Our Journey with Charcot-Marie-Tooth (CMT)

Our journey with the Charcot-Marie-Tooth Association (CMTA) began in 2001, soon after my 7-year-old son, Yohan, was diagnosed with CMT 1A. Known as a heritable peripheral neuropathy, CMT is a genetic disease usually passed down from generation to generation. Still, no one in our past or present families showed symptoms or had been diagnosed with progressive neuromuscular disease. We scratched our heads for months and wondered why his hands were weak, making writing, zipping and buttoning difficult; why couldn’t he climb the monkey bars, ride a bike or fit into penny loafers? His instep was so high, and his toes started to curl due to an unusually high instep.

After much speculation and debate, Yohan’s physical therapist tested his knee reflexes, and after learning that he had none, we were sent to a pediatric neurologist. At our follow-up visit, he explained Yohan had a rare disease with the words ‘shark’ and ‘tooth’ in it. At first, I thought he had said “Shark Tooth disease” (wait, what?), but later I saw the name written out – Charcot (Shahr-KOH) -Marie-Tooth disease. He used terms like progressive, demyelination, spontaneous mutation, nerve damage and muscle weakness. I was under the strongest impression he had made a mistake and had to have pulled the wrong chart.

When the words ‘incurable’ and ‘degenerative’ came out of his mouth, I stopped listening; my mind became void of thought and memory. There were no treatments or cures for CMT, but the neurologist handed me a pamphlet from a non-profit organization in Glenolden, Pennsylvania, providing patient support and resources. “Seriously?” I thought. How is this small non-profit on the east coast with 2 ½ employees going to be of any help to me or my 7-year-old? It all seemed unreal and absurd at the time. Blindsided by the news, we all left the hospital dazed, confused and in a state of lingering shock.

Here is an article I wrote after I had time to digest, understand and live with the effects of Yohan’s CMT diagnosis.

My world shattered into millions of pieces the day of diagnosis, and I never thought we’d be able to pick up all the scattered bits to rebuild our dreams, hopes and wishes for Yohan. I quickly learned this reassessment would not be a one-time project, but a repetitive task taking time, effort and a lot of soul searching.

Seeing a child struggling with pain, braces, physical limitations and apparent differences made me unspeakably sad. My maternal instincts told me to protect, shelter, cajole and especially do something—anything—to make the world a friendlier, more secure place for him. The more his self-esteem plummeted, and his self-confidence lessened, the more I would try to make his life easier in any way possible.

Yet, kids are resilient and smart. On some level, Yohan felt my fears and reflected them back by becoming increasingly anxious, less focused, and simply put, a very unhappy child. Something had to give.

Lightening his load did not seem to be the answer, nor did catering to his every need. In retrospect, I realized I was giving him permission to become more dependent on me for everything, and his teachers in school commented on his lack of autonomy and self-motivation. My husband and I thought long and hard about what was playing out before our eyes and decided to get help from a therapist who counsels families on raising children with medical challenges. Intuitively, we knew what measures needed to be taken, but agreeing on and implementing change is hard, and we desperately needed someone to guide us. Slowly but surely, we stopped treating him as different (ie, weaker, less capable) and let him experience the world on his terms. For me, this was probably the hardest, but most essential job I had as a parent of a child with special needs.

Working together, my husband and I learned how to provide Yohan with the tools needed to be independent, self-sufficient, tenacious and optimistic. After numerous discussions and much trial and error, we agreed and worked as a family towards common goals. My husband started bringing Yohan on camping trips, scuba diving trips, desert excursions and kayaking adventures, which gave him a sense of adventure, autonomy, and normalcy.

I changed my mindset, letting him blow off steam on the way home from school and listened without judging by creating a safe space for him to open up and talk. Sure, I still tended to stray at times, fretting over hypothetical possibilities, living much too far in the future and being obsessed with “what ifs”—but a shift was taking hold, and overall, life became more manageable and much more fun. We all consciously lived in the NOW, not in the past or future, and cherished the present moment.

