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

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.

Aha Moments

Last weekend, I planned to meet a friend at 7:45 on Sunday morning. I arrived a little early (growing up, I learned 10 minutes early was considered “on time,” but arriving “on time” meant you were just plain late). My friend pulled up on time (which means she was late – 😊). As her car slid into the empty parking spot, I could see her left hand holding her cell to her left ear, talking, laughing, and talking some more. Five minutes later, she opened the door, walked over to me while still chatting away, covered the speaker part of the phone, and whispered, “Hi!” “Hi,” I whispered back.

I did not tune into her mood or her joy. I felt irritable and impatient; I was stuck in my own reality, and I just wanted to walk, get moving, and get on with the day.

When she was finally ready to walk, yet another woman pulled her truck over to the side of the road to chit-chat with my outgoing friend. “Ugh,” I thought. “More time wasted talking.” My friend has non-stop energy and knows a zillion people, attracting people like bees to honey.

“OMG,” I thought. “We will be here all morning, probably until noon at this rate. I looked at my watch, but it was only 8:25. Why did it seem like I had waited for over an hour? We had plenty of time, but time was not the problem. I was just in a mood. It happens.

The best is yet to come: Impulsively, I made my way over to the truck and blurted out, “Shamika, you remind me of my mom. I love my mom, but whenever we were together, all the homeless people in the downtown area would claw their way to talk to her. She was the kindest soul ever, but we never got to where we were going. I’d end up leaving her with her friends and waiting at a nearby café!” (Wow, where did that come from?)

Joking with the woman in the truck, “And just to be clear, I am not insinuating you remind me of a homeless person….. HAHAHAHA.” I think she got the joke, but honestly, I was acting like a 5-year old child. That comment sort of ended the three-way conversation.

I’ve been working on emotional mastery, with Executive Life Coach Arda Ozdemir, using the POWER method (rise2realize.com) which has been transformational. But that particular day, everything seemed to fly out the window. That day, there was no Pause, Observe, Welcome, Earth, React.

There was only react. Well, back to the drawing board.

Once we were alone, my friend looked at me with disbelief, “What is with you today?” Nothing!! I assured her defensively. “Nothing at all.” And then the memories whooshed back into my consciousness, and the tears started to flow.

This was my Aha moment.

Thinking back to childhood, I remember my mom being uber busy, working long hours, talking on the phone and involved in a million trillion activities. Everything she did was to make a better life for her children.

My mom had to work full-time, as did my dad. With 3 children, a bunch of half brothers and sisters, cousins, aunts, uncles, and grandparents all living in close proximity, neither parent had time to spare. But a 5-year-old doesn’t care about all that. A 5-year-old wants what she wants and, in its absence, creates coping mechanisms to make sense of the world.

 When I heard my friend on the phone, taking her time, chatting with others, I went right back to my early memories and lashed out with repressed childhood feelings of loneliness and not feeling seen.

I had dreamed of having a mom who made me lunch, brought me to piano lessons, and waited anxiously as I walked in the door after school. A child understands neither the financial responsibility required to raise a family nor the expectations and responsibilities of adulting.

 A year ago, I would not have had the aptitude to look for meaning behind my behavior. I went along, day to day, believing I was born emotionless, one-dimensional, superficial, and lacking in depth. I was not in touch with my authentic self (I did not even know I had an authentic self). I’m only getting to know her now. It’s a delightful process, like a treasure hunt. 

Working with Rise 2 Realize Life Coach, Arda Ozdemir, I’ve learned to pause and observe those emotional reactions – ideally – before they happen, connecting with and processing those repressed fears/feelings before responding. I’ve grown so much, but Arda reminds me that this is only the beginning, meaning this work is a marathon, not a race, and I’m okay with that.

Now, back to my friend. I shared my reflections, and she was open to hearing my truth. I apologized for being impatient and explained why I acted so rudely. To her credit, she reflected upon her own life and raised her tendency toward phone conversations with friends/work while her family was around.

To my surprise, she too experienced an AHA moment. She wondered, “Do her friends/family resent her talking on the phone when spending time together?” It was the first time she’d considered how her actions affected her loved ones. At the end of our walk, she planned to check in with them to get their feedback. My shared moment of clarity got her thinking about her own life and habits. How beautiful is that?

Ideally, if you can remember to be more present and pause before reacting, impulsive actions and words can be minimized. But, pausing is the first step, and it takes practice to get out of reactionary fight-or-flight mode. On the app Insight Timer, Arda has a helpful self-observation meditation which has helped me be more present: https://insighttimer.com/ardaozdemir/guided-meditations/self-observation-meditation-2

Try it. It’s not easy to focus the mind, but with practice, you get better. And, the silver lining? It only takes 2-3 minutes. So, take a moment to pause and figure out why you are acting/reacting the way you do. A little bit of self-knowledge goes a very long way.

       Reaching For the Stars………and Beyond                                                                                                                         

Thank you all for your unwavering support of a cause so dear to my heart – CMT. Yohan was diagnosed 22 years ago with this progressive neuromuscular disease (the nerves deteriorate and in turn. the muscles atrophy). Where has the time gone?

As we turn the page, Yohan, at 29, is starting a new chapter in his life. Despite a year of setbacks due to COVID, he never gave up his quest to find a satisfying job and he succeeded!

Gilles introduced Yohan to cycling several years ago.  Having never biked as a child, Yohan did not know what it was to ride around the neighborhood with his friends. Now, he is experiencing freedom on 2 wheels – an exhilarating activity. His e-bike has changed his world.

As Yohan moves forward with his life, his CMT moves right along with him, damaging his nerves and making his muscles weaker and weaker. As a parent, it is extremely hard to watch your own child lose the ability to walk, open cans, and lack the energy to fully participate in life. Yet, Yohan never complains. He embraces his reality with humor and acceptance. Yohan truly is an amazing human.  

It takes 10 years and a billion dollars to bring a drug to market. 90% of drug candidates in clinical trials fail. These numbers may sound discouraging, but because the genetic cause of CMT has been identified, we have been able to make remarkable progress recently. When one of our sponsored projects shows promise, our pharma and biotech partners step in to provide the additional funds to take them to clinical trials.

This year, my family (Me, Uncle Chris, Yohan and Gilles) is once again organizing Cycle 4 CMT events around the country. The signature VT event is on August 28, 2022. The San Fran Bay Area ride is on September 17, as is the ride in Wisconsin. Many around the country are doing their “OWN” ride, cycling anywhere, anytime before September 30, 2022.

After 20 years dedicated to CMTA, my time at this wonderful organization is winding down, but I refuse to disappear into the night. I’ll never be too far, and my heart will always be with my friends and family who deal with this cruel disease every single day. Whatever the future holds, let’s make this 9th annual Cycle 4 CMT the most memorable in CMTA history!

Yohan and his friend, Vincent

Here is my ask: Please sponsor me on behalf of Yohan. My goal is the sky, but I’m really aiming for the stars. My dream? To raise as much money as possible to change Yohan’s life and the lives of many living with CMT. To date, there is no cure for CMT. I have a big problem with that. Let’s change the course of this disease, together. Please give generously:  www.cmtausa.org/elizabethcycle Checks accepted! Send to CMTA, PO BOX 105, Glenolden, PA, 19036. Please write Cycle 4 CMT n the memo line.

If you’d like to join an organized ride or do your “OWN” ride/walk to raise funds for CMTA research, please visit – www.cycle4cmt.com. Everyone is welcome!

Sincerely,

Elizabeth Ouellette

elizabetho@outlook.com

My Uncle Chris is Phenomenal

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.

Want to join us? Go to: www.cycle4cmt.com

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!!

Dr. Glenn Pfeffer Answers All Your Questions About CMT foot surgery

dR pFEFFER WITH BONSAI
Dr. Glenn Pfeffer: Orthopedic Surgeon at Cedars-Sinai

The CMTA hosted a very informative talk on Zoom in September, 2020 to the CMT community featuring well-known orthopedic surgeon, Dr. Glenn Pfeffer. I’ve transcribed this talk for you! Enjoy!

Elizabeth Ouellette: Welcome Dr. Glenn Pfeffer.  Dr. Pfeffer is the Director of the Foot and Ankle Surgical Program at Cedars-Sinai in Los Angeles.

I can’t tell you how much I appreciate and admire Dr. Pfeffer. He spends all his time with people with CMT. He wants to better their lives. He wants to see people walk.  He has devoted so much time and energy to the CMT community. I am just so honored to have him here as a doctor, my son’s surgeon, as a friend and as a colleague. So welcome, Dr. Pfeffer, and thank you for coming on. 

Dr. Pfeffer: Well, thanks for having me, and I’m surprised so many people came on a Saturday! 

Elizabeth: First, I’d like to get to know Dr. Pfeffer a little bit more. And when I was doing some research on him, I saw that he did magic.  I’m like, what surgeon does magic? 

