Life with CMT: When he left, I yelled, “Break a Leg!” So he did. 🤦‍♀️

We’re back! Yohan yelled, sliding the door to the garage open. I noticed he was walking funny, not CMT funny, but like he had a stiff leg, a heavy foot, an injured limb? My perplexed look begged the question… What now?

He brushed off my concern, acting if I were being overly paranoid and concerned (like usual). “We had a great ride and of course, on the last mile, I was tired and I took a spill. I just sprained my ankle… and…well my elbow is banged up. Oh…. and sharp stick pierced the palm of my hand when I hit the ground, but overall, I’m fine. It’ll be better in a couple of days, he said, limping down the hallway.”

After a hot shower and short rest, I took a look at the damage. “My ankle is hardly swollen,” he insisted. I pointed out that the last time I had looked at his ankle, I could see a prominent ankle bone. Now it looked puffy and bloated, as if a small jelly fish had snuck in there and took up residence. So, the crutches came out of the closet, along with the sickening memories of past orthopedic surgeries, months and months of plaster casts, pain, boots, stinky feet, scars, blood and sores.

Our bald kitties ran across the hardwood floor to greet him, but one look at the clanking crutch made them hit the brakes and off they went sliding uncontrollably, face planting into the wall. Thank God the cats make us laugh!

Recognizing the all too familiar clunk, thud, clunk, thud of Yohan’s footsteps as he made his way across the room, I too wanted to hit my head against the wall, cursing CMT to eternity and back.

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Curious Cats

Yohan’s had so many trips, falls, ankle sprains and surgeries, he knew the drill. No, not RICE. We changed that acronym to RICED. Rest. Ice. Compression. Elevation. Drugs…can’t forget the Tylenol, Aleve, etc.

There wasn’t a lot of pain, but by Monday, Yohan intuitively knew he’d better get it checked out by his doctor. This was the foot on which he has had 2 reconstructive surgeries, with mediocre results.

When the films were placed on the viewing pane, there were a lot of aahs and oohs. His x-rays lit up the room like lights on Christmas tree. The techs were amazed at the hardware holding his foot together. But who was the jokester who took a pen and drew a fine line across the outer leg bone?

What’s in your toolbox?

Fractured Fibula

Diagnosis? A hairline fracture of the fibula requiring 2 months in a walking boot, 24/7, except to bathe. Ugh. Well, it could have been worse, but it still sucks.

Home we went, trying to wrap our heads around the news. The first order of business was to purchase an even-up foot riser to avoid throwing his opposing hip out of joint. He learned pretty quickly that the even-up foot risers are treacherous as they get caught on everything…..even air. The utmost caution is warranted. And if you don’t catch the edge of the foot riser on something, the cats will make sure you fall…..hard.

Walking on 2 CMT feet is tough. Put one of those in a boot and now balance on one very high-arched foot, whose toes curl in and up, and sprinkle in some ankle supination (outward turning ankle). Not for the faint of heart!

Supination

Typical CMT Foot

Next, he looked for additional boot liners. Seriously, they send you home with 1 boot with liner. The “hand wash only” liner smells like death after the foot is enclosed within its sweaty fabric for only 24 hours. Yohan ordered a second boot (the lux version of the same brand) so he could wash the liner every other day. Luckily, when a piece of the plastic from the first boot started digging into his heel, he had a cushy alternative.

The pain from the fracture was bearable, but he started to get a painful pressure sore on the bottom of his foot which thankfully abated when slipping his orthotic into the boot. The first several nights sleeping with the boot were tough, but gradually his body got used to the inconvenience.

This morning, he woke up with a smile!! He was celebrating his 2 weeks down, six weeks to go in a boot! He’s a glass half full kind of guy.

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Taking a step back, here are my reflections:

Yohan’s new electric mountain bike offered a rainbow of opportunity, where, for the first time in quite a long while, Yohan could just be one with his friends, his dad, and his people. He did some pretty amazing rides, going places and seeing things not seen before. And these days are not gone, just suspended for a short period of time. Not the end of the world, but a bummer all the same.

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What was and what will soon be.

