It has been a few months since I started this blog and I have learned a lot about myself and others that have both illnesses. I started this blog as a way to document someone living with CMT, Scoliosis, and Stenosis and the tips I would find along the way but what I discovered was something completely different. I was inspired by the communities that are helping and supporting one another. The people I now follow, read, and learn from all came through me starting this blog. Also, writing a post about a subject made me look at the subject more objectively which has helped me discover causes for issues that have plagued since childhood. This blog has given me a way to express some aspects of these illnesses that I not been able to communicate so clearly. This has allowed people close to me and beyond to understand aspects of living with a chronic illness and what effects it has on my daily life. I have had people that have known my whole life that did not know I was battling a chronic illness which was very surprising to me. I am not concerned with people knowing or not knowing if I am not well but it is a good thing for people to hear Charcot Marie Tooth, and Scoliosis so if they hear it from anyone else they may have some familiarity with the subject or at least know someone that has it. I am truly grateful and greatly appreciate all my social media followers, blogs subscribers, family and friends that have taken the time to read my blog and I hope you will keep reading my posts and continue to follow me on this journey. Thank you so much. I will leave you with this quote “After nourishment, shelter and companionship, stories are the thing we need most in the world.”― Philip Pullman
They say that the journey of a 1,000 miles begins with a single step. The long journey to my CMT diagnosis began with a single misstep when I began third grade and for the first time had to climb a flight of stairs to get to my classroom. A teacher noticed that I was having trouble with the stairs and informed my parents, setting off the search. It would be 25 years between that misstep and my diagnosis.
First, my parents and I met with an orthopedic doctor who was very well versed in neurological diseases. He told us that it was either muscular dystrophy, Charcot-Marie-Tooth or Guillain-Barré syndrome. I spent the following summer of my third-grade year being tested for all types of diseases. I had an MRI, X-rays, a gait analysis, and an EMG. When all the results were in, I was told I had scoliosis (an S-curvature of the spine) and Guillain-Barré syndrome, or GBS.
I began living my life thinking I had Guillain-Barré. I was always a curious child and I read everything I could get my hands on about it. I never felt that my symptoms matched up with GBS but I ignored my feelings of doubt and told myself that maybe my version was different than the typical one.
My life went on this way for the next 25 years. Then I started noticing a dramatic change in my energy levels, my ability to work and my ability to do normal daily activities. I started to have injuries, pains, and problems doing things that I had always been able to do. So, I visited my doctor again and he said I should see a neurologist. I took the same tests that I had taken as a child, but this time the results and the diagnosis were different: Charcot-Marie-Tooth. I was shocked but not surprised if that makes sense because I had never truly believed I had GBS.
After reading about CMT and its symptoms, I was almost sure this was what had plagued me for my entire life. I was upset because I have had so many bad days and so many issues that could have been explained and treated with the right diagnosis. The next step was to find out more information about CMT so I joined the CMTA. I also became Co-Leader of the Chicago North CMTA Branch. This was one of the best decisions I have ever made in my life. The CMTA helped me find the resources that I needed to better understand and support my CMT. Also, the CMTA is funding a research that gets closer every day to finding help for those of us who have it. Although I am no longer part of the CMTA, my time with the organization was life changing and I would recommend it to anyone who is just starting to learn about Charcot Marie Tooth and needs a great resource for help and information.
While I had all of this new information and the best resources from the CMTA, I was still not 100 percent convinced that I had CMT. So I decided, in my role as a CMTA branch leader, to bring in Julie Hedrick of GeneDx to speak at a branch meeting. Like many people, I was concerned about the expense of genetic testing, but Julie and the team at GeneDx helped me through the process of getting genetic testing done with my insurance. After a few months, it was confirmed that I have CMT4C.
According to the CMTA, CMT4C is caused by mutations in SH3TC2 and has a wide variability of severity. This type of CMT involves childhood onset of sensory and motor neuropathy in the lower limbs and high arched or flat feet. Patients often have mild difficulty walking and some may need a wheelchair. Scoliosis is almost always present, usually onset in the first two decades. The onset of neuropathy symptoms range, some beginning in the first decade of life, and others in adulthood. Lower limb and upper limb weakness is common, beginning towards the hands and feet and sometimes extending above the elbows and knees. Hearing loss, vocal cord involvement, and facial paresis have been reported.
I am a firm believer that if something does not feel or seem correct, always question it. For years, I felt that my diagnosis did not fit me but I accepted it, whether because I was misinformed, in denial, or just putting a Band-Aid on the real issues I was having. Don’t do what I did: Get the right diagnosis for yourself and get the help you need to deal with your CMT.