I’d much rather be dressed up as a clown, complete with the red nose, oversized shoes, full face paint, and handing out balloons to kids all day than suffer through the agony of attending an upscale cocktail party. And before you ask, I’m not grappling with social anxiety, nor am I living like a recluse. In fact, I’m quite the extrovert and I thrive at parties. So, what’s the catch, you may wonder? It’s an unexpected culprit – my feet. For the past three decades, they’ve been my relentless tormentors, transforming every step into a torturous journey over hot coals. I even have a wheelchair tucked away in my shed, once used for museum outings or standing-room-only events. Today, it’s in our shed, gathering cobwebs. I’ve simply resorted to dodging situations that demand prolonged standing or involve terrain rougher than a football field. That, my friends, is a whole lot of avoidance.
The Trigger
So, when Executive Life Coach, Arda Ozdemir, approached me about a “LIVE” session showcasing his POWER method, I eagerly accepted the challenge. When he asked about a trigger, a situation causing an emotional reaction, I went straight to the embarrassment I experience when I feel different and out of place, like at fancy cocktail parties where standing for long periods is obligatory. Let’s just say my tolerance for standing is about 10 minutes before my feet start sending SOS signals demanding respite. Between you and me, my size 11 men’s extra-wide athletic shoes are far from a fashion statement at swanky soirees. I feel judged from the moment I shlump in wearing orthopedic Velcro sneakers until I blissfully waltz out the door.
Bar Tables. No Chairs??
I hoped my coaching session would provide some laugh-out-loud revelations on how to comfortably ignore my invisible disability, without attracting undue attention. It’s not about shyness; it’s about how I grapple with formal situations where people are numerous and chairs are as scarce as water in the desert. When I see a room full of tall bar tables, I want to crumble like a cookie in a messy heap on the floor. What’s the right amusing thing to say to tactfully draw attention to my plight? How do I blend in and distract from my unfashionable footwear? Should I wear clown shoes and pretend I just came from entertaining at a kid’s party? These thoughts swirl in my mind between winces of foot pain. And trust me, it’s not just my wild imagination at play – I have X-rays and doctor’s notes to prove it!
You May Be Crazy!
Am I Crazy?
Over the past 30 years, I’ve consulted with all types of doctors, who, at a loss for words, subtly hint that my pain is all in my head, suggesting I was a hypochondriac, a malingerer. While I do appreciate the limelight, it’s the positive kind I prefer – not the type where people stare at your unfashionable shoes and wonder why you are sitting on the floor. When the medical establishment can’t give a tangible diagnosis, it’s akin to having an imaginary unicorn horn protruding from your forehead. You schedule an appointment with a surgeon, who inspects your noggin with a magnifying glass and insists there’s nothing amiss. Meanwhile, you’re convinced you’re sporting a rhino-sized bone growth. Next thing you know, they’re calling in interns to gawk and reaching for straitjackets, convinced you need psychiatric help for your delusion. When authorities question your sanity, self-doubt, and confusion set in. Maybe I am losing my marbles, I pondered. It’s a profoundly isolating experience that leads to questioning one’s own mental health.
Seismic Shift in 20 Minutes In that 20-minute coaching event with Arda, my perspective underwent a seismic shift where I was able to see the whole situation from a different vantage point. This wasn’t just about feeling different; it was about the perception of weakness and the fear of not being loved for who I am inside – a person with stylin’ orthopedic shoes! As we delved deeper into my psyche, I unearthed childhood memories that were dictating my behaviors and reactions. I was constantly operating under the constraints of a limiting life script!
As we unpacked this personal trauma and released its grip on my heart, my cloudy view of the past became crystal clear. I thought about my son who was born with a progressive nerve disease. I never once perceived him as weak or fragile. I believed he could conquer the world; I wanted him to know he was capable, invincible, and deeply cherished. Throughout his childhood, my message was clear: go out there and embrace your talents because you are worthy, skilled, and unbeatable. And that’s exactly how he lives his life – unshackled and in the moment.
The Epiphany
During our session, I experienced a remarkable epiphany. I realized I had never fully embraced the philosophy of “you can achieve anything you set your mind to” when it came to myself. I had chosen to ignore the podiatric elephant in the room by pretending to fit a singular vision of “normal.” But the truth is, there’s no universal definition of normal – normal is relative, unique to each individual like a fingerprint. Everyone has quirks that make them distinctive. So rather than masking my pain, I could acknowledge it as an intrinsic part of my identity.
Why was I willing to believe this empowering message wholeheartedly for others but not myself? I had loathed standing out in any way, trying to keep my pesky foot problems under wraps. Year after year, I tiptoed cautiously through life, keeping up an act of perfect health, sidestepping events that put my foot troubles front and center. But most likely, people wouldn’t have judged me as harshly as I imagined. Most would probably respond with empathy and understanding.
Solutions
So how can I reshape my future social butterfly wings? When faced with a chairless situation, Arda and I pondered alternative approaches. Instead of desperately seeking a hidden bench or chair to sink into while blinking back tears, I could try a different strategy. Why not use those precious 10 minutes of standing to initiate a lively conversation about the joys of orthopedic shoes and steer us toward seating? Or better yet, make a preemptive call to the event venue to ensure seating options for those of us with limited standing endurance. Who would decline such a reasonable request? And even if they did, who cares? I’m sure most venues come with chairs and I’d easily find someone else eager to engage in a seated tête-à-tête.
Conclusion
In just 20 minutes, Arda guided me through the POWER process, and it revolutionized my perspective on my foot fiasco. I realized you don’t need to remain trapped in old patterns and stories. With an open mind and a willingness to change habitual behaviors, there are always avenues to bring light and joy into your life. It’s not about the shoes…….it’s all about feeling safe, self-confident, and aware.
Me, Gilles, Yohan, and Chris: One Family, One Purpose, One Mission
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.
Scuba Diving as a family!
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.
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!”
100% Family Support: L to R – Rachel and George Ouellette, Kathleen Vandevord, Uncle Chris, Aund Mia, Cousin Warrne Ouellette, Yohan, Cousin Lila Ouellette, Grandma Bev, me, Nancy Appleton.
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!
“Can you please take your shoes and socks off?” asked the specialist. He wanted to see me walk down the hallway.
It was a Tuesday morning back in the spring of 2018. I was seventeen, about to graduate from high school, and looking towards the next chapter, college. But there was a problem. I started experiencing nerve pain in my feet that quickly progressed, causing my body to have problems with standing or walking. Also, the fatigue I tried to ignore for years worsened. After weeks of waiting, I received a referral to a podiatrist. I hoped that there was an easy fix to my pain. However, that was not the case.
After seeing me walk, strength tests followed. I was surprised when he mentioned there was noticeable weakness in my feet and ankles. I grew up as a dancer and had continued through the last few months of pain. I also had recently begun living my childhood dream of teaching ballet to young kids. In addition, I continued to take classes in various styles of dance. And while balancing schoolwork. How could there be a weakness in my feet?
My question only spiraled into more after the doctor finished writing his notes. He went on to tell me the three words I never imagined to be true in my life.
“You have CMT.”