I guess we all have ups and downs. Personally, I prefer the ups, but don’t we all? I believe the ups build experience and self-esteem and the downs build strength of character. And then there are all the in-betweens. Every emotional state –happiness, sadness, anxiety, fear, anger – is transient, so accepting the peaks and valleys with calm and acceptance makes each situation a little easier to handle.

Life’s highs and lows are an inevitable part of being alive, so I try to enjoy the highs, learn from the lows and experience everything else in between with an open heart. I know….easier said than done.

Yohan will get through this small setback. It will become a faint but unforgettable memory that will be part of his ongoing arsenal when dealing with upcoming challenges, setbacks and successes. He’ll get back on that bike…of this I’m sure. Why? Yohan is no stranger to adversity.

He’s not giving up or giving in. He’s found an activity he thoroughly enjoys, an activity which is exhilarating and fun, creating long-lasting memories of freedom and adventure. Also, he’s determined to cycle in the Cycle 4 CMT event with his Uncle Chris, his dad and maybe even me! The Cycle 4 CMT (in person or virtual) is so much more than a cycling event……It’s a celebration of strength, resilience and community.

Vincent and Yohan

Want to know more about the Cycle (and Walk!) 4 CMT? www.cycle4cmt.com

Join us in the spirit of uniting with like-minded people, to fund research to put a stop to CMT. There is no cure for CMT… yet. But there will be because we, our CMT warriors, friends, family, loved ones, are going to make it happen. Grateful, so grateful for our community. Xo

UK’s Peter NEVILLE: CMT Warrior

 

By Peter Neville

How should I start? The beginning’s always a good place! Join me on my journey!

 Childhood Struggles

As a child, all the tell-tale signs were there; you know, the not being able to run fast, tripping over your own feet or hanging onto the old rope swing across the river. Yes, I got wet EVERYTIME!

I was also diagnosed with Perthes disease (a condition where the top of the thigh bone in the hip joint loses its blood supply, damaging the bone.) and treated accordingly, with 2 weeks in traction. My leg was set in a cast and weights were added daily in the hospital to pull the joint apart.

At about 17/18 years of age, I spoke with a GP (general practitioner) with regards to my hammered toes. The response was, “We wouldn’t do anything about them unless you couldn’t walk.” It occurred neither to him, nor to me anything more was wrong. 

Apprentice Chef

 I left the field of education at 19 after 3 years working as an apprentice chef in Jesus College, Cambridge University. I evolved within my time here from boy into man and was worked hard by my mentor (sous-chef), but he saw the potential I had. In my 3rd year, the college turned 500 years old and on my shift, we celebrated the new £1billion library; HRH Queen Elizabeth & Prince Philip visited for lunch….. The very lunch I had to cook!! Apparently, I was the youngest ever apprentice in 500 years and was being presented to the Royals in the afternoon.

Early Career

From here, I progressed in different establishments, one that Jamie Oliver’s dad, Trevor, owns. At 29, I was running my own catering business and had 3 different kitchens to run. Several years later, I was diagnosed with carpal tunnel syndrome I had surgery, which made little difference. The odd pot of soup or sauce would hit the floor or occasionally I’d trip. only to dump yet another plate in the bin.

Garden Center

I went back to work for another company and closed mine down. It was an easy little job in a busy garden center. It didn’t change me though and physically, nothing changed either. But gradually, it became apparent I had lost partial hearing. We worked around it for a few months. I got hearing aids….Great! At least I could hear the birds again. Then came the wrist pain again, so back to the GP I went. “I’m sending you to see a neurologist,” he said, somewhat puzzled.

Charcot-Marie-What?????

I walk into the neurologist’s office and offered to shake hands. The next line from her totally threw me: “Can you remove your socks and shoes for me please?” A rather strange request for someone with wrist issues! Looking at my high arches, she pointed out my pes cavus feet. With this, she announced, “Mr. Neville, I’m sending you for a genetic blood test and I’ll see you in 3 months time. I believe you may have Charcot Marie Tooth disease (CMT).” At this point in time, I was 38 years old.

 In the UK, we’re fortunate to have our NHS or National Health Service for which we pay in a national insurance scheme on all earnings. If we have treatments, certain medicines or appointments, it’s all covered.

