Question: I have CMT and had foot reconstruction surgery last month. While in the cast and recovering I have been even more aware than ever of the muscle deficit in my other leg. That leg has had several knee surgeries through the past 20 years. Each time I had knee surgery, my quadriceps muscles have “shut down” and have needed electrical stimulation therapy to reactivate and strengthen. However, I have never been able to get them up to a normal strength again. My leg circumference is noticeably smaller and it makes things like stairs and rising from a chair challenging when I can’t use my other leg. My doctors and physical therapists have always pushed me to strengthen these muscles and build them up, but it just doesn’t seem to work. My question is–could this be part of my CMT? It’s upper leg, so I didn’t know if that “counted.” But I’ve worked so hard to strengthen and I just never get there.
CMTA Advisory Board member, Dr. Glenn Pfeffer, expert orthopedic surgeon at Cedars-Sinai writes:
Unfortunately, the quadriceps muscle can be affected by CMT. It sounds like you have worked hard at PT, but I would make sure to continue a daily home strengthening program. Make sure to stretch the knee straight each day, to make sure you don’t get a flexion contracture.
Getting up from a chair can be a challenge, and there are special pillows you can sit on that can help you spring up. A higher chair can also make it easier. Your physical therapist will know about these issues.
Different types of walking shoes with slightly different heel heights (a quarter of an inch one way or the other) can make all of the difference when walking. There is no specific brand I recommend. Try several, once you recover from your foot surgery.
Glenn Pfeffer, MD, is Director of the Foot and Ankle Center at Cedars-Sinai Medical Center. He is also a Co-Director of the Hereditary Neuropathy Program and Co-Director of the Cedars-Sinai/USC Glorya Kaufman Dance Medicine Center. Dr.Pfeffer is an orthopedic surgeon specializing in CMT. Follow him on Instagram: charcotmarietoothsurgery
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.
Again, any amount is welcome and since I turned 57, I asked for donations that have to do with 5 and 7! $5, $7, $57, 5X7 – $35, 5+7 – $12…….you get the gist!
As promised, since I reached my initial goal of 1,570 (I turned 57 on December 18) I promised dirt on our beloved Jeana Sweeney and I will not let you down!! Ready? Set? Go!
As promised, since I reached my initial goal of 1,570 (I turned 57 on December 18) I promised dirt on our beloved Jeana Sweeney and I will not let you down!! Ready? Set? Go!
Likes to play mean April Fools jokes
Her husband, Chris, has a twin.
She dressed up in a sexy turtle costume for Cooterfest in Florida
Has been known to eat M & M’s before bed.
Drinks coffee 24/7.
Likes fishing.
Loves scary movies.
When her kids have any problems or injuries, she says, Take a sip of water, babe.” And it works! The tears dry up, the mood lifts and the day is bright again!
She’s math-challenged, like me.
Jeana hates my cat, Tortellini.
My cat Tortellini told me, “The feeling is mutual.”
She hikes in flip flops.
She will not wear athletic shoes.
She has street smarts.
She uses the word, SLIPPY
Has a BIG face.
Her pinky toes are extra tiny and boneless.
Her biceps are bigger than my thigh!
She loves to throw blue chalk in her campers’ faces.
She belongs to a stock club.
She’s massively competitive.
She dances in public.
She drives like a Nascar driver.
She’s a wonderful host – the hostest with the mostest.
She scratches her ears a lot.
Frugality is her middle name
She rarely eats junk food.
She sings at the top of her lungs, even if she does not know the words.
She always dances like no one is watching, even if people are watching.
She was featured in and on the cover of Johnstown Magazine, Most Beautiful People issue.
Favorite food? Ketchup – with a little bit of hamburger.
Had Lasik eye surgery.
When Jeana gives a presentation, Staples runs out of note cards.
One year, she went to a CMTA event in Italy, right in the middle of CMT awareness month! Guess who covered? Me, of course!
She loves the website: buckle.com
She created and published the Archie the Turtle Cookbook in the space of about 2 months. Impressive work.
She rarely follows through on bets she loses. Don’t make a bet with her!!
She dressed up as a foot and tried to get on TV in New York City.
Jeana whitens her teeth.
After saying good-night to her girls, she always says,”I’ll see your tiny hinney in the morning!”
She secretly likes cream soda.
After every phone call with her girls, she always says, “I love you.”
She rarely watches television.
