Raising a Child with CMT: Our Story

(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=1000548328022

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


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.

Never Say Never: How an Ebike Rocked Our World

The training wheels came off my own bike so long ago; I’d forgotten the emotions, challenges and vulnerable feelings of trying to balance on two wheels for a few pedal strokes without crashing to the ground. In fact, I had always taken riding a bike for granted until my 5 year-old son, Yohan, attempted to ride his bike without stabilizers. The experience was stressful, defeating and frustrating.

“This is not fun. Not fun at all. I’m done.” he said as he walked slowly back in the house, head down. “I keep tipping over. I can’t get my feet on the pedals. I’m going to die out there. Biking’s dangerous and stupid!!” When Yohan sets his mind to something, there is no going back. He gave up biking on the spot – forever?

Fast forward 15 years to the excitement of leaving home for University. Yohan was thrilled to have been accepted to Pitzer, a small college in southern California, expanding over 35 acres of relatively flat land. At 20 years old, Yohan’s arches had become extremely high, his toes curled and his ankles, unstable. Chronic burning pain and fatigue were also issues to taken into consideration. Pitzer did not offer transportation between classes, so we discussed alternative solutions.

How about trying a moped, a scooter, a golf cart, or a Segway (I was half joking about the Segway)?  Every single idea was shot down in a blink of an eye, until Yohan’s dad mentioned a bike. There was a pause before Yohan said, “Lemme think about it.”

Segway I2 SE – Blue Ridge Electric Fun
Segway? No Way!

The following week, we were looking for a bike with a low crossbar. “Oh, you are looking for a girl’s bike?” joked the salesperson. No one laughed. “Idiotic comment.” I muttered under my breath. “No, we are looking for a low top tube for people who have a hard time swinging their leg over that bar.”

At about the same time we purchased Yohan’s bike, my brother, Anthony, happened to be in town. He spent an hour with Yohan in our long driveway, providing the guidance, confidence and tips Yohan needed to succeed. With a little practice, Yohan overcame a lot of his fears, stayed upright and felt comfortable enough to bring the bike to campus, where he used it a handful of times to get back and forth to class.

Look Mom! No training wheels!

Riding a bike on campus comes with its own challenges, including other student bikers doing wheelies, skateboarders weaving in and out of people, inattentive students tuned into their cellphones, etc. At graduation, we packed up all his belongings, minus the bike, which was in a state of complete disrepair, still attached to a bike rack, with a kryptonite lock whose combination had been long forgotten.

Just when we thought biking would never be in Yohan’s future, we rented a Scott e-bike during a trip to Tahoe….and overnight, a cyclist was born. He was able to go farther, faster, and for the first time in his life, could accompany his friends and his dad on some longer rides. It has a low step-through design (aka a girl’s bike), and in pedal-assist mode, you still get a great work out and have backup power when needed.

Photo Credit: Yohan’s friend – the one and only, Vincent Billard

So, this year, for the VIRTUAL 7th Annual Cycle (and Walk!) 4 CMT, Yohan rode his e-bike across the Golden Gate Bridge, up the Marin Headlands, and back for a 20 mile ride with 2200 feet of climbing. Never would we have thought that the child who could not ride a bike due to lack of balance, sensation, and confidence would one day ride over the Golden Gate Bridge, maneuvering around pedestrians, cyclists, kids, dogs, etc… There were setbacks, spills, road rash, fatigue, but with the support of friends, family and our CMT community, he conquered. The smile says it all….and more! Thanks to all our supporters and cheerleaders – You are CMT Champions!

To learn more about the Cycle (and Walk!) 4 CMT, click here: www.cycle4cmt.com

The smile says it all!

Pony Takes Stand to End CMT


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.