De Novo or New Mutation

Anyway, the results were in and verified. I’m a CMT 1A mutant, meaning I have the first known case of CMT in my family. I knew nothing about it, knew no one with CMT and was directed to speak with someone at Muscular Dystrophy, UK. Muscular Dystrophy UK has a fantastic advocacy service which is free and many CMTers who have trouble with grants, equipment, etc. MDAUK helps these people in a number of ways. They even helped me with a grant for my mobility scooter! 

Surgeries

Surgery wise, I’ve been quite lucky in that I’ve had toes 2,3 & 4 fused on the right foot. Both big toes have had Jones procedures ( fixing and screwing the big toe so it no longer bends and the tendon is removed to keep it from moving.) I’ve had both Achilles tendons lengthened and one ruptured Achilles tendon I still need to deal with. I’m awaiting surgery where a tendon from my shin will be moved to support my left Achilles.

Peer Support

The Charcot-Marie-Tooth Association (CMTA) was the first Facebook group I joined and decided the UK would benefit from a similar group, so I created the Facebook group – CMT Friends UK – England. We are now 5 years old, with over 1600+ members. I’ve had specialist training in peer support and I’m also about to take a course in adult safe guarding (a framework which safeguards employees from exploitation).

Today, I’m dedicated to helping others as they get diagnosed with Charcot-Marie-Tooth disease. I am able to empathize with their struggles in daily life with simple tasks. I believe we have to push ourselves daily because if we just sit back, CMT wins.  Over the last five years, cmtfriendsuk has made a difference in people’s lives.

I’ve had several people telling me that they no longer feel lost or lonely and have a safe place to rant, ask silly questions (they turn out to be vital) and most importantly of all, be understood. The first thing we say is, “Welcome aboard the CMT crazy train!” We have 1500+ members who have walked in your shoes and sung from the same song sheet.

I have a very close friend who I came across in CMTA Faebook pages around 5 years ago. Sophie was diagnosed with CMT 1A at a similar time as me and now we’re like brother & sister. We both reached out and found each other. Adam Miller is a good friend and admin on cmtfriendsuk. Adam often tells me that I saved him from the pit of destruction. We’re like brothers. 

In fact, I keep myself positive by engaging with many people across the UK with CMT and strengthen bonds with those who are in the shoes I wore 5 years ago. Peer support work is a fantastic opportunity to work with people who are in need of help, a shoulder or a virtual hug. I’ve found that by helping others, it then in turn helps me as I stay focused. 

For newcomers to the group, the most vital information is: “You are not alone anymore!” There are others out there. The best thing to come from CMT? The CMT Warriors! 

Test Subject

On occasion, I’ll be contacted by the local hospitals to be a live model for training purposes of new neurological doctors in training. Each appointment I attend, I’m armed with CMT literature for both patients and medical staff.

About Me

I’ll be 44 in August. I’ve had 7 operations and more to come. I try to live as normal a life as I can with CMT. I go fishing in my spare time and love the great outdoors and fishing (I caught the biggest known fish from the nearby lake, (27lb 4oz) . Last year, my stepson Danny jumped out of an airplane from 10,000ft and raised £520 doing so.   

I also love birds and taking different pictures or videos. 

I live with my partner Tracie and we share our anniversary on April 26, 2021 ( 8 years together). Tracie is my rock, soul mate and love of my life. I have 3 children: a 21-year-old son with mild CMT1A, my princess daughter, 17, who also has CMT 1A and my youngest is 9 with no signs yet. Although they live on the opposite side of England, we often facetime with them. 

My moto in life is a simple one. If I can make one person smile each day or feel better about themselves, then I’m winning in life. 

If anyone wishes to follow me on Instagram please feel free to do so:

            #the_cmt_warrior

I chose the name the_cmt_warrior as felt it fitting for myself as I battle in many ways against CMT and often refer to it as a realm within which we live. We all battle for the long run and a cure for the future to come but until then, we must fight.

One thing that stands out that I did achieve was turning the town purple for purple Tuesday. Attached is a video of me on UK TV about this. Enjoy!

CMT – What are your thoughts? Got a story, suggestions, wisdom to share? I’d love to get to know you and possibly share your story. Write to me at:

elizabetho@outlook.com

Old Man’s Journey with CMT

By Jeff Dols

My name is Jeff Dols. I am 71 years old and I have Charcot-Marie-Tooth disease. I don’t mean for that to sound like an AA meeting, but it’s just a few basic facts. While it’s not my intent to preach at anyone, a little preaching may be involved.