I only sat there shocked as this shattering diagnosis began to stir in tears, discouragement, and doubts. There had to be some mistake. For the previous three years, I believed this neuromuscular disease only affected some of my family. I had to be fine, right?
Maybe the doctor only diagnosed me with CMT because of the family medical history. I’m sure I would have recognized the signs before since I watched this progressive disease affect others in my family. But, we later found out the diagnosis was correct. I did have CMT, and my life would change.
I knew the journey was going to be challenging. My future would be filled with struggles as I learned to adapt and live with chronic pain and a physical disability. And my dreams of continuing in dance and even pursuing a career after college seemed to disappear.
The Struggles Of Constant Pain
My pain progressed overnight and felt like a continuous nightmare. As the spring turned into summer, the warmth outside turned my nerve pain into a burning sensation. When it was too cold, I noticed numbness and ache. The fatigue felt just as horrible, and my days consisted of tears and trying to hold everything together enough to function. Every time I thought I had reached the amount of pain I could handle, a few months later, it was much worse.
I started wearing AFOs the following year. When I walked on my college campus, I could barely drive home from the loss of strength in my muscles. Each step resulted in more fatigue. I mentioned this to some specialists during a clinical appointment, and they recommended leg braces. I thought these orthotics would help me feel better. And I could continue to go about my schedule without needing as many breaks. That’s not exactly what happened. I realized over time the thick plastic braces brought on blisters and joint pain. The worst part was reaching the point of having to wear them everywhere. Thankfully now, I have different leg braces that are better.
As months turned into years, I realized that my chronic pain was not the only battle I would face. The depression and anxiety grew worse as I didn’t know how to handle the physical pain and stress. So, I endured months of sadness and fear of the future. I also struggled with feeling self-conscious about my disability. I was afraid of judgment from others if they knew I wore leg braces. I had struggled with this for years, and until more recently, only family and close friends knew about my AFOs.
Katerina’s
Blessings From The Pain
When the pain progressed, my heart only longed for more relief and hope that everything would be okay. So, to help with coping, I began writing more frequently in my journals. Most of the words came from discouragement, tears, and anger.
But, over time, I started recognizing the blessings of living in constant pain. My dancing meant even more because of the messages in the music. Many songs were about hope in the darkness, pain, and suffering. This led to a calling on my heart to create pieces of those messages. I started believing that God could use my story to make a difference in others suffering from an illness, pain, or disability. And I was right. I went past what others may have seen as impossible because of how much my CMT affects me.
At 21, I started a blog. I began sharing my story through short blog posts and invited others to be guest writers. This led to more opportunities to speak publicly at events and recently with two different podcasts. One is the CMT 4 Me podcast (https://www.podpage.com/cmt4me/). Though I continue to struggle with constant pain, I found my voice. I found my purpose by sharing my pain.
Another blessing would be I’m about to graduate from college, something I didn’t think would be possible. I went from walking to every class to using a wheelchair most days. While that adjustment took some time, I have been encouraged by the kindness of friends, professors, and staff.
Most of all, I am on the path of pursuing my dream career. In the future, I want to be a Child Life Specialist and help children in a hospital due to an illness or chronic pain. Some of this would be through therapeutic play, advocating their needs, and bringing joy to them and their families. I would have never pictured a more meaningful career if it wasn’t for my CMT.
Furthermore, I get to see those broken pieces of pain, tears, and discouragement put back together into something beautiful. If it wasn’t for the CMT, I most likely would not have the courage to pursue these passions further. And I would not be encouraging those living with chronic pain, disability, or limitations.
Encouragement
Friend, the pain you are experiencing is not the end of your story. You have more to offer than you may realize. Your passions and dreams may look different. And that’s okay. Stay strong, and keep moving forward. You never know how your story can be used to bless others.
Bio: Katerina is a young adult living in Southern California. She will be graduating college soon with a BA in psychology. Some of her passions include dance, writing, and volunteering with organizations such as the CMTA and Diamonds. In her spare time, Katerina enjoys meeting friends for ice cream and spending time with family.
Katerina is a bright young college student living with Charcot-Marie-Tooth disease. Officially diagnosed at 17 years old, her symptoms progressed rapidly, leaving her little time to adapt to a physical disability, unrelenting fatigue, chronic pain, leg braces, and a wheelchair/scooter.
Although her CMT symptoms pose many limitations, she’s a fighter and continues to go to college, dance, and play a big part in the CMTA’s new young adult community – Compass. She also is a talented writer, aiming to encourage and inspire others who live with chronic illness, pain, and fatigue.
Listen to her podcast, subscribe to her blog. She’s a gift to our community! xoxo
Yohan and me at the VT Cycle 4 CMT in 2019
The Article
“He has what?” I asked when the neurologist mentioned something about sharks and a
tooth. Dr. Sum, the pediatric neurologist was using words like nerves, genes, muscle
atrophy, and progression. I wasn’t able to quite grasp what he was trying to convey, but it
did not sound good. Something was amiss with my 7-year-old son, Yohan, and now this
ailment had a name – CMT or Charcot-Marie-Tooth disease. When he told us this disease
was incurable and progressive, I completely lost it.
Before he left the room, he gave me a card, “Here is the website for the Charcot-Marie-
Tooth Association (CMTA). Call them for a packet of information. In the meantime,
continue with physical therapy, and occupational therapy. I’ll see Yohan in a year unless
something else crops up.” And that was that!
Neither my husband nor I tested positive for CMT, so why is it that my only child had a
heritable genetic mutation causing a life-changing neuromuscular disease? What did I do
wrong? How will we deal with this as individuals and as a family? What does the future
hold?
I would ask myself these and many other questions over and over again, trying to
understand, striving to make sense of why an innocent child, my only child, had to endure
such challenges so early on in life. Initially, I experienced grief in all its stages—denial,
anger, bargaining, depression, and acceptance—and just when I think acceptance
remained strong in my heart, I had setbacks, reverting to anger and sliding down the
ladder once more.
A World Shattered in a Million Pieces
My world shattered into millions of pieces that day, and I never thought we’d be able to
pick up all the scattered bits to rebuild our dreams, our hopes, and our 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 obvious 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 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 more and more 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, and neither did catering to his every
need. In retrospect, I was allowing him to be 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 some help from a therapist who counsels families on raising children with
medical issues. Intuitively, we knew what measures needed to be taken, but implementing change is hard
and we desperately needed someone to guide us. Slowly but surely, we stopped treating him as different
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.
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 a lot of trial and error, we got on the same page and worked as a family
towards common goals. My husband started bringing Yohan on camping trips, desert
excursions, and kayaking adventures, treating him like every other kid on the trip.
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.
When all is said and done, Yohan was not the top athlete in his class, so we had the
opportunity to do things a little differently, creating a life full of enriching and rewarding
experiences. Over the years, our motto has been, “Let’s Make it Happen.” We follow our
dreams, live in the moment, cultivate new experiences and live our best lives possible.
Yohan became an expert archer, was scuba-dive certified, visited the Galapagos Islands,
volunteered many hours to CMTA, and graduated from a first-class University and
Graduate school. He is now working in the field of HR for a local start-up company and
enjoying his success.
Yohan is all grown up now!
Encouragement For Parents
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.
