Succeeding in Spite of Charcot-Marie-Tooth Disease

Written by Peter de Silva

As a young person, I tripped and fell on a regular basis. Including during one little league baseball game which we might have won – if I hadn’t tripped and fallen on the way to first base! My parents and I knew something was not right. There was suspicion that my sister and I had Charcot-Marie-Tooth Disease (CMT).  Living with CMT has led to a lifetime of physical and emotional challenges.

CMT is an unrelenting progressive, degenerative disease involving the peripheral nervous system resulting in abnormalities to motor and sensory signals weakening feet, hands, legs, and arms. Symptoms include pain, muscle weakness, decreased muscle size, decreased sensation, hammertoes, and high arches. Individuals with CMT – including me – struggle with constant pain, weakness, and a lack of strength throughout their extremities, among other debilitating symptoms. The disease manifests differently from person to person, with effects ranging from moderate to life-altering. As a progressive disease, the manifestations grow as individuals age. Many people who suffer from CMT need leg braces, orthotics, and other forms of mobility assistance, sometimes even wheelchairs. These are currently the only noninvasive options for CMT. In some cases, surgery is also an option to help improve mobility and stability.

CMT is a hereditary disease with a fifty-fifty chance of offspring receiving it from the affected parent.  We suspected the disease came from my father’s family. Since my grandfather on that side died in his early thirties, we don’t have enough information to know how far back the disease goes in that part of our family line. My father had CMT too, but it only began to present symptoms later in his life. That’s the thing with CMT: It can lay dormant until one day it begins to present itself. Due to a confluence of different medical conditions, my father, in his fifties, was forced to have his left leg amputated below the knee. Before and after that, he taught me to push through adversity and do all I could with what life gave me to work with. Although he constantly struggled with walking and everyday tasks, Dad never complained.

During my freshman year of high school, my parents decided it was time for me to face significant reconstructive surgery on both legs, both ankles and feet. I was operated on multiple times by Arthur Pappas, the famous Red Sox baseball team medical director (1978–2002), at Boston Children’s Hospital. I had both legs operated on nearly back-to-back, which, in retrospect, was probably a bad idea. The surgeries were extremely long, complicated, and painful. I endured a long road to recovery, with seemingly endless physical therapy. At one point, I was in a wheelchair for almost six months. For most of my high school freshman year, I was tutored at home.

I never considered allowing my CMT and medical setbacks to define me as a person or business leader.  In large part, this is because my parents taught me not to, by word and example.  My mother always reminded me that CMT does not affect your brain or your cognitive ability.  With her encouragement, I pursued life interests and a career that did not require much physical exertion.

While I walk with a limp and am in pain with every step, the manifestation of my disease—while still progressing—is currently in the moderate category. I have always hidden it well by limiting the types of recreation I undertake and the use of well-hidden braces and orthotics. Contrast that with the hundreds of thousands of people who live their lives in wheelchairs, use prosthetic devices to remain ambulatory, can’t fully utilize their extremities, and have other visible and severe physical limitations.

More About CMT

CMT is the most prevalent rare disease in the United States with approximately 150,000 cases in this country and over three million worldwide. It is widely believed that these case numbers are significantly underestimated as most physicians are not familiar with CMT, leaving many affected individuals undiagnosed or misdiagnosed. This is especially true in less developed countries where the health care systems are not as advanced as those in the United States and Europe. CMT is present in all races, ethnicities, sexes, and countries. The disease is hereditary and, to date, incurable.

Although CMT typically first appears in adolescence or early adulthood, it can occur as a spontaneous mutation anytime in the life of an otherwise healthy individual. It is a lifelong debilitating disease that accelerates over time.

While individuals generally do not die as a direct result of CMT, it is a contributor to early death in some cases. If someone falls down a staircase, hits his or her head, and dies, the death certificate will likely say the person died from head trauma, not CMT. While CMT did not technically kill the person, the lack of stability and balance because of CMT was likely the reason the person fell in the first place.

The out-of-pocket medical costs, at-home care costs, emotional costs, and fiscal impact on the economy – due to CMT-related disabilities – are incalculable.

About the author

Peter de Silva is a member of CMTRF’s Board and a former Senior Fellow at Harvard University’s Advanced Leadership Initiative. But he is best known in the business world as the former retail president for TD Ameritrade, where he was responsible for all facets of the +$5 billion retail business segment, including strategy formulation, financial performance, sales, digital strategy, distribution, client experience, associate experience for the 5,000 employees, and compliance and risk management. He is also well known as a tireless community leader and champion, especially in his adopted community of Kansas City.

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