Some background:

I was diagnosed in 1964 at age 14. The clumsiness, sprained ankles, strange walking gait, hunched shoulders, and spinal curvature were all there but not connected. It was a broken hip from a fall to finally lead my parents to try to find out what was going on. That evolved into a day at Stanford University Hospital Clinics where I sat in an exam/conference room for 5 hours in a thin cotton gown as 5 teams of doctors poked, pricked, measured, prodded, tuning forked, zapped and generally explored. At the end of the day, I was excused and my parents were told I had Charcot-Marie-Tooth disease. I was told a few weeks later, but there were no details except that the disease was inherited, degenerative and had no treatment.

My mother was diagnosed too, but only after a lifetime of being treated as a Polio patient.

At age 16, I looked CMT up in a Medical Dictionary. It said, “a progressive, neuromuscular disorder, occasionally fatal.” So far, the fatal part has proven to be wrong, like so many things about CMT in the early years.

I have been lucky in that my disease is fairly mild. I had a mostly normal childhood and did the things most kids did, just not very well or as fast. There were things I could not physically do and things I was not allowed to do. I was just “a bit off”.

My diagnosis in 1964 gave me the starting point for answers to the question of what was going on with me. I learned I was never going to make a living with my body, so the NFL was out. I figured I better get an education to make a living. My mind is the one part of me CMT has never touched.  While some may  disagree, this is my letter, my life and so my reality.

This letter is not a complaint about my life or CMT. I went on to college, had a 40 plus year career in Sales and Marketing that took me all over the county and around the world. I met all types of people and experienced many different cultures. I would not change any of it. I worked hard, had a good time (mostly), and learned a great deal about myself along the way. CMT taught me how to deal with people and made my career choice ideal.

Now to the point, this letter is about the lessons I learned in 55 years of dealing with CMT.

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Jeff in his workshop.

Lessons like,

  • I don’t use CMT as an excuse to get out of things. It’s dishonest and an abuse of those around you.
  • I learned to work around CMT issues because it was the only way I could live my life. Early on, when no one had answers, you had to be creative and make it up as you went along. That ability is key in dealing with CMT.
  • I am not hesitant to ask for help when I need it, but I don’t let people volunteer to help when they think I need it.
  • If I can do something, I will do it, no matter how long it takes. Eventually, CMT may tell you to go find a different way but CMT has probably been telling us that for years.
  • When people stare at the way I walk or at my leg braces or how my hands cramp up at the worst times, I make a joke about it or ask if they are having a bad day too. Not in a confrontational way, but with a smile and a genuine desire to help put both of us at ease and to remove the barrier CMT can be, especially with kids.
  • Treat your doctors with respect, the same respect you show your plumber. You hire either one because they have an expertise you don’t. Treat both with respect until a time comes when respect is not mutually viewed as required. Then tell them how you see things and realize it may be time to find a new plumber.

I am 71 years old now and I still manage an independent life. It’s a more limited life than 20 or 30 years ago but whose isn’t. I make it a point to always look for tools and tricks that make life just a bit easier.

Julie and Jeff in the kitchen!

By tools and tricks I mean:

  • A button hook to buttoning my shirts and pants.
  • A small hook I keep on my key chain for those time when I can’t manage to pull my zipper up. It’s embarrassing to walk into a public restroom with your shirt tucked in and come out with it untucked. Can be a bit drafty too.
  • A sock puller aid to get my socks on and off.
  • My AFO’s allow me walk in a mostly straight line. And I do walk, three to four times week, with my special walking stick to help keep me going in one direction at a time.
  • My AFO’s are great shoehorns too.
  • My Velcro strap shoes save me time, frustration and limits the use of bad words that come out with trying to tie shoelaces.
  • I drop things all the time and to pick them up, I keep BBQ tongs handy. My wife calls them my “Geezer Tweezers”. I have 4 pairs scattered around the house and garage.
  • Soft handled knives and utensils make it possible to safely grip a knife so I can still cook. Yes, I can cook. Soft handled flatware is in the future though.
  • My Kindle means I can read most any book I want without the struggle of turning actual pages. When you spend so much time trying to turn a page, you tend to forget what you just read. Reminder, I’m 71.
  • I love my glass of wine and I found a cork puller I can use. Because of balance issues, I limit it to just one glass and only with dinner. I really miss that second glass though.
  • I still drive. Thank God for all the safety features cars have now. They keep innocent people safe.
  • I type 22 words a minute with 7 errors. Voice to text software is in the very near future.
  • An often-used tool of mine is a large master closet with no exterior walls. On bad days, when things really get to me, it’s where I go to shut myself in and rail at the gods and yell at the top of my lungs. Never mind what words I may use; the neighbors can’t hear me and why would I care anyway.
Jeff and Julie (His secret weapon).

