Our Journey
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.
The Diagnosis
After an initial visit and some testing, He announced 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. Dr. Sum 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 will this small non-profit on the east coast with 3 ½ employees help 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. After I had time to digest the repercussions of a CMT diagnosis, my reality shattered; I felt broken and lost. Here are my thoughts at that time:
A World Shattered in a Million Pieces
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.
What Else Could We Do?
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 (i.e., weaker, less capable) and let him experience the world on his terms. This was probably the hardest but most essential job I had as a parent of a child with a rare disease.
Tools for Independence
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 were 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.
Super Dad
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 worked around his 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.
Teaching Kids Early on, I reached out to that non-profit organization, CMTA, with 3 ½ employees and decided to volunteer my time to CMTA, 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.
CMTA Support Groups
20 years ago, 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. I stepped up and started a branch in California myself to get the experience and resources needed to help everyone and anyone with CMT. The groups grew from 12 to 75 across the country in the blink of an eye. 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, and 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 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 better understand the issues affecting 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.
Hero Dad
My husband, Gilles, always supported my efforts on Yohan’s behalf but remained a silent partner, encouraging me to do my thing. When I joined CMTA, he worked 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 became 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 memorable weekend adventures, 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 but how Gilles tried to dry them. Thankfully he removed the orthotics before leaning the shoes up against the sticks of their campfire. They retrieved the shoes the following day, but the soles had melted entirely off….ooooops! That’s nothing compared to the picture of 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. “He 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.
To this day, 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!
Funcle (Fun Uncle) Chris and Yohan: A Forever Bond.
My Family
My family has 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), California (where we live), or a neutral vacation spot to spend quality time together. One winter in VT, Chris looked downtrodden. Seeing a change in Yohan’s physical abilities, Chris reminisced, “We used to ski, snowboard, hike, and play racquetball, but those sports are no longer CMT-friendly. How can I continue to be part of his life and show my love for him?” He paused briefly before proposing, “How about if we did a cycling fundraiser in VT to support Yohan, others with CMT, 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!”
Cycle 4 CMT
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. Yohan tried biking again after failing miserably when he was seven, thanks to his uncle’s unwavering support and belief in his capabilities. 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.
Yohan’s entire journey with CMT has been 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.
CMT 4 Me Podcast: Giving Voice to the Community
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 with 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 my connections with friends, family and community are invaluable. Listen here: https://www.podpage.com/cmt4me/
My husband left his job and eventually retired at 58 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.
For Parents of Children With CMT
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).
Our journey with CMT has been one of triumph, growth, and transformation. Together, we have faced countless challenges, finding strength in unity and the unwavering support of the CMTA community. We learned that focusing on abilities, not disabilities, can lead to a life full of extraordinary achievements.
My One Gift
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. ” I want to leave him with the empowering knowledge that he holds the key to realizing his heart’s desires – all he has to do is believe in his own capabilities!” 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.
Thank you to Kate Gwinn, Specialist, Product Communications from Horizon Therapeutics who asked me to write our story for Horizon Therapeutic’s website. She graciously reached out, asked questions, provided questions and quickly turned it all around to make this the most comprehensive and most memorable article I’ve ever written. Thank you for spreading awareness of Charcot-Marie-Tooth disease and CMTA!
Blog: https://www.rareiscommunity.com/2023/07/13/our-journey-with-charcot-marie-tooth-cmt/
Facebook: https://www.facebook.com/photo/?fbid=669827458516596&set=a.559902412842435
Instagram: https://www.instagram.com/p/CupR07srUlJ/
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Thanks so much Lisa. And thank you for stepping up and being part of this magnificent adventure! You rock!
Thank you so much Lisa!
What a lovely, inspiring and courageous story of Yohan and the family and community that support him and others affected by CMT!
Thank you so much for reading and commenting. My heartfelt appreciation!
You are a true inspiration. Your courage, strength, determination and love shine through in this article. Your warm hand and guidance to us during our own CMT journey is beyond compare. Thank you from the bottom of the my heart.