“I Was Misdiagnosed with Every Disease That You Can Think of:” A Charcot-Marie-Tooth Disease Story

Written by Lily Sander

By the time I was age four, I started experiencing unexplained symptoms such as severely turned in feet, which caused extreme pain and mobility issues. Terrified, my parents took me to visit every specialist they could get in contact with, where I was misdiagnosed with every disease that you can think of. Roughly a year after this process started, we finally visited Dr. Michael Shy in Iowa, who is a highly regarded CMT physician. After assessing my deterioration and reviewing a genetics panel, he finally and correctly diagnosed me with Charcot-Marie-Tooth disease.

Soon after, I underwent bilateral foot reconstruction surgery as my club feet were almost completely nonfunctional. This left a tiny, innocent five-year-old to navigate kindergarten in a wheelchair while also relearning how to walk. I was burdened by my lack of mobility, pain, and the great deal of time I had to spend in doctor’s offices. Looking back now, I am thankful I don’t remember much from this time in my life as I’ve been told how traumatic and emotionally draining it was for everyone involved.

The first time I remember noticing that I was different from other kids stemmed from my inability to wear the beautiful, sparkly sandals my classmates were proudly sporting.

The fact of having to wear big, bulky medical shoes with my walking braces upset me greatly and made me cognizant of my disability and its implications on my life. Because of the progressive nature of Charcot-Marie-Tooth, I still have those types of realizations day by day that my life will be different from those around me.

In recent years, I have experienced significant weakness in my hands which has caused a loss of control and mobility. I have also been plagued by the way my hands look compared to those around me. To regain function and control, I have gone through several surgical operations.

As I have grown, I have experienced an overall weakening of my body caused by muscle loss. Complications from surgery have also caused chronic pain and fatigue, which I battle with daily. As a result, as I go about my day, my body appears to function quite differently; however, the way I walk, write, and complete tasks is my normal. I often think of my future with fear, but one day I hope to be able to think of my future with hope for a cure or a treatment for this disease.

The representation of people who look like you, as the viewer and have similar life experiences is incredibly valuable and arguably crucial to development. Only viewing content featuring abled-bodied people who don’t look like me or experience life like me makes me feel incredibly isolated. Frankly, my body isn’t one that is shown frequently on the internet; people with reduced mobility, limb-differences, and wheelchair users are not frequently featured in the mainstream media.

Society as a whole has a terrible perception that wheelchairs are burdensome for users and hold them back in their endeavors. I, however, see my wheelchair as ‘wings to fly.’ That is, full of opportunity and possibility for me to see and do more with my limited mobility. Conversely, the word wasn’t built for wheelchair or mobility aid users and often accessibility issues present great setbacks for disabled people.

Charcot-Marie-Tooth causes muscle weakness and therefore the deterioration of bodies and loss of function; this reality often takes a big toll on one’s mental health. My idea of my body and future is constantly changing, often for the worse. Recently, I’ve been struggling with grieving what my life once looked like when I had more function, grieving the death of the ideas my parents had for my life before I was diagnosed, and carrying the weight of societal norms and expectations. These issues are often a source of great emotional turmoil for many patients.

Charcot-Marie-Tooth has been the greatest blessing and curse of my life. I believe there needs to be far more awareness brought to young disabled and chronically ill individuals, and I have made it my mission to raise awareness and funds for Charcot-Marie-Tooth which will ultimately lead to a cure.

Author Lily Sander

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