Camp Footprint, the CMTA’s sleep-away summer camp for kids with CMT changes lives. Our volunteers make us shine. Get involved and meet forever friends who understand. Neither your children nor you should deal with this alone. We are better together.
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 has to believe!
– Elizabeth Ouellette
CMTA Board Member, Elizabeth Ouellette
I’ve been volunteering for CMTA for the past 20 years. Here are a few of my most cherished achievements: I created a school-based program, Teaching Kids About CMT, built the national CMTA Branch network, initiated CMT Awareness week, co-founded the Cycle 4 CMT and co-launched the CMTA’s official podcast CMT 4 Me Podcast with my brother, Chris, who is also on the CMTA Board of Directors.
Eleven years ago, late CMTUS founder, Gretchen Glick and I talked about starting the first ever CMT Awareness Week. The 2 organizations (CMTA and CMTUS) worked collaboratively to get the word out about CMT. At the CMTA, I had posters created, wrote email blasts, and asked our branch leaders to spread awareness through groups across the country.
This first CMT awareness week was so successful, that the following year, we dedicated an entire month to CMT awareness, and somehow, Gretchen got American radio host, Shadoe Stevens, to do a PSA about CMT. Listen to this 29-second clip from 2012:
Eleven years later, it is still hard to explain CMT. I read Kenny Raymond’s latest blog post where he addressed this issue, and he brilliantly defines some of the challenges of explaining what CMT is. Thanks, Kenny B. Raymond for putting your thoughts on paper for reflection. How do you explain CMT? Before you answer, read Kenny’s article and then, come up with your elevator speech and share it in the comments. I’d love to hear your ideas!
Kenny Raymond at Cycle 4 CMT, VT
We All Know the Drill
Exploring the Burgeoning Question: “What is CMT?”
by Kenneth Raymond
“Why are you wearing shin guards? You play soccer?”
“What’s wrong with your hands?”
“What’s wrong with your legs?”
Etc., Etc., Etc.
We all know the drill. The answer to the seemingly never-ending questions involves those three lovely letters, C-M-T. And then, the proverbial follow-up, whether it’s a random person in public or even a healthcare provider, requires us to dig deep in hopes of giving them a straight-to-the-point answer that’ll leave them knowing just enough about our disease to remember the name should they hear it again, all the while hoping we give them enough information to know it’s not a tooth disease and that it has nothing to do with sharks.
What is CMT?
“What is CMT?” I’m always trying to improve on how I answer this question. I can easily rattle off some quick factoids, such as CMT is a heterogeneous group of inheritable peripheral polyneuropathies whose name comes from the three doctors who first described it in 1886: Drs. Charcot, Marie, and Tooth; and this name, CMT, has since become an umbrella term that refers to many different inheritable sensory and/or motor neuropathies. Quick and to the point, right? This doesn’t say much about what the disease is though.
Medically, CMT is a genetically caused neuromuscular disease—neuro because peripheral nerve, muscular because the disease in the peripheral nerves causes symptoms in muscles. Genetically caused because each subtype is caused by a mutation in any one of many different genes.
Medically, CMT is an inheritable multisystem neuromuscular peripheral polyneuropathy. Inheritable because each of the genetic mutations that cause CMT are inheritable. Peripheral because CMT is a disease of the peripheral nerves. Polyneuropathy because CMT affects more than one peripheral nerve at a time (poly), as opposed to only one peripheral nerve (mononeuropathy). Neuropathy because peripheral nerve disease. Then, multisystem because CMT can affect hearing, vision, breathing, genitourinary, and much more, in addition to feet/legs/hands.
Statistically, CMT is the most commonly inherited neuromuscular disease nobody has ever heard of. This one is a weird dichotomy unto itself. CMT is a rare disease by every statistical and modeling measure. At the same time, when it comes to inheritable neuromuscular diseases, in totality, CMT is the most commonly inherited. In this context, common and rare can peacefully coexist even if it seems like they shouldn’t.
These above are just a select few examples of how CMT can be described. All of these descriptions are fine and dandy, but not only are these difficult to remember, firing off any of them to Jane Q. Public tends to render confusion about a disease they’ve never heard of. Is there a viable solution—a grand unifying answer, so to speak?
The Elevator Speech
I’m often asked to give my “45-second elevator speech” on what CMT is. My response typically hits several talking points and is usually along the lines of “CMT stands for Charcot-Marie-Tooth disease and is a rare inheritable neuromuscular peripheral neuropathy named after the three doctors who first described it more than 130 years ago. Although rare by definition, affecting only 1 in every 2,500 people, and totaling about 3 million people worldwide, CMT is the most commonly inherited peripheral nervous system disease. CMT causes the peripheral nerves to stop working correctly; and this leads to muscle weakness and atrophy, joint changes, difficulty with walking, and hand issues. Some who have CMT have breathing issues, hearing impairment, vision problems, bladder issues, and GI issues. The disease progressively worsens over one’s lifetime, there is currently no treatment, the disease can’t be cured, and it affects everybody very differently from one another.” Sometimes, people will ask follow-up questions. Other times, we part ways with only a, “whoa,” and maybe they’ll recognize the name the next time they hear it.
My “elevator speech” has been a go-to for many years, having evolved only slightly since my initial CMT diagnosis. It’s very easy for me to throw it out there anytime I’m asked. Does it say enough about what CMT is as a whole that it could be adopted by anybody who needs a quick go-to description? Until a week ago, I thought it did and I thought it could. What changed?
Bicyclists as a Catalyst
Kate Lair and Kenny Raymond
For the first time, I attended the Charcot-Marie-Tooth Association’s Cycle 4 CMT fundraising event held annually the last weekend of August in Charlotte, Vermont. This event is huge and people from all over the place, not just locals, attend and/or participate. I met and spoke with many CMTers. Some CMTers were cycling participants riding a treacherous 40-mile course through the western Vermont mountains even though there were shorter less-challenging routes. Some CMTers were there to participate in non-cycling activities. Some were event volunteers. Some were parents who do not have CMT, but their child does (or children do). Some were members of the CMTA leadership and social media teams.
Some of the CMTers at Cycle 4 CMT used wheelchairs, canes, walkers, etc. Some CMTers wore leg braces. Some CMTers had breathing issues. Some CMTers had severely twisted and deformed feet. Some CMTers had hearing loss. Some CMTers had speech impairment. Some CMTers had <fill in the blank>. I’m confident there were many hidden symptoms that went unmentioned and unnoticed. Without a doubt, it was the most diverse single-source representation of what CMT is that I have experienced in-person. As I spoke with CMTers and as I looked around, it became apparent that my go-to elevator speech is grossly inadequate and under-represents what CMT is.
It’s well established that CMT can and does affect everybody differently, and even within the same family. CMT can cause many things. Not everybody who has CMT will experience all symptoms of CMT. The mix of symptoms, the severity of individual symptoms, the rate of disease progression, and the overall disease severity can be quite different for every CMTer. What one CMTer experiences cannot be used to gauge or to predict what the disease will be for the next CMTer, regardless of subtype. It’s one thing for me to read it, and another for me to witness these concepts firsthand.
Is There a Solution for the Question?
