Berkeley, California

Keenan was diagnosed in 2023 with Charcot Marie Tooth Disease, Type 4C. He was 15 years old. After we received the diagnosis he asked, "what am I going to do?". I said, " you are going to do what you've been doing your whole life, living your life to the fullest and adapting as you go". On that day, we got an answer, a name for what had been a perplexing, frustrating mystery for many years. When Keenan was 18 months, I asked his pediatrician, "why does he walk like a drunken sailor"? That led us to our first specialist, an orthopedic surgeon, who said his hips are fine. For years after that his balance issues and motor skills were shrugged off. When he was eight and clearly not running like his peers, he saw a pediatric occupational therapist who misdiagnosed him with dyspraxia. We thought ok, that's our answer. But then year after year, more health issues started to surface, knee dislocations, scoliosis, kyphosis, gait and balance irregularities, hearing issues, foot fractures, joint pain and fatigue. We saw numerous specialists, ruled out a connective tissue disease. Until one random discussion with his geneticist and a blood test, lead us to Dr. Alexander Fay, a UCSF pediatric neurologist and finally a clear diagnosis.

Life with CMT 4C for our family means a lot of doctors appointments with various specialists and weekly PT for different issues such as back and neck pain, knee dislocations, knee surgery rehabilitation, and balance. It means watching your child not get to do some things and miss out on some experiences.

Despite all this, our family lives our life fully. We travel and adventure and spend time with friends and family. Keenan is doing very well academically in a big public high school. He wants to study physics in college. He enjoys flying RC planes, building robots, sailing, swimming, and snuggling with his favorite cat, Bonsai. His older sister, Hazel, has always been an important part of his life and together we are a tight knit family of four. He is super funny and has learned how to persevere despite ongoing physical challenges. We love him to the moon and back.

CMT 4C creates plenty of hurdles but it doesn't define who Keenan is. We will continue to take on these hurdles as they come (which sometimes feels relentless) and continue to enjoy our life and support Keenan to live a beautiful fulfilling life. Our hope is for a cure someday and we are doing everything we can to support the research moving forward.