This year, I’m giving back by walking for Yohan. I’m not that into exercise, so this is going to be challenging. I may not be the youngest horse in town, or the fittest, but I sure am the most determined. Please sponsor my walk. I’m walking for Yohan and all my friends with CMT. I’m walking for all who can walk no longer. I’m ready to go the distance for you. Please sponsor me: https://cmta.akaraisin.com/pledge/Participant/Home.aspx?seid=19065&mid=9&pid=4927675&fbclid=IwAR2W9g_HUpB0SXYMkphUJdpnCESvOz9E0VDy8O25VnbGoUk8fEdIzB9VMiU


And here’s the best part – for every $10 raised, I get a carrot! So give generously!! xoxo

Your friend,


PS: I chose $2,600 for a goal – Yohan and I are both 26, so I figured $100 for every year lived would be a good idea. Help us reach our goal!

Athos and Yohan

It’s CMT Awareness Month! How Much Do You Know About CMT?

CMT Awareness Month Quiz – How Many Will You Get Right?

Last year, I worked on a version of this quiz for CMT Awareness month. I decided to revamp the quiz by adding a few more questions, rephrasing some of the questions and adding detailed answers. I hope you enjoy the quiz and share with others to spread awareness of CMT.

1) If you suspect you have Charcot-Marie-Tooth (CMT) disease, who would you go see?

a) A shark expert

b) A dentist

c) A psychiatrist

d) A neurologist


2) What year was CMT discovered?
a) 1836

b) 1886

c) 1942

d) 2010

3) How many people are estimated to have CMT worldwide?

a) 45 million

b) 2.8 billion

c) 150,000

d) 2.8 million

4) CMT is a:

a) blood disease

b) neurological disease

c) infectious disease

d) autoimmune disease

5) What causes CMT?

a) virus

b) the cause is unknown

c) gene mutations

d) parasites

6) Can someone have CMT if neither of their parents has it?

a) Yes

b) No

7) CMT:

a) progresses over time

b) can, in some cases, cause respiratory dysfunction

c) May cause curvature of the spine, or scoliosis

d) Is currently incurable

e) All of the above

f) None of the above

8) CMT affects:

a) the peripheral nerves (nerves outside the brain and spinal cord)

b) the brain & spinal cord

c) the teeth and gums

d) the voice of most Country Music singers

9) Nerve damage caused by CMT can lead to:

a) muscle wasting

b) loss of sensation

c) pain

d) difficulty with balance

e) all of the above

10) Common symptoms of CMT include:

a) drop foot, clumsiness, tripping

b) fatigue

c) difficulty holding grasping objects

d) high-arched feet, hammer toes

e) all of the above

11) This is what a typical CMT foot looks like:




12) CMT can affect the thenar muscles. Where are the thenar muscles found? 

a) foot

b) hand

c) shoulder

d) thigh

13) Many people with CMT wear braces to:

a) straighten their teeth

b) protect their backs

d) correct foot deformities and foot drop

e) Show off their cool western style

14) The Charcot-Marie-Tooth Association’s overall mission is to what?

a) Feed the hungry

b) Broker world peace

c) Find treatments for CMT

d) Whiten the teeth of the masses

15) This symbol stands for what? 


a) Hope

b) Future

C) Treatment

D) All of the above





1). –  Please see a neurologist. The CMTA has Centers of Excellence around the country who have multi-disciplinary teams specializing in CMT: https://www.cmtausa.org/resource-center/finding-help/cmta-centers-of-excellence/

2) b – In 1886,  Drs. Jean-Martin Charcot, Pierre Marie, and Henry Howard Tooth discovered CMT!

3)  – It is estimated that more than 2.8 million people have CMT, worldwide.

4)– CMT is a disease affecting the nerves which control the muscles ( unlike the muscular dystrophies which directly affect the muscles themselves).

5) c –  CMT is all about genes!

6) a –  CMT can develop as a result of a new mutation or spontaneous mutation. These cases are called “de novo.” A person who has a new mutation case can then pass the condition on to his/her children.

7) – e –  All the statements are true.

8) a – CMT is a group of inherited disorders affecting the peripheral nervous system, a network of motor and sensory nerves connecting the brain and spinal cord (the central nervous system) to the entire human body.










9) e – All the above. Yes, really!

