CMT

My Uncle Chris is Phenomenal

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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

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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.

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

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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

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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!

Ulcers & CMT

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I have an ulcer on my foot that will not heal. Is this typical of CMT?

Dr. Joseph Gregory Stilwell, DPM writes:

Yes,ulcers can be quite common with CMT. Oftentimes because a bone is prominent, and taking excess pressure- irritation occurs.  Then, with decreased sensation and other changes in the skin along with possible diminished circulation, an ulcer can develop.  Sounds like you may need referral to a specialty wound care program (usually run by your local hospital).  Here, they can do blood work to assess for signs of infection and other markers that show up in blood screens.  

Have you had wound cultures, specialized diagnostic imaging (usually an MRI), or had a consult with a surgeon who could conceivably debride (the removal of damaged tissue or foreign objects) the wound and probably some of the underlying bone?  There are many specialized wound dressings and even a “wound vac” that helps to pull drainage from the wound so it can begin to dry up and heal.  

These types of ulcers can get out of control rather quickly and possibly result in hospitalization, need for IV antibiotics, and even radical surgery.  So, please be proactive about finding your local wound care specialists.

You can learn more about CMT specialist Dr. Stilwell here: ww.HozhoniBalanceRail.com 

CMT Awareness Month Quiz! New Questions – 2019

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

a. Inflammatory Nerve and Muscle Syndrome

b. Hereditary Motor and Sensory Neuropathy

c. Funky Foot Disorder

d. Chronic Tendinopathy with fatigue

2) How many different inheritance patterns does CMT have?

a. 1

b. 2

c. 3

d. Too many to count.

3) Can CMT skip generations?

a.Yes

b. No

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

a.Yes

b. No

5). Is CMT a type of Muscular Dystrophy?

a. Yes

b. No

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

a. Neuropathic or nerve pain

b. Muscle pain

c. Joint pain

d. All of the above.

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

a. CMT is an inherited disease.

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

c. CMT is caused by many different gene mutations.

d. CMT affects both men and women equally.

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

a. Yes

b. No

9). Is HNPP a type of CMT?

a. Yes

b. No

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

a. Physical and Occupational therapies

b. AFOs or leg braces

c. Orthopedic surgery

d. All of the above

ANSWERS

#1 – b

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

#2 – c : 3 

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

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

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

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

#3. No. 

CMT does not skip generations.

#4. Yes.

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

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

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

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

# 6. D – All the above. 

#7. C

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

#8. Yes. 

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

#9. Yes

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

#10. D. 

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

Questions? WWW.CMTAUSA.ORG

Pony Takes Stand to End CMT

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OUR STORY –

Yohan and I had so much fun trail riding when we were younger. Oh, the stories we could tell!! I’ll never forget the time I stepped in a bee’s nest and ran for my life with Yohan on my back! He held on to my mane and stayed on. Phew! Close call!

 

 

When my friend got a little older, he rode me less and less. I thought it was my fault. Did I eat too much? Was he embarrassed about my being  just a tad shorter than a real horse?  Was I too messy? One day, we had a heart-to-heart. He explaining that he had CMT. At first, I was excited – Country Music Television?  Yee-Haw! He’ls going to be famous – a  Country Music Star! Nashville anyone? I was dreaming of lights, camera, pampering! I might even be on TV!

 

My enthusiasm was short lived when he explained that CMT stands for Charcot-Marie-Tooth disease – a progressive nerve disease that affects his hands, feet, legs, spine and balance. He just could not ride me anymore, and we were both very sad. But, he did right by me, kept me in his family and today I have the best life ever at the Horse Park in Woodside.

 

Yohan sees me every time he’s home from school and I want to celebrate his kindness, understanding and compassion. His CMT makes his nerves deteriorate and his muscles weak. He looks so happy all the time, but I know that deep down, he’s worried about what the future will bring.