She ended up in the ER one week after a spider bit her on her side. The swelling and pain were tremendous. She survived…barely.
She thinks she was involved with CMTA before me, but she wasn’t. Hogwash.
Campers from Camp Footprint sent her 20+ potatoes through the postal service!
She met Ricky Martin, in an elevator in 2010!
Many people try to claim responsibility for discovering Jeana. I believe the winner is J.D Griffith from Johnstown, PA.
She has a BIG face.
She leaves her clothes in her suitcase when she travels.
She spent her only free day in Sedona, Arizona looking for a vortex. Never found one. 😦
She thinks the world is flat (Just kidding).
She’s tough. She hauled a deer off the road after she and the deer collided. And she had kids in the car!
Before CMTA, she was a rising star at her local Credit Union.
Her husband calls her, “Weenie” (pet nickname).
She met Catwoman (Julie Newmar) for couch talk and another time for lunch. She loved Jeana’s stylin’ pants!
She’s a hard worker, embracing CMT work with her heart and soul. Who else would listen to me when I told her she absolutely needed to be on an important conference call? She said, “But I’m having surgery that morning and will be out of it because of the pain meds.” I said, “ Just put the phone up to your ear and listen. Don’t talk.” Then she told me what I could do with my phone and where to put it! Now that’s the Jeana we all know and love!
It’s really hard to describe what CMT is to people. After about 2 minutes of trying to explain peripheral nerves, neuromuscular disease, genetic patterns and why your talking about a Tooth, eyes glaze over, yawns escape and the subject changes to other topics like….the weather.
Maybe a picture explains the effects of having CMT better than big, long scientific words. I think in pictures, so I thought I’d give it a try. Despite my inability to create stunning graphic images, I’m showing you what I came up with. If you find this graphic to be useful, please feel free to share!! No authorization needed!
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.
There is always country music tunes playing in the background at my mom’s house in Vermont. This particular rainy summer day, we spent the afternoon dancing barefoot to Johnny Cash melodies playing on the TV in the living room. Resting our tootsies for a brief moment, my mom casually asked, “Why’s Yohan always on his tippy toes?” She continued, “I always had such a problem getting you shoes because of your high instep, Elizabeth, but this is a little different. His toes are curled and his arches are so high.” I’d never noticed anything wrong with my son’s physical traits; in my eyes, every part of him was perfection. I gave a slight eye roll and responded defensively, “His feet are fine. Lots of kids walk on their toes. I’m sure it he’ll grow out of it.”
But he didn’t. His feet just got funkier as time passed.
Little by little, the subtle signs became more pronounced: tripping, toe walking, tight Achilles tendons, fatigue, hand weakness, loss of sensation and balance problems. One day, his PT tapped his knees with a hammer over and over again. His legs did not jerk. In fact, there was no movement whatsoever, meaning he had no deep knee reflexes. She encouraged me to bring him to a pediatric neurologist for further evaluation.
The neurologist mumbled something about mild Cerebral Palsy (CP), a possible genetic disease and sent us on our way with prescriptions for an MRI of the brain and blood tests. We were to make a follow up appointment in 6-8 weeks.
8 long weeks and 1,000 Google searches later, Yohan was officially diagnosed with CMT or Charcot-Marie-Tooth (shark-o-marie-tooth) disease, named after the 3 doctors who first discovered it. His condition had nothing at all to do with sharks, teeth or Country Music Television. CMT no longer held the innocent and careless connotation it once had. From that point on, CMT became disease to stop, treat, cure before it could destabilize Yohan’s life further.
CMT is a heritable neurological disease affecting the peripheral nerves, the long nerves extending from the spinal cord to the hands and feet. Another name for the disease is hereditary sensory and motor neuropathy, meaning it runs in families and affects the sensory and motor nerves. As the disease progresses, the nerves slowly lose their ability to transmit messages to the extremities, causing the muscles of the arms and legs to atrophy. For a person to be affected with CMT, that person must have one (or two, depending on the type of CMT) disease-causing mutation in one of the genes that causes CMT.
Both my husband and I were tested for CMT and our results were, without a doubt, negative. Neither of us had CMT and CMT does not skip generations. So, how was this possible? We quickly learned that CMT can also result from a new or spontaneous mutation, otherwise known as “de novo.”
Common symptoms of CMT include:
High arches, curled toes, inability to lift the foot at the ankle, numbness or burning of the feet and/or hands, muscle wasting, poor balance, loss of hand dexterity and debilitating fatigue.