What is CMT? The answer to that question, as it turns out, is quite different for every CMTer. My CMT is different than somebody else’s CMT. CMT, for me, looks quite different than does CMT for another. CMT, for me, is twisted, contorted, crooked feet that have led to tendons tearing requiring corrective reconstruction surgery of my right foot (and upcoming surgery for my left foot). CMT, for me, is weakened hands that easily cramp, a knee that used to dislocate before corrective surgery, bilateral hearing loss, unrelenting fatigue, chronic whole-body pain, progressively weakening upper leg muscles, spine changes (kyphoscoliosis), premature degenerative joint changes, speech/vocal difficulties, and for me, CMT is breathing issues. For another CMTer, CMT is wheelchair dependency, is an inability to hold and use a pen or pencil, is 24/7 mechanical ventilation via tracheostomy, and is total deafness. Yet, for another, CMT is none of these things, or a is a combination of these.
What is CMT? True to CMT, there isn’t a one-size-fits-all answer. The answer to the proverbial question is unique to the CMTer who is asked. The answer is even unique to the healthcare provider and to the scientific investigator. There are wrong answers to the question, such as a suggestion that CMT is an autoimmune disease. While CMT might share symptoms with some autoimmune diseases, such as Multiple Sclerosis (MS) and Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) for example, CMT is decidedly not an autoimmune disease. Nonetheless, the answer to the burgeoning question is dependent on what CMT looks like for the one who’s giving the answer.
If you were to line up ten random CMTers—somebody who has CMT or somebody whose loved one has CMT, and ask each, “what is CMT?” each of the ten answers are likely going to be very different from one another. The differences are not born of inaccuracy or of a misunderstanding of their disease. The differences instead come from how differently CMT looks for each individual and from how each person individually experiences CMT.
What is CMT? For me, CMT is a cruel and often debilitating neuromuscular disease that looks very different from person-to-person. For me, what was once an easy answer to a complex question, or what was a complex answer to an easy question, has become exponentially more difficult to answer. As a CMTer, it’s easy to answer the question by simply describing what CMT looks like for me. As an advocate, however, I’ve learned my “45-second elevator speech,” while it gives a lot of information, is a disservice to the CMT community as a whole. The solution? I resolve to do better. I have to do better. I will do better.
About the Author
Kenneth Raymond was first diagnosed clinically with CMT1 in late 2002, at the age of 29. He was genetically confirmed to have CMT1A a year later. Kenneth has since devoted his life to studying, researching, and learning all things CMT, with an emphasis on the genetics of CMT as they relate to everyday CMTers. As a member of the Charcot-Marie-Tooth Association’s Advisory Board, Kenneth serves as a CMT genetics expert, a CMT-related respiratory impairment expert, and as a CMT advocate who is committed to raising CMT awareness through fact-based information rooted in the latest understandings of CMT. Kenneth has just published,
Charcot-Marie-Tooth Disease Gene and Subtype Discovery: The Complete Bibliography – Fall 2022 Release: A Desk Reference for the Everyday CMTer, the Practicing Clinician, and the CMT Researcher Paperback which is available on Amazon. Kenny also has an excellent website and blog to check out: expertsincmt.com
Kenneth Raymond is an administrator of several Facebook groups. He helps people with their CMT questions, especially those related to breathing and genetics. The CMTA is fortunate to have such a well-versed, well-educated Advisory Board member willing to work tirelessly for the CMTA community!
My son Yohan was diagnosed with CMT at 7 years old. We have no prior history of CMT in our families. Yohan has CMT due to a new spontaneous genetic mutation. He’s the first in our family to have CMT. Though Yohan’s CMT has thrown roadblocks and presented challenges in his life, it’s also made Yohan resilient, empathic, loving and kind.
A huge thank you to all our friends and family who have supported Yohan throughout the years. My husband, Gilles has always been so good at finding ways to spend quality time with Yohan, engaging him in so many activities: camping, horse riding, kayaking, and now, mountain biking. Yohan’s Uncle Chris has also had a profound influence on Yohan throughout his lifetime. Here is a chapter in their story.
Chris flew in to Claremont, CA to attend my Grad School Graduation. It was a total surprise!!!
Yohan’s CMT Story – Uncle Chris
By Yohan Bouchard
VT summers: me and Uncle Chris
Since I was 4 months old, every summer (and a few below-zero Christmas holidays) were spent visiting my mother’s side of the family on the east coast. Vacations in Vermont were a blast – often the highlight of my year. I have such fond childhood memories of our adventures, which included spending time with my grandparents, aunts, uncles, cousins and longtime friends.
Yohan, cousin Warren, my mom, Kevin, James, my grandmother, Uncle Chris, Aunt Mia and cousin Lila.
In particular, I spent a lot of time with my Uncle Chris; we’d go fishing, hiking, and swimming. In winter, he’d also take me skiing and snowboarding. But, as my CMT progressed, it was more and more difficult for me to keep up. I realized I was participating less and less in those outdoors activities, which we both enjoyed so much.
Snowboarding in VT with my dad and Uncle Chris.
Throughout the years, Chris and I had grown very close; he was always there for me regardless of my limitations. He knew my muscles were getting progressively weaker and noticed I was becoming more limited in my physical capacities. It was hard for both of us to embrace the effects of CMT, but we always managed to find alternative activities, like fishing, swimming and just some plain ol’ goofing around.
Goofin’ around with Uncle Chris and Warren
When Chris first brought up the idea of organizing a CMT fundraising event centered on cycling, I was impressed by his drive to actively raise money for a CMT cure. Witnessing his passion first hand, I too got excited by his vision which was to launch both an in-person and virtual Cycle event to fund treatment-driven research. I was convinced it would be a phenomenal successful, and I was not wrong. .
Over the last eight years, the Cycle 4 CMT has shown me just how far my uncle, and all my family and friends everywhere are willing to go to support me and so many others struggling with my CMT.
A surprise visit to the 1st Annual Cycle 4 CMT event
After the second or third annual event, I decided to face my fears and try to ride a bike again. My childhood adventures of being scared and unbalanced came back to haunt me, but I persevered. I wanted to show my Uncle Chris how much his effort, time and love meant to me. I biked around my college campus a bit, but that was the extent of my efforts.
Last year, with my dad’s encouragement and help, I gained confidence while I peddled on streets and swerved around people; I got back in the saddle. I was determined to actually ride alongside Chris and my friends on one of the Cycle 4 CMT routes. Of course, COVID had other plans, but it did not stop me. I did cycle in the Virtual Cycle (and Walk!) 4 CMT event with my dad and a group of friends over the Golden Gate Bridge in San Francisco. It was extremely fulfilling to do the actual ride with my dad and peers instead of sitting on the sidelines. My new electric bike was a game-changer!
Me and my dad, Gilles. We don’t go around obstacles, we face them straight on!!
I’m so pumped to go to Vermont this year and finally ride with my Uncle Chris in the 8th Annual Cycle 4 CMT. I will realize this dream as I want to show Uncle Chris how all his work has inspired me to face my fears and overcome them. I am extremely fortunate to have a supportive, loving family and an Uncle who is willing to go the extra mile.