10) e – CMT affects the longer nerves first; therefore, symptoms tend to start in the feet and hands and work their way up the legs and into the forearms, respectively.
Symptoms include, but are not limited to:

• Weakness in the feet, ankles and potentially legs
• Difficulty lifting the foot at the ankle during walking (foot drop)
• Depressed tendon reflexes
• Absence of development or loss of muscle bulk in feet and possibly legs
• Awkward or higher than normal step
• High foot arches (pes cavus)
• Curled toes
• Calluses and blisters on the feet
• Frequent tripping or falling
• Decreased ability to run
• Decreased sensation or a loss of feeling in feet and potentially up the legs
• Discomfort/pain in the feet
• Frequent twisting of the ankles
• Muscle cramping, especially in feet and lower legs
• Weakness in fingers and hands
• Decreased fine motor control
• Difficulty with fine motor tasks, such as using buttons and zippers
• Difficulty opening jars
• Decreased grip endurance
• Absence of development or loss of muscle bulk in hands and forearms
• Curling fingers
• Decreased sensation or loss of feeling in hands and potentially up the arms
• Tremor
• Overall fatigue
• Joint and/or nerve pain
• Hearing loss
• Breathing difficulties
• Sleep apnea
• Scoliosis (curved spine)
• Kyphosis (round back)

11)  True. CMT feet have very high arches and hammer toes, though some people with CMT can also have flat feet.

12 e –  The Hand!






13. d – Leg braces or AFOs (Ankle-Foot Orthoses) help with muscle weakness, muscle atrophy, foot drop and







14)  The CMTA’s mission is to….. support the development of new
drugs to treat CMT, to improve the quality of life for
people with CMT, and, ultimately, to find a cure.

Our vision … a world without CMT.

15) – d  – All the Above!

STAR  oe Strategy to Accelerate Research is the CMTA’s research initiative created with one goal in mind – to find treatments to slow, stop or reverse the progression of CMT.  Learn more  here: https://www.cmtausa.org/research/our-star-strategy/


Let me know how many questions you got right! Got questions? Leave them in your comments!


SHARE with others. Teach family, friends, and colleagues about CMT during CMT Awareness Month!


Ironing Out the Wrinkles of Life-A CMT Story

“These shirts look fine. Why do I have to iron them?” Yohan asked with his serious face.  As he held the shirts at arm’s length and brought them closer to his eyeballs, squinting to make out the “wrinkles”, I pointed the way to the iron and ironing board.


Still not game, he shared an idea, “How about if I just drop them off at the dry cleaners?  Isn’t that what you used to do with Gilles’ shirts?”  Damn, that boy has a great memory, I thought.

In all honesty, I used to hate ironing men’s dress shirts. When Gilles worked in a corporate environment, I would try and try, in vain,  to produce crease-free shirts but for every wrinkle I smoothed, 2 more would appear. Obviously, I would not be the best of teachers, but once we got down to business and the drama and comedy died down, he made progress (watch the clip below).

Here’s his first try:




On a more serious note, let me give you a glimpse of Yohan’s life today.  He’s just completed his first year of Graduate School at Claremont University where he’s studying Positive Organizational Psychology.

Over the summer, Yohan is interning at a local company, Mind Garden. He’s loving it!

First Day of Work – Look at the nicely ironed shirt!

Mind Garden is an international publisher of psychological assessments, providing tools to facilitate positive personal and organizational transformation. He’s enjoying the people, the work, and the experience. On Fridays, he takes calls for the CMTA, helping others navigate their way toward finding solutions and information about CMT or Charcot-Marie-Tooth disease.

Mind Garden

It’s a joy having him home for the summer. He’s always joking, laughing and telling stories. And, I love listening to how he perceives the world around him. For example, when he looked at the ironing board, he asked why it was in the shape of a surfboard.  He is also convinced that “It is way too small for ironing. In fact, it’s so narrow, only a teensy part of the shirt fits on the actual board!.” I suggested he create a new type of board and make millions after pitching his new design to the folks on  Shark Tank!

When I showed him a new piece of artwork featuring barn owls, he pointed out how the owl heads look like sliced apples. That imagery had never grazed my mind, but he’s right! My world is changing before my eyes.