Additional symptoms may include chronic pain, sleep apnea, curvature of the spine, vocal cord paralysis, hearing loss, breathing and/or swallowing difficulties.
CMT is currently incurable, but not usually fatal, though it can be severely disabling. And, although there is no drug treatment for CMT, physical and occupational therapy, moderate activity, leg braces and even orthopedic surgery can be helpful.
Thankfully, I found the Charcot-Marie-Tooth Association (CMTA) soon after my son’s CMT diagnosis 19 years ago. The CMTA not only provides resources for people with CMT, but is aggressively pursuing treatments and cures for all types of CMT (over 100 genes have been identified as causing CMT) with its treatment-driven research initiative, STAR (Strategy to Accelerate Research). The ultimate goal of STAR is to slow, stop, reverse the progression of CMT. With the advent of gene therapies, a cure for CMT is within reach and closer than ever before.
Yohan is now 26 and has just graduated with his Masters in Organizational Psychology. With chronic fatigue, pain, scoliosis and extensive foot surgeries, Yohan has a positive outlook and a great sense of humor. His involvement with the CMTA (helping at Patient/Family conferences, answering CMTA member questions, speaking at national branch meetings and leading youth groups) has been most helpful in embracing the disease, creating resilience and reinforcing strength of character.
Cycle 4 CMT event – August, 2019
He knows there are a lot of very smart people working hard to bring treatments to the forefront and armed with this knowledge, he lives each day to the fullest, focused on the here and now.
This is a family disease and as such, many generations of families across the US are involved with some aspect of the organization –raising critical dollars for research, acting as reliable and knowledgeable resources for the community and helping others come to terms with the disease.
Together, we are out to change the world, one footstep at a time – http://www.cmtausa.org
Won’t you join us? Never is too late to get involved!
What do Sharks, Teeth and Country Music Have in Common?
By Elizabeth Ouellette
My mom was the first to point it out. “What’s going on with his feet?” She asked one day when my son, Yohan, was 6. “I always had such a problem getting you shoes because of your high instep, but Yohan’s toes are curled, and he walks on his tippy toes.” I’d never noticed anything wrong with my son’s physical appearance, and her comment took me off guard. I gave a slight eye roll and responded defensively, “His feet are fine. Lots of kids walk on their tippy toes. I’m sure it he’ll grow out of it.”
But he didn’t.
Little by little, the subtle signs became more pronounced: tripping, toe walking, tight Achilles tendons, fatigue, hand weakness, loss of sensation and balance problems. One day, out of curiosity, his PT tapped his knees again and again and again. No deep knee reflexes were found. She encouraged me to bring him to a pediatric neurologist for further evaluation.
The neurologist mumbled something about mild Cerebral Palsy (CP), a possible genetic disease and sent us on our way with prescriptions for an MRI of the brain and blood tests. We were to make a follow up appointment in 6-8 weeks.
8 long weeks and 1,000 Google searches later, Yohan was officially diagnosed with CMT or Charcot-Marie-Tooth (shark-o-marie-tooth) disease, named after the 3 doctors who first discovered it. His condition had nothing at all to do with sharks, teeth or Country Music Television.
CMT is a heritable neurological disease affecting the peripheral nerves, the long nerves extending from the spinal cord to the hands and feet. Another name for the disease is hereditary sensory and motor neuropathy, meaning it runs in families and affects the sensory and motor nerves. As the disease progresses, the nerves slowly lose their ability to transmit messages to the extremities, causing the muscles of the arms and legs to atrophy. For a person to be affected with CMT, that person must have one (or two, depending on the type of CMT) disease-causing mutation in one of the genes that causes CMT.
Both my husband and I were tested for CMT and our results were, without a doubt, negative. Neither of us had CMT and CMT does not skip generations. So, how was this possible? We quickly learned that CMT can also result from a new or spontaneous mutation, otherwise known as “de novo.”
Common symptoms of CMT include:
High arches, curled toes, inability to lift the foot at the ankle, numbness or burning of the feet and/or hands, muscle wasting, poor balance, loss of hand dexterity and debilitating fatigue.
Additional symptoms may include chronic pain, sleep apnea, curvature of the spine, vocal cord paralysis, hearing loss, breathing and/or swallowing difficulties.
CMT is currently incurable, but not usually fatal, though it can be severely disabling. And, although there is no drug treatment for CMT, physical and occupational therapy, moderate activity, leg braces and even orthopedic surgery can be helpful.
