My Backstory
When I was in third grade, I broke my arm during gym class. We were playing a jumping game, and when I landed my right arm was fully extended so that the pressure on it caused a hyperextension. It was a minor break and not a huge surprise as I was always known as the clumsy kid. Is this a textbook example of foreshadowing or just a coincidence?
In fifth grade, my teachers expressed their concern about my failure to “keep up with the group” on the Camp Goddard trip to my parents. My parents, understandably attributing the teachers' concern to clumsiness that would be grown out of, decided to keep an eye on me to make sure that I did, in fact, grow out of it. By the fall of my 6th grade year it had been determined that I was not growing out of it, so I had a preliminary visit with a neurologist. She noticed that there was something wrong, she arranged for extensive testing to take place in December. The testing consisted of putting needles in my body and running an electric current between them to observe my reflexes, which sounds horribly painful, but truthfully feels only like small shocks.
Because of the testing and the symptoms that I was displaying, I was diagnosed with Charcot-Marie-Tooth (CMT) in late December of 2011. CMT is comprised of “a group of disorders that affect peripheral nerves (National Institute of Neurological Disorders and Stroke)”. Symptoms of CMT include difficulty walking, hammertoes (toes are too weak to be straight), high arches, an inability to keep the foot horizontal, lack of sensation in the feet, lack of muscle in the feet and legs, and difficulty with balance (NINDS). Later in disease progression, some of these symptoms may appear synonymously in the hands and arms (Charcot-Marie-Tooth Association).
For the next four years, I had appointments with my neurologist to check on my progression, as progression of CMT is usually fairly slow. In December of 2015, after she made her observations and talked to some colleagues, my neurologist said something that I’ll always remember as the beginning of a new phase of my life. “It’s progressing a bit faster than we might have expected.” She had a suspicion as to what may be causing the faster rate of progression, so she decided to send me to get my blood drawn. There are over 90 types of CMT, but only some can be diagnosed with a blood test, while the others have to be diagnosed relying solely on doctor’s observations. When the blood test in December of 2011 came back negative for CMT, doctors made the assumption that it was most likely one of the other types. This assumption is understandable because of how well I match up with CMT’s symptoms. I do, however, wish that the fact that there was no conclusive test for the disease that I was diagnosed with had been mentioned. In January, the test came back positive for FA.