Apple Faces


I just came back from a trip to see my family in VT and to help my brother, Chris, promote the  Cycle (and Walk!) 4 CMT event (www.cycle4cmt.com). Yohan took good care of our very needy and spoiled cat, Tortellini. This cat, turning 14 in the month of September, is no easy keeper. She eats 4-5 cans of cat food per day and drinks tons of water due to some minor kidney problems. What goes in must come out! That’s right, he had litter box duty, but never once complained (that I know of, at least!).

Tortellini also has hypothyroidism, which necessitates rubbing a medication in her ears twice a day. And that’s not all…..he played with her, gave lots of loving and sent me photos /videos to prove she was still living, breathing and pampered!


Lastly, out of sheer frustration, he’s earnestly attempting to organize me, but that’s a ginormous job. It’s definitely not a summer project because it takes a lot of time for new neural connections to be established in the brain. A lot of time….years even.

Nevertheless, I’m mostly enjoying the experience which is creating more mindfulness in my life – I’m living in the now, and thinking less about “what’s next.”  If you asked Yohan, he’d probably tell you that my progress is painfully slow but baby steps in the right direction are better than regression (which will inevitably happen sooner or later.)


Regarding his surgically-altered foot, he’s doing pretty well. His foot is still very sensitive and the nerves continue to be fussy, but he’s more mobile than ever before. He has drop foot on the foot that was not reconstructed, so he walks heel-toe, slap, heel-toe, slap, heel-toe slap. He’s adapted to this new gait and is in no hurry to have a third surgery. He is happy just the way he is, which is all that really matters.

The only big plans we have for the summer are going to Vermont to participate in the Cycle (and Walk!) 4 CMT on August 26, 2018, in Charlotte, VT. He’ll be walking in the event and raising money to advance CMT research.

Yohan and Uncle Chris

I am so proud of Yohan. I know in my heart he is resilient and will find ways to surmount obstacles that try to block his life path. In fact, while I was away, he discovered the wrinkle free setting on the dryer….smart kid! No more ironing, no more wrinkles!

He also knows that his family and friends stand strong and are fighting this degenerative disease beside him. And by getting involved with the CMTA, he is advocating for a world without CMT. For this, I am extremely grateful.

Well, I guess I’d better stop here. My personal assistant just asked me to put my keys where they belong and to throw the empty cat can and lid in the recycling-after it is rinsed out, of course.  Apparently, I’ve been slacking!


Support Group Meetings – Should I Stay or Should I Go?

“Can you be the elevator guy?” I asked.  “When people walk in, introduce yourself, show them to into the elevator, push the down button and point out the way to the meeting room. Got it?”

“Whatever” he sighed, looking exaggeratedly bored.

Going Up?

I don’t get it. 5 years ago, he absolutely loved pressing those elevator buttons. I mean, it used to be a whole thing.  When he was with his little friends, they fought tooth and nail to be the one that got to choose the direction of our destiny. There would be meltdowns, tantrums until each had had a turn. Now he had the run of the place and he was bored?

I was a little anxious about bringing 10-year-old Yohan to my first CMTA support group.  At that point in time, we had not met anyone with CMT. This would be our first foray into the CMT community and we had no idea what or who to expect. Would there be only old people there, relying on canes, bending over walkers, or sitting in wheelchairs, completely disabled by the harsh effects of a lifetime of CMT? How would Yohan react to the young and/or old whose CMT had progressed to the point of curled hands, atrophied legs, skinny calves and high-arched feet?

I couldn’t help asking myself if  I was on the verge of making another very dumb and costly parent mistake?  I imagined the weekly psychotherapy bills I’d be paying as a senior citizen, due to having caused him a lifetime of trauma and PTSD. “She made me attend these horrible groups …..and left me there by myself……,” he’d lament while lying on the therapist’s couch.

Therapy – forever?

In retrospect, I too was concerned about how I would feel about glimpsing into the possible future of my own son’s life with advanced CMT.  Having a change of heart, an inside, harsh voice scolded me, “You should have left him at home! What were you thinking?” Darn. Why didn’t I think about asking Dr. Spock, the world-renowned pediatrician?  Now it was just too late. Time to bite the bullet.