Registration opens March 15, 2021. We are having both an in-person event in Charlotte, VT, on Sunday, August 29 and a virtual even from March 15-August 31, 2021, an anyone, anytime, anywhere can participate!!
Yohan and I had so much fun trail riding when we were younger. Oh, the stories we could tell!! I’ll never forget the time I stepped in a bee’s nest and ran for my life with Yohan on my back! He held on to my mane and stayed on. Phew! Close call!
When my friend got a little older, he rode me less and less. I thought it was my fault. Did I eat too much? Was he embarrassed about my being just a tad shorter than a real horse? Was I too messy? One day, we had a heart-to-heart. He explaining that he had CMT. At first, I was excited – Country Music Television? Yee-Haw! He’ls going to be famous – a Country Music Star! Nashville anyone? I was dreaming of lights, camera, pampering! I might even be on TV!
My enthusiasm was short lived when he explained that CMT stands for Charcot-Marie-Tooth disease – a progressive nerve disease that affects his hands, feet, legs, spine and balance. He just could not ride me anymore, and we were both very sad. But, he did right by me, kept me in his family and today I have the best life ever at the Horse Park in Woodside.
Yohan sees me every time he’s home from school and I want to celebrate his kindness, understanding and compassion. His CMT makes his nerves deteriorate and his muscles weak. He looks so happy all the time, but I know that deep down, he’s worried about what the future will bring.
“What’s up with the knee brace?” I asked 12-year-old Rylee, who was visiting from Pennsylvania for a couple of days. Head down, in a whisper, she told me, “My knee keeps popping out of joint. It hurts really bad when that happens. ” Just the thought of having my patella on the side of my leg for any extended amount of time makes me cringe. Yuk!
I will not stand for this. Will you?
Helping Yo with his drops!
“Ugh. Can you put these drops in my eyes?” Yohan groaned. He had just had eye surgery and needed drops every hour, on the hour. I almost said, “Buddy, you can do that yourself.” And then I remembered his tremor and weak grip strength. “I tried,” he grimaced, with water streaming off his cheeks, “but I missed!”
I will not stand for this. Will you?
Bethany and Elizabeth
I dread the thought of Bethany coming down with a cold because coughing takes energy and congestion robs her of the precious air needed to breathe effectively. Did you know that CMT can affect the nerves leading to the respiratory muscles? For some with CMT, the thoughtless act of breathing freely becomes a forced, challenging and anxiety-provoking undertaking, which may necessitate frequent visits to the ER. Not fun. Not fun at all.
I will not stand for this. Will you?
So, you see, CMT is much more than a funky way of walking, foot drop, high arches, and leg braces. CMT may also causes cramps, falls, balance difficulties, cold extremities, nerve, muscle and joint pain, curled hands and toes, altered reflexes, extreme fatigue, sleep apnea, hearing loss, etc. In short, CMT is a bitch!
I will not stand for this. Will you?
The most amazing thing about CMT is that we can fight it. Unlike many diseases, the genes that cause many types of CMT are known. The CMTA’s scientists are working tirelessly to stop or slow down the progression of CMT, and they are making headway. We’ve accomplished so much since 2008:
Highlights
• Clinical planning has started. Working together with the NIH and the MDA, we are developing our clinical infrastructure: new centers, more clinicians, patient information and history over time.
• We are developing ways to measure disease progression in people with CMT.
• We are starting to use cellular and animal models of CMT to help pharmaceutical companies test their drugs quickly.
• We are partnering with pharmaceutical companies and labs to apply breakthrough genetic therapies (like gene therapy, RNAi, CRISPR) to CMT.
• We will continue to expand our program to cover more forms of CMT.
Join me to raise the funds to bring a drug to market and rid the world of CMT. Big goal? Well, maybe, but why not dream big? We’ve got to start somewhere.
WE will not stand for this.
Imagine what we can do TOGETHER! Did you know funds are what stand in the way between us and a treatment for CMT? Not scientific understanding. Not resources. Not clinics. Not patients. MONEY. I certainly don’t have all the money needed to bring a drug to market, but with your help and the help of others, the money can be raised to support scientific research. It’s doable.
Chris Ouellette-The organizer of the Cycle 4 CMT
Want to help? Our family has put all its efforts into Vermont’s Cycle (And Walk!) 4 CMT event and thanks to friends and family like you, we’ve raised close to $650,000 over the past 4 years. That’s not chump change, friends.
We are now preparing for the 5th Annual Cycle (and Walk!) 4 CMT event, to be held in Charlotte, VT on Sunday, August 26. Every dollar counts. Any donation is valued. Spread the word.
To join our efforts to build a better tomorrow, check out our website: www.cycle4cmt.com and donate a little or a lot.
Here is how to start changing lives:
1) Register for the Cycle (and Walk!) event and/or,
2) Fundraise! Tell others why this cause is important to you and/or,
3) Spread the word and register a friend and/or
4) Sponsor a rider, a walker or the event itself and/or
5) Sign up for the after-party.
Thank you for offering a promising future to Yohan, Rylee, Bethany and the 2.8 million + people around the world with this debilitating disease.
“My high school years?” she shuddered. “After the doctors diagnosed me with polio at 13-years-old, they wanted to straighten my misshapen feet. So, for the next 5 summers in a row, my school vacations were spent either in the hospital or at home, immobilized, with heavy plaster casts weighing me down.” With raspy, uneven breath, Flora described those dreadful Mississippi summers as muggy, sticky and hot – really hot. “Neither the hospital nor my home had air conditioning in those days, so I was pretty uncomfortable – but I got through!” she added with her usual determination.
I first spoke with Flora in 2003, when I was getting to know the CMTA group leaders throughout the country. She told me that after her orthopedic surgeon “straightened her out”, she had left her polio diagnosis behind and moved forward with her life. She went to college, married her husband of 52 years – Billy Joe Jones in 1960 and had three children. After the birth of her youngest child, Cindy, she decided to stay at home to be a mother, wife, and homemaker.
Flora and her husband, Billy
Over the years, her legs weakened and her hands slowly lost function. In 1982, at the age of 45, she was finally diagnosed with Charcot-Marie-Tooth disease or CMT at an MDA clinic. Okay. There was a name for her progressive symptoms, but she wondered what she was supposed to do with the name. She couldn’t just “Google It” because home computers had not made their debut in society.
Luckily, by word of mouth, she heard about a CMT conference in Toronto, hosted by CMT International. No way was she going to miss this opportunity to learn and gather more information about CMT. Upon arrival, she was stunned to meet others with similarly-looking feet and hands – 200 other individuals with “the walk” including 30 people who admitted to breathing difficulties, like herself. One of her favorite parts of the conference was educating CMT clinicians about her own CMT.
In 1993, she was elated to discover a CMTA support group in her area. With her passion for spreading awareness and teaching others about CMT, it was not long before Flora stepped up as the leader of the Brandon, Mississippi CMTA support group. In fact, she involved the entire family in her mission and many weekends were devoted to mailing educational information, calling new members and organizing CMTA meetings.