Dr. Pfeffer: Actually, magic is important to me. I did this through high school, college and medical school. I actually performed in nightclubs.  I spent the summer in Nantucket at the Rose and Crown as their magician.  And whatever it is that attracted me and still attracts me to magic, is the exact same feeling I get two weeks after surgery when a CMT patient is sitting in the office.  Your foot’s going to be a little bloody.  You’re going to have some sutures to take out, and we open up the cast, and you’ll see some pictures of this, and I hold their foot and I say, “Take a look here, your foot.”  And it’s a new foot. It’s a foot they haven’t seen, perhaps ever, and the look on their face is identical to the look on people’s faces when you do a magic trick for them.

So whatever that is that attracts me is why I continue with magic. Magic is very simple you know. You can do things like this where you can take something and have it disappear. You can make it a little more complicated, which I do in the office for kids.  You just take the same little piece of foam or whatever, and you just put it into this hand and you can just show people that it’s empty.  So that’s sleight of hand, which of course is great for the magician. I still do this at orthopedic parties.  But not to belabor it, if I were going to do this I wanted this to have the same absolutely startling response that people have with CMT when they see their new foot. 

Elizabeth: Your father was a surgeon?

Dr. Pfeffer: He was a general surgeon.

Elizabeth: Oh and so is that what inspired you to be a surgeon?

Dr. Pfeffer: Yes, absolutely –  I don’t think I’d ever have even gone into medicine if not from my dad’s influence.  You know like all of us, I’m a mix of my dad’s DNA and my mom’s and they were very different people.  But dad really inspired me with his surgery, and he was hard-working and I think it was my destiny.  I probably have very little free choice in life.  He didn’t make me but in terms of who I was, it was sort of my destiny, like the Jedi.

Elizabeth: You horseback ride or you did in the past.  You scuba dive, you dance, you create bonsai, and I read somewhere you made a correlation between bonsai trees and surgery.  Could you tell us a little bit more about that? 

Dr. Pfeffer: I’ve always been interested in bonsai which are, you know, plants; they’re trees, and you keep them miniature by trimming their leaves, by trimming their roots, and you keep them in small pots.  Everyone knows what they are, and what you do to shape them is you wire the branches and you hold them down so they look like a tree.  And I realized only a year ago that what I’m doing with bonsai is identical to what I’m doing with CMT feet. I was sitting there in surgery and we were wiring a foot down and putting screw into it, and somebody who knew about bonsai said, “You know, Glenn, that’s exactly what you’re doing with bonsai.”  And it was startling to me. You would think it would be obvious but it wasn’t.

As you may know I’ve got my own foot problem.

Elizabeth: I was just about to ask you; when you told me you had foot issues, I’m like, “He gets it.He knows what it is like to have a foot problem, and I think that’s a bonus for your patients.”

Dr. Pfeffer: Well I was just going to say, though, that’s how I got into horseback riding.  Because I’m athletic by nature, but I couldn’t run.  You know, I didn’t know what I had. It’s very poignant for me, the CMT world, because patient after patient, everyone who’s listening knows this, everyone, unless you had a mother or father who had CMT, you grew up not quite knowing what was wrong with you, right? And I didn’t either.  I didn’t know I had a problem with my foot for 40 years. It sounds dumb, right?  But if someone’s out there with CMT and no one told them they had CMT for 40 years, and they just thought they walked funny and they couldn’t keep up, and they were a little unbalanced, nobody would know. So I took up horseback riding because I could do what I wanted to do. I could fly through the air and jump, and I’m sure all the people listening have modified their lives in way so that they can function with their CMT.

Elizabeth: I think you can really relate to people with CMT and understand foot issues and the inability to do certain things. 

Dr. Pfeffer: Well there’s no question, you know I don’t like to talk about it too much because you don’t want to get a little corny on a Zoom chat with all these people, but yes, I 100 percent relate to what people are going through. I’m not in a wheelchair.  I don’t have problems breathing. My hands are strong.  But for the isolation that somebody feels, the difference that somebody feels growing up with CMT, that is exactly what I felt for sure, and I don’t know that you can teach somebody that.  I’m not sure you can really learn it, but it’s just in my soul.  I’m not as bad off as most of the people with CMT at all but that’s why I get it, you know, that’s why I think it’s probably why I was attracted to all this. 

Elizabeth: So why don’t we start your presentation, I think you are a fascinating person, and I know you’re an expert surgeon and the best of the best.  And you’re also a great presenter, so I’m sure people want to hear what you do every single day.

Dr. Pfeffer: I want to just show you my world of CMT, and I have a certain kind of person that comes to me, right?  Somebody who was unfortunately paralyzed in a wheelchair would not be getting to my office, so I do understand that I’m seeing a segment of the CMT population.  But this is my world and what I go through every single day. At this point I’m confident that we at Cedars are operating on more CMT patients than anywhere else in the United States and we have a plethora of experience with it. 

We’re lucky enough to have a large CMT program at Cedars with some of the most famous CMT neurologists on the face of the planet, such as Rich Lewis and Bob Baloh, and with amazing geneticists. If you have an issue, you can come to see the program. You’ll see a lot of people. Instagram is as alien to me as, you know, speaking Russian or French and yet it’s been a tremendous success for me and the people who follow it. I mean, my gosh, I didn’t even understand that at one point I had two people following it. Now we have close to 1400 people across the world, and I communicate with them all. It’s sad when someone from Ethiopia says “How can I come and have surgery?”, and of course the chance of them having surgery is almost zero for financial and travel reasons.

I encourage you to follow me on Instagram: #CharcotMarieToothSurgery

The foot has 20 muscles.

The foot’s complicated, right?  It’s got a lot of muscles in it.  There are 20 muscles in the foot, more than there is in the entire leg. 

The tibialis anterior lifts the foot.

The tibialis anterior muscle is the strongest dorsiflexor (muscle lifting foot up toward the shin) and helps to lift the foot from the ground. The Tibialis Anterior Muscle also facilitates flexion of the foot upwards and extension of the toes. The Tibialis Anterior Muscle originates from the outer surface of the tibia and inserts into the first metatarsal bone in the foot which is located behind the big toe. 

Extensor digitorum longus muscle - Wikipedia
Toe extensors

Above are the toe extensors. These are what lift up your toes, and interestingly with CMT, if the tibialis anterior that lifts your ankle gets weak, these toe extensors will start working harder, which is why so many of you will have a toe deformity. As the Tibialis Anterior muscle gradually weakens and the foot drops down, a contracture of the Achilles will occur because the tendon is no longer being stretched out during gait. The worse the contracture, the harder it is for the weakened Tibialis Anterior to lift (dorsiflex) the ankle. 

Achilles Tendinitis For Runners
The Achilles tendon tightens with CMT
Peroneus brevis - Wikipedia
Peroneus Brevis

Above is an image of the Peroneus Brevis, one of the key muscles that weakens in CMT.  Why it happens exactly is still unknown, but this muscle, when it weakens, destabilizes the ankle and the foot starts to turn in, because this muscle is weak.  And the other reason the foot starts to turn in so commonly is because this muscle in the right foot, looking from behind, stays strong.

So one weak muscle, and one strong muscle causes the foot to start to deform.

So let’s talk about that what causes the CMT deformity. I’m talking about this common cavovarus  (very high-arch) foot.  This is what happens every millisecond in our body. Muscles are pulling back and forth but keeping us balanced, right? With CMT, because of the paralysis that’s uneven, involving some muscles but no other muscles, they become weak.  There is CMT. Some muscles are powerfully strong, and others are weak and that causes a deformity.  It’s called a cavovarus, and you can really see it on this right foot. 

cavovarus foot

If you took your hand, put it in your pocket and left it there for a year. Not only will you not be able to move it, you’ll probably never be able to open it up again because all of the soft tissue contracts. And that’s what you don’t want to have happen.  If there’s one message I can give you, don’t let that happen. 

The minority of patients I think benefit from surgery with CMT: Most patients do not need surgery.

The person below is wearing ground reaction force braces. This type of brace, made from carbon fiber or plastic actually bends and stores energy.

So when you have no function in the leg and the Achilles tendon isn’t working, these braces are just terrific.  This person could walk a hundred miles if they had to because their foot’s flat on the ground and they’re doing great. Now, here are all the types of braces there are. Some are off the shelf.  Some are custom made. Which is better than the other?  I don’t know.

 I absolutely think chocolate ice cream is the best. Does anyone disagree?  Some people like strawberry or maybe vanilla, and the problem with the braces is you can’t try them all on unless you go to a spectacular brace shop, which I’m lucky enough to work with at our Center of
Excellence.  Would anybody say that a size six dress of a certain brand is perfect for you?  Of course not. You’d want to at least get it in the mail, try it on and send it back.  That’s what you have to be able to do with braces. Unfortunately, we can’t try all these braces and some of them cost thousands of dollars, so try to go to a brace shop that has a wide selection to let you try some of them off the shelf.

Now that is not the right brace for a for this crooked foot.  Some of you have it. I see this situation every day of the week.  Would anyone put a foot like this into a brace?  It’s like putting a square peg into a round hole.  This is from Friday.

This brace does not work for a crooked foot.