As my future CMT family made its way through the doors, I blocked out the negativity and threw myself into the meeting –  greeting, talking, explaining, introducing; there was no time to worry about the possibility of Yohan’s PTSD reaction, the therapy bills, the nightmares, the medication prescribed for anxiety, the mounting debt.

The clock struck 2:00 pm and most everyone was there, including the elevator guy, Yohan.  I asked him to take a seat in the circle, along with the other attendees while I ran back upstairs to make sure there were no stragglers, people who’d lost their way and could not find the room.

Terry and Yohan, 2 years ago

When I walked back to the room, I overheard someone complaining to one of the attendees, Terry, who has become one of our very good friends over the years, “I hate braces too. They suck. The plastic digs into my leg and makes my calf itchy and red. Does that happen to you, too?”

Rounding the corner, I looked up and was dumbfounded to see Yohan engaged in deep conversation with Terry and a few other of the attendees,  commiserating about living with CMT.  I breathed a sigh of relief – he had found his people.

He made a lot of friends that day, friends who follow his progress and support his CMT journey. These first interactions were instrumental in his acceptance of the disease and his willingness to get involved with the CMT Association, from leading youth groups, speaking at CMTA conferences, spreading awareness, and even fundraising for a cure.

Yohan and Gail – Reunited

Today, Yohan is in grad school, majoring in psychology. He’s had many ups and downs as his CMT has progressed, but those first relationships served as anchors, grounding and supporting him when times got tough.

Home for vacation just a few weeks ago, we spent time with Jeana and Rylee Sweeney. As I watched him with 12-year-old Rylee, he naturally emulated the love and compassion he experienced with the people who first wholeheartedly embraced him at that first group meeting. It was a beautiful scene to witness.

Rylee and Yohan

I’m thankful Yohan attended the branch meetings and found a way to manage life with CMT. He hates the disease, and so do I, but what choice do we have? He knows that everyone with CMT evolves differently, and he is not worried about the distant future. He just tries to get through each day as best he can.

He also believes in “playing it forward” –  he enjoys taking the time and offering love, understanding, and compassion to the  younger generations who are trying to find a way to live well with CMT.

And me? I’m just thankful it all worked out, and I’ll have enough money for retirement. Therapy is expensive!

CMT, Carrots and Cones- Rare Diseases to Care About

February 28 was Rare Disease Day!!

rare disease day



Is that what you are thinking?  Hold on. Before you get all judgmental on me, let me explain why I believe Rare Disease Day to be a noteworthy event.


Rare Diseases- The Backstory

Passed by Congress in 1983, the Orphan Disease Act defined a rare disease as a condition that affects less than 200,000 people in the US. This piece of legislation provided incentives, like tax cuts, to encourage pharmaceutical companies to develop medications for rare or orphan diseases.

Here are some Rare Disease Statistics:

-There are over 7000 different types of rare diseases.

-25-30 million people in the United States are living with rare diseases. That’s 1 in 10 Americans.

-It is estimated that 350 million people worldwide suffer from rare diseases.

-80% of rare diseases are genetic in origin.

95% of rare diseases have not one single FDA approved drug treatment!!

My son, Yohan, has CMT or Charcot-Marie-Tooth disease. Though it is known as an inherited disease, Yohan’s rare disease is the result of a spontaneous genetic mutation.  I guess these things gotta start somewhere. There is currently no way to slow down the progression of CMT.


Over the years, Yohan has literally tripped and stumbled, learning to manage this diagnosis and its symptoms. Progressive in nature, CMT gets worse over time. So just when you think you’ve reached status quo, WHAM, something else goes wrong. It’s the nature of the beast – the stuff that life is made of.



So, having CMT is bad enough, but then life gets even more complex when:

-You trip and break your kneecap.






-Your tremor is so apparent that a friend tells you that maybe cold turkey is not the way to go.

– Your fingers go rogue, making it impossible to grasp your cell phone before it falls into the port-a-potty. To make matters worse, you panic and attempt to retrieve it. Ewwwwwwww! But, it no longer works. Shit happens!








-You accidentally hit “send” on that that email no one was supposed to see. Monday morning is going to be a bitch.








