(Written for Katerina’s CMT Blog: Beauty in the Pain: https://kballsmith.wixsite.com/blog)
Who is Katerina?
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.
When I first spoke with Katerina, I was blown away by her tenacity, courage, and coping skills. Katerina was a featured guest speaker on the CMTA’s official podcast, CMT 4 Me – listen here: https://podcasts.apple.com/us/podcast/katerinas-story-living-life-from-a-new-perspective/id1585138996?i=1000548328022Listen to her podcast, subscribe to her blog. She’s a gift to our community! xoxo
“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
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.
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
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.