But even with all the helps and the aids, the secret weapon that makes my life work is my wife, Julie. We have been married for 30 years. She has seen the best and the worst of me and she is still here. She knows what may be coming and she is still here.

When I am being an ass, she points out that I am being an ass, not always in the most tactful manner but she has rights and I tend to be “insensitive” on occasion. Remember the closet.

She laughs at me on a regular basis, even when I can’t see the humor. Example, in a furniture store, I got my AFO caught under a piece of furniture and no matter how hard I tried, I could not get it free. Julie laughed so hard I though she going to pass out.

When I do something especially stupid, she will yell, “Jesus Jeff”. She has yelled it so often and so loudly I think the neighbors wonder if I am some sort of demented deity.

Julie always has my back and will help when asked, even when she doesn’t think I deserve it.

Everyone needs a Julie in their life. If you have CMT, the need is greater.

So, the advice I would give kids and families dealing with CMT based on my 71 years of dealing with it:

  • CMT is going to win most battles. The trick is to make sure you lose on your terms. Don’t just accept, fight back and look for workarounds.
  • CMT affects many aspects of our lives, but it will not define who you are unless you let it.
  • As much as possible, don’t let CMT limit or constrain your life.
  • Don’t be afraid to ask for help, but always look to yourself first.
  • I keep physically active and exercise regularly. CMT will rob your physical abilities so do all you can to keep the strength and muscle tone you have.
  • Ask questions of your doctors and care givers. If you don’t understand the answers, ask again. Remember, you’re the one paying the bills and, in the end, they’re all just better educated plumbers.
  • Nurture friendships and make sure they feel free to call you an ass when you need it. If nothing else, it starts a conversation.
  • On bad days, don’t be an idiot and bring everyone around you down. You may have CMT, but the world does not revolve around you. Remember the closet.
  • On the good days, share it with the people who make the days good. They should share the good too.

A life with CMT is a life with lots of twists and turns, roadblocks and cliffs. Deal with them as best you can but always remember, each new issue is a shift to your new reality. Use the tools you have, adapt, and keep moving.

A life well lived is an adventure. If you have CMT, it can be a bit more adventurous but that just means the rewards are greater and the memories more impactful. And when you get older (and you will) and look back on your life, don’t just look back, but turn around, look forward and go see what’s next. The adventure ends only when you allow it to.

Here’s to cures and treatments to come so today’s CMT kids will be the last generation to be challenged by CMT.

Thanks so much to Jeff for his CMT story. It’s full of life experience, humor and common sense strategies. I feel grateful to have been given the opportunity to share his story with the CMT community. There is something for everyone, so enjoy!!

Do you have a CMT story? Would you like to share it? If so, write me: elizabetho@outlook.com I’d love to hear from you!

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!!

CMT AND LOSING WEIGHT

By Sara Kevern*

Q: I have gained a lot of weight since March after the start of the shelter in place, and continued to gain throughout the year due to COVID restrictions, stress, etc. Is CMT making this worse? What can I do about it?

A:  First of all, you’re not alone! This is one of the most common things I’ve heard from patients and clients in recent months. Weight gain during the last 9 months or so is very common. For most people it has been a combination of stress, uncertainty, depression, lack of routine, inability to fit in traditional physical activity, and lots of free time to eat.

If it took you 9 months (March to December) to gain the weight, you can count on it taking at least 9 months to lose again. That said, it is most likely going to take even longer because weight loss is inherently more difficult than weight gain. The bottom line is to adjust your expectations and try to exercise patience during the process. The most important thing is to just keep going, stay consistent, and try not to let the slow progress derail you. If you have a tough day, making small progress and steps forward is always better than staying off track.