Thankfully, I found the Charcot-Marie-Tooth Association (CMTA) soon after my son’s CMT diagnosis 19 years ago. The CMTA not only provides resources for people with CMT, but is aggressively pursuing treatments and cures for all types of CMT (over 100 genes have been identified as causing CMT) with its treatment-driven research initiative, STAR (Strategy to Accelerate Research). The ultimate goal of STAR is to slow, stop, reverse the progression of CMT. With the advent of gene therapies, a cure for CMT is within reach and closer than ever before.
Yohan is now 26 and has just graduated with his Masters in Organizational Psychology. With chronic fatigue, pain, scoliosis and extensive foot surgeries, Yohan has a positive outlook and a great sense of humor. His involvement with the CMTA (helping at Patient/Family conferences, answering CMTA member questions, speaking at national branch meetings and leading youth groups) has been most helpful in embracing the disease, creating resilience and reinforcing strength of character.
He knows there are a lot of very smart people working hard to bring treatments to the forefront and armed with this knowledge, he lives each day to the fullest, focused on the here and now.
This is a family disease and as such, many generations of families across the US are involved with some aspect of the organization –raising critical dollars for research, acting as reliable and knowledgeable resources for the community and helping others come to terms with the disease.
Together, we are out to change the world, one footstep at a time – http://www.cmtausa.org
FRANÇOIS CÔTÉ Co-Inventor & Left Foot Drop Patient
STÉPHANE SAVARD Co-Inventor
In 2001, François Côté, an avid and life-long athlete had a serious snowmobile accident which changed the course of his existence. Breaking both of his legs and knees, he suffered permanent damage in the form of left-sided “foot drop” or the inability to lift the front part of the foot upwards.
This condition causes the individual to drag the toes and front of the foot while walking. To compensate for this dragging, the person will bend the knee to lift the foot higher than in a normal stride (high steppage gait). Walking then requires a lot of effort and concentration and consequently becomes, over time, uncomfortable and exhausting, generating pain in the pelvis and back.
Drawing on his mechanical engineering background, François was determined to find a way to remain active and mobile. So, he hunkered down in his garage and made many prototypes (28 to be exact) before coming up with the current Turbomed design.
With the help of orthotist, Stéphane Savard, the Turbomed was perfected and put on the market in 2015.
Below, you will see how this uniquely external brace works. Made from a highly durable thermoplastic, this AFO (ankle-foot orthosis) attaches to the outside of a patient’s footwear.
The unique design of the FS3000 brace acts as an exoskeleton to the impaired limb, helping to improve the patient’s function without discomfort or rubbing. The FS3000 brace does not prevent ankle plantar flexion or limit dorsiflexion.
This makes it easier for patients to walk and run on slopes, stairs, and uneven surfaces.
This brace is interchangeable and can be used on a variety of different shoes.
Many people with CMT have found this brace to be life-changing. For example, James Cuizon. world-class physically challenged triathlete has CMT. Before he got his TurboMed braces, he was breaking a pair of carbon fiber AFOs about every six months. He is now a TurboMed-sponsored athlete and says the braces, which he calls the best he has ever used, appear to be virtually indestructible. The company offers a two-year warranty and a 100 percent refund if returned within two months (www.turbomedorthotics.com).
James Cuizon
When I last spoke with Stéphane about the Turbomeds a couple of months ago (great guy, by the way) , he told me that TurboMed’s Facebook Page was started by TurboMed wearers, called TurboMeders. Turbomed Foot Drop Club can be found here: https://www.facebook.com/groups/TurbomedFootDropClub/
Lastly, a TurboMed brace is about $900. Some insurances companies are covering them and according to TurboMed reps, the price is the same or similar to any carbon fiber AFO…and probably half the price of a custom-made plastic or carbon fiber AFO.
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.
My birthday is on March 9. My buddy, Yohan and I are turning 26 years old. Besides a stiff leg and a couple of pigeon fever bumps on my chest, I’m doing pretty well for an old guy. Yohan took really good care of me for a very long time. His CMT got in the way of his riding, but we are still best of friends. Now, Yohan’s mom rides me once in a while and she and her friends pamper and play with me. Life could not be better!