Flora and Jeana Sweeney at the CMTA Support Group
Due to severely atrophied leg muscles, she lost her ability to walk at the age of 58, but that did not make one bit of difference. She continued to lead her group enthusiastically, informing the members about the CMTA, its research, and resources. Over the course of her lifetime, she touched innumerable lives, informed countless medical professionals and supported others who had a CMT diagnosis.
Toward the end of her life, she could barely use her hands, and her violent tremors made holding or sipping from a cup virtually impossible. Her paralyzed diaphragm made breathing harder and harder with each passing day and her weakened vocal cords affected her ability to talk. Yet, Flora did not let any of those worsening symptoms stop her from fulfilling her mission in a positive, cheerful and comforting way.
I just spoke to Flora a few months ago. She called to check in, to see how Yohan was doing after his foot surgeries. She told me he was always in her prayers. She admitted that her CMT was wreaking havoc on her body, but it would never, ever dampen her inner spirit. Even in her final months, she would not leave home without her brochures. She wanted to be ready to educate everyone and anyone who would listen to her about CMT. In a recent letter from Flora’s daughter, Cindy, she confided, “Even up to her last doctor’s appointment, she educated her doctors about CMT.” In February, Flora was given a new doctor, “a cute one!” she said with a wink. Super impressed that he really was interested in CMT, he even explained how he could help her live a productive life despite her limitations.
Flora and her daughter, Cindy
Following in Flora’s footsteps, I try to spread CMT awareness wherever I go, even if Yohan rolls his eyes out of his head like he’s screaming loudly. If we all speak about this progressive disease to our doctors, nurses, family, and friends think how many people would recognize the name, the symptoms, and the signs. “It’s CMT.” I say. “Charcot-Marie-Tooth disease.” And when the person looks puzzled, which they usually do, I remind them of the acronym – CMT. To make it stick, I joke that CMT does NOT stand for Country Music Television. And I might add, “ It’s the other CMT-the one that destroys nerves, causes muscles to weaken, and disables the young and old. It’s Charcot-Marie-Tooth disease and we desperately need a cure.” And a cure starts with awareness.
In memory of my friend Flora, who passed on April 1, 2018, at the age of 81 from CMT-related breathing complications, please help raise awareness of CMT. Think about it – even the most worthy causes won’t receive a dollar in donations if no one knows about them. Putting a face and a personal story on CMT may spur people into action, especially if they know their support will lead to a cure.
Flora, you are my inspiration to wake up every day and fight for a world without CMT. And now, I imagine you moving freely among the stars and dancing with angels. And I smile. I may not have told you during our phone conversations, but I admire you and love you deeply. Your memory will never be forgotten.
Last week, I purchased a top-of-the-line 4K LED Smart TV with enough options to bedazzle even the most technologically gifted. Some of the features were intuitive enough that I proudly disregarded the instruction manual altogether. To my dismay, I soon discovered that a good number of even the simplest functions were complicated, puzzling and downright impossible to comprehend even with the handy user’s manual.
New Toy – LED TV
Realizing my dependence on this pamphlet of how-tos, I reflected upon all the parenting guides I have purchased over the years, all dealing with every different aspect of the child imaginable: the terrible twos, sleeplessness, anxiety, positive discipline, the emotional lives of boys, tolerating teens, etc The one book I have yet to come across is called the “THE MANUAL: Raising Kids With An Unexpected Diagnosis (Like CMT, a Progressive Nerve Disease).”
My instruction booklet was not included in my take-home packet from the hospital when Yohan was born 25 years ago, and I still fantasize about getting my hands on a copy of this yet non-existent source of knowledge.
Initially, I learned to care for my bundle of joy by asking questions, reading a selective few of those parenting books I mentioned above, taking advice from others (even if unsolicited) and relied heavily on my own maternal instincts. Through trial and error, my husband and I, as do most parents, strove to raise and nurture our child to be a resilient human being, who would hopefully be happy, successful, compassionate, friendly, confident, etc….. None of these attributes are ever guaranteed, but parents can and do influence their children to a very large degree by modeling behaviors and values, including empathic listening, acceptance of the whole child, unconditional love, acceptance and positive discipline.
Born with unique dispositions and temperaments, every child will integrate what he or she witnesses, observes and experiences to form a personality, which is in a state of constant flux, molding to and shaped by the surrounding environment. Raising children is truly a humbling adventure, where perfecting parental skills comes through valiant efforts on the part of the father and/or mother to do the best they can at any given moment.
And just to keep us on our toes, life has this nasty habit of throwing wrenches into our well thought-out and admirable plans and dreams, forcing us to change directions or reroute our individual and family’s journey throughout life over and over again.
For instance, when parents are told that their apparently healthy and precious child has a progressive neurological disease called CMT, (or any other chronic illness or disability) the world as they knew it comes to an abrupt halt. For a while, time just seems to stop as the shock of reality works its way through to the senses. With no current treatment or cure, CMT is a group of diseases whose effects vary greatly from one person to the next, even among members of the same family. The fear of an uncertain future for our beloved child creates a chaos so disruptive, parents may inevitably experience and re-experience a whole gamut of different feelings anywhere from grief, rage, disbelief, depression, anxiety, sadness, hopelessness, to guilt and disappointment. This flurry of unyielding and varied sets of emotions is unequivocally normal and expected in the face of such devastating and unwelcome news.
Stages of Grief
We immediately wonder what this diagnosis means for our child’s future – will she be able to play the piano, have children and fulfill her dreams as an actress? Will his legs remain strong, what about his basketball career, and just how much will my son be affected? Will he/she become more or less disabled than me, than my mother, than other family members? As concerned parents, we all have a tendency to get ahead of ourselves by asking a million questions about the fate of our children by continuously wondering and inquiring about what the future has in store, trying to predict what cannot be foreseen.
To top it off, in the midst of this traumatic news, unsettled parents must return home to their children, bearing the intolerable news that will inevitably change the lives of every single member of that particular family. How hard it is to remain calm, in control and at ease after you’ve been hit with the CMT hammer! In these delicate situations, let’s not forget that children are savvy readers of parental anxiety, tension, and stress. They are inexorably influenced by our attitudes, opinions, and expressions as they learn a great deal about themselves by watching, listening and absorbing all the subtle messages left behind in conversations to be had both in public and in private. They definitely do not wish to see us devastated by their disease (even if we are) and need most of all to be comforted, supported and understood.
So, when a parent unintentionally acts out his or her intense sadness, despair and anxiety in front of their children, the child is sure to take it all in, every bit of it. If our children receive messages confirming that their own situation is hopeless and the future bleak, he or she will surely feel out of control and helpless in the face of upcoming and ongoing adversity. However, if our kids are met with reassurance and optimism, they will be more likely to cope adequately, if not conquer the intermittent hurdles that are bound to appear throughout their lives. So, the quicker we as parents learn to “deal effectively” with the challenges presented by CMT, the quicker our children will build the necessary coping skills and resilience to live well despite this disease.
Let me qualify the expression “dealing effectively with CMT” as an extremely subjective experience, which takes on a different meaning for each and every one of us. Coming to terms with your child’s progressive disease and limitations takes a lot of time and energy, and as you already know, this does not happen overnight, if ever at all.