CMT itself is likely not slowing your weight loss, although you may be limited in physical activity which can make weight loss more difficult. When we discuss losing weight what we’re really talking about is creating a calorie deficit. Calories in must be less than calories out in order to lose weight. Exercise alone is unlikely to be enough to promote weight loss without dietary adjustments. Exercise helps create a larger calorie deficit and has more benefits including muscle health, cardiovascular health, mental health, etc. so it is important to exercise regularly on this path to weight loss. Diet, however, is going to have the highest impact on weight loss. Eating less, but still above the basal metabolic rate, is the target to hit. For most women BMR is 1200-1500 calories per day; men are 1500-1800 calories per day. Eating significantly less than your BMR may actually stunt your weight loss efforts.

It may help to really examine your eating habits during the shelter in place and identify the parts that significantly changed from what you were doing before. Those are the parts of the diet to target and try to work on. There is not one general recommendation for everyone to help lose weight, it’s a matter of looking at your individual habits and making adjustments for the most success.

Don’t give up! Working on your diet and exercise on a daily basis will yield results over time, but it will likely take longer than you hoped.

*Sara Kevern, RD, CNSC
Clinical Dietitian III

Sara Kevern, RD, CNSC

Sara Kevern is a Registered Dietitian and Nutrition Support Specialist at Stanford Health Care and Stanford Children’s Health. She joined the Neuromuscular team in 2019 to inaugurate and build nutrition services. She works as part of the multi-disciplinary clinic where she provides Medical Nutrition Therapy to those patients diagnosed with neuromuscular disorders. Sara completed her training at Ohio University and has been practicing as a clinical Registered Dietitian for 8 years.

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. 

Active Living with CMT: Exploring the Health Benefits of Urban Living for People with CMT

By Mike Driedger

As someone living with CMT, I’ve found that living in a city — in my case, Toronto — has made living a healthy and active lifestyle easy.

Of course, urban living might not work for you. But I’d like to share with you how I owe much of my health, mobility, and happiness to living in a walkable and cycleable community.

To start, let me introduce myself. My name’s Mike. I’m a 39-year-old male living in Toronto with my wife, and I have CMTX. While I haven’t begun using AFOs yet, my CMT has progressed to the point that I do regularly walk with a cane for stability — like many of you, I’m a wobbly guy who’s prone to falling down.

I live just outside of Toronto’s downtown core in a 25-storey apartment building. I originally moved in because it had both a swimming pool and a gym, which has made daily exercise, especially in our harsh Canadian winter, so much easier — all I have to do is go downstairs! Even at the end of a long day, having the pool and gym only a few floors away makes it hard to be lazy. On average, I swim about two km (1.2 miles) each week. And now, after 12 years of living with these amenities, I can’t imagine living without them.

Mike at the pool!

Toronto is a dense metropolis with many walkable neighborhoods. Most of central Toronto has a high walk score, which means most amenities — such as grocery stores, pharmacies, community centers, restaurants, and bars — are within walking distance to residential areas. So, I walk a lot. I walk for groceries with a wheeled “drag bag.” I walk to run errands, go out to restaurants, and to meet up with friends and family.

Using a “drag bag” in town.

For distances a little farther away, I walk to public transit stops, take a bus, subway, or streetcar, and then walk the rest of the trip. As I already mentioned, I walk with a cane most of the time, but occasionally switch to walking poles in the winter.

When I’m not walking, I’m biking. I bicycle to work most of the year, except during the iciest and snowiest months of winter. During those months I drive my car — yes, I have a car, but only drive about 6,500 km (4,000 miles) a year.

My office is about 8 km (or 5 miles) from home, so it’s a reasonable bike ride both ways. I’m also lucky that my employer values active transportation and has shower facilities for employees. This seems to be something that more and more urban-based employers are providing, and it’s definitely appreciated.

So I’ve managed to set myself up with an active lifestyle where I can swim, walk, and bike regularly: urban living has allowed me to stay physically active on a regular basis. In fact, many urban centres like Toronto actually make it harder and more expensive to drive than to walk, cycle, or take public transit. By default, I’m active and getting physical exercise just going about my daily life. Whether heading to work, shopping for groceries, running errands, visiting friends, or heading out on the town, I’m using my own body to get there. Plus, having a gym and pool in my building means I don’t have any excuses, even when I’m home.

