Every morning, for the past eight years, Carter sits on the bottom stair (pictured) and puts on his leg braces. His bracing options have become more robust over the years, going from a small ankle brace to a few iterations of carbon fiber leg braces. Still, every day Carter feels the disappointment that accompanies the laborious process of squeezing in his increasingly deformed foot and tightening the Velcro straps around his atrophying shins.
As a baby, Carter missed every major motor milestone, crawling at 17 months of age and taking his first steps at 20 months, after four months of regular physical therapy. Carter was diagnosed with joint hypermobility at 15 months. After continuing to toddle ineffectively and struggling to jump or step off a curb by age three, the path to a true diagnosis became more serious. After eight months of brain MRIs, EMGs, sleep studies, evaluations and extensive bloodwork, Carter was finally diagnosed with CMT1A at three and a half years old.
CMT is not always inherited, and in Carter’s case, the disorder resulted from a genetic variant that can be found in all races of men, women, and children.
Today, Carter’s mobility remains precarious, requiring use of a wheelchair for long periods of walking or standing. His feet are becoming too deformed to walk with comfort and soon he will need complete reconstruction, just to keep his feet amenable to bracing. Regular nerve conduction testing is always heart wrenching, as the disease continues to rob him of feeling and mobility below his knees and his elbows.
Carter hates CMT. He dreams of being a regular boy: running with his friends, playing on the beach or playing in the snow. He is frustrated by his body’s limitations and mourns the loss of his abilities regularly. And because CMT can cause breathing difficulties, Carter is regularly monitored for phrenic nerve progression that would disrupt the functioning of his diaphragm and his ability to breathe. Carter’s future remains dependent on a treatment becoming available to stop the progression of this savage disease.
The CMT Research Foundation opened its doors with one mission: to fund the imperative research to accelerate the delivery of treatments and cures for Charcot-Marie-Tooth. Together, we can be the catalyst for the cure for CMT. Let’s give Carter the childhood of his dreams.