 I was a little delayed today getting my talk all set because this gal just came in. She lives on a ranch.  That’s the shape of her foot. That’s the shape of her brace.  Shame on everyone taking care of her.  Shame on her brace maker. She has pain walking on the side of her foot in a brace that looks like it’s something to a caged up an animal.  That foot should never be allowed to walk the face of the Earth.  That can be made flat, and even if this woman can’t get out of her brace, she can get into a brace with her foot balanced and her body weight plumb lined with no pressure walking on the side of the foot.

I can’t see you all, but how many of you have had or have a callus on the side of your foot?  Right. That’s what happens. So these people should all have surgery, that’s how I feel. Now some people don’t want to wear a brace. 

This is Katie’s Story

“Hi, my name is Katie. I live in Florida and I have CMT. Katie didn’t want to wear a brace. It was in sixth grade when I first started getting made fun of for the way that I walked and noticed that running and keeping up with my friends was becoming more difficult for me, and my parents started taking me to some doctors to try to find out what I could do to help me with my CMT.  With each doctor that I met with, I felt like they didn’t understand my specific case of CMT.  And they gave me some options, like braces and orthotics, and some of them would help me temporarily but nothing ever really helped me. So when I was in high school, I started falling almost regularly, and I missed out on my homecoming and my prom and just gave up on trying to find shoes that fit and started to become really discouraged.”

So Katie was a young woman, and she didn’t want to wear braces. She could have actually been in a brace.  So she came from Florida. She said, “I don’t want to wear braces the rest of my life.”  So I said okay and she had some muscles that were working.  We operated on one foot, and she was incredibly brave and so we operated on the other. Katie could hardly walk without a brace without holding onto a wall.

Many of you know that kind of person.  So the CMT type foot deformity is a tricky surgery. That’s the problem, right?  People have had a lot of issues with it.  There’s so many components to CMT surgery.  The surgeries will take at least three to four and a half hours. There’s no way to get through it quickly.  Basically, the failure of CMT surgery is when we don’t do enough.

So this is what we put on the operative board at Cedars-Sinai.  We put all the procedures someone’s going to have. “Hi, we’re going to fuse a part of your toe joint,” you’d say to a patient, “Okay, let’s schedule you for surgery.  Hi, we’re going to do a tendon transfer on you. Okay let’s schedule you for surgery.” But the tendon transfers are some of the most complicated and extensive surgeries that there is in all of orthopedics except for some spine surgery or hip surgeries with dislocations and acetabular malformations.

Many surgeries in one – CMT foot surgery

Now how do we know what to do? Well, the problem is there is no good consensus on what to do. At least there hasn’t been, but we’ve done a lot of studies on this at Cedars and much thanks to the CMTA for their help.

This was a study we did. It was published in 2018. It was sponsored by the Charcot- Marie-Tooth Association (CMTA) and this was really incredible for us because we won a prize for this operation telling us how to correct the heel varus.  And we won a prize for this as one of three research studies of the year most likely to change orthopedics. I just happened to have it here.

We took a print of one of my patient’s foot – Sarah. And we printed out 18 “Sarah’s”, 18 of these and then we studied them with different operations in the lab, but very exactly, and we showed which was actually the best operations for correcting heel deformities in CMT patients with her type of problem.  Since then we’ve done other research more on heal osteotomies.  We’ve looked at extensor transfers  The most difficult, competitive organization in the world and the most academic is the orthopedic research society.  And Max, who’s going to be joining us, he’s the second author, won a prize here just this past spring for a young investigator’s prize. I mean this is like winning a Nobel Prize in orthopedics and I was actually stunned by it.  But part of the reason is because the whole area of CMT surgery is so poorly investigated, it’s not that hard to do some landmark work if you do the research. 

Now there’s a big hole on how you should do CMT surgery and how it ends up in people and how do people do it. We’re just starting now.  Some of you I’ve operated on. I always say I’m a pretty accessible guy and I don’t hear about too many people doing poorly. I know the ones I’ve had to re-operate on.  I just spoke to a woman this morning where a young girl in New York is not having the motor strength that she needs. So I think I have a sense of it, but we’re going to study it and hopefully publish that by the end of the year. 

So this was a remarkable thing – years in the planning. There were seven past presidents of the American Orthopedic Foot National Society and some of the most famous foot and ankle surgeons on the face of the planet, and with the sponsor of the CMTA sponsorship and Elizabeth’s fire in her belly. we brought these people together.  And it almost killed me, literally, but we finally published a paper on our results, which just came out, and this is a consensus. We didn’t get everyone to agree, but I think just to sum it up here, this is accessible. You can get it through the CMTA and other places and if you’re going to have surgery locally in your area if you can’t come to Los Angeles for some reason, give this to your surgeon and say, listen I’m sure you know all about this but would you mind taking a look at this paper. And if they haven’t seen it they’ll be grateful to have it.  https://www.cmtausa.org/news/breakthrough-guide-to-orthopedic-surgery-for-cmt/

Chicago Think Tank

Consensus Paper – Can be found on CMTA website: https://www.cmtausa.org/news/breakthrough-guide-to-orthopedic-surgery-for-cmt/

  The goal of surgery is to give you a flat foot, and to balance your foot.  My goal is to keep you out of a brace if I can, and I usually can if I’m willing to operate on you.  It doesn’t always work that way, and if we can’t get you out of a brace, at least we’ll get you into a smaller brace.  Much better to wear just a small piece of plastic than some of these bigger, bulky braces.  So what do we do? We transfer tendons, which is moving muscle.  We move strong muscles that are deforming the foot to weaker muscles which are letting the foot become deformed.  We cut through the bone. Here you can see a bone. This is a right heel we’re looking at.

 We take a wedge out of the bone. We twist the heel around.  Here you can see it. So this is the heel from behind on the right side. You can see what we do. We take a wedge out and then we just simply shift the heel.

Okay, now who can you trust to do surgery?  I hear there’s a lot of talk about me in chat rooms and stuff. I said, is there anything I ask my patients they don’t like.  One person said, well you kept them waiting a lot, and another person apparently said, well, I just didn’t like him, but I guess he’s a good surgeon.  But look out there. I don’t hear anybody saying about me, anyway, oh he sold me a bill of goods. He said I’d be good but I’m not. I just do not hear it.  And if you do, tell Elizabeth and she’ll tell me because I want to hear about the failures I’ve had.  I know the failures. I know why they’ve occurred but most of them have just been in the hands of God.  Find someone who does at least one CMT surgery a month.

Find someone you trust


That’s a fair number of CMT surgeries to do. Most very experienced, busy surgeons will be doing three CMT surgeries, maybe two a year. But if you can find people around the country. that’s a good thing. 

When should you do your surgery?  Do it as soon as you know that you or your child can’t live with their foot the rest of your life.  The sooner the better. Dr. K, my partner, because I don’t operate on people really under the age of nine, he just operated on a four-year-old yesterday from Utah, both feet. All these people are the perfect age for me to be doing surgery.  You know, 10, 11, 15, 16, but you can do it anytime. It just gets harder because things get stiffer the older you are. So every day, because of Instagram, I chat with people.  Some people are from Eastern Europe. Some people are from United States, and I have met most of them.  I guarantee you I will make you better. I don’t know how much better.  I’m not 100% sure I’ll keep you out of a brace, but I tell people you’re about a C-. I’ll at least get him to a B +. All right. So all I need is one strong muscle.

All I need is that muscle to move.  That’s it.  I just need any muscle. Is there risk? Of course. 

CMT Foot

The biggest reason surgery fails are that not enough was done. To do 18 surgeries at one time is a lot.  T

 

Sarah was one of the most amazing. You may have seen her. She was 16.  She couldn’t walk. We operated on one foot.  All she said she wanted to do was walk down the high school aisle without having to hold on to her father.  I called her years later.  I said, “How are you doing? What’s going on with you?”  And she said, Dr. Pfeffer, you don’t understand.” She said, “I just walked 10 kilometers around London with my boyfriend in cute shoes.”  So that’s a magic trick all right.  This gal, she said, “I don’t want to wear braces. I’ve had surgery.  I’m going to be the first woman President of the United States.  I’m going off to college.”

There she is.  I mean, I can’t do that.  Could she? She texted me a while ago. She goes, “After five or six hours of walking around campus, I need a little co-op brace. You know, ones that go into your laces because I get tired at the end of the day and sometimes need a little bit of help.” That’s better than I ever thought. 

Q & A

I’m wondering how you deal with toes.  Yeah it’s a great question.   Very succinctly, toes  are among the most difficult, actually, of  surgery to do  and the the longer people wait, the worse off they are. I can  still  fix the rest of the foot, but the toes  become more and more problematic  and  there’s no easy answer for that.  Sometimes as simple as just  transferring the tendons. Sometimes we just cut the  flexor tendons but I don’t like to do  that in someone who has a motor disease.  And what I’ve been doing lately with  severe problems is we actually have been  fusing these joints. It’s okay because  the joints are useless. It’s not doing  anything for anyone except getting in  the way.  So we fuse the joints and leave the  tendons alone  and and we can have some beautiful  results with that. The problem is  it’s a lot of surgery. That, in and of  itself, that operation could take an hour,  hour and a half. To add that onto a four  hour operation …  someone like the boy I’m operating on on  Monday who has all that  may have to come back, he may for the  toe operation.

