The Early years leading to my diagnosis

This topic is particularly difficult for me in many ways. Although Charcot-Marie-Tooth disease is a hereditary disease, I have no one in family that has it. My case is a rare one because it was caused by a mutated gene during pregnancy. At the early age of 3 I was prescribed with orthopedic shoes to help with flat feet and I continued to wear them for the next several years. Shocking to think that I at one point had flat feet. (I’ll get into that in another post)

My Mom was approached but a guy that worked with Shriners and he thought there was something going on. But with a child that age I can only imagine what my Mom was going through having people comment and judge for things they do not know. Around the age of 5 I became very involved with sports just like most kids that age. It didn’t matter how good I was at them, I just enjoyed having fun and not letting life bring me down. I had a great group of guys that always seemed to be on all the sports teams I joined. I took part in multiple years of Soccer, Basketball, and baseball. And one season of flag football. Baseball I enjoyed the most but it also took a toll on my family hearing week in and week out from other parents ridiculing the fact that I struggled to run. At the age of 10 I ended up moving to a new school with a new group of kids. Joined a new basketball team and got hit with negative people. Got harassed and made fun of for being different. And that ended my athletic career. Only to have come out of retirement to join an old man softball league last summer. Hit a single first time out and struck out my second time up to bat. My bodies limitations made it known I was pushing too hard. Ended the remainder of the season base coaching.

With all of these sports going on in my life it became very noticeable that my balance was getting and my body just couldn’t handle the pressure of running. My Mom started seeking doctors that could help figure out what was going on. This little boy with a huge heart wanting to push past judgment, and push his physical limitations. I ended up seeing specialist after specialist with the only possible diagnosis being Cerebral Palsy until I was sent to a nueroligist for testing. Now the real fun began… the neurologist ordered Genetic studies, nerve biopsy, and finally electro-diagnostic tests. This testing consists of two parts: nerve conduction studies and electromyography (EMG). During nerve conduction studies, electrodes are placed on the skin over a peripheral motor or sensory nerve. This is a test that I wouldn’t wish upon anyone. At the age 12 I had it done and it was the worst pain I have ever experienced. Think of it like you grab onto an electric fence with both hands for three seconds and then three seconds later doing it all over again. This test took about 45 minutes and when I asked for them to stop they had my mom come into the room and hold my hand as I convulse in pain.

The results came in…… Charcot-Marie-Tooth X1. Its usually mild in women but in men there is moderate-to-severe peripheral neuropathy. CMT X1 there is usually sub clinical central nervous system involvement such as mild clinical signs, MRI cerebral white matter abnormalities and EEG abnormalities.

Mild-to-moderate exercise is effective and safe for patients with CMT disease. But if not caught early enough the muscles can waste away enough and atrophy to the point of no return as has occurred through most of my lower legs and my hands. I also wear Ankle Foot Orthodics everyday to help combat the severe foot drop and lack of ankle strength and support. Back after first being diagnosed I had to wear night splints, in hopes to improve range of ankle motion. The feeling they gave is comparable to standing on the balls of your feet on the edge of a stair. It pulls on all of your lower leg muscles and is far from comfortable and next to impossible to sleep with that pain going on all night. Needless to say night splints have since been deemed to hold zero proof to be effective. Braces and pain medications are only able to try to make life a little more comfortable. But ultimately the is no cure.

Thank You for checking out my new blog. Please remember I am not doing this for pity. I have decided to share my story and my experiences for awareness purposes. Please feel free to ask questions. Your questions will help create topics for future posts. Thank you and God Bless!!!

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