You are suddenly diagnosed with a second rare and progressive disease.

Yes. Really.

No one ever made a rule stating that one rare disease per person is the maximum you can have. Some lucky people get none, and others get 2 or even more.

This past summer (2017) Yohan was diagnosed with a second rare disease that has nothing to do with CMT. It’s called Keratoconus (Carrot-A Cone-Us), which also has nothing to do with carrots and a lot to do with cones.


With Keratoconus, the clear, dome-shaped tissue that covers the eye (cornea) thins and progressively bulges outward into a cone shape. It is also progressive in nature.

THANKFULLY, there is a treatment to slow down the progression. It’s called Corneal Collagen Cross-Linking (CXL) whereby Riboflavin or Vitamin B2 is used to strengthen the cornea. Unfortunately, this procedure is not FDA approved and still in the investigational trial phase. Non-FDA approved means that insurance will not cover the procedure, so I guess we’ll be paying out of pocket.

Rare diseases are expensive.

The shock of the diagnosis is fading, and we are all coming to terms with the news. Compared to foot surgery, this “should” be a breeze. But, I have trained myself never to use the word “should” because it sets unrealistic expectations, ends up undermining me and adds weight to my already present feelings of anxiety, stress, and lack of control in the world.







My first reaction to unpleasant or distressing news is to stick my head in the sand, even if I might suffocate. Instead of facing the facts head-on, I hide out for a while and do a lot of self-talking before I can come up for air and move forward. And I’m not even the one who needs the eye surgery!

Where I Hang Out Most Days

How’s Yohan taking this? Yohan lives in the moment, in the now. And he is resilient. He doesn’t dwell on what might happen at some point in the future. He weighs the pros, the cons, seeks out good counsel and forges ahead. He must have got that quality from his dad as he sure did not learn it from me. On the contrary, I am learning from him….again. Funny how that happens.

Deep inside I know that whatever the future holds, we’ll all be able to handle the outcome. We always do.

But I first better get the sand out of my eyes or I might be undergoing a similar eye procedure!

CMT: An Obstacle To Success?


Yohan in PT – Prediagnosis

“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.


Archery is still one of his favorite pastimes.



9 Surefire Ways to Feel More Positive

Everyone gets down from time to time. When I am not in a good place, I try to think about something positive and uplifting. Sometimes, well okay, often,  my mind brings me to unusual places, which make me laugh. Let me share 9 of my thoughts with you. Do any resonate?

You are a miracle.

  • You are all winners. I often find myself saying, ” I never win anything.” Then, I thought about this statistic: According to scientists, it is estimated that we have a 1 in 400 trillion chance of being born. 1 in 400,000,000,000! So, let’s say that there are currently about 7.5 billion people living on the earth right now.  Let’s create  553 planet earths, each with 7.5 billion people.  Now, you have to randomly choose just 1 person from any of the 553 planets.  That person is you! That’s how incredibly lucky you are to be alive today. Crazy, right? We are all winners in the lottery of life.


  • Freedom rocks. There is so much beauty in the world and most of us have the ability to enjoy the air, sky, animals, friends, etc. I often think of those in prison, in solitary confinement or people who live in countries where freedom is severely restricted. Take a minute to take in and appreciate the tiniest of detail in your surroundings. Then celebrate your freedom by dancing, throwing your arms up, kissing a loved one. Why? Because you can.

    Appreciate the beauty all around you.


  • Positivity. The way you interpret life events will definitely influence your feelings because thoughts create emotion. As master of your thoughts, you can put a positive spin on whatever happens to you, which will improve how you feel on a regular basis. And, if you end up in a slump, remember that you will not ALWAYS be in that same exact frame of mind. Laughter, joy, and happiness are not far away because feelings are temporary and fleeting. The way you feel will inevitably change.


  • I’m a modern girl. I am so happy I live in modern times, and not in the Middle Ages. Life does not look so fun back then. Serfs under the feudal system worked long and hard, doing back-breaking work all day long.  Women spent their days spinning wool and making clothes (seriously, can you see me successfully making clothes on a spindle all day? They’d throw me to the pigs). Only  50% of the people lived until 35, which is the average life expectancy of the time. There was no electricity and families lived in one room huts where 1/3 of the space was fenced off for the animals. The hearth in the middle of the room gave off heat, but the air was always smoke-filled. You get the idea.