I had foot surgery, now my knee and hips  are not aligned with my feet and I am having gait problems as well as some knee and hip issues. I’m wondering  if that is because she waited too long and  the CMT foot made her walk differently  or do you do gait analysis beforehand?  Have you heard of these problems?    Someone has foot surgery. They get  deconditioned and the hip muscles which  are vulnerable to begin with, and the  knee muscles  get weaker, right? So they just get  deconditioned. I know of one person in my  career from Santa Barbara,  and she had foot surgery. She was, you  know, recovering  and then she had that problem. You know,  and all of a sudden her hips started to  have a problem.  It’s really really rare if the foot’s  have been bad … feet have been balanced  properly. My first thought is that the  surgery didn’t work on the feet and that  they’re imbalanced.  The key is to remain conditioned, even if confined to a bed. Get some five pound  weights on your ankle and lift up the leg.

Do you ever do both feet  at the same time? 

Never. You could do double surgery, like in a four-year-old like yesterday where Dr. K  did that.  Where you can just carry them around  easily, but no,  an adult is going to be completely  impaired because they can’t put any  weight on their foot for six weeks.  Yeah. They would have to be tiny.  Carry them around to the toilet. Carry  them to the chair.  What weight would that be? I don’t  even know. You know, 50 pounds  if dad’s strong.

Is there a particular age you recommend surgery?

There’s not a specific age, but how do you  know  to bring your child to trust you with  his feet or her feet?  When do you do it? Well, it’s absolutely  the  most important question anybody can ask,  and I don’t have an answer. To operate on the crooked foot at any  age,  operate certainly on the young  adolescent at 12 or 13,  as soon as you know that person’s not  going to live with that foot ideally for  the rest of their life.  If you look at your child, your friend,  and you say  I don’t want them to have that foot the  rest of their life, that’s the time to  have surgery. 

Since CMT is a progressive disease  do you do surgery and then 20 years  later you have to do it again  because the foot deforms or what is your  experience with that? 

There’s no literature on that whatsoever.  The study that we  started in 2017  will be coming to fruition soon. I said   I told you, anyone I’ve operated out  there  please answer us when we write to you,  and we’ll follow these patients along  forever, and the only way  anyone will have an answer for that is  in 2037 when those patients are still  around.  Most … many of them … many of them were  young and we’re going to find out how  they’re doing  but I can tell you this. If anyone’s  considering surgery  and they’re not doing well, don’t delay  because someone says, tells you, you’re  just going to be paralyzed in 10 years  anyway.  That’s not my experience. I’ve been  operating for 30 years  in California and no one has ever come  back to me and said  the operation hasn’t worked because I’ve  gotten weaker,  ever. And I’m around, you know, so I’ve  never had that. So I don’t  think these things progress. and I    personally think that when you do this  on a young person …  this is really critical … what do you  think happens? And we’re doing a study on  this.

Is it true you should not operate on children  until their bones are finished  developing? Is that sort of an  old school philosophy?

No, it’s an old  school philosophy. Just  throw it out the window.

How can you find a foot and ankle surgeon,  one who really knows what they’re doing on  the CMT foot, 

  I want people to come here if they  can.  I’m  amazed but I admire that  COVID is not stopping anyone. Tomorrow  there’s a girl from Texas  and she’s driven up. There’s a boy next  week from New York, and he’s flying in,  you know.  So it doesn’t seem to stop anybody much  for the CMT and they think it’s a  good time, right, because schools are  virtual. So all of a sudden  someone’s saying, well, this is not worth  it to be freshman in college for seventy  thousand dollars a year. I’m gonna get my  feet taken care of.  People come, I want them to stay.  A lot of surgeons wouldn’t want that,  but I want the person to stay here for  two weeks.

Now it’s a big  city and a lot of people have relatives  and I would say what I tell everyone. You  can get a hotel  out of town for $59 somewhere  a week and you can get a hotel in town  for $5,900  a night, and I’ve had both types of  patients.  Normally the former than the latter  but you stay and then the sutures will  come out in two weeks and then you go  home.  Insurance will … we’ve never been denied  insurance because most …   if you’re in North Dakota …  in your town the insurance knows that  there’s nobody who’s going to  want to do this, and if they do want to  do it, the patient will say doctor how  many have you done?  Have uoi done hundreds of patients, the way  they have at Cedars? It’s too difficult  a surgery to take on you know  so the the surgeons don’t want it. Even  the HMOs will allow people that …  one of those people I showed you is  from an HMO, which is very restrictive  healthcare, right,  in Hawaii but the HMO doctor  doesn’t want to do it.  Medicaid and the medical patients aren’t  allowed to come  but almost all insurances will allow  this.

I’m an employee. I don’t get a penny  from doing the surgery,  just not a penny. I’m an employee of  Cedars and Cedars is part of almost  all plans.  And the last thing I would just say is  if somebody doesn’t allow you to come at  first,  they will because all you have to do is  say this is where I want to go.  Are you willing to take the  responsibility,  doctor, insurance plan, but I’m not going  to do well.  And the answer for that 99% of the time  would be,  why don’t you go to Los Angeles? Now there  are  certainly people who do what I do in the  United States, but they’re large areas  where they’re not.  Okay, that’s a really helpful answer.  Great to know.  I just said the cash price is just  insurmountable. I just …  it’s tens and tens of thousands of  dollars. So you really need to  to go through insurance and get that. 

So in that regard  we’ve never had anyone turned down. Sal  Rosette, my surgery scheduler …  I was working late night in the office,  he was leaving late and I asked Sal  about this.  And he said to me is exactly what he said. I don’t know if it’s true or not.  He said, Doc, he goes, we have no one ever  turned down by  insurance for you. Each doctor has  something called an NPI number that  designates them.  He said he’s at the insurance company  I’m talking to them on the phone  and they say well what’s his NPI number  and it’s CMT  and the insurance just  immediately says, oh yeah, you can go  there.  I don’t know if … I don’t know if he’s  just reading into that  or not. I said, so they’re tracking us  with CMT and my doctor number? He goes. ” they must.”  Blue Cross, he said … I don’t know if it’s  true … but according to him he said Blue  Cross knows about you  and CMT. Anyway that’s a long answer.  That’s okay, very helpful. Back  to the age a little bit, and I know you  spoke to the crooked foot  being, you know, of surgical  possibility at any age. 

What are your thoughts on ankle fusion?

There was a consortium  in Europe which you know about. Dr.  Shy was there and others  looking at this, the  surgical issue,  and we met and I was amazed that one of  the surgeons there does a lot of CMT  surgery said  we do fusions in everyone. We do tendon  transfers and fusions. 

So I was born with a  fusion  You can do okay with the fusion of the  joints that are usually involved with  CMT,  but you’re not perfect. And I had …  if my foot moved perfectly, I would not  have dislocated my ankle when I fell in  the pool recently.  You  don’t want to do a fusion in a young  person.  If you have to, it’s not the end of the  world.  Let me tell you, if anyone’s telling you  who has CMT  that you need an ankle a fusion, you need  another opinion  from out of town.

But never  fuse an ankle in a CMT patient  as a general rule. Why? Because you’ll do  much better with those braces.  When you fuse the ankle, you take all the  spring out of the ankle  and you negate the ability of using  those wonderful braces, those ground  reaction force braces that are made now,  and those braces are anything from over  the counter or  basically online to  ten twelve thousand dollars a pair, so  there’s a lot of options.  But you have options unless you get your  ankle fused. 

Who should do my surgery?

  There are orthopedic foot and ankle  specialists. That’s who you want to see.  An orthopedic  MD foot and ankle specialist … M-D,  someone who went to medical school.  You know,  that’s the first thing. Not a podiatrist. If there’s a podiatrist  out there who’s done 100 CMT surgeries,  then fine,  I have no problem with that. You know,  podiatrists are not medical doctors.  There’s some natural competition  between orthopedic surgeons and  podiatrists.

I’ve operated on always over 40 000  people with CMT. Wow. In this one you need somebody with gray  hair. I am  so much better at this than I was 15  years ago.  Go see somebody. Contact me if you want.  Set up a telemedicine visit,  and I’ll tell you whether I agree with  your opinion or not.

And I know everybody,  and I’ll secretly tell you if I think it’s a  good person to go with.

The Consensus Paper – Take that paper, put it in your pocket  bring it to your surgeon …  learn it. CMT patients are pretty smart  people.  And learn what’s in that paper. Ask a few  questions and see what the answers are.  What we wrote in that consensus patient  paper will change  and it’s not the final answer, but it’s a  very good start to knowing who the right  surgeon is for you, right?

Elizabeth: I can’t thank you for being so  passionate about our cause,  and you’re very approachable, and even  in  the world of orthopedic surgeons. And  it’s you guys are very very busy,  and very task oriented, but you care. You  have heart.  You have soul. You follow up with your  patients.  I mean, the quality of care that you give  is amazing. So not only are you a very  competent surgeon, but also you’re  somebody that’s approachable and you can  talk to and you’re interesting.  And so A+. Thank you so much.  Thank you so much for this wonderful  presentation and caring about our community. 

Give More Out Of Life!