Yohan on Athos – Gilles on Chyna
Over the years, I’ve learned a lot from my human and equine counterparts who have attempted to shape my behavior and teach me proper manners. Here are a few takeaways tidbits I hope you find useful:
Maturity is overrated! Play, have fun and don’t shy away from a little dirt. Messiness has its perks, people. Since it rains so little in California, I love rolling in puddles on the freshly rain-soaked ground. Who doesn’t like a mud bath? Lounging on my back feels soooooo good, especially since I don’t have the means to get a professional back massage. What feels better than a good roll in the mud (and so much better than a roll in the hay-hahaha)?
Most humans just look at me and shake their heads. They might think “Athos should have been born a pig!” Say what they may, lying on my back moving to and fro takes the “itchies” away and fends off those pesky flies.
Better yet, when Elizabeth sees me in such a sad state (she says sad but mud makes me happy!) I get another rub down as she brushes my coat, untangles the knots in my mane and removes the stubborn cakes of mud stuck to my tail. Once she leaves, it takes me about 5 minutes to get all dirty again. Live and let live! Life is too short to worry about a few stains.
Today’s a camouflage day!
The Carrot is Mightier than the Stick! Over the years, I’ve had a lot of owners and a lot of riders, all with new and innovative ways to make me “behave”. Looking back, I must tell you that positive reinforcement is much more powerful than punishment, which fills me with fear and uncertainty. In all honesty, I live for praise (and treats) and a soft pat on my neck (and a few more treats). In fact, my favorite lessons include a clicker, praise and ….you got it – treats. I’ll do almost ANYTHING for a carrot (low-sugar snacks work just as well). If you’re around my forever home at the Horse Park in Woodside, bring a couple of carrots! I’ll show you all my silly stunts….you don’t even have to ask!
Everyone is on Some Sort of Spectrum – I never made it to horse size. I fall a wee bit short, and everybody points it out. Whatever.
I look like I’m a big dog here. I am a HORSE!!
I’m vertically challenged (short), horizontally challenged (on the heavy side, especially after the spring grasses), and move with a “gimp” (a word used by a vet to describe my walk, which I find horribly offensive) due to a past injury. I’ve learned to love myself deeply despite my apparent “flaws”. In fact, the more I love myself, the more others embrace me.
Children are my favorite riders, especially as I get a little older. They are light, trusting and gracious. When kids are around, I’m groomed, spoiled, led around an arena 2-3 times and everyone’s happy- no long trail rides or boring arena lessons. They love me unconditionally, cellulite and all!
Respect is Earned – In the horse world, there are tons of complicated hierarchy rules. The bottom line is that I have little clout, so I have figured out how to survive by being kind to all creatures big and small. Another technique is to find intimidating friends.
Me and my new friend, Goliath!
In the end, if other horses do not like me, that’s their problem. I just stay away – their loss.
Recently, I had to be isolated in a stall for a ridiculous amount of time. I was so lonely. When I went back to my “family,” my rank and mere presence had to be renegotiated. After being bossed around for a day, I decided to put an end to the nonsense. Stomping my hooves, standing my ground and vocalizing my frustration were the only way I got everyone to respect me. So, only put up with so much before setting boundaries! Everything is hunky-dory now.
Stuck in a stall – UGH
Knowledge is Power – I am a flight animal by nature, so I am exceptionally keyed into my herd’s anxiety and the fear people carry in their hearts and soul. I’ve been told that many fancy pancy horses jump obstacles in the field, only to run like the wind to leap over another jump as fast as “horsely” possible.
Does this look like fun? NOT!
Whoever invented that stupid sport? Personally, I’m baffled at why any horse would want to expend the energy to compete anywhere, anytime…….period! I bet they don’t even get a treat after they jump. Geez. Way too stressful and exhausting, in my humble opinion.
So if I’m on the cross country course and a seriously focused horse and rider gallop on by in the opposite direction, you can bet your bottom dollar that I’m following the fleeing horse. I’m not going to be the idiot who gets eaten by real or invisible monsters – no, not me! I may be short and chubby, but I’m no dummy!
Ready to Run!
But, the best rides are relaxing and scare-free. On weekends, I take walks with my pasture friends, Bailey, Szcarlet and my sister, Chyna. I love those rides, even though, Szcarlet has made it perfectly clear that she doesn’t care for me all that much. Girls are a mystery to me.
Here’s a goofy picture of Szcarlet! Don’t tell her I went public with this one…..LOL!