Luckily for me, my wife loves being active and exercising too, and maybe even more than I do — she often pushes me to keep going. We often joke that our hobby is exercise.

As someone with CMT, I find that this works really well to ensure I’m fit and staying active. Not only do my daily routines and life keep me mobile, but I actually enjoy swimming, cycling, and going on long walks in my spare time. Urban living has made all of this easy.

I’ve found that the best path for physical health is about making exercise as easy and as part of your daily routine as you can. Look, even if big-city living won’t work for you, maybe it would benefit someone you know. If you’re young and still trying to figure out where you want to live for school or work, at least consider the simple health benefits of living in a more accessible and walkable city or town. As a person with CMT, you don’t need to “find time” to be active — it’ll just happen.

________________________________________________________________________________________________

Mike Driedger is the Co-Leader of the CMTA Toronto, Canada Branch. He’s also on the CMTActive Facebook team, moderating the group and encouraging members to be active in their daily lives. Mike himself is passionate about keeping active and a proponent of active transportation. He cycles to get to work and walks, swims and cycles in his free time. He’s a Program Director focused on work engaging people and businesses on issues related to health and the environment. Mike has a BA in environmental studies with a sociology stream and a graduate certificate in environmental management and assessment. Mike lives in Toronto with his wife, Adrienne, and their mischievous cat, Diego. He loves to explore the sights, sounds and tastes within his own city, as well as in destinations around the world.

Mike participated in the VIRTUAL Cycle 4 CMT, riding 1,000 km throughout the month of August, raising an amazing $3,800 for CMTA research – STAR or Strategy to Accelerate Research. If you’d like to donate to Mike’s efforts, go to: https://cmta.akaraisin.com/ui/cycle/participant/6048747

If you’d like to contact Mike, his email is: mdriedger@gmail.com

Never Say Never: How an Ebike Rocked Our World

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

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

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

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

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

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

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

Look Mom! No training wheels!

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

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

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

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

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

The smile says it all!

September is CMT Awareness Month: New Quiz for 2020!

How much do you know about CMT? Take the quiz to find out and let us know how you did! Answers at the end. Good luck! For more information on CMT, CMTA or CMTA STAR research, please visit: http://www.cmtausa.org

*Denotes explanation at the bottom of page.

1) CMT is a genetically heterogeneous disorder. What does heterogeneous mean?

a. Like the process of breaking down fat molecules in milk, CMT can be broken down into smaller particles through a high-pressure procedure.

b. Mutations in different genes can produce the same clinical symptoms.

c. A term used to explain the genius-level IQ of most people with CMT.

d. Belonging to the same family,

2) When researchers study the natural history of CMT, what exactly are they doing?

a. They are trying to figure out which components of CMT are artificial.

b. It’s all old news.

c. They are studying the progression of CMT over time.

d. They are trying to determine the origins of CMT and when it all began.

3) People with CMT often use AFOs. What does AFO stand for?

a. Ankle Foot Orthosis

b. About-Face-Onward

c. Air Force One

d. Area Financing Officer

*4) What is HNPP?

a. HNPP stands for Hereditary Neuropathy with Liability to Pressure Palsies

b. HNPP is a sub-type of CMT.

c. HNPP is most often caused by a deletion of the PMP22 gene.

d. All of the above.

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5) What is Foot Drop?

a. An abrupt 1-foot fall or slope

b. Inability to lift the foot at the ankle due to weakness or paralysis of the anterior (front) muscles of the lower leg.

c. A secret play in football when the quarterback drops the ball 1 foot from the goal line.

d. The name of a used shoe company.

6) To date, how many genes have been found to cause CMT?

a. 10

b. Over 100

c. 212

d. We cannot count that high.

7) If a child inherits CMT from a parent, will it be the same type of CMT?

a. Yes. The type of CMT does not change between generations.

b. No. CMT is variable and changes sub-types from one generation to the next.

c. Children do not inherit CMT from parents.

d. I do not know, but the child will love Country Music Television!