This image has an empty alt attribute; its file name is yohan.png

Over the past 20 years, I’ve gotten to know many people from all all over the world who are interlinked by one common denominator – CMT or Charcot-Marie-Tooth Disease. Despite cultural, social and economic differences, they share a common story, one which includes nerve degeneration, weakened leg/arm muscles, drop foot, claw toes, hand contractures, tremor, leg braces, foot surgeries, chronic pain and disability, just to name a few.

Some experience life-altering fatigue, easily broken bones, lack of proprioception due to loss of feeling, while others no longer have control of their hands or fingers and gasp for breath due to diaphramatic weakness. Some have even died due to complications from CMT.

Last week, I was speaking to a longtime friend, whose now 55-year-old son is bed-bound, unable to move, practically paralyzed from head to toe. His CMT, type unknown, has progressed rapidly, leaving this fiercely independent man completely reliant on the help of others.

His mom has  been an extremely generous CMTA supporter for the past 30 years, and a supporter of the Cycle (and Walk!) 4 CMT event. When I heard just how much her son’s CMT had advanced, I felt angry. “I’m so done with CMT and its ravaging effects on my friends…SO OVER IT! I hate this stupid disease. It’s not only maddening, it’s depressing.”

 I felt as though I had failed this family……and my own.

If only I could have done more to help her son….and so many others.  I told her as much: “I wish I could have done more for him, for your family. It’s heartbreaking to think of him today, lying in that bed, unable to move. It’s disheartening to think of all my friends whose nerves are slowly degenerating as we speak. ” 

Action empowers. Inaction disempowers.

If there is one action I can take, it’s to continue to support CMT treatment-driven research by fundraising, donating and ask others to do the same. 

I  pulled out a graphic the CMTA recently published, showing  our current projects under STAR (Strategy to Accelerate Research). You can find this chart on the CMTA website: https://www.cmtausa.org/living-with-cmt/find-resources/cmta-reports/download-info/the-2019-cmta-annual-report/

Take a look:

 

CMTA Drug Pipeline

This chart shows the depth and breadth of CMTA research projects.   11 years ago, this was a blank page. Now we have 50 projects and over 30 partners, all funded 100% by individuals who believe in the power of our scientific endeavors. 

Charity Navigator, America’s largest & most-utilized charity evaluator, also awarded the CMTA its highest rating last year (4-star), which fewer than 1% of charities receive. Now, that gives every one of us bragging rights!

My friend reminded me, “The CMTA is doing miraculous life-changing work and if it does not help my son, I know it will help others. Together, with our CMT supporters, we will make an indelible mark in this world. We already have!”

She’s right. With her words spurring me on, and with renewed energy, I decided to transform my anger into passion and drive. 

So, yes, I’m asking again this year for your help because I want my son to have the best life possible. I want my friends to remain healthy and able-bodied. I  want our future generations to be free of CMT.

So, instead of cancelling the Cycle (and Walk!) 4 CMT, we’ve decided to host a VIRTUAL event. Anybody, anywhere can participate. www.cycle4cmt.com

If you don’t want to get your walking shoes on or your bike out, you can sponsor a participant or a team…….like Team Yohan! Will you sponsor Team Yohan and help us advance CMTA research? If so, click here: https://cmta.akaraisin.com/ui/cycle/team/300635

And for the first time ever, Yohan is actually biking, thanks to a lot of practice, commitment to our cause and his e-bike! The plan? They are  doing a classic ride across the Golden Gate Bridge and around the Marin Headlands on Saturday, August 29. Meanwhile, I’ll be in Crissy fields wearing a Shark Costume (Shark-O-Marie-Tooth) spreading CMT awareness and scaring little kids (kidding).

Charcot-Marie-Tooth – pronounced Shark-O-Marie-Tooth

 

We also have a $50k match running in August, so your contributions will be doubled!!

 

That’s a lot of good news in one post!! Join us. Go virtual. Donate and leave a legacy of CURING CMT!

Don’t forget…….Keep on trying; we will not fail! 

 

HNPP – The Latest

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

CMT Researcher Dr, Jun Li is the leading expert in HNPP
Jun Li, MD, PhD
Professor and Chairman of Neurology
Wayne State University School of Medicine
Detroit Michigan

Nerve tissues that reside in the skull and spinal canal make up the Central Nervous System (CNS). The CNS extends numerous nerve fibers out of the space of the skull and spinal canal that make contact with muscles, skin, tendons, the gut, and other organs. These nerve fibers outside of the CNS space are collectively called Peripheral Nerves. When the peripheral nerves are damaged by a cause, it is called peripheral neuropathy. If the cause is a genetic mutation in a specific gene, it is called Charcot-Marie-Tooth disease (CMT). There have been over 100 genes identified where a variety of mutations lead to different types of CMT. Hereditary neuropathy with liability to pressure palsies (HNPP) is one type of CMT.

CNS vs PNS

HNPP is caused by missing a DNA segment on chromosome 17. The segment is called c17p12, which contains the Peripheral Myelin Protein-22 (PMP22) gene, as well as others. Scientific evidence supports that loss of one of the two copies of the PMP22 gene (one from mother and one from father) is responsible for HNPP. Genetically, it is called “heterozygous deletion of PMP22”. The remaining genes in the c17p12 segment play a negligible role in the disease. Therefore, HNPP has a 50% chance of being passed to offspring. A small fraction of patients with HNPP may develop this mutation on their own, which is called de nova mutation, and thus would not have any family history of the disease.

Clinical Manifestation: While exceptions do occur, the majority of patients with HNPP develop initial symptoms around the first or second decade of their life. Patients typically present with focal numbness, tingling (pins/needles) and muscular weakness in limbs.  These episodes are often brought on by mild physical activities that do not cause symptoms in healthy people. The activities include compression, by sitting with legs crossed, putting pressure on the peroneal nerve, or leaning on elbows against the ulnar nerve, repetitively doing the same movements (stereotypic movements) for a prolonged period, and over-stretching of the arms or legs. It can take anywhere from hours to months to recover from an episode. While most episodes are transient, some patients with HNPP may experience permanent weakness. Some episodes may not have any identifiable triggers.

Peripheral nerves that go to muscles and sensory organs in the head are called cranial nerves and can also be afflicted by HNPP. For instance, partial hearing loss and facial numbness have been reported by patients with HNPP. Many patients with HNPP may also develop generalized symptoms, such as intolerable fatigue and pain. There is a wide range in the severity of these symptoms. Life expectancy for people with HNPP is usually not affected by the disease. 

Some patients may be asymptomatic. HNPP may lead to severe limb paralysis when asymptomatic patients are challenged by strenuous physical activities such as running 10 miles a day with a 50lb backpack. An asymptomatic woman developed leg paralysis after prolonged labor of 9 hours to deliver a baby while sitting in birthing position. These possible outcomes could impose a catastrophic risk in the fraction of patients with undiagnosed asymptomatic HNPP.

Upon physical examination, physicians may find sensation loss and muscle weakness in the hands and feet. Unlike other types of CMT, high arching feet or hammer toes are not common in patients with HNPP.

Diagnosis: The diagnosis of HNPP can be quite challenging. This is often due to many physicians’ unfamiliarity with the disease. An HNPP patient may be misdiagnosed with a lacunar stroke, multiple sclerosis, spinal muscular atrophy, chronic inflammatory demyelinating polyneuropathy (CIDP) or idiopathic axonal polyneuropathy, etc. Therefore, a high index of suspicion is often needed to reach the diagnosis in patients with episodes of focal sensory loss or weakness.

Electromyogram/Nerve Conduction Study (EMG/NCS) is an important diagnostic tool for HNPP. It shows changes in areas where peripheral nerves are exposed to mechanical pressure, such as the ulnar nerve at the elbow or median nerve at the wrist. This finding should prompt physicians to seek the diagnosis and perform DNA testing.

DNA testing allows physicians to reach a definitive diagnosis if the loss of one copy of PMP22 is found. There are several issues relating to testing that should be emphasized here: a). Unlike the majority of lab tests, which use blood samples from a red-top tube, blood samples for DNA testing should be collected in a purple-top tube that contains a chemical to prevent the blood from clotting. This is necessary for DNA extraction. If a red-top tube is mistakenly used, clotted samples will be rejected by the lab. The patient may have to return to the clinic for another blood draw. b). The HNPP mutation is usually tested using a technique called multiplex PCR. In rare cases, this technique may not detect the mutation. If the clinical suspicion is strong, alternative techniques would have to be used to clarify the diagnosis. c). There have been a few reported cases that were not caused by a missing copy of PMP22. Instead, their HNPP was caused by an altered DNA sequence in the PMP22 gene that multiplex PCR cannot detect, but DNA sequencing can.

Clinical Management: There is no cure for HNPP at this point. Therefore, clinical management mainly aims to alleviate symptoms and optimize quality of life.

1. Avoid physical triggers: We advise that HNPP patients avoid the physical activities (compression, prolonged stereotypic movements and over-stretch) that may bring on symptoms. However, we do not advocate for a sedentary lifestyle either since this may lead to obesity and metabolic problems. Thus, activities should be tailored for individuals to have adequate exercise without triggering nerve symptoms.