It was obvious Yohan’s chances of becoming a high-ranking athlete was slim to none, but who cares? We had a golden opportunity to do things a little differently, creating a life full of enriching and rewarding experiences. Over the years, our motto has been, “We’ll Make it Happen.” We followed our dreams, lived in the moment, cultivated new experiences and lived our best lives possible.

We chose to take family trips (even if it meant pulling him from school) as a form of continued education – we visited Europe (Yohan was born in France, where we lived for the first three years of his life), Ecuador and the Galapagos Islands, Tanzania, Bahamas etc. My husband Gilles accompanied his high school class on their annual European adventures. Yohan also became an expert archer, scuba certified, a horse rider, a history buff and an animal expert. (I was strict with TV and allowed him only to watch History Channel or Animal Planet. He thanks me today, but at the time, not so much.) With the help of his tutor, Rick, he was able to manage his executive functioning learning differences and graduated from a first-class University – Pitzer College. Despite a 1 year pause for foot reconstruction surgery (which failed the first time, requiring a complete redo of the entire surgery, consisting of 15-18 separate procedures), Yohan soldiered on and went to Graduate School for Organizational Psychology at Claremont University. Today, he’s autonomous, enjoying his own apartment and working full-time at a start-up company in the field of HR, where he is experiencing a ton of success. He loves his job, his colleagues and his work.

I contacted that non-profit organization with 2 ½ employees and decided volunteering my time to CMTA would help me learn all I could about CMT, meet and work with others who lived with CMT and build community.

I started writing articles about Yohan and how CMT affected him and our family. I created a school-based program to teach kids about CMT in a fun, non-threatening way. The effects of this program helped Yohan’s peers put themselves in his shoes so they could empathize vs. sympathize with him.

Yohan was bullied quite cruelly in 3rd and 4th grade due to his apparent differences. Still, once the kids understood the reality of CMT, they courageously put judgment aside, suppressing their taunts in favor of support, compassion and collaboration.

At that time, the CMTA had a dozen loosely scattered support groups nationwide. I reached out to all the support group leaders and brought everyone together under the auspices of CMTA. Heck, I stepped up and started a branch in California myself to get the experience and resources needed to help everyone and anyone with CMT. In a blink of an eye, the groups grew from 12 to 75 across the country. There is strength in numbers, and we all worked collaboratively to reach as many people as possible, find resources for people with CMT and their families and get first-hand information from our lead clinicians about CMT.

After finding so many new people who wanted to get involved in growing CMTA, I got the green light to organize the first-ever Branch Leader Conference in Las Vegas where our CMT researchers, physicians and leaders from all over the country came together for educational seminars, bonding experiences and an overall sense of solidarity and mission to change the world for people living with CMT.

At this first branch leader conference, I met Jeana Sweeney, who had CMT, along with her young daughter, Rylee. Jeana shared my ideals, passion and determination and I discovered early on that this woman had a natural gift for fundraising! Our friendship has spanned over 20 years, and together, we maximized our creative freedom, innate talents and desire to change the world. We generated ideas, implemented projects and became movers and shakers of the CMTA community.

Jeana and I put together and organized Patient and Family conferences all over the US, inviting CMT experts to speak to CMT patients and providing the necessary information and resources to live well with CMT. We loved our work, the people, the community.

Jeana was hired by CMTA as Director of Community Services and I was asked to join the CMTA’s Board of Directors.

One of our branch leaders had the idea for a CMT Awareness Week, so we implemented that movement which successfully gained a lot of traction. The following year, Jeana and I decided CMT Awareness Week didn’t have enough meat, so we created CMT Awareness Month to help bring a greater understanding of illnesses and issues that affect people with CMT. Today, we celebrate CMT Awareness Month in September to fundraise for a cure, dispel myths, educate the medical community on how to diagnose CMT and spread the word, reaching out to friends or family members who are facing a CMT diagnosis. CMT Awareness Month has become a worldwide movement.

