There is always country music tunes playing in the background at my mom’s house in Vermont. This particular rainy summer day, we spent the afternoon dancing barefoot to Johnny Cash melodies playing on the TV in the living room. Resting our tootsies for a brief moment, my mom casually asked, “Why’s Yohan always on his tippy toes?” She continued, “I always had such a problem getting you shoes because of your high instep, Elizabeth, but this is a little different. His toes are curled and his arches are so high.” I’d never noticed anything wrong with my son’s physical traits; in my eyes, every part of him was perfection. I gave a slight eye roll and responded defensively, “His feet are fine. Lots of kids walk on their toes. I’m sure it he’ll grow out of it.”
But he didn’t. His feet just got funkier as time passed.
Little by little, the subtle signs became more pronounced: tripping, toe walking, tight Achilles tendons, fatigue, hand weakness, loss of sensation and balance problems. One day, his PT tapped his knees with a hammer over and over again. His legs did not jerk. In fact, there was no movement whatsoever, meaning he had no deep knee reflexes. She encouraged me to bring him to a pediatric neurologist for further evaluation.
The neurologist mumbled something about mild Cerebral Palsy (CP), a possible genetic disease and sent us on our way with prescriptions for an MRI of the brain and blood tests. We were to make a follow up appointment in 6-8 weeks.
8 long weeks and 1,000 Google searches later, Yohan was officially diagnosed with CMT or Charcot-Marie-Tooth (shark-o-marie-tooth) disease, named after the 3 doctors who first discovered it. His condition had nothing at all to do with sharks, teeth or Country Music Television. CMT no longer held the innocent and careless connotation it once had. From that point on, CMT became disease to stop, treat, cure before it could destabilize Yohan’s life further.
CMT is a heritable neurological disease affecting the peripheral nerves, the long nerves extending from the spinal cord to the hands and feet. Another name for the disease is hereditary sensory and motor neuropathy, meaning it runs in families and affects the sensory and motor nerves. As the disease progresses, the nerves slowly lose their ability to transmit messages to the extremities, causing the muscles of the arms and legs to atrophy. For a person to be affected with CMT, that person must have one (or two, depending on the type of CMT) disease-causing mutation in one of the genes that causes CMT.
Both my husband and I were tested for CMT and our results were, without a doubt, negative. Neither of us had CMT and CMT does not skip generations. So, how was this possible? We quickly learned that CMT can also result from a new or spontaneous mutation, otherwise known as “de novo.”
Common symptoms of CMT include:
High arches, curled toes, inability to lift the foot at the ankle, numbness or burning of the feet and/or hands, muscle wasting, poor balance, loss of hand dexterity and debilitating fatigue.
Additional symptoms may include chronic pain, sleep apnea, curvature of the spine, vocal cord paralysis, hearing loss, breathing and/or swallowing difficulties.
CMT is currently incurable, but not usually fatal, though it can be severely disabling. And, although there is no drug treatment for CMT, physical and occupational therapy, moderate activity, leg braces and even orthopedic surgery can be helpful.
Thankfully, I found the Charcot-Marie-Tooth Association (CMTA) soon after my son’s CMT diagnosis 19 years ago. The CMTA not only provides resources for people with CMT, but is aggressively pursuing treatments and cures for all types of CMT (over 100 genes have been identified as causing CMT) with its treatment-driven research initiative, STAR (Strategy to Accelerate Research). The ultimate goal of STAR is to slow, stop, reverse the progression of CMT. With the advent of gene therapies, a cure for CMT is within reach and closer than ever before.
Yohan is now 26 and has just graduated with his Masters in Organizational Psychology. With chronic fatigue, pain, scoliosis and extensive foot surgeries, Yohan has a positive outlook and a great sense of humor. His involvement with the CMTA (helping at Patient/Family conferences, answering CMTA member questions, speaking at national branch meetings and leading youth groups) has been most helpful in embracing the disease, creating resilience and reinforcing strength of character.
Cycle 4 CMT event – August, 2019
He knows there are a lot of very smart people working hard to bring treatments to the forefront and armed with this knowledge, he lives each day to the fullest, focused on the here and now.
This is a family disease and as such, many generations of families across the US are involved with some aspect of the organization –raising critical dollars for research, acting as reliable and knowledgeable resources for the community and helping others come to terms with the disease.