There are still moments when I am angry at this disease and obstinately think of Yohan’s CMT to be the ultimate definition of unfair lots in life, followed by a pathetic, “Why me?”, “Why him?”, “Why us?” I usually manage to calm down by focusing on what he can do, by living in the present moment and by appreciating the gifts of today. I also fervently practice replacing my negative and catastrophic thoughts with a more positive and realistic perspective which encompasses a broader, less self-centered approach to challenging situations.
The brutal reality is that I cannot control his disease or make it go away. However, we as parents are far from powerless and impotent. On the contrary, by sharing an unwavering hope for the future, role modeling coping mechanisms such as humor, optimism, faith while remaining connected to others for support, we are fostering resiliency and courage in our children, traits on which they will rely heavily today, tomorrow and the days to come.
Let me reiterate that as parents, we have the capacity to guide and support our children, despite the absence of that darn manual. There are always silver linings to all black clouds, you may just have to look for them. Hurdles and stumbling blocks exist to a greater or lesser extent in everyone’s life and many times, these challenges will bring families closer together or even offer a deeper, more meaningful purpose to life itself. Whatever afflicts us or our loved ones and no matter how severely, life is truly what we make of it. By planting the seeds of hope, confidence, and self-assurance, we are offering our children the right to a bright and fruitful future.
Whether it be CMT or some other uninvited disease, our children will have acquired the tools with which to triumph over whatever may befall them, because YOU, as parents, have given them the means. No one ever said that a parenting is an easy endeavor, but your hard work, time and patience is and will make a marked difference in the minds and lives of your children and the generations to come. Manual or no manual, your kids will be forever grateful, which I deem the best award a parent could ever receive.
“His test came back positive for what? Sure, that explains a lot, but what’s it called again?” I asked stunned and a lot bewildered. “CHär/- Kät/ -Merēd -TOOTH, which sounded just wrong when he said it. I guess it sounds strange ANY way you say it, but he was completely butchering the French pronunciation of my son’s new disease (we are all French – can you blame me?) The take away was that our beloved 7-year old son Yohan had a progressive disease of the nerves, WITH NO TREATMENT OR CURE, which would make his muscles weak and useless over time. I felt dead inside – for a very long time.
Alpine Slide, Stowe, VT
My world shattered into millions of pieces that day, and I never thought we’d be able to pick up all the scattered bits to reformulate our dreams, our hopes, and our wishes for our son and our family. This reassessment took time, effort, and a lot of soul-searching, but we managed to accept the diagnosis and manage the Charcot-Marie-Tooth disease or CMT the best we could…. one day at a time.
As a mom, it was tough watching my child struggle with pain, braces, physical limitations, and obvious differences. Maternal instinct ordered me to protect, shelter, cajole, and, especially, do something—anything—to make the world a friendlier, more secure place for him.
For a while, school also became an inhospitable place, and bullies had their way of ruining a perfectly good day. Yohan’s self –esteem and self-confidence took major hits and his anxiety skyrocketed. The more I tried to lessen his burden by catering to his needs and lightening his load, the more resentful and withdrawn he became. Unknowingly, I was giving him the message he should not go out of his comfort zone because the world is a dangerous, scary place. And, I was setting him up to be reliant on me for simple tasks he was able to do all by himself.
We found an excellent therapist whose specialty was counseling kids with medical issues. Our goal was to empower him by making him accountable for his actions, giving him more and more responsibility, and providing him the space he needed to become autonomous and independent.
Sounds pretty good on paper, but implementation was another story.
On one of our many trips to Vermont, Yohan wanted to try snowboarding. I subtly, but unsuccessfully tried to talk him out of it because I did not want him to get hurt nor fail. He has CMT-related back issues (kyphoscoliosis), tight calves and heel chords.
Kyphosis + Scoliosis = Kyphoscoliosis
I assumed the worse – in my frightened mind, he had at least a 75%, maybe 80% chance of falling in the powdered snow, way over his head, and suffocating because he would not be able to stand up.
First Snowboarding Adventure
With the least amount of enthusiasm you can imagine, I rented the snowboarding equipment, grumbling under my breath the whole time, and when father and son left early one morning after Christmas, I stayed home and tried to keep very busy, blotting out what was happening on the slopes.
Later that day, after what seemed like an eternity, Yohan burst through the door, still in one piece and with a look of content satisfaction on his face. “I loved it!” he blurted out proudly. “I’m going to take this on seriously! I had such a great day!”
Like many first-time snowboarders, Yohan took a good many tumbles and falls in the snow, but he was confident in his abilities. He knew what he wanted, so he left home with determination and a can-do attitude, and came back fulfilled with a sense of accomplishment.
That event was followed by many more like it and served to reinforce what I already knew as a parent but still found difficult to wrap my head around. Even though Yohan has CMT, there are many things he can do with the right support, guidance, and freedom. Gilles, my husband was exemplary in providing many unique opportunities for him to explore his surroundings. An avid skier, mountain climber, biker, etc….he went out of his way to find activities that he and Yohan could do together, as a team. I am so grateful for my husband’s patience, effort and time with Yohan, as his childhood was full of fun adventures and learning experiences. I wasn’t as thrilled about some of these outings at the time, but I usually saw the photos after the fact and they speak for themselves-they have memories- good and bad- to last a lifetime! As parents, if we do not encourage our children to dream big, they might never know all the beauty, wonder, opportunity this world holds.
Kayaking with Gilles and friends
Yohan with Athos, Gilles with Chyna
Yohan is scuba certified, thanks to his dad.
Do you remember the movie about the life of Ray Charles, “Ray”? Despite his total and permanent blindness at the age of 7, Ray Charles’ mother treated him the same as any other child. He was made to do his chores, learn to get around without a cane, and fend for himself. “I won’t be here forever,” she repeatedly told him. Harsh though her treatment of the young Ray seemed, their story is filled with passion, love and many teachable moments. As hard as it may be, and still is, I have witnessed Yohan’s challenges, disappointments, and heartbreaks. But I no longer worry as I am confident he has the emotional fortitude to get through just about everything. If there is just one gift with which I wish to leave him, it is the knowledge that with an open and positive mindset, he can and will achieve his heart’s desire.
“Who is that girl?” she asked, squinting warily while jerking her chin forward like a rooster, not so discreetly pointing out the slim, well-dressed woman in question. “She doesn’t have CMT! Look at those heels!! Pfft! Forget about it. She’s a fraud!” It’s true, Jeana did not appear to have CMT on the outside, but her past revealed a different reality. Surgeries on both feet when she was only 16 helped her gait immensely, enabling her to walk brace free today.
However, if you look real close, her pinky toes look funky, betraying a harrowing brush
.
Jeana’s pinky toe reacts to the surgeon’s scalpel.
with a surgeon’s scalpel. “No need to worry about the little toes on each foot.” the surgeon grinned. “I simply removed all the bones! All fixed!” So, instead of hammer toes, sticking up and out, she ended up with cute, floppy, puppy dog ear toes, which prove to be quite the challenge when wearing sandals.
Floppy toes, like floppy ears, have a mind of their own!
People’s CMT vary dramatically from one person to another, and telltale symptoms of foot drop, muscle wasting, fatigue, pain are not always super obvious. So, to my embarrassment, I often forget she has CMT.