2. Pain control: Many patients with HNPP complain of pain, regardless if focal symptoms are present or not. Those with true neuropathic pain (sharp, burning, tingling, highly sensitive to touch) tend to be responsive to treatments. Others may not show features of neuropathic pain, and the pain may be difficult to control. Physicians may have to carefully seek additional factors contributing to the pain, such as inadequate ankle braces causing overuse of leg muscles, etc.

3. Medication side-effect: Severe side-effects have been reported in patients with CMT1A who took Vincristine and developed limb paralysis. This is a difficult subject to study in patients with HNPP due to ethical issues. However, an HNPP animal model shows slower recovery from nerve damage. We believe that patients with HNPP should be carefully monitored for side-effects when they receive any new medications.

4. Diet: Many patients with HNPP question if they should avoid any foods. We are not aware of any specific dietary restrictions for HNPP patients. A high dose of vitamin C has been shown to reduce PMP22 levels. We recommend that HNPP patients avoid consuming high doses of vitamin C. However, we do not see any problems with a regular dose (75-90mg daily) of vitamin C. This issue needs to be further investigated in carefully designed studies.       

Contact Information:

Professor and Chairman,

Department of Neurology,

Wayne State University School of Medicine and Detroit Medical Center,

4201 St. Antoine, UHC-8D

Detroit, MI 48201

Tel: 313-577-8824 (Office)

Tel: 313-745-4275 (clinic)

Fax: 313-745-4216

Email: junli@med.wayne.edu

Website: https://neurology.med.wayne.edu/liwelcome

NCS VS EMG: What’s Needed for a CMT Diagnosis

Yohan undergoes his first NCS With Dr. Lewis.

Ask an Expert

I’m confused about the difference between electromyograms (EMG) and nerve conduction studies (NCS)—can you please explain?

Dr. Richard A. Lewis* answers:

EMG, which stands for electromyogram (“myo”= muscle), is the term used for electrodiagnostic tests (EDX) for neuromuscular disorders. The total EDX includes both nerve conduction studies (NCS) and needle EMG. Depending on the clinical question, one or both parts of the test may be conducted.

For CMTers, the most important component is the NCS, which determines whether one has a neuropathy and whether it involves sensory nerves, motor nerves or both. If the disorder just involves motor nerves, it’s Hereditary Motor Neuropathy (HMN); if sensory, Hereditary Sensory Neuropathy (HSN) and if both Hereditary Motor/Sensory Neuropathy (HMSN). HMSN is the primary disorder that comprises CMT.

Machine for Nerve Conduction Velocity

Sensory nerves usually only require one stimulation point—the wrist (sometimes the finger) or ankle. The motor nerve conduction study requires stimulation of the nerve: and recording electrodes are put on the surface of the skin overlying the belly of the muscles being studied.

To determine motor nerve conduction velocity, it is necessary to stimulate the nerve at two locations: In the arm, the two stimulation sites are the wrist and the elbow. In the leg, they are the ankle and knee. The motor nerve velocity in the arm is determined by taking the time it takes (latency) for the signal to go from the wrist to the muscle and subtracting that from the latency from the elbow to the muscle. Dividing that nerve latency (subtracting out the time it takes for the signal to get from the nerve to the muscle) into the distance from wrist to elbow determines the motor nerve conduction velocity (see below).

The amplitude of the response indicates whether the nerve fibers are functioning: A low amplitude suggests that many have stopped. The velocity determines whether the disorder primarily affects the myelin and Schwann cells or the axon. The disorders that comprise CMT1 are characterized by very slow velocities and are due to mutations of genes that form myelin. CMT2 has more normal velocities but very low amplitudes and are disorders of the axon. Normal nerves conduct at ~ 50 meters/second. CMT1A usually has nerve velocities around 20 meters/second. There is a somewhat arbitrary cut-off of 38 meters/second (m/sec) in the median or ulnar nerve of the forearm that determines CMT1 or CMT2. CMTX is considered intermediate with velocities between 30 and 40 meters/second.

The EMG portion of the test, which involves the insertion of fine needles in the muscle, can determine if there is nerve damage to the muscle not identified by the nerve conduction tests. This can be particularly helpful in HMN and can determine if there is any muscle involvement in HSN. EMG can evaluate muscles that are more proximal—above the knees and elbows—which are not easily tested with NCS. This can be helpful, but rarely allows a diagnosis of CMT. Because it is not always necessary for the EMG portion of the EDX to be done, the decision should be discussed with the doctor and electromyographer.

Electrodiagnostic studies are not risky or dangerous and do not cause problems afterward, but they can be uncomfortable. The NCS requires electrical stimulation, which is very brief but can be painful. Some CMTers have nerves that are difficult to stimulate, which can require higher amounts of stimulation. This may be painful, but the pain lasts a fraction of a second. It’s best if the patient can allow testing of at least one motor and one sensory nerve even if it’s uncomfortable. Sensory nerves need less stimulation than motor nerves and are less painful. For CMTers, studies of the arms may provide more information than the legs, but each case is different. Relaxation techniques can help reduce anxiety and pain.

The needles used in EMG are very thin and sharp. They are disposable, so there is virtually no risk of infection. They are thinner than the needles used for drawing blood and there is minimal risk of bleeding even if one is on aspirin. Anyone on a blood thinner should bring it to the electromyographer’s attention, but most muscles can be tested even if the patient is taking Coumadin or other major blood thinners. For most patients, the needle examination is only mildly uncomfortable, but for some, particularly patients with aversion to any needles, the needle examination can be painful. The good news is that if needle studies are done, there shouldn’t be the need to study many muscles.

NCS and EMG can be performed at any age, including infancy, but with children, the examination has to be modified to account for their size and inability to fully cooperate during the study. The 38 m/sec velocity that distinguishes CMT 1 and 2 cannot be used under the age of 2. The examination in young children is usually brief and sedation is not normally necessary. If a child is from a family with known CMT that has been diagnosed genetically, then EDX may not be needed. If the child is symptomatic, there may not be a need for any testing.

*Dr. Lewis is the co-director of the Inherited Neuropathy Clinic and the director of the EMG Laboratory and of the Clinical Specialty Clinic at Cedars-Sinai Medical Center in Los Angeles. He moved to Los Angeles in November 2012 after 19 years at Wayne State University in Detroit, Michigan, where he helped develop the CMT clinic. He was the principal investigator of the Vitamin C trial for CMT1A. He has served on the Board of Directors of the Peripheral Nerve Society and is currently on the Steering Committee of the Inflammatory Neuropathy Consortium.

SECRETS: Jeana Sweeney

Thanks to everyone who gave to my Facebook Birthday Wish!! ! So far, I’ve raised $1,900 for the CMTA and that money will be doubled!!!

If you have not yet donated and would like to donate ANY amount large or small, here is the link: https://www.facebook.com/donate/2563852316996537/2560906437338818/

And, if you are not on Facebook, you can still give to my Birthday Wish via CMTA through December 31, 2019 to get a tax write off for 2019 and to have your donation DOUBLED through CMTA. https://interland3.donorperfect.net/weblink/WebLink.aspx?name=E13111&id=28&_ga=2.106271619.1254526883.1577142235-931849416.1568525557

Again, any amount is welcome and since I turned 57, I asked for donations that have to do with 5 and 7! $5, $7, $57, 5X7 – $35, 5+7 – $12…….you get the gist!

As promised, since I reached my initial goal of 1,570 (I turned 57 on December 18) I promised dirt on our beloved Jeana Sweeney and I will not let you down!! Ready? Set? Go!

As promised, since I reached my initial goal of 1,570 (I turned 57 on December 18) I promised dirt on our beloved Jeana Sweeney and I will not let you down!! Ready? Set? Go!