I must say that she is truly beautiful AND she has papers, a lineage, a noble family – the works. But, if I so much as look in her direction, with even the briefest of sideways glances, she chases me away. In fact, she’s always been pretty up front and blunt about her feelings towards me (she has none).
How do I handle her attitude? I do what I know how to do best – annoy her. When she’s in front of me on the trails, I stretch my neck out as far as possible and try to give her a love bite on her behind. If I don’t watch it, I’m going to get kicked in the face. Has not happened yet, but one day I might be sorry!
Hey, I never said I was perfect!
My family – from left to right: Szcarlet, Bailey, me and Chyna!
I have more words of wisdom, but all for now. I have grass to eat and mud to roll in. If you can relate to any of the above or have any questions for me, please feel free to ask. I love helping horses and humans alike.
Your friend,
Athos
PS: My friend Micaela snapped the Featured Image of me. We were playing Peek-A-Boo!
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.
Frontal Plane
Sagittal Plane
Transverse Plane
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.
“Liz baby, Liz baby, baby, baby, Liz baby!” he sung every time we crossed paths. Pete was my postman when I was in college at the University of Vermont. Tall, good-looking, great personality – Pete, a proud Jersey boy, knew everyone in town and everyone knew Pete. After years with the post office, he worked himself up to having the the best and most coveted route in VT – Church Street in downtown Burlington and its immediate surroundings.
Over time, Pete and I became fast friends. I knew his older brother who bartended at a well-frequented joint in town- the “Chicken Bone Cafe.” Although I never knew his parents well, his family had a fine reputation in our small community. So, before you knew it, I was leaving my apartment unlocked when I was in class so Pete the Postman could take a short break during his busy workday to wander in out of the snow and warm up, or quench his thirst in the heat of summer with a cold drink. We saw each other around town, met for coffee and hung out once in a while.
When I received a scholarship to teach in France, Pete was excited and promised to visit.
And visit he did! Just 2 weeks after meeting my husband, Gilles, Pete showed up with a smile. “Hope you don’t mind, Gilles” Pete smirked, “but, we planned this trip long before she met you!”
Pete get his morning coffee!
Elizabeth and Pete in Spain: Circa 1989
Gilles and Pete got to know each for about an hour before we left for Spain. Upon our return, Pete told me in no uncertain terms – “Liz baby, Liz baby, baby, baby, Liz baby – I like that French guy, Gilles. Don’t mess this one up…….because if you don’t end up marrying him…..I will!” he laughed.
Years later, after Yohan had been diagnosed with CMT, Pete stopped by to see us during one of my many summer trips back home. Pete had news. His mother was in a nursing home and had just been diagnosed with CMT (Charcot-Marie-Tooth disease). “No way!” I responded. What are the chances? I wondered if he had CMT, too…??
Click Here to hear Pete Akey tell his CMT story – You’ll laugh – I promise:
Yohan and I could not wait to take a look at his feet. As he removed his socks and rolled up his pant legs, Yohan and I looked at each other and said-“Yep, looks like CMT to us!” Pete had lost his hair from the ankles down (he wore socks to bed), had mildly curled toes, chronically cold feet and loss of sensation. Apparently, his brother also had symptoms, more severe than his own.
Pete went to see Dr. Shy who was in Detroit at the time and received confirmation of CMT 2!
I thought this was the biggest coincidence of a lifetime….until I started meeting others whose friends or family members had been diagnosed with CMT.
-The owner of the VT company who makes our Cycle 4 CMT swag told us his brother-in law had CMT but he never talked about it.
-My good friend and long-time neighbor, Sara Jane, has a friend whose husband’s father and children have CMT.
-My dearest friend Shirley has a 90-year-old friend with CMT.
-My friend and colleague, Jeana Sweeney has CMT as does her husband’s twin brother’s wife’s father (Jeana’s sister-in-law’s father- no blood relationship) and his extended family all have CMT.
-Later, we found out that the wife of one of our very good French friends had a family history of CMT.
-Just last summer, I was walking around the downtown area of Burlington when I stumbled upon a man with “the walk.” Before passing him on the sidewalk, I’d noticed his leg braces, the walking poles, the hand contractures. Still on a high from the VT Cycle 4 CMT event the previous day, I just could not help myself.
