Neuromuscular diseases take away a person's most basic freedoms and tasks sometimes taken for granted such as the freedom to walk, talk, and hug and even to breathe. Additionally basic tasks done every day from driving to leaving your home to go to school can be a hardship for a family impacted without the right tools and support system along this journey.
I’m participating in the MDA Muscle Walk to be a member of a team who helps to fund research, find breakthroughs, and provide funds for local clinics that service the entire spectrum of those impacted by these diseases. Having been fortunate to attend my local clinic and be an active member of my local support group I truly know what the MDA can mean to a person. If I had not been diagnosed and had the opportunity to attend a clinic I am not sure where I would be today.
My journey with CMT began the day I was born as a result of having a duplication of the PMP22 gene. I actually did not realize what a platform of challenges I would be given during my lifetime of living with a diagnosis of CMT 1A.
I was not aware of my actual diagnosis until 2013 when I met a physician who had experience in diagnosing CMT aka Charcot Marie Tooth Disease. I had no idea at the time what this meant. However, I knew for the first time in all my years I was not the klutz everyone had thought I had been for much of my life. After so many surgeries from all the falls, some graceful and others not so much, I could finally put a name to my question - why.
I have come to realize from the wonderful support of family, great friends, and the wonderful CMT community that this disease has not and will not define me.
This rare disease without a cure has progressed mostly affecting my lower legs, feet and ankles, I require the use of AFOs and a walker or manual wheelchair for longer distances and even braces for hands/arms as maybe need for tasks on some harder days as my disease is progressing, which is part of the course.
I value my career, co-workers and what I do and continue to work full time. I am very fortunate to work for a company who is supportive of my position in accounts payable and has worked with me to continue to be a contributing member of the team. Vantage Mobility International (VMI), whose mission is to “imagine possibilities” works every day to give “mobility solutions that transform lives” which in turn makes us be "freedom fighters" to a community which can be cut off by circumstances beyond their control. I am blessed to be part of that company who truly supports my community and so many others. I feel honored to be a part of their “One Team….One Journey” philosophy.
CMT doesn’t bring down my spirit rather it is a lightning rod to bring more knowledge about my disease which effects 1 in 2500 people to differing degrees. I am blessed to have an extended family in my life that include but are not limited to the Muscular Dystrophy Association. I am very fortunate to be able to attend not only the MDA Phoenix Clinic, their support groups on a regular basis but also a variety of wonderful local events that include the MDA Family Barbeque, Holiday Party and my favorite, the yearly MDA Muscle Walk.
My long run hope is to find a cure for CMT however, in the interim I will and am going to do all I can to be a banner of knowledge for this disease. Together as a community we can enlighten and bring better outcomes for those coming next so they do not feel alone, like the biggest klutz ever and keeping realizing their potential is truly limitless. My hope is that they too will find comfort and acceptance in themselves, and realize they too should not be defined by their challenge, in my case just a disease called Charcot Marie Tooth.