  1. Likes to play mean April Fools jokes
  2. Her husband, Chris, has a twin.
  3. She dressed up in a sexy turtle costume for Cooterfest in Floridaundefined
  4. Has been known to eat M & M’s before bed.
  5. Drinks coffee 24/7.
  6. Likes fishing.
  7. Loves scary movies.
  8. When her kids have any problems or injuries, she says, Take a sip of water, babe.” And it works! The tears dry up, the mood lifts and the day is bright again!
  9. She’s math-challenged, like me.
  10. Jeana hates my cat, Tortellini.
  11. My cat Tortellini told me, “The feeling is mutual.” undefined
  12. She hikes in flip flops.
  13. She will not wear athletic shoes.
  14. She has street smarts.
  15. She uses the word, SLIPPY
  16. Has a BIG face.
  17. Her pinky toes are extra tiny and boneless.
  18. Her biceps are bigger than my thigh!
  19. She loves to throw blue chalk in her campers’ faces.
  20. She belongs to a stock club.
  21. She’s massively competitive.
  22. She dances in public.
  23. She drives like a Nascar driver.
  24. She’s a wonderful host – the hostest with the mostest.
  25. She scratches her ears a lot.
  26. Frugality is her middle name
  27. She rarely eats junk food.
  28. She sings at the top of her lungs, even if she does not know the words.
  29. She always dances like no one is watching, even if people are watching. undefined
  30. She was featured in and on the cover of Johnstown Magazine, Most Beautiful People issue.
  31. Favorite food? Ketchup – with a little bit of hamburger.
  32. Had Lasik eye surgery.
  33. When Jeana gives a presentation, Staples runs out of note cards.
  34. One year, she went to a CMTA event in Italy, right in the middle of CMT awareness month! Guess who covered? Me, of course!
  35. She loves the website: buckle.com
  36. She created and published the Archie the Turtle Cookbook in the space of about 2 months. Impressive work.
  37. She rarely follows through on bets she loses. Don’t make a bet with her!!
  38. She dressed up as a foot and tried to get on TV in New York City.
  39. Jeana whitens her teeth.
  40. After saying good-night to her girls, she always says,”I’ll see your tiny hinney in the morning!”
  41. She secretly likes cream soda.
  42. After every phone call with her girls, she always says, “I love you.”
  43. She rarely watches television.
  44. She ended up in the ER one week after a spider bit her on her side. The swelling and pain were tremendous. She survived…barely.
  45. She thinks she was involved with CMTA before me, but she wasn’t. Hogwash.
  46. Campers from Camp Footprint sent her 20+ potatoes through the postal service!
  47. She met Ricky Martin, in an elevator in 2010! undefined
  48. Many people try to claim responsibility for discovering Jeana. I believe the winner is J.D Griffith from Johnstown, PA. undefined
  49. She has a BIG face.
  50. She leaves her clothes in her suitcase when she travels.
  51. She spent her only free day in Sedona,  Arizona looking for a vortex. Never found one. 😦 undefined
  52. She thinks the world is flat (Just kidding).
  53. She’s tough. She hauled a deer off the road after she and the deer collided. And she had kids in the car!
  54. Before CMTA, she was a rising star at her local Credit Union.
  55. Her husband calls her, “Weenie” (pet nickname).
  56. She met Catwoman (Julie Newmar) for couch talk and another time for lunch. She loved Jeana’s stylin’ pants!
  57. She’s a hard worker, embracing CMT work with her heart and soul. Who else would listen to me when I told her she absolutely needed to be on an important conference call? She said, “But I’m having surgery that morning and will be out of it because of the pain meds.” I said, “ Just put the phone up to your ear and listen. Don’t talk.” Then she told me what I could do with my phone and where to put it! Now that’s the Jeana we all know and love!

Charcot-Marie-Tooth (CMT) Infographic!

It’s really hard to describe what CMT is to people. After about 2 minutes of trying to explain peripheral nerves, neuromuscular disease, genetic patterns and why your talking about a Tooth, eyes glaze over, yawns escape and the subject changes to other topics like….the weather.

Maybe a picture explains the effects of having CMT better than big, long scientific words. I think in pictures, so I thought I’d give it a try. Despite my inability to create stunning graphic images, I’m showing you what I came up with. If you find this graphic to be useful, please feel free to share!! No authorization needed!

CMT Awareness Month Quiz! New Questions – 2019

1) Charcot-Marie-Tooth Disease (CMT) is also known as:

a. Inflammatory Nerve and Muscle Syndrome

b. Hereditary Motor and Sensory Neuropathy

c. Funky Foot Disorder

d. Chronic Tendinopathy with fatigue

2) How many different inheritance patterns does CMT have?

a. 1

b. 2

c. 3

d. Too many to count.

3) Can CMT skip generations?

a.Yes

b. No

4) Can CMT appear in a child if the parents’ DNA is normal?

a.Yes

b. No

5). Is CMT a type of Muscular Dystrophy?

a. Yes

b. No

6). What type of pain might you experience with CMT?

a. Neuropathic or nerve pain

b. Muscle pain

c. Joint pain

d. All of the above.

7). CMT is a heterogeneous disease. What does heterogeneous mean?

a. CMT is an inherited disease.

b. CMT is usually related to having a very high IQ.

c. CMT is caused by many different gene mutations.

d. CMT affects both men and women equally.

8). Can a person have 2 types of CMT?

a. Yes

b. No

9). Is HNPP a type of CMT?

a. Yes

b. No

10).  CMT has no cure. But, non-medicinal treatments include:

a. Physical and Occupational therapies

b. AFOs or leg braces

c. Orthopedic surgery

d. All of the above

ANSWERS

#1 – b

Hereditary Motor and Sensory Neuropathy (HMSN) Hereditary means that the disease tends to run in families and causes problems with the sensory and motor nerves, the nerves that run from the arms and legs to the spinal cord and brain.

#2 – c : 3 

The 3 types of inheritance are Autosomal Dominant, Autosomal Recessive and X-Linked. Autosomal Dominant – the faulty gene is located on one of the numbered, or non-sex, chromosomes.  Humans typically have 46 chromosomes or 23 pairs of chromosomes.  The first 22 chromosomal pairs are called autosomes. Autosomal dominant conditions affect men and women equally, and both men and women have a 50% chance in each pregnancy of passing on the condition.

If a child inherits the mutation, that child will have CMT and will have a 50% chance of passing it on again.  If the child does not inherit the change, that child will not have CMT, will not have symptoms, and will not be able to pass on the change that is in the family in the future. 

Autosomal Recessive – 2 copies of the mutation are needed to cause the disease, meaning neither copy of the gene is working properly.  In almost all cases, the changes in the gene were inherited from the parents. Each parent has one copy of the gene with a change, but because that person has one copy of the gene without a change, that person does not have symptoms of CMT and is called a “carrier.” Only people with autosomal recessive forms of CMT in the family can be considered carriers. Both males and females are affected equally with autosomal recessive conditions, and there is an equal chance of passing it on to a child, no matter the sex. If two people are carriers of an autosomal recessive form of CMT, there is a 1 in 4, or 25%, chance of both passing down the copies of the genes that do not work to a child in each pregnancy. It is only the child that inherits two copies of the gene that have mutations that will have CMT. For a person who has a recessive type of CMT, that person will pass on one of the copies of the gene with the mutation to all of that person’s children. However, only if that person’s partner is also a carrier of a mutation in this gene will it be possible to have a child that is affected with the condition. If the partner is not a carrier, it is not possible to have children affected with a recessive form of CMT, but all children will be carriers.

X-Linked – the last pair of chromosomes is called sex chromosomes. the Y and the X.  For a person with an X-linked form of CMT, the inheritance is different depending on the sex of the person affected. X-linked forms of CMT (such as CMT1X) are caused by a mutation in a gene carried on the X chromosome. Recall that females have two X chromosome and males have an X and a Y chromosome. If a female has a mutation in an X chromosome gene, she will have a 50% chance of passing on that mutation to each of her children, no matter the sex of the child. However, if a male has a mutation in an X chromosome gene, the sex of the child does make a difference. As males pass on their X chromosome to their daughters and their Y chromosome to their sons, all of the daughters of a male with an X-linked mutation will inherit the condition, and none of the sons will. Source: https://www.rarediseasesnetwork.org/cms/inc/Charcot-Marie-Tooth/What-is-CMT

#3. No. 

CMT does not skip generations.

#4. Yes.

Sometimes the parents’ DNA is normal and the CMT variation happens when the child’s DNA is forming. This is called a new or spontaneous mutation.

#5. No No, CMT is not a type of muscular dystrophy.

CMT is primarily a disease of the peripheral nerves. CMT causes weakness and impaired sensory perception because the signal can’t get to and from the brain to muscle and skin, among other things. The muscles atrophy because they aren’t getting the proper signals, but the muscles themselves are not directly diseased, per se. Muscular dystrophy is a group of diseases of the muscle itself, which causes weakness of varying degrees (there are many forms of MD).

Sometimes the heart is involved because it is a muscle too. The lungs can also be affected because the breathing muscles are weak (similar to CMT, although in CMT it is because the phrenic nerves are affected, which in turn weakens the diaphragm, our main breathing muscle). So, in summary, CMT is a genetic neuropathy which is of course a neuromuscular disorder (The euro part of the word comes from nerve). When they were expanding  the MDA early one, they included 41 of the neuromuscular diseases, including Muscular Dystrophy, CMT, Spinal Muscular Atrophy, Myasthenia Gravis and so on. The thing to remember is that when nerves stop sending the correct signals, muscles atrophy and you wind up with similar problems to those experienced by someone with a “muscle disease” like MD.

# 6. D – All the above. 

#7. C

Over 100 different genes have been identified as causing CMT  (and counting).

#8. Yes. 

The statistic is that about 1.5 percent of people will have two types of CMT. Not all variants are disease-causing. In many cases, the results of the genetic tests are often very difficult to decipher and seeing a trained CMT expert who also performs a physical exam is key for an accurate diagnosis.Please see a licensed genetic counselor (www.nsgc.org) to better understand your genetic testing results.

#9. Yes

Yes, HNPP is a form of CMT. There are three different types of CMT associated with PMP22.  People with a duplication of PMP22 have CMT1A, people with a deletion of PMP22 have HNPP, and people with a missense mutation (single letter mutation changing an amino acid) in the PMP22 gene have CMT1E.  All are hereditary forms of peripheral neuropathy, and as CMT is the umbrella name for all forms of hereditary peripheral neuropathy, that would include HNPP. (Written by genetic counselor, Shawna Feely)

#10. D. 