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

 

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

Your friend,

Athos

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

Athos and Yohan

HELIOS® Braces

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by Mitch Warner, CPO

The Helios® orthosis is a custom made energy storing carbon fiber AFO. The Helios® provides balance, stability, and a more natural gait pattern.  Utilizing triplanar control*, dynamic response*, and floor reaction*, these corrective forces stabilize the foot and ankle to give standing and walking stability that is necessary for normal walking that many people with CMT lack.

Utilizing the most cutting-edge materials for the Helios® orthosis, we can provide true energy return through dynamic response.  This energy return will help spring you forward, and help you walk with less fatigue, enabling you to live your best life.

Listen to Stacy’s experience:

Being a custom made orthosis, the Helios® is made to fit you properly, be strong enough for your lifestyle, and addresses your specific needs and concerns.  No two Helios® orthoses are alike.  There are different models and configurations of the Helios® orthosis depending on the needs of the patient.  The appointment is usually 5-days (Monday through Friday), and this includes evaluation, casting, diagnostic brace fitting, and final carbon brace fitting.  Our custom made diagnostic braces are actual permanent style AFOs that we use for diagnostic evaluation. You will finish your appointment with final adjustments and your new brace.  We verify that the brace fits you properly, you can use it properly, and that it is giving you the most progressive fit and function.

 

 

Triplanar Control
The Helios® Excel – Black
Helios E/I AFO

The Helios® orthosis, because it is custom made for your specific needs/combination of needs, is beneficial in helping a variety of problems such as;

  • Footdrop
  • Eversion/inversion
  • Pes cavus/pes planus
  • Hip-hiking
  • Knee hyperextension/quadriceps weakness
  • Strength loss
  • Balance instability
  • Fatigue

 

These problems can be caused by a variety of diagnoses;

  • Charcot-Marie-Tooth
  • Muscular Dystrophy
  • Multiple Sclerosis
  • Spinal Cord Injury
  • Stroke

 

The Helios® orthosis has a unique patent for balance control combined with energy return.  Our current Helios® models include the Helios® E/I, Helios GX®, and the Helios® KAFO.  We are the originators of the Double Helix™ AFO which uses anterior and posterior dynamic response struts.  A CMT Study with the Helios® has been published in the Journal of Gait & Posture.

To determine if the Helios® orthosis would help you, we ask you to send us video according to the instructions we can provide to you.  Once we view your video, we determine if the Helios® orthosis will help you and we provide you with a realistic expectation of what we can do for you.

  • Dynamic Response: Energy storing uprights in the Helios® that compress during patient loading and then performs like a spring with a dynamic response to propel the lower limb forward.
  • *Floor Reaction: Helps control frontal plane stability while the foot is on the floor, by transmitting stabilizing forces of the orthoses below the knee.  This provides balance in conjunction with the Helios® footplate that is engineered for balance control.
  • *Triplanar Control: The patient’s foot and ankle have corrective forces applied in all 3 planes of movement.  Dropfoot, foot deformity, and joint collapse, create deviations in all 3 planes of movement that need to be corrected and controlled, to prevent further deformity and loss of balance and function.
  1. Frontal Plane
  2. Sagittal Plane
  3. Transverse Plane

frontal (2)

These 3 planes of movement, Triplanar, occur in the Ankle Joint, Subtalar Joint, and Midtarsal Joint.

The cost for a pair of Helios® braces is right around 13,800, but is dependent on the level of correction needed, and what type of device is being custom fabricated.

We do not accept insurance, but will bill your insurance for you after your visit is completed.

Give us a call or email us to see if the Helios® orthosis can help you.

 

Ortho Rehab Designs

2578 Belcastro St., Suite 101

Las Vegas, NV 89117

Toll free: 888-696-9909

Phone: 702-388-9909

Email: info@heliosbracing.com

Website: HeliosBracing.com

 

 

 

 

Therm-a-Rest Founder Offers Unforgettable Gifts to CMT Community

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James Lea

It was in the winter of 2012 that we met the elderly man sitting in a bulky hospital-style wheelchair, covered from shoulder to toe with a plush blanket. Jeana Sweeney and I had flown to Seattle, WA to speak at a local CMTA branch meeting. We had just begun the presentation when a bright and lively young woman entered, pushing an old man to the front of a fully-packed room.