“Hi! Sorry to bother you….ummmm, just noticed your leg braces and was wondering if you have Ceee Emmm Teee?” I enunciated in an obnoxiously loud voice. You know, Charcot-Marie-Tooth disease, like my son, Yohan…….blah, blah, blah.” No where to turn, Bill tried to look away. In fact, the more he ignored me, the louder I spoke. What can I say – I have a big mouth and I’m passionate about this cause! In retrospect, Bill was probably a little scared inside, wondering if I was having a manic episode or needed psychiatric care.
After a bit of conversation, I learned that the doctors had never really given him a definitive diagnosis, but he confided that he had a progressive peripheral neuropathy and his son had very similar symptoms. I sent him a lot of CMT information and we still keep in touch. He’s the nicest guy ever and I’m glad I decided to stalk him……I mean, strike up a conversation with him.
Is CMT a rare disease? Technically, yes. A rare disease in the US is defined as a condition that affects fewer than 200,000 people. CMT purportedly affect 120,000 Americans.
If this is true, CMT is definitely the most common rare disease no one has ever heard of.
But, if I had to bet, I would say it is MUCH more common that the current, but very outdated statistics of 1 in 2,500 people worldwide reveal. With lower cost genetic testing, increased awareness efforts, and many more people connecting and talking on social media platforms, it seems as if the numbers of people diagnosed with CMT have increased dramatically.
The good news? Researchers, pharma and biotech companies have shown an increased interest in understanding and finding a treatment for CMT. Technologies that seemed light years away (axon degeneration, CRISPR, gene therapy) are now ready for prime time. It’s such an exciting time and the CMTA is leading the charge! Learn more here: https://www.cmtausa.org/research/star-gene-therapy/
So, what about you? Got a CMT story to tell? If so, write it in the comment section. I’d love to hear more serendipitous stories of chance encounters!
First signs include frequent tripping, toe-walking (children) , frequent tripping, ankle sprains, clumsiness and “burning” or pins-and-needles sensations in the feet or hands.
Structural foot deformities such as high arches and hammertoes are common. Some people present with flat feet.
Muscle wasting in the lower legs and feet may lead to foot drop, poor balance and other gait problems.
Muscular atrophy in the hands often causes people to have difficulty with tasks involving manual dexterity, such as writing and manipulating zippers and buttons.
Abnormal sensation in the extremities and an inability to sense where one’s body is in space are also common, and many people experience neuropathy, muscle or joint pain.
Poor tolerance for cool or cold temperatures is typical and many people have chronically cold hands and feet.
Additional symptoms may include hand contractures, tremor, knee dislocation, cramps, atrophy of muscle located between the thumb and forefinger (thenar muscles) , chronic fatigue, sleep apnea, breathing difficulties, swallowing difficulties, absent or reduced reflexes, poor proprioception, poor circulation, scoliosis, kyphosis and hearing loss.
Psychosocial Effects – psychosocial impact of having CMT can be quite devastating, leading to irritability, depression, anxiety, sadness, isolation, loss of pleasure, weight gain or loss, hopelessness, worthlessness, guilt, thoughts of death or suicide attempts. Please speak with your doctor…..
A CMT diagnosis involves clinical evaluation of muscle function and atrophy, testing of sensory responses, and electromyographic and nerve conduction studies. Many types of CMT can also be diagnosed by genetic testing.
Additional symptoms may include hand contractures, tremor, knee dislocation, cramps, atrophy of muscle located between the thumb and forefinger (thenar muscles) , chronic fatigue, sleep apnea, breathing difficulties, swallowing difficulties, absent or reduced reflexes, poor proprioception, poor circulation, scoliosis, kyphosis and hearing loss.
The psychological impact of having CMT can be quite devastating, leading to irritability, depression, anxiety, sadness, isolation, loss of pleasure, weight gain or loss, hopelessness, worthlessness, guilt, thoughts of death or suicide attempts. Please speak with your doctor…..
A CMT diagnosis involves clinical evaluation of muscle function and atrophy, testing of sensory responses, and electromyographic and nerve conduction studies. Many types of CMT can also be diagnosed by genetic testing.
I walked into the ice cream store, craving a scoop of malted milk ball deliciousness – in a waffle cone, of course. As the only bona fide paying customer in the shop, I expected quick and efficient service, but the middle-aged man freaking out about his lost credit card was getting allthe attention.
The employee sporting blue-tipped hair and wearing a nose ring was all taken up with the anxiety-stricken fellow who had a zillion and one questions about their lost credit card policy. “Just cancel the card and get a new one.” I thought impatiently. “Duh.”
