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My Journey with Charcot Marie Tooth disease


My name is Kelsey Bates and I am a family nurse practitioner. I wanted to turn the tables a
bit in this blog post, from being a provider to being the patient, and share my story of having Charcot Marie Tooth (CMT).

Charcot Marie Tooth

Growing up, I’d say I had a normal, healthy childhood, until I hit the age of about seven. I wanted to play on a volleyball team with the rest of my friends so that’s what I did. I quickly found out compared to other girls, I was very clumsy and always the last one to the finish line, as a kid I remember this made me feel frustrated and embarrassed because I couldn’t do what the others did very well.

When I was eight, I had a simple fall of my bicycle and ended up with a fractured growth plate in my left elbow. A few months after that, I was running on the playground at school with friends. I tripped, fell and fractured the growth plate in my right elbow. After these incidences, my mom (who also has CMT) had a high suspicion that I might have inherited CMT from her.

My parents took me to see a pediatric orthopedic specialist who was well known for working with CMT patients. Through genetic testing it was confirmed that I have CMT type 1A. The orthopedic told me that with having CMT, I shouldn’t play sports due to my high risk for injury related to the nature of my disease. While I was bummed to hear this news, my parents were awesome at guiding me to other activities and hobbies that I grew to love throughout my childhood and teenage years.


What is Charcot Marie Tooth disease?


A genetic disease, most commonly inherited but can occur as a genetic variant without a family history of the disease, that affects the peripheral nerves controlling muscles in the feet/legs and hands/arms. It is a slowly progressive disease that can cause loss of normal function and also loss of sensation in these areas. There are different types of CMT, with CMT type 1A being the most common. The disease does not discriminate, it is found in all types of people and affects more than three million people worldwide (Charcot Marie Tooth Association, 2021).

Common Symptoms

  • Toe walking, frequent tripping, ankle sprains
  • Clumsiness
  • Abnormal sensations in the feet and/or hands
  • Structural foot deformities (typically high arches and hammertoes)
  • Muscle weakness
  • As muscle wasting in the lower legs and feet progress: foot drop, poor balance and difficulty walking
  • As muscle wasting in the arms/hands progress: difficulty with manual hand dexterity
  • Chronic cold hands and/or feet
  • Muscle cramping
  • Poor tolerance for cool, cold and/or hot temperatures
  • Scoliosis or kyphosis
  • Other potential symptoms: flexed fingers, tremor, knee/hip issues, sleep apnea, breathing difficulties, swallowing difficulties, absent or reduced reflexes, poor circulation and hearing loss

Diagnosis of Charcot Marie Tooth


Symptoms, physical features and family history are helpful but more is needed for a diagnosis.

  • Nerve conductions studies (NCS)
  • Electromyogram (EMG)
  • Genetic testing through a blood draw can provide a definitive diagnosis for most CMT types
  • DNA sampling does not detect all types of CMT

Treatment

  • Physical activity to maintain muscle strength, endurance and flexibility
  • Physical and occupational therapy
  • Ankle-foot orthotics, custom made shoes
  • Orthopedic surgery, when needed, to maintain mobility and function


There are no medications for Charcot-Marie-Tooth disease. Treatment is about giving the individual what they need to function optimally in their daily life. In addition to the above-mentioned treatment, living an overall healthy lifestyle is paramount for patients with CMT.

There are also certain medications that individuals with CMT should avoid. These medications are neurotoxic and therefore have a potential to worsen CMT symptoms.

Where am I now?

Knowing what I know now about CMT, I am very physically active and plan to stay that way. I have learned one on the best things I can do for myself is to take care of my body so it will continue to function well. Riding a stationary bike, doing yoga and pilates, power walking and also strength training on a frequent basis have been helpful. I also wear custom shoe orthotic inserts which help immensely by giving my high arched feet the support they need.

CMT does not slow me down, and 99% of individuals would never know that I had a neuromuscular disease. Likewise, I consider myself blessed to be able to do the things I do and don’t view myself as having a disease, limitations or a disability. This disease has been a part of my journey in life and has also has led me to where I am today. I wouldn’t have it any other way. I also feel it is part of what makes me a compassionate health care provider.

As providers it is important that we remember to step back and see people as people and not just as a “patient” or a disease process. We all have some type of issue or battle we are dealing with at some point in our life. Encouraging our patients to do the best they can and be the best they can be can go a long way for many people.


References
Charcot Marie Tooth Association. (2021). Understanding CMT. https://www.cmtausa.org

Learn more about this condition and other orthopedic conditions with our training programs! Visit https://ppemedical.com/advanced-practice-clinical-skills-workshop/ to learn more!

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