and timid me.  Even though those visits were hard as a child, they were a beginning as to how my family and our extended family has sought to find answers to the puzzle that CMT is by going to clinic, participating in various research studies over the years, being involved in MDA Walks, and holding fundraisers dedicating the funds to CMT.

Having three members of my family with CMT and each losing a bit of ability at different times was not easy.  There were surgeries for ankle stabilization, hospitalizations for pneumonia, wearing of various types of braces, use of a walker, manual wheelchair, power wheel chair, BiPap machine, and adaptive driving aides.  I think of CMT as a thief, a robber of ability and with each loss, for me, there is a period of grieving, but being raised with parents who tackled each change and challenge with grace and a never give up attitude, you learned to roll with the punches and find a creative way to adapt.  I have a plaque in my home that I look at every day that says; “You have 3 choices in life – give up, give in, or give it all you’ve got”.  The 3rd choice is exactly how my immediate family, and my extended family chose to live.

In spite of the difficulties, I have had so many positives in my life including knowledgeable doctors, amazing physical therapists, and exceptional care givers which has given me the best possible quality of life.  I attained a college degree that allowed me to work 34+ years at a job that I loved with wonderful co-workers that I consider my 2nd family.  Adaptations were made to my workspace and to the building to make it accessible for me so that I could work all those years.

Even though I am the last living of my immediate family, I have a loving, supportive, extended family, I have a caring, supportive church family, I live in a supportive and friendly community, and I have amazing, caring and supportive friends.  Because of the strong support and inclusion that I have, I enjoy going out to eat, shopping, going to plays/musicals, having get-togethers with my game night group, chatting, texting, and emailing with family and friends.  I like to read, I occasionally write poetry, I am a Brewer, Packer, and a UW Madison sports fan, and I’m a dog mom. 

Presently, a significant life changing positive is the discovery of the variant for CMT1j after decades and decades of waiting for a breakthrough to the puzzle of our type of CMT.  Due to the discovery of the variant, there is HOPE!  HOPE only 4 letters, but the word holds so much promise.  The CMT1j research/testing offers HOPE!!