But, I forgot you have CMT!!
How many times has CMT gotten me into trouble? When Jeana and I organize CMTA conferences together, we always do our best to make sure that everything is handicapped accessible; tongs are not used, tables are separated, leaving enough room for scooters and wheelchairs to pass, boxed lunches are chosen over buffets. Inevitably, no matter how much we prep the hotel staff, someone always seems to make a mistake, and we have to think fast on our feet to rectify the situation.
At the Patient and Family conference we held in Los Angeles a few years back, I remember the room being stuffy and hot. After 90 minutes of sweating and fanning ourselves with the paper programs, we took our first 15-minute break. “A big round of applause for Dr. So and So…what an informative presentation!” I exclaimed into the microphone. “Now, let’s take a few minutes to stretch and quench your thirst with some nice, refreshing beverages. We’ll see you back here in 15 minutes.” I walked out into the hall, and what do I see? Big, heavy pitchers of water and lemonade. Merde!
Making life difficult for people with CMT.
We quickly asked family and friends without CMT or hand weakness to serve the drinks during the break. After about 5 minutes, I look over at the drink station and our beverage volunteer happened to have wandered off and just disappeared into thin air. People were thirsty….parched even and getting more and more impatient while shifting their weight from left to right, left to right just to stop from teetering over (keeping your balance while standing is difficult with CMT).
I ran over and filled the empty spot for a couple of minutes before my little eye spied Jeana, who was talking, and talking and talking (no surprise there, right?), to a conference attendee.
I spied Jeana with my little eye.
“Jeana,” I blurted out frantically and a bit too harshly, “if you can’t find someone to stay at the water station, just stand here and serve the beverages to these poor people with CMT who are struggling.” She looked at me in disbelief. Her face expressed what she was thinking. “Really? You are asking me to fill glasses, dumb ass? I too have CMT!” But being the mature and respectful person we’ve all grown to admire and love, she nodded her head and made her way to the water station and tried her best to serve our conference clientele. When I realized what I had asked of her, I regretted it….immediately. Not because I made her suffer, but because she would never let me live this situation down….EVER! As much as she did not say in the moment, she let her thoughts be known loud and clear after the conference. In fact, she won’t hesitate to bring this up when she needs a little extra material to tease me with. I hear her voice now, “Oh, really? I’ve got a better one. Elizabeth, remember that day when…. “
Sassy!
People with CMT are fighters with motivation, determination, strength, and willpower. Some are a bit sassy, too! One day, wearing my very concerned and sad face, I said something like, “Bethany, I don’t know how you do it every day. Just putting on socks, braces, and shoes takes so long. It all seems so limiting.” I was attempting, albeit poorly, to relate to her emotionally in some small way. Thankfully, I have a Master degree in Counseling Psychology, which makes communication with people from all walks of life so much easier (Like Judge Judy below, I’m inflicting some heavy duty eye rolling on myself right now).
If you know Bethany, she usually thinks through her answers before responding. Not that day! That fine afternoon she was quick and sharp, replying without missing a beat, “Yeah, it’s not the best, but I feel fortunate that I’m walking. From wheelchair to walking is a pretty huge deal.” There was a short hesitation before she emphatically reminded me that she was able to walk much further and longer than I can…a LOT further and a LOT longer. “You are limited by your foot pain. My braces have set me free!” she replied without flinching.
IN YOUR FACE! OUCH! Insert knife and rotate slowly 3 times. I mean, what do you say to that? ……..Exactly. I said nothing and followed her progress as she trained to walk a 5-day 40 Mile Trek of Peddars Way in Norfolk, England! She succeeded and came through with flying colors!
Bethany walking and training. I am in the picture for effect only. 🙂
Just Ask
I had spoken over the phone to Bethany quite a few times before she moved to the Bay Area in 2012. We had some great conversations, talked about volunteer opportunities and CMTA-related projects. When she moved here, we made a lunch date. I drove. On the way to the restaurant, I asked 100 million questions to which she sequentially answered, “Yes. No, I don’t know” over and over again until I got really bad cotton mouth from talking too much. So, I stopped blabbering and lived painfully through seconds upon seconds of dreadful silence (The longest ten seconds I’d ever experienced – it felt more like 10 hours- can you tell I’m an extrovert and hyperactive?) Bethany started to loosen up by the end of lunch, and I caught a few glimpses of the witty and sardonic person living and breathing underneath that cloak of quiet reservation.
Heading back to the car, we crossed the road and I saw that she was struggling a bit to walk, but I did not know if she needed or wanted help. What to do? So, I did absolutely nothing. I pretended she wasn’t struggling and that everything was A-Okay. Walking a step or 2 in front of her, I heard a faint whisper, “Elizabeth?” I turned around to an outreached hand. “Can you give me your arm to cross the road?” she asked politely (her mother did a hell of a job teaching this girl manners). My elbow jutted out in a microsecond and off we went, arm in arm across the road. Walking harmoniously side by side, she interjected, with a mischievous grin,” Jeesh. You of all people did not think of lending a helping hand? I’m so disappointed.” WHOA! The girl is a live wire….a comedian! This snarky comment was proof that her dad was also very involved in her upbringing. From that moment on, we became forever friends.
Laughter Really is the best Medicine!
The CMTA held its first-ever leader conference in Las Vegas many years ago. Leaders from all over the US attended, forming bonds of friendship and caring. The first evening, after dinner, we all made our way to our rooms, preparing for a very long day ahead. Breakfast was at 8am sharp the following day. At 7 am, Pat D. our Director of Community Services at the time called me with an urgent request, “ One of our leaders needs help buttoning and zipping his pants.” Apparently, he lived with family and on his own, buttoning and zipping were practically impossible. “Why do I have to go?” I groaned. “Can’t we get Dana to go help him…man-to-man? Now, on the verge of yelling, Pat reminded me that, “Dana can’t button or zip his own pants, how is he going to button someone else’s pants?” Good point.
Zippers and Buttons: the enemy
So, off I go to room 3016. When he opened the door, I could tell by his red cheeks that he was quite embarrassed. I felt a bit awkward, but what were our alternatives? I could have insisted that he attend the conference in his boxers, but I’m not usually that mean. So, I simply knelt down in front of him, (please do not visualize this scene!) zipped and buttoned him up and made a joke about the entire scenario. It was a true bonding experience. The rest of the conference was a no-brainer compared to that experience.
To all my friends with CMT, thank you for trusting me with your struggles, accomplishments, thoughts, and anxieties. And thank you for your patience. I’ve learned so much from every single one of you and continue to learn more every day. And, when I mess up, let me know – my closest friends don’t let me off the hook, why should you?
Good Friends Are Hard To Find (which can be a very good thing). From Left to right: Me, Bethany, Jeana
New Toy – LED TV
I said something like, “Bethany, I don’t know how you do it every day. Just putting on socks, braces, and shoes takes so long. It all seems so limiting.” I was attempting, albeit poorly, to relate to her emotionally in some small way. Thankfully, I have a Master degree in Counseling Psychology, which makes communication with people from all walks of life so much easier (Like Judge Judy below, I’m inflicting some heavy duty eye rolling on myself right now).
