Voices of Charcot-Marie-Tooth Disease: Questions That Tell The Patient Story

1. Early Experiences & Diagnosis

• When did you first notice symptoms or changes in your body?

The first symptom was noticeably high arches in my feet and clumsiness.  I often tripped and fell while walking. Coming from a family of athletes, I was clearly athletically bereft.

• What signs or symptoms made you or your family seek medical help?

During a visit to the university clinic while I was in graduate school, a PA noted an abnormality in my hands that concerned her. That prompted a referral to Duke University’s Department of Neurology.

• How old were you when you received your diagnosis?

I was diagnosed at 35.

• What was the diagnosis process like for you?

I underwent physical examinations, nerve conduction studies, electromyography (EMG), and genetic testing.

• How did you feel when you first heard the words “Charcot-Marie-Tooth”?

I heard of CMT before my diagnosis and suspected I had it based on research I did about my symptoms. Though it wasn’t easy to hear the diagnosis, I was relieved that I finally had a diagnosis.

2. Everyday Life & Challenges

• How does CMT affect your day-to-day activities?

As the disease has progressed, some of my activities of daily living have been impacted, primarily those that involve my hands. Due to muscle loss in my hands, I have diminished strength and decreased fine motor movements. I also have increased foot pain.

• What tasks or routines are harder because of CMT?

Things that require grip strength and fine motor movements, such as writing, opening bottles or lids, buttoning or zipping clothing, opening and closing necklace clasps, and picking up small items.

• Have you required the use of braces, orthotics, or mobility aids? If so, how have they helped?

I am grateful that I do not currently require braces or mobility aids. I do use orthotics in my shoes to decrease ball-of-foot pain. I also use a finger splint.

• What symptoms are the most frustrating or challenging for you?

The muscle weakness in my hands is challenging, not only because of the tasks I struggle with, but also because my hands are prominent in my work. It is frustrating that I don’t have a full range of hand movement in the work I do.

3. Coping, Strengths & Adaptation

• What strategies or habits have helped you manage your symptoms?

I seek equipment that is easier for me to use, such as writing tools designed for individuals with grip challenges. I also engage in mental health practices to help me manage my emotional distress.

• Are there special exercises or therapies that have made a difference?

I am not undergoing any formal therapies. I make an intentional effort to stay active, including daily stretching, walking, and engaging in physical activities such as yard work.

• Have you discovered any assistive tools or devices that make tasks easier?

The finger splint has made typing easier.

• How do you stay active or exercise safely with CMT?

I try to wear appropriate shoes to minimize instability and practice patience, as I know it takes me longer to do certain tasks.

4. Emotional & Social Impact

• How has CMT affected your confidence, friendships, or school/work life?

I have struggled with confidence, mostly at work, due to the visible muscle loss in my hands. I do not engage in social activities that require the use of my hands. I also avoid activities that emphasize nimbleness of feet, such as bowling, golf, tennis, and dancing. This has reduced my social circle.

• What misunderstandings or myths do you wish people knew about CMT?

That black people do not have the disease.

• What kind of support has been most helpful to you from friends, family, or healthcare providers?

The most helpful support from family and friends is that I am not treated differently.

5. Treatment & Healthcare

• What treatments or therapies have helped you the most?

I have not engaged in any formal treatments or therapies.

• Have you considered any complementary approaches, such as dietary modifications or alternative therapies?

No.

• What advice would you give to someone who was newly diagnosed?

Build a support network and find ways to take care of your emotional well-being.

6. Genetics & Family

• Did others in your family also have CMT, or were you the first to be diagnosed?

I am the first person in my family to be diagnosed.

• How has learning about the genetic side of CMT affected your family conversations or decisions?

It has created awareness. If this is indeed inherited rather than a [de novo] genetic mutation, there is now a documented history [in the family].

7. Hopes, Goals & Future Outlook

• What are your hopes for your future living with CMT?
  The biggest hope for the future is that I can continue to live independently.

• What has been your biggest challenge living with CMT, and how have you overcome it?

The biggest challenge has been the loss of confidence associated with the changes in my body and the unknown of how this disease will impact my life in the future. The emotional toll has been significant, and I often feel that I suffer in silence. I work daily on my emotional well-being to avoid falling into depression.

• Has CMT ever changed the way you think about your body, identity, or abilities?

Absolutely. Much of it is related to what I stated in response to the previous question. From an identity perspective, as a woman, I struggle with my foot issues, both from a visual standpoint. My feet are functional, but they sure aren’t pretty! And my inability to wear stylish shoes. I have limited choices, so I must focus on shoes that provide stability and comfort.

• What improvements or research advancements do you hope to see?

I would love to see a treatment that will dramatically slow or stop the progression of the disease. I would also love to see advancements that could restore muscle loss.

• What would you want doctors or therapists to understand better about living with this condition?

The psychological impacts are just as significant as the physical impacts.

• What message would you like to share with others who have CMT, especially younger patients?

You are strong, and you are not alone.

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Interview with a person living with Charcot-Marie-Tooth disease. Interviewee details have been withheld to protect privacy. | Written November 28th, 2025. | Reviewed December 16th, 2025, Copyright: myObMD, 2025