    Daily life in the Middle Ages


  • Cave Girl? No thanks! I’m also glad I was not born a cave girl. With my horrible vision, I would have been TOAST very early on. By the time I was in 2nd grade, my teacher figured out I was very nearsighted. Today, I am considered legally blind without correction. So when I play out my pre-historic times life, I get this scenario, “That pile of leaves looks fun! One, two, three-JUMP!” Then, in midair, I freeze, “Oh snap! The pile of leaves just made a growling noise that sounds just like a sabretooth cat. Good-bye cruel world.”

Sabertooth Cat

  • The internet is amazing! Information 24/7 at your fingertips. And Skype helps connect to people far away, in the US and way beyond. Today, it’s so much easier to research a topic from home instead of going to the library, using the Dewey Decimal system to find a book on a topic of interest.Now, video call a friend or a relative….just make sure you are wearing clothes to be seen in, at least from the waist up!


  • This photo makes me nostalgic, but I prefer the internet any day!
  • Changing your first name is totally legal. Seriously, there are some parents who did not think straight when naming their child. Here are a few very unfortunate names I’ve found while browsing the awesome internet:
  • Jack Goff
  • Dick Smalley
  • Ben Dover
  • Donald Duck
  • Phat Ho
  • Preserved Fish (Thanks, Shirley!)






And, there are many, many more horrible names out there. Many of these names are found on prison warrants for arrest.  Well, what did you think would happen when giving your kids such embarrassing monikers?

  • Evolution is Cool For example, giants do not exist. Bare with me on this one. I always wonder how many ants I’ve unknowingly killed. To an ant, I am a huge monster, with big, murderous feet. I am so thankful I am not a tiny ant, and even more grateful that giants exist only in folklore. Can you imagine if we had to be worried about being crushed by giants roaming the earth? That would totally suck.  And on that same note, I must confess that I am happy the dinosaurs are extinct. I just could not deal with knowing that at any time, I might come across an enormously fast lizard with little tiny hands reaching out to devour me for lunch.

    Giants are fake.
  • CMT Sucks!  (Joyce Steinkamp, thanks for the lollipop idea!)CMT stands for Charcot-Marie-Tooth disease-a progressive disease of he the peripheral nerves. Know if you have CMT, there is much more information, research, progress and awareness of this very common, but rare disease than ever before in history. And our researchers are working day and night to provide treatments to stop CMT. Bottom line – hope is real. But, believing without acting will not get us over the goal line.  So, if you really want to feel good about yourself, get involved in a charitable cause like the CMTA by volunteering, donating, publicizing, joining igive.com or amazonsmile.com (choose CMTA as your charity of choice). Be part of the solution – cmtausa.org

Jeana Sweeney, this image is for you. xoxo







Embracing Differences: Everyone Has Something!

Teaching Kids About CMT
Link to presentation:  https://www.youtube.com/watch?v=IdL3GHTlAgA

Yohan was diagnosed with CMT 1A at the age of 7. Neither my husband nor I have CMT, so Yohan’s CMT is the result of a de Novo mutation- the first person with CMT ever in our families. CMT just showed up one day on our doorstep as would a long forgotten relative, needing a place to crash. He crashed alright, and never left, but he’s DNA and we’ve accepted him and make the best of the situation…. most days.

Over the years, I’ve written articles and given presentations about our family’s journey with CMT.  Here’s one from 2006 which is still relevant today:

Embracing Differences

Why does Yohan have funny old man shoes? Why can’t he run fast and climb trees? And what’s up with all the sprained ankles? Why does he get rest breaks and we don’t? He’s probably just lazy. Right?

These are just some of the questions and comments we heard during the early years. Yohan’s classmates realized he had some physical differences, but from the outside, he looked more or less, just fine. Making matters worse, Yohan did not have the words to explain this somewhat complicated neuromuscular disease to other kids his age. We barely understood it ourselves.