CMT has no cure and treatments are supportive. Foot orthotics and braces (ankle-foot-orthotics, AFOs) are commonly prescribed  to help with foot deformity and foot drop. Surgery to correct foot alignment or to lengthen or transfer tendons is often performed. Physical and occupational therapies are instrumental in providing long lasting quality of life. There is no cure for CMT nor any drug or vitamin known at this time to make CMT better.

Questions? WWW.CMTAUSA.ORG

Has Country Music Television Jumped the Shark? What you need to know about CMT…..

 

There is always country music tunes playing in the background at my mom’s house in Vermont.  This particular rainy summer day, we spent the afternoon dancing barefoot to Johnny Cash melodies playing on the TV in the living room. Resting our tootsies for a brief moment, my mom casually asked, “Why’s Yohan always on his tippy toes?”  She continued, “I always had such a problem getting you shoes because of your high instep, Elizabeth, but this is a little different. His toes are curled and his arches are so high.”  I’d never noticed anything wrong with my son’s physical traits; in my eyes, every part of him was perfection.  I gave a slight eye roll and responded defensively, “His feet are fine. Lots of kids walk on their toes. I’m sure it he’ll grow out of it.”

But he didn’t. His feet just got funkier as time passed.

Little by little, the subtle signs became more pronounced: tripping, toe walking, tight Achilles tendons, fatigue, hand weakness, loss of sensation and balance problems. One day, his PT tapped his knees with a hammer over and over again. His legs did not jerk. In fact, there was no movement whatsoever, meaning he had no deep knee reflexes. She encouraged me to bring him to a pediatric neurologist for further evaluation.

deep knee

The neurologist mumbled something about mild Cerebral Palsy (CP), a possible genetic disease and sent us on our way with prescriptions for an MRI of the brain and blood tests. We were to make a follow up appointment in 6-8 weeks.

 

8 long weeks and 1,000 Google searches later, Yohan was officially diagnosed with CMT or Charcot-Marie-Tooth (shark-o-marie-tooth) disease, named after the 3 doctors who first discovered it. His condition had nothing at all to do with sharks, teeth or Country Music Television. CMT no longer held the innocent and careless connotation it once had. From that point on, CMT became disease to stop, treat, cure before it could destabilize Yohan’s life further.

jgi

 

 

CMT is a heritable neurological disease affecting the peripheral nerves, the long nerves extending from the spinal cord to the hands and feet. Another name for the disease is hereditary sensory and motor neuropathy, meaning it runs in families and affects the sensory and motor nerves. As the disease progresses, the nerves slowly lose their ability to transmit messages to the extremities, causing the muscles of the arms and legs to atrophy. For a person to be affected with CMT, that person must have one (or two, depending on the type of CMT) disease-causing mutation in one of the genes that causes CMT.

CNX_Psych_03_03_NervSystem

Both my husband and I were tested for CMT and our results were, without a doubt, negative. Neither of us had CMT and CMT does not skip generations. So, how was this possible? We quickly learned that CMT can also result from a new or spontaneous mutation, otherwise known as “de novo.”

Common symptoms of CMT include:

High arches, curled toes, inability to lift the foot at the ankle, numbness or burning of the feet and/or hands, muscle wasting, poor balance, loss of hand dexterity and debilitating fatigue.

Capture

Additional symptoms may include chronic pain, sleep apnea, curvature of the spine, vocal cord paralysis, hearing loss, breathing and/or swallowing difficulties.

CMT is currently incurable, but not usually fatal, though it can be severely disabling. And, although there is no drug treatment for CMT, physical and occupational therapy, moderate activity, leg braces and even orthopedic surgery can be helpful.

Thankfully, I found the Charcot-Marie-Tooth Association (CMTA) soon after my son’s CMT diagnosis 19 years ago. The CMTA not only provides resources for people with CMT, but is aggressively pursuing treatments and cures for all types of CMT (over 100 genes have been identified as causing CMT) with its treatment-driven research initiative, STAR (Strategy to Accelerate Research). The ultimate goal of STAR is to slow, stop, reverse the progression of CMT. With the advent of gene therapies, a cure for CMT is within reach and closer than ever before.

EDkItlPW4AEf65T

Yohan is now 26 and has just graduated with his Masters in Organizational Psychology. With chronic fatigue, pain, scoliosis and extensive foot surgeries, Yohan has a positive outlook and a great sense of humor. His involvement with the CMTA (helping at Patient/Family conferences, answering CMTA member questions,  speaking at national branch meetings and leading youth groups) has been most helpful in embracing the disease, creating resilience and reinforcing strength of character.

IMG_4237
Cycle 4 CMT event – August, 2019

 

He knows there are a lot of very smart people working hard to bring treatments to the forefront and armed with this knowledge, he lives each day to the fullest, focused on the here and now.

This is a family disease and as such, many generations of families across the US are involved with some aspect of the organization –raising critical dollars for research, acting as reliable and knowledgeable resources for the community and helping others come to terms with the disease.

Together, we are out to change the world, one footstep at a time – http://www.cmtausa.org

Won’t you join us? Never is too late to get involved!

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

What do Sharks, Teeth and Country Music Have in Common?

By Elizabeth Ouellette

My mom was the first to point it out. “What’s going on with his feet?” She asked one day when my son, Yohan, was 6. “I always had such a problem getting you shoes because of your high instep, but Yohan’s toes are curled, and he walks on his tippy toes.” I’d never noticed anything wrong with my son’s physical appearance, and her comment took me off guard. I gave a slight eye roll and responded defensively, “His feet are fine. Lots of kids walk on their tippy toes. I’m sure it he’ll grow out of it.”

But he didn’t.

Little by little, the subtle signs became more pronounced: tripping, toe walking, tight Achilles tendons, fatigue, hand weakness, loss of sensation and balance problems. One day, out of curiosity, his PT tapped his knees again and again and again. No deep knee reflexes were found. She encouraged me to bring him to a pediatric neurologist for further evaluation.

The neurologist mumbled something about mild Cerebral Palsy (CP), a possible genetic disease and sent us on our way with prescriptions for an MRI of the brain and blood tests. We were to make a follow up appointment in 6-8 weeks.

8 long weeks and 1,000 Google searches later, Yohan was officially diagnosed with CMT or Charcot-Marie-Tooth (shark-o-marie-tooth) disease, named after the 3 doctors who first discovered it. His condition had nothing at all to do with sharks, teeth or Country Music Television.

CMT is a heritable neurological disease affecting the peripheral nerves, the long nerves extending from the spinal cord to the hands and feet. Another name for the disease is hereditary sensory and motor neuropathy, meaning it runs in families and affects the sensory and motor nerves. As the disease progresses, the nerves slowly lose their ability to transmit messages to the extremities, causing the muscles of the arms and legs to atrophy. For a person to be affected with CMT, that person must have one (or two, depending on the type of CMT) disease-causing mutation in one of the genes that causes CMT.

Both my husband and I were tested for CMT and our results were, without a doubt, negative. Neither of us had CMT and CMT does not skip generations. So, how was this possible? We quickly learned that CMT can also result from a new or spontaneous mutation, otherwise known as “de novo.”

Common symptoms of CMT include:

High arches, curled toes, inability to lift the foot at the ankle, numbness or burning of the feet and/or hands, muscle wasting, poor balance, loss of hand dexterity and debilitating fatigue.

Additional symptoms may include chronic pain, sleep apnea, curvature of the spine, vocal cord paralysis, hearing loss, breathing and/or swallowing difficulties.

CMT is currently incurable, but not usually fatal, though it can be severely disabling. And, although there is no drug treatment for CMT, physical and occupational therapy, moderate activity, leg braces and even orthopedic surgery can be helpful.

Thankfully, I found the Charcot-Marie-Tooth Association (CMTA) soon after my son’s CMT diagnosis 19 years ago. The CMTA not only provides resources for people with CMT, but is aggressively pursuing treatments and cures for all types of CMT (over 100 genes have been identified as causing CMT) with its treatment-driven research initiative, STAR (Strategy to Accelerate Research). The ultimate goal of STAR is to slow, stop, reverse the progression of CMT. With the advent of gene therapies, a cure for CMT is within reach and closer than ever before.

Yohan is now 26 and has just graduated with his Masters in Organizational Psychology. With chronic fatigue, pain, scoliosis and extensive foot surgeries, Yohan has a positive outlook and a great sense of humor. His involvement with the CMTA (helping at Patient/Family conferences, answering CMTA member questions,  speaking at national branch meetings and leading youth groups) has been most helpful in embracing the disease, creating resilience and reinforcing strength of character.

He knows there are a lot of very smart people working hard to bring treatments to the forefront and armed with this knowledge, he lives each day to the fullest, focused on the here and now.

This is a family disease and as such, many generations of families across the US are involved with some aspect of the organization –raising critical dollars for research, acting as reliable and knowledgeable resources for the community and helping others come to terms with the disease.

Together, we are out to change the world, one footstep at a time – http://www.cmtausa.org