He put “Jim” on his nametag. Jim listened intently to our talk, not missing a beat. He even asked a few questions with his quivering, shallow voice, which betrayed an inability to completely catch his breath while speaking. He must have been around 90 years old, 100 even! And, he was obviously affected by decades of living in a body with CMT, but he forged onward.

At the end of the meeting, once  Jeana had finished her pep talk about CMT awareness and fundraising, a few people hung out to ask questions, socialize and munch on home-baked sweets!  While I was speaking to the branch leader, stuffing brownies into my mouth, I spied Jeana who was making a most definite beeline for Jim and his caretaker. Hmmmmmmmmmm…

45 minutes had passed and I was more than ready to hit the road and make our way back to the airport. Most people had left, but Jeana was still chatting away with Jim and his caretaker. As I was packing up my stuff, I overheard Jeana ask, “Have you ever thought about getting involved or giving to the CMTA?”

“OMG, really?” I thought as I struggled with the zipper on the projector pouch. “Really? Tell me she didn’t. Did she just ask that elderly man we do not even know for money? Seriously, we have to have some boundaries here. She’s great at fundraising and all, but taking advantage of the elderly is not right!” I made a mental note to talk to her as soon as we were out of earshot.

On the way back to the airport, I expressed my concern. Jeana just started laughing. “You only heard like one tiny part of our conversation, Elizabeth. And I was not taking advantage of anyone! I can’t believe you would even think that of me!” she added with a serious scowl.

Long story short, Jim or James Lea is known for his invention of the Therm-a-Rest mattress. If you do any outdoor activity or camping, you’ve probably heard of Therm-a-Rest! Throughout the conversation, he willingly mentioned his philanthropic activities and admitted that he wanted to help people with CMT. Having been diagnosed with CMT early on in his life, he wanted to give back to a cause close to his heart. But first, he had to do some homework.

thermarest

He asked Jeana if she would be willing to go back to Seattle and spend a couple of days with him to talk about the CMTA, its mission, and financials. More than anything, he wanted to get to know Jeana better, to understand her values, her work, and her purpose.

Jeana ended up spending 3 full days with James, from 9am-7pm  with James, who was still very busy with his various business ventures. Later, I called James and interviewed him. Here is the article I wrote for the CMTA Report:

James Lea is one of the original founders of Cascade Designs and the developer of Therm-a-Rest, the world’s first self-inflating camping mattress. Born in Tacoma, Washington, on October 22, 1920, this spritely nonagenarian shows few signs of slowing down any time soon. When asked what he does in his free time, Jim was quick to respond, “What free time? I am very busy!” When he is not working in his office, he tries to remain as active as possible. He enjoys being on the lake and working on boats, always trying to improve their function. Jim also put a lot of emphasis on taking care of himself by eating right and maintaining good lifestyle habits. Once in a while, he might even play his ukulele, which is increasingly difficult due to his CMT. Yes, Jim Lea has CMT, as did his siblings, father, and grandfather, who got around using two canes.

Jim was in his thirties when he first noticed signs of the disorder, “When I walked, it felt as though my socks were bunching up under my feet.” It was not until he was in his late 50s that neurologists from the University of Washington officially diagnosed him with Charcot-Marie-Tooth. As a successful engineer and businessman, Jim has managed his CMT over the years. “Truthfully, I just try to ignore it, work around my difficulties, go ahead with my day and do the best that I can, every day.”

 

Jim Lea “poses” for a picture. Later he admitted, “This picture was a hoax! I never rock climber in my life. Look at the shoes I am wearing!”