After giving it some thought, and getting Yohan’s blessing, I decided to present CMT to the entire class in a very upbeat, interactive, and educational way. My goal was to have the students actually acquire some sense of what it might be like to have CMT. I wanted them to empathize with Yohan, understand him, and accept him—not feel sorry for him.

The day of the presentation arrived and Yohan was nervous. True to form, he had his hoodie on and sort of hid in the back of the classroom so he could pretend he did not know me and had never met me. In all honesty, Yohan liked the idea of this presentation because he was not being treated well by the other kids, but when the day arrived, so did a case of the nerves. How would his peers react? There was no way to know in advance.

Yohan is the one wearing a green hoodie! Found him!






At at the beginning, I spent several minutes explaining the meaning and origin of CMT, and then I involved the class in a discussion and some activities. We also talked about the peripheral nervous system and the differences between sensory and motor nerves.


CMT affects the nerves of the peripheral nervous system or all the nerves outside the brain and spinal cord.


Then I explained that kids with CMT may have problems with tasks requiring fine motor skills. To demonstrate how difficult it can be for someone like Yohan to perform everyday activities, I gave each student a button-down shirt and a pair of socks. I had them put a sock on each hand, and then I asked them to button their shirts up as fast as possible. I heard, “This is hard,” “I can’t do this,” and even, “I give up!” I also picked up on a couple of  “This sucks” and …well, you get the point. The good news is that this exercise led to a wonderfully animated discussion about how frustrating and challenging the simple tasks of writing, tying shoelaces, and buttoning shirts can be for people with CMT.

Next, I brought in a model of a 10-foot-long myelin sheath with nerves branching out at each end. I made this with a black hose, through which I threaded many different-colored wires. I showed how the myelin sheath protects the nerves and, in turn, helps them send impulses to and from the brain. Delicately avoiding negative terms like “damaged” or “abnormal,” I explained that the myelin sheath in people with CMT is “thinner” and thus less apt to protect and conduct as rapidly or as efficiently as the myelin sheath of someone who does not have a neuromuscular disease.

To illustrate how the loss of myelin affects nerves, I chose three volunteers and asked them to first run the length of the sheath four times and then hop the same distance. They all agreed that hopping was much harder and time-consuming. This activity ultimately gave them insight into why muscles in CMT get tired quickly and just how much more energy a person with CMT must expend to perform the same tasks as everyone else.

Finally, I divided the class into groups of four or five students. Each group (except my son’s group) was given a full bottle of glue. His group also received a glue bottle, but, they didn’t know it was filled with water. I declared that the first group to squeeze out all the glue from the bottle would be the winner. On “Go,” they all squeezed furiously, wanting to win the bags of candy I held out as the prize.

Of course, the group with water in their bottle won very quickly. Cries of unfairness and injustice rang loudly throughout the room, especially when I handed out the bags of candy to only five members of a class of 21. When one child blurted out, “Oh… I get it, in this exercise, we are the ones with CMT and even though we tried really hard to complete the task we could not. The non-CMT group won the prize.” The others reflected on what was just said and I saw light bulbs illuminating the entire room!

This exercise produced much empathy and insight, which in turn provided a deeper and more profound understanding of CMT. Finally, I reminded the class that everyone has some condition or obstacle to overcome, whether it’s wearing glasses or braces or hearing aids. I left them with the following thought: if we all tried to be open to the differences of others and learn to understand and accept them without judgment, this would be a much better, more tolerant world!

From that day on, the teasing stopped, and Yohan became just another kid at school. Yeah, he might wear braces on his legs, trip and fall a lot and feel too exhausted to run around, but the questions were answered and the mystery was solved. Education is a wonderful thing.

 To see the entire presentation, please click on the following link: https://www.youtube.com/watch?v=IdL3GHTlAgA
And please forgive my straggly appearance in the video. I thought I looked fine at the time….great even, but hair and clothing styles were different then. What was stylish then is definitely not cool today. And I hate watching myself in a video – dramatic much? Oh well. it is what it is. The message is the most important aspect of this whole activity. Enjoy.

One of the kids trying on an AFO