The second employee, a young man with very thick glasses and wavy hair appeared on the scene, licking his lips and wiping them on his sleeve. I wondered which flavor he was “taste-testing” in the back room. Ready to order, he glanced in my direction and then walked right past me, mesmerized by the credit card debacle. “OMG. Really?” I muttered to myself.
Boring holes in the back of his head with my intense stare for what seemed like 10 minutes, he finally took an interest in me. After ringing up my purchase, he announced, “That will be $3.25” as he turned the iPad screen in my direction. “Just swipe your card and sign after you choose the tip amount.”
What in the heck did he do to receive a tip? He spent 15 seconds putting 1 tiny blob of ice cream in a cone. Did doing his job, albeit poorly, deserve a tip?
Feeling annoyed by the pressure to give him more money, I chose the “No Tip” option. Not this time, buddy.
“Card declined.” he said with a smirk. The second swipe did the trick, so he swiveled the Ipad back toward me and once again had the audacity to ask me to choose the tip amount and sign.
At this point, 3 more customers had entered the shop, and were waiting to be served. They has listened to the entire exchange. So, guess what I did? I caved. I freaking caved and I’m not proud of it. Why? I just wanted the anxiety and pressure to go away. I wanted to eat my cone in peace and quiet. I wanted everyone to just leave me be.
Tipping seems to be getting more and more complicated and confusing. In restaurants, I usually tip the waiter, knowing he/she counts on tips to make a decent wage. I’m good with that.
But, what about hair dressers, baristas, masseuses, Uber drivers, postal workers, valet attendants, bellhops, dog walkers, tour guides, ice cream scoopers, etc…. Am I expected to spend any and all extra cash on employees in the different service industries? And the pressure mounts each and every day to tip. Those Ipads with boxes for tip amounts are the worst. While the cashier and everyone in line stares at you, a monetary decision needs to be made. No time for hesitation or indecisiveness.
Along the same lines, every time I make purchases in certain stores, I am publicly asked for charitable donations.
Last week, I went into Whole Foods to buy groceries for the holidays. Upon check-out, the cashier asked me if I’d like to give a donation to XYZ charity. I was prepared. I knew the question was coming and I had an answer – “No” I say a bit too forcefully. And then more mildly, “No thank you.” The pride lasts for a nanosecond and soon thereafter, I make my exit, feeling sheepish, cheap and uncaring.
Watch this short South Park clip for a laugh:
How about pet stores? Purchasing catnip, I slide my credit card and the screen makes me answer “Yes” or “No” to the following question – “Do you want to save abandoned dogs and cats?”
What kind of question is that?
Of course I want to save abandoned dogs and cats. I want to save all homeless animals, everywhere! I like animals more than most humans, but the guilt-trip is too much!!
At Safeway, I came across the same type of question, “Would you like to feed the starving children?
Ummmm – Of course not. I want all starving children to die of hunger. Soon.
Really? The more I read, the less I appreciate the fundraising tactics used by many charities.
I love ice cream, I adore animals and I do not want anyone to die of hunger, but I do not have an infinite source of cash on hand and need to choose wisely. If I gave a donation or a tip to every person who asked, I’d need to set up a Go Fund Me page to pay for my everyday expenses or risk ending up homeless, hungry and lonely as I’d have to give up my cherished cat…..how could I possibly afford to feed her the 4 cans of cat food she devours daily? Seems at odds with the original concept.
Ultimately, it’s important to be able to say “No, thank you” without feeling guilt, remorse or awkwardness. One of my mentors who I deeply admire used to tell me, ” What other people think of me is none of my business.” He’s right. I do not have to explain my decision making to others and most people probably don’t care if I give a $1 dollar tip or $5 dollars to charity. What’s important is that I do care about others and I do what I can to make a positive difference in the world. I do not need to explain myself ( even though I did just that in this blog post).
Now, I have a question for you. Would you like to help put an end to a progressive neuromuscular disease that affects 2.8 million people worldwide (including my son), causing muscle atrophy, loss of sensation, drop foot, nerve damage, etc, etc, etc? If you answered no, I just have to ask you, “What in the world is the matter with you? Don’t you care about people with disabilities?”
I walked into the ice cream store, craving a scoop of malted milk ball deliciousness – in a waffle cone, of course. As the only bona fide paying customer in the shop, I expected quick and efficient service, but the middle-aged man freaking out about his lost credit card was getting all the attention.
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