 

 

 

 

 

Forever inquisitive, Jim has also done quite a bit of research on CMT to better understand treatments, therapies, and current CMT research. Choosing to accept his CMT as an undeniable presence in his life, Jim never shied away from telling others about the heritable disorder passed on from generation to generation in his family. In fact, just last year at his 90th birthday party, he took it upon himself to spread awareness of CMT by passing out brochures and educating his guests about the disorder. How I admire James Lea and his positive, upbeat attitude! Despite the fact that CMT is affecting his breathing, his hands, his feet, and body, never once did I hear him complain or lament about his struggles. Moreover, encouraged by recent progress in the CMTA’s STAR initiative, he does hope that treatments are forthcoming for our younger generations.

His message to younger people with the disorder is to “stay strong, accept the condition, and find alternative ways to achieve your goals and dreams.” Not missing a beat, Jim also hopes that scientists will hurry up and find a way to create … another Jim Lea, at 65, who could do some of the many things he still wants to do in this lifetime! At 91 years old, Jim Lea is one of the most positive and upbeat souls I have ever had the opportunity to meet. His never-give-up attitude, inquisitive mind, and perseverance are most admirable, making him the legend and role-model he is today.

Jeana passed all his tests with flying colors, as did the CMTA.  Jeana and Jim created a true friendship which grew and blossomed right up until the day he passed on December 20, 2016. When talking on the phone was no longer possible due to hearing loss, Jeana sent him cards and letters, always making sure to include one of her daughter Rylee’s drawings.

Jeana Sweeney and her beloved Rylee.

James Lea gave a large part of his estate to the CMTA after his passing as he not only believed in the work of the CMTA but also in one of the Association’s most well-known, hardworking and genuinely caring CMT advocates – Jeana Sweeney. Jim will remain in our hearts forever, and his investments into the CMTA will help many for a very, very long time.

 

12 Compelling Reasons I’m Talking About CMT This September

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Top Twelve Reasons I’m Talking About CMT during Awareness Month

12) Confused Faces-When I tell people my son has Charcot-Marie-Tooth disease, I get looks like this:

Let’s stop the nonsense. I’m looking for reactions of recognition, like Dr. House’s below:

11) Dentures? Besides having had too many cavities, crowns, and pulled teeth, there is absolutely nothing wrong with my choppers. Yohan has beautiful teeth and healthy gums, too.  Dr. Howard Henry Tooth discovered this progressive neuromuscular disease at just about the same time as the French neurologists,  Dr.  Charcot, and his disciple,  Pierre Marie. So now we are stuck with Charcot-Marie-Tooth or CMT.

10. Eponyms. Jean-Marie Charcot is known as the father of modern neurology. And, he made sure no one would ever forget his legacy. Why? He was generous enough to share his last name with a host of other diseases he unraveled:

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Here is the short list of the master’s eponyms:

Sounds a bit narcissistic, don’t you think?

9) But, It Could Be SO Much Worse! 

I stop my complaining when I remember that the name COULD have been definitely much worse.  Why? One of my good doctor friends, told me a story he believed to be true: Dr. Nikolaus Friedreich, as in the neuromuscular disease Friedrich’s Ataxia,  also wanted credit for the discovery of CMT, but the message of his discovery did not reach the authorities in time….something to do with an unannounced closing of government offices. So the Grand Poo-Bahs did not receive the important Carrion Pigeon or telegraph messages. Bummer for Nikolaus and hurrah for people with CMT everywhere! We don’t have Charcot-Marie-Tooth Freiderich disease (CMTF), but rather just CMT.

Thank God for small miracles.

8. Let everyone know that CMT does not stand for:

Country Music Television

Childen’s Musical Theater

Certified Massage Therapist

7.  Pronunciation: Give others ways to remember the name, pronounce like:

\(ˌ)shär-ˌkō-mə-ˌrē-ˈtüth-\

or

or

6. . Shark’s Teeth Convention? Once, I wanted to book a large room for a CMTA conference. The short discussion went something like this: “Hi. I need to book a meeting room for the Charcot-Marie-Tooth Association.”. “Okay, let me see. What is the date of your Shark Tooth meeting?