My husband, Gilles, always supported my efforts on Yohan’s behalf but remained a silent partner, encouraging me do my thing. When I joined CMTA, he was working as COO of Hewlett Packard and his time was sparse. We created the Yohan CMT Fund, to financially support the CMTA’s research efforts.

Gilles is an experienced mountaineer, skier and cyclist, so Yohan’s diagnosis was emotionally tough, but not insurmountable. Gilles’ adventurous spirit and longing to create memories with his only son turned into boys-only camping weekends and kayaking trips.

I am not a camper, more of a glamper, so I am happy Gilles took him for out of this world outdoor experiences, but of course, my anxiety seemed to sneak up on me. Gilles let Yohan find his own safety limits and boundaries. He encouraged him to do activities I would have immediately shunned for fear of injury.

After one of these crazy wilderness adventures, they came home tired, but so very happy and fulfilled. Yohan burst through the door, unusually excited to tell me all about their weekend.

First of all, I learned an ocean wave had snuck up on them, drenching his only pair of extra wide shoes, which contained his custom-made orthotics. The issue was not with the water; it was how Gilles tried to dry them. Thankfully he removed the orthotics before leaning the shoes up against the sticks of their campfire. The following day, they retrieved the shoes, but the soles had melted entirely off….ooooops!

Then they showed me the picture of the weekend – Yohan walking dangerously over a fallen tree high above the ground over a creek bed. I freaked out. Yohan was smiling ear to ear, as was Gilles. “What’s so funny?” I yelled. “You could have broken all your bones or even died out there!” That’s when they told me how they manipulated the camera angle to make it look much more dangerous than it was. Do I believe them? It does not matter. Gilles let him be free, allowing him to just be a “normal” kid, without the label of CMT hanging over his head. I admire my husband’s flexibility and willingness to find activities Yohan could embrace and physically succeed at. I conclude with the statement that our lives were never boring!

My family had always been super supportive of me, Yohan and the CMTA. But no one on either my side or my husband’s side of the family had CMT and it was extremely hard to relate to all the day-to-day challenges of having a rare disease.

One day, my brother, Chris, and his family met up with me and Yohan in the Bahamas for vacation. Our two families stayed close and often met up in Vermont (where I was born and raised), in California (where we live) or in a neutral vacation spot to spend quality time together.

Chris confided, “I can’t believe in such a short time how much Yohan’s CMT has progressed. We used to ski, snowboard, hike, play racquetball. I’d like to do something to help Yoahn and all the kids with CMT. How about if we did a cycling fundraiser in VT to support Yohan and the CMTA’s Strategy to Accelerate Research (STAR) initiative? What do you think?” Without hesitation, I said, “Let’s do it! Of course! Let’s do it!” As a result, Cycle 4 CMT was born in the summer of 2014. Chris also joined CMTA’s Board of Directors.

From 2014 to 2023, partnering with the Charcot-Marie-Tooth Association (CMTA), we successfully raised over $2,000,000 to support the development of new drugs to treat CMT, to improve the quality of life for those with CMT and ultimately, to find a cure!

Chris and I grew the VT cycle, making it a nationwide event. Not only did we raise $2,000,000 over 9 years, but the effect on Yohan has been tremendous. Thanks to his uncle’s unwavering support and belief in his capabilities, Yohan tried biking again after failing miserably when he was seven. With the help of his Uncle Anthony, his dad, Gilles, and Chris, Yohan regained confidence, learned balance and gained self-confidence. Today, his electric bike has rocked his world, allowing him to cycle with his Uncle Chris, his dad and his good friend, Vincent. It’s an incredible story of love, passion, support and transformation.