*8) Is CMT like Muscular Dystrophy (MD) or Multiple Sclerosis (MS)?

a. Yes, because CMT is under the Muscular Dystrophy umbrella. 

b. No. They are completely different and separate diseases.

c. No one really knows.

d. Yes, because MD, MS and CMT are just different acronyms for the same disease.

9) Anyone in the world can be born with CMT because everyone is susceptible to random or de novo gene mutations.

a. Only people in the US are susceptible to new, random mutations.

b. This statement is false.

c. I have no idea if this is true or false.

d. True

*10) If two people who have an autosomal dominant (“Autosomal” means that the gene in question is located on one of the numbered, or non-sex, chromosomes. “Dominant” means that a single copy of the disease-associated mutation is enough to cause the disease) form of CMT (like CMT 1A) have children, what is the chance that their children will inherit CMT?

a. 0%

b. 25%

c. 75%

d. 100%

*11) What is Dominant Intermediate Charcot-Marie-Tooth Disease (DI-CMT)

a. A rare, dominantly inherited type of CMT

b. Just an expression used to liken the inheritance of CMT to a roll of the dice.

c. Does not exist. Just a made up name to throw you off the right answer.

d. A type of CMT that affects people with Type A personalities.

12) Your CMT genetic test comes back negative. What does this mean?

a. No one really knows.

b. You still may have CMT. There isn’t any one lab testing for all known mutations in any one test. Moreover, not all genetic mutations underlying CMT have been found or can be detected with a DNA test.

c. A negative result rules out CMT since all sub-types of CMT are easily recognizable.

d. Retake the test 5-6 more times to be sure of the results.

13) What does the CMTA’s research initiative, STAR, stand for?

a. Strategy to Accelerate Research

b. Strategy to Advance Rats

c. Situation, Task, Action Result

d. Sewage Telecommunication Access By Robot

14) Although there is no medicinal cure for CMT,  we can treat the symptoms of CMT with:

a. Exercise, physical and occupational therapy, healthy diet

b. Braces and other orthopedic devices

c. Surgery can help prevent or reverse foot and joint deformities

d. All the above

15) Since the launch of STAR in 2008, how much money has the CMTA spent on treatment-driven CMT research?

a. 1 million

b. 5 Million

c. 10 Million

d. 16 Million

Answers

  1. b
  2. c
  3. a
  4. d
  5. b
    • The ankle dorsiflexors, the muscles that lift up the foot and ankle, are frequently involved in foot drop. When the Tibialis Anterior muscle weakens, the foot begins to drop down. This is usually a gradual process, occurring over months or years.
  6. b
  7. a
  8. b
    • Charcot-Marie-Tooth (CMT), Multiple Sclerosis (MS) and Muscular Dystrophy (MD) are three completely separate and distinct diseases. Remember that our neuromuscular system really starts at the brain, which is the master computer, and sends signals to the motor (muscles) via the spinal cord (an intermediate connecting cable), which hooks up to the peripheral nerves (the connecting lines between brain and muscle).
    • Muscular Dystrophy is a disease 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, the main breathing muscle).
    • CMT is primarily a disease of the peripheral nerves (the connecting lines between brain and muscle). 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 shrink because they aren’t getting the proper signals, but the muscles themselves are not directly diseased per se.
    • Multiple Sclerosis is a disease of the brain and spinal cord. It can affect both movement and sensory perception and sometimes thinking processes.
  9. d
    • There is a 75% chance that they will have a child that is affected.  Broken down, there is a 50% chance that the child will get the duplication from one or the other parent, a 25% chance they will get it from both parents (i.e. for CMT1A they will then have 4 copies of the PMP22 gene), and a 25% chance they will not inherit CMT and have the normal copy number of PMP22.  We have seen a few cases of kids that have inherited 4 copies of the PMP22 gene and they seem to be more significantly affected than their parents, but we have not looked at this longitudinally because it is rare. (Answered by Shawna Feely, CGC)
  10. c
  11. a
    • CMT-DI takes its name from the nerve conduction velocity (NCV), which is considered intermediate. The nerve biopsies from patients with DI-CMT have shown both axonal degeneration as well as demyelination. Dominant mutations in the genes DNM2MPZ, and YARS are associated with DI-CMT types B, D, and C, respectively.

12. b

13. a

14. d

15. d

Give More Out Of Life!

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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.