Together, we are out to change the world, one footstep at a time – www.cmtausa.org
Won’t you join us? Never is too late to get involved!
What do Sharks, Teeth and Country Music Have in Common?
By Elizabeth Ouellette
My mom was the first to point it out. “What’s going on with his feet?” She asked one day when my son, Yohan, was 6. “I always had such a problem getting you shoes because of your high instep, but Yohan’s toes are curled, and he walks on his tippy toes.” I’d never noticed anything wrong with my son’s physical appearance, and her comment took me off guard. I gave a slight eye roll and responded defensively, “His feet are fine. Lots of kids walk on their tippy toes. I’m sure it he’ll grow out of it.”
But he didn’t.
Little by little, the subtle signs became more pronounced: tripping, toe walking, tight Achilles tendons, fatigue, hand weakness, loss of sensation and balance problems. One day, out of curiosity, his PT tapped his knees again and again and again. No deep knee reflexes were found. She encouraged me to bring him to a pediatric neurologist for further evaluation.
The neurologist mumbled something about mild Cerebral Palsy (CP), a possible genetic disease and sent us on our way with prescriptions for an MRI of the brain and blood tests. We were to make a follow up appointment in 6-8 weeks.
8 long weeks and 1,000 Google searches later, Yohan was officially diagnosed with CMT or Charcot-Marie-Tooth (shark-o-marie-tooth) disease, named after the 3 doctors who first discovered it. His condition had nothing at all to do with sharks, teeth or Country Music Television.
CMT is a heritable neurological disease affecting the peripheral nerves, the long nerves extending from the spinal cord to the hands and feet. Another name for the disease is hereditary sensory and motor neuropathy, meaning it runs in families and affects the sensory and motor nerves. As the disease progresses, the nerves slowly lose their ability to transmit messages to the extremities, causing the muscles of the arms and legs to atrophy. For a person to be affected with CMT, that person must have one (or two, depending on the type of CMT) disease-causing mutation in one of the genes that causes CMT.
Both my husband and I were tested for CMT and our results were, without a doubt, negative. Neither of us had CMT and CMT does not skip generations. So, how was this possible? We quickly learned that CMT can also result from a new or spontaneous mutation, otherwise known as “de novo.”
Common symptoms of CMT include:
High arches, curled toes, inability to lift the foot at the ankle, numbness or burning of the feet and/or hands, muscle wasting, poor balance, loss of hand dexterity and debilitating fatigue.
Additional symptoms may include chronic pain, sleep apnea, curvature of the spine, vocal cord paralysis, hearing loss, breathing and/or swallowing difficulties.
CMT is currently incurable, but not usually fatal, though it can be severely disabling. And, although there is no drug treatment for CMT, physical and occupational therapy, moderate activity, leg braces and even orthopedic surgery can be helpful.
Thankfully, I found the Charcot-Marie-Tooth Association (CMTA) soon after my son’s CMT diagnosis 19 years ago. The CMTA not only provides resources for people with CMT, but is aggressively pursuing treatments and cures for all types of CMT (over 100 genes have been identified as causing CMT) with its treatment-driven research initiative, STAR (Strategy to Accelerate Research). The ultimate goal of STAR is to slow, stop, reverse the progression of CMT. With the advent of gene therapies, a cure for CMT is within reach and closer than ever before.
Yohan is now 26 and has just graduated with his Masters in Organizational Psychology. With chronic fatigue, pain, scoliosis and extensive foot surgeries, Yohan has a positive outlook and a great sense of humor. His involvement with the CMTA (helping at Patient/Family conferences, answering CMTA member questions, speaking at national branch meetings and leading youth groups) has been most helpful in embracing the disease, creating resilience and reinforcing strength of character.
He knows there are a lot of very smart people working hard to bring treatments to the forefront and armed with this knowledge, he lives each day to the fullest, focused on the here and now.
This is a family disease and as such, many generations of families across the US are involved with some aspect of the organization –raising critical dollars for research, acting as reliable and knowledgeable resources for the community and helping others come to terms with the disease.
Together, we are out to change the world, one footstep at a time – www.cmtausa.org
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I have to say this piece finally gave me a good understanding of what CMT is and how it affects the body. Thanks Elizabeth
I couldn’t appreciate more your level-headed approach and sense of humor in face of what CMT amounts to for all involved in coping with this bugger of a malady. And stay strong, Johan.