Chris also had the idea of doing a podcast 5-6 years ago, but the idea didn’t catch at the time. Undeterred, he brought the idea up again several years ago and this time, he would not take no for an answer. In September of 2021, Chris and I launched – CMT 4 Me Podcast, which has enjoyed incredible success.

CMT 4 Me is an emotional, heartfelt and humorous podcast for the 3+ million people who have CMT their friends, family and the general public. It provides a platform for people with CMT to have a voice, describe challenges, find ways to overcome those challenges and share successes. Another goal is to spread CMT awareness and unite as a community.

The CMT 4 Me podcast releases every 3 weeks and covers research updates, fundraising, unique stories and interviews with the CMTA community, including board members, branch leaders, and team members. The brother/sister dynamic makes the podcast fun, educational, emotional and relevant. I might hate CMT, but the connections I’ve maintained with friends, family and community are invaluable.

My husband left his job and eventually retired at 60 years old. The CMTA was undergoing organizational changes when he was asked to step up as CMTA’s Chairman of the Board of Directors. CMT research and science were his interests, and today, he works closely with our clinicians, scientists, researchers and pharmaceutical companies to find a cure for CMT. He also is passionate about the CMTA, the people and our future generations.

If your child/children have CMT, life can still be enjoyable and fulfilling. There is no one road map to raising a child with CMT, but here are a couple of key concepts I often share:

• Accept (eventually) the CMT diagnosis – it’s the first step.
• Talk about CMT with family and friends; don’t hide it.
• Help your children describe what CMT is, in their own words, if asked.
• Let your children know it will all be okay because it will.
• Embrace challenges and praise your children for doing their best.
• Create a safe space for your children to talk about frustrations and anger.
• Let go and let them live their lives to the fullest, with autonomy and independence
• Laugh heartily and often. Laughter really is the best medicine.
• Involve yourself with the CMTA. We have so many resources for parents and kids alike.

The CMTA has grown exponentially over the past 20 years. Today, we have:

• A vast library of on-line resources for the CMTA community, including brochures, booklets, webinars, articles written by CMT specialists on the CMTA Advisory Board.
• CMTA Branches (support groups) across the United States.
• CMT Centers of Excellence: patient-centric, multi-disciplinary CMT clinics all over the globe, staffed by some of the highest quality CMT clinicians and researchers in the world. Through these CMTA Centers of Excellence, children, adults and families affected by CMT can be assured of receiving comprehensive care by a team of CMT experts.
• Youth Programs and Compass Adult Programs.
• CMTA’s Camp Footprint (East and West) is the only camp in the United States just for kids with CMT! It is an annual, FREE, six-day sleepaway camp for youth (ages 10-18) with CMT. Camp Footprint envisions a world where children with CMT are empowered with the courage, hope, skills and community for a lifelong journey of realizing potential and developing strengths.
• CMT 4 ME Podcast, Walk 4 CMT, Cycle 4 CMT, Stream 4 CMT.
• CMTA Summit and Patient and Family Conferences.
• Patients as Partners.
• World-Renowned Research Program to Accelerate Drugs to Market for a cure or Strategy to Accelerate Research (STAR).

I could not be prouder of Yohan. He’s kind, empathic, funny, and engaging. He rarely complains about his CMT, and lives with the knowledge that every day is a blessing. He has a supportive extended family and friends who love him for his authentic self. If there is just one gift with which I wish to leave him, it is the knowledge that he can achieve his heart’s desire. He just must believe! In many ways, CMT has been a gift, presenting a canvas upon which my ideas can be seen and embraced. I feel incredibly fortunate that others have trusted my intuition and allowed me and others to fulfill our dreams and wishes on behalf of CMT community. My time with the CMTA, serving people with CMT has made my life worthwhile and incredibly gratifying. To learn more about our story, visit bestfoot4wardblog.com.

Interested in learning more about CMT? Read this #RAREis blog: https://www.rareiscommunity.com/2019/12/20/i-am-not-alone/