Carcharias_taurus_teeth (1)

Enough said. Ugh.

5. Rent a Costume or Let Your Pets Do The Dirty Work!

If you feel awkward about starting the CMT discussion, you and your animals can dress up like a shark – it’s fun and you are bound to get s few questions! Or, just paint your horse with non-toxic paint. People will ask…..trust me.

apple

4. Braces – Tell people you wear braces and when they look at your mouth, lift up your pant leg and flash them with your one-of-a-kind ankle-foot orthoses (AFOs).

3. Genius!

Wow your friends with your knowledge of medical jargon. Use CMT-related words like:

peripheral neuropathy, autosomal dominant, hereditary motor and sensory neuropathy, dorsiflexion, plantar flexion, pes cavus, myelin, axons, exome sequencing, orthosis, etc……

They’ll be stunned by your brilliance.

2. Participate! The CMTA makes it fun to celebrate and talk about CMT during CMT awareness month. Check out: www.cmtausa.org

Or just send around the How Much Do You Know About CMT Quiz? 

Click here to take the quiz: https://bestfoot4wardblog.com/2018/09/02/its-cmt-awareness-month-how-much-do-you-know-about-cmt/

Be the expert on questions they can’t answer. Teach a friend and make good use of your never-ending CMT knowledge!

1) Acceptance– Whatever you do, talk about your CMT. Share your experiences with people who might not know about CMT. Most people want to know and CMT Awareness Month provides a platform to share resources and stories to shed light on this progressive neuromuscular disease, its symptoms, and its effects.   Knowledge is power. Go forth and tell someone!

Break the Silence: CMT Stories and Events

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ARE YOU READY?

 

 

 

 

 

The Cycle (and Walk!) 4 CMT event at the Old Lantern in Charlotte, VT on Sunday, August 26 will be upon us before you know it! Please act now to reserve your spot to cycle, walk and/or attend the unforgettable after-party!

Whether you are attending the event in person or participating virtually, here are your top 4 action items for you to complete right now:

The Cycle (and Walk or Roll!) 4 CMT event is so much more than a bike ride or walk around Charlotte, VT. It is a way to give hope to families and their children all around the world for a medicinal treatment to stop the progression of CMT.

I asked our friend Riley Ashe from Vermont, who never misses the event, to talk about what this event means to him. Here is what he said (get Kleenex out before pressing play):

 

 

 

My brother George’s heartfelt thoughts (grab yet another kleenex):

 

 

After-Party

Event After-Party

Rumor has it that we throw the best after-party of any non-profit event for miles around! Riders, walkers and party attendees are going to have a blast again this year.

After the morning activities, plan to relax in the beautiful setting at the Old Lantern in Charlotte, VT.

Quench your thirst with VT brewed beer, enjoy delicious food, including appetizers and a fully catered menu and bid on epic silent auction items provided by our supporters.

Rock out to the lively tunes of our favorite band, Leno, Cheney and Young, mingle with family, friends and hear about exciting CMT research updates from our internationally acclaimed CMT experts, Drs. Michael Shy and Steven Scherer.

CMT Experts – Drs. Scherer and Shy

Yohan and his Grandmother, Bev

The Love of an uncle for his nephew. Family is everything.

 

Our Fabulous Band

Walk 4 CMT!!

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

If you cannot make it this year – you can still participate by doing a VIRTUAL CYCLE or WALK or ROLL. It’s easy! Register: http://www.cycle4cmt.com. Here is some of the cool swag you’ll receive after you’ve reached your fundraising goal.

If you do a virtual event, send me pictures of your adventure! I need to brag about you! xoxo

 

 

Help us break the silence…get the word out about CMT!

CMT: So Much More Than Hands and Feet!

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Yohan gets Rylee’s mind off her knee pain.

 

“What’s up with the knee brace?” I asked 12-year-old Rylee, who was visiting from Pennsylvania for a couple of days. Head down, in a whisper, she told me, “My knee keeps popping out of joint. It hurts really bad when that happens. ” Just the thought of having my patella on the side of my leg for any extended amount of time makes me cringe. Yuk!

 

I will not stand for this. Will you?

Helping Yo with his drops!

“Ugh. Can you put these drops in my eyes?” Yohan groaned. He had just had eye surgery and needed drops every hour, on the hour. I almost said, “Buddy, you can do that yourself.”  And then I remembered his tremor and weak grip strength.  “I tried,” he grimaced, with water streaming off his cheeks, “but I missed!”

I will not stand for this. Will you?

Bethany and Elizabeth

I dread the thought of Bethany coming down with a cold because coughing takes energy and congestion robs her of the precious air needed to breathe effectively. Did you know that CMT can affect the nerves leading to the respiratory muscles? For some with CMT, the thoughtless act of breathing freely becomes a forced, challenging and anxiety-provoking undertaking, which may necessitate frequent visits to the ER. Not fun. Not fun at all.

I will not stand for this. Will you?

So, you see, CMT is much more than a funky way of walking, foot drop, high arches, and leg braces. CMT may also causes cramps, falls, balance difficulties, cold extremities, nerve, muscle and joint pain, curled hands and toes, altered reflexes, extreme fatigue, sleep apnea, hearing loss, etc.  In short, CMT is a bitch!

I will not stand for this. Will you?

The most amazing thing about CMT is that we can fight it. Unlike many diseases, the genes that cause many types of CMT are known. The CMTA’s scientists are working tirelessly to stop or slow down the progression of CMT, and they are making headway. We’ve accomplished so much since 2008:

 

Highlights

• Clinical planning has started. Working together with the NIH and the MDA, we are developing our clinical infrastructure: new centers, more clinicians, patient information and history over time.
• We are developing ways to measure disease progression in people with CMT.
• We are starting to use cellular and animal models of CMT to help pharmaceutical companies test their drugs quickly.
• We are partnering with pharmaceutical companies and labs to apply breakthrough genetic therapies (like gene therapy, RNAi, CRISPR) to CMT.
• We will continue to expand our program to cover more forms of CMT.

Join me to raise the funds to bring a drug to market and rid the world of CMT. Big goal? Well, maybe, but why not dream big? We’ve got to start somewhere.

WE will not stand for this.

Imagine what we can do TOGETHER! Did you know funds are what stand in the way between us and a treatment for CMT? Not scientific understanding. Not resources. Not clinics. Not patients. MONEY. I certainly don’t have all the money needed to bring a drug to market, but with your help and the help of others, the money can be raised to support scientific research. It’s doable.

Chris Ouellette-The organizer of the Cycle 4 CMT

Want to help? Our family has put all its efforts into Vermont’s Cycle (And Walk!) 4 CMT event and thanks to friends and family like you, we’ve raised close to $650,000 over the past 4 years. That’s not chump change, friends.

We are now preparing for the 5th Annual Cycle (and Walk!) 4 CMT event, to be held in Charlotte, VT on Sunday, August 26. Every dollar counts. Any donation is valued. Spread the word.

To join our efforts to build a better tomorrow, check out our website: www.cycle4cmt.com and donate a little or a lot.

 

Here is how to start changing lives:

1) Register for the Cycle (and Walk!) event and/or,
2) Fundraise! Tell others why this cause is important to you and/or,
3) Spread the word and register a friend and/or
4) Sponsor a rider, a walker or the event itself and/or
5) Sign up for the after-party.

Thank you for offering a promising future to Yohan, Rylee, Bethany and the 2.8 million + people around the world with this debilitating disease.

Never Give up or Give In. Just GIVE!