Ulcers & CMT

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 

SECRETS: Jeana Sweeney

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

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

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

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

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

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

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

Charcot-Marie-Tooth (CMT) Infographic!

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

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

CMT Awareness Month Quiz! New Questions – 2019

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

a. Inflammatory Nerve and Muscle Syndrome

b. Hereditary Motor and Sensory Neuropathy

c. Funky Foot Disorder

d. Chronic Tendinopathy with fatigue

2) How many different inheritance patterns does CMT have?

a. 1

b. 2

c. 3

d. Too many to count.

3) Can CMT skip generations?

a.Yes

b. No

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

a.Yes

b. No

5). Is CMT a type of Muscular Dystrophy?

a. Yes

b. No

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

a. Neuropathic or nerve pain

b. Muscle pain

c. Joint pain

d. All of the above.

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

a. CMT is an inherited disease.

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

c. CMT is caused by many different gene mutations.

d. CMT affects both men and women equally.

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

a. Yes

b. No

9). Is HNPP a type of CMT?

a. Yes

b. No

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

a. Physical and Occupational therapies

b. AFOs or leg braces

c. Orthopedic surgery

d. All of the above

ANSWERS

#1 – b

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

#2 – c : 3 

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

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

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

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

#3. No. 

CMT does not skip generations.

#4. Yes.

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

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

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

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

# 6. D – All the above. 

#7. C

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

#8. Yes. 

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

#9. Yes

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

#10. D. 

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

Questions? WWW.CMTAUSA.ORG

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

 

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

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

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

deep knee

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

 

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

jgi

 

 

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

CNX_Psych_03_03_NervSystem

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

Common symptoms of CMT include:

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

Capture

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

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

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

EDkItlPW4AEf65T

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

IMG_4237
Cycle 4 CMT event – August, 2019

 

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

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

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

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

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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

By Elizabeth Ouellette

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

But he didn’t.

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

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

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

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

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

Common symptoms of CMT include:

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

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

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

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

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

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

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

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

TurboMed

images

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.

drop-foot

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.

 

Slide1
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.

 

 

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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.

Available for kids and adults!

 

Pony Takes Stand to End CMT

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

Life Advice: Athos the Horse (Almost)

 

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Yohan and Athos: Friends for Life!

 

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!

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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)?

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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.

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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.

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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.

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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.

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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.

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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.

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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!

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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.

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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!

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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.

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Your friend,

Athos

 

PS: My friend Micaela snapped the Featured Image of me. We were playing Peek-A-Boo!

HELIOS® Braces

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.

 

 

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

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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

 

 

 

 

CMT: The Most Common Rare Disease You’ve Never Heard Of!

 

“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!”

 

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Pete get his morning coffee!

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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!

 

What is CMT? Read Below – For more info, go to http://www.cmtausa.org

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What are the Symptoms of CMT?

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.

The foot of a person with CMT. The lack of muscle, a high arch, and claw toes are signs of this genetic disease.

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.

Please visit http://www.cmtausa.org/diagnosis for more information.

 

Guilt Giving: Let Me Count The Ways

eyesinconesI 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.

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.”

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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?”

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If your answer was yes, you are a true pal. Please make a donation to the CMTA here:  https://www.cmtausa.org/donate/make-a-donation/

 

Oh, and you can add a tip, too…….no pressure – LOL!

 

 

 

How Do You Spell Progress in CMT Research? STAR!

Gilles Bouchard’s passion to advance CMT research started when his son, Yohan, was diagnosed with CMT.

On the 10th Year Anniversary of the launch of STAR (Strategy to Accelerate Research), CMTA Chairman, Gilles Bouchard, gives a webinar explaining the current status and remarkable advances made in CMT research. This webinar was so informative and well-done, I transcribed it for you. Spread the word folks. Pretty amazing work being done right now.

The actual webinar can be heard here: https://www.cmtausa.org/resource-center/learn/cmta-webinars/

 

Never before has the CMTA had so much treatment-driven research going on, and we continue to grow, expand and reach new people and partners. Please read up and I’ll give updates as the come down the pipeline. So thankful for our clinicians, scientists, volunteers for making this work possible. Thanks to all our generous supporters who make this vital work possible.

Webinar Transcription:

I’m the chairman of CMTA, and our family’s been involved with CMT and CMTA for almost 15 years. Our son Yohan was diagnosed with CMT about 15 years ago. So it’s been quite a journey for us, as for many of you, I’m sure. What I want to do today is give you an overview of the STAR program.

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As you can see from the logo, we are celebrating the 10-year anniversary of STAR.  STAR has been very successful, offering promise and hope for the 3 million people worldwide with CMT. Nevertheless, for people like you and for me, 10 years feels like an eternity when there are still no viable treatments for CMT. On the other hand, 10 years is actually a short period of time when it comes to developing drugs.

About 10 years ago, we had a CMTA board meeting to discuss our approach to research. We realized that while there was some good research and a few really brilliant researchers working on CMT, there wasn’t really a lot going on in terms of research that would bring drugs to market. And we asked ourselves, how do you accelerate research?

It’s extremely challenging to develop new drugs. On average, it takes 10.5 years from the time a drug is identified to get approval. The clinical part of this 10-year process takes about 8 years. Even scarier, 90% of the drugs fail during the approval process. And it costs hundreds of millions of dollars ……

 

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So we asked ourselves, from a business point of view, how to accelerate this process?

From a research point of view, let’s look at the some of the positives about CMT:

  • The causes for the most common types of CMT are very well known, and more types are discovered every year, which is not the case in many diseases, especially for the nervous system. We can create animal models. We can create assays or cells in Petri dishes so we can create stem cells. Now we can test and create models of CMT, which are very valuable to our partners.
  • The other positive is that CMT is classified as a rare disease, which gives companies some advantages in the market. Although CMT is rare, it’s still fairly common and there are a large number of people with CMT,  which is helpful for companies because obviously it’s still a big market and it allows us to have enough patients for clinical trials..
  • Since the CMTA has these models, we can take advantage of the latest developments in genetic and neurological therapies. As you know, since the genome was sequenced, there’s just been an explosion of technologies and applications, and many of those actually apply very well to CMT. So that’s very positive for us.

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What makes it interesting for a pharmaceutical company to work on CMT?

  • Testing Infrastructure – We have  developed a very extensive testing infrastructure. We created animal models, assays (tests). We created stem cells when they were needed. We also work with companies who specialize in testing animal models and analyzing tests. It’s what we call the STAR testing infrastructure, and it’s a very powerful infrastructure. In fact, most companies approach us because they’ve heard about this testing infrastructure, and they want to work with us on testing their compounds or their drugs or their ideas. And you’ll see, as I go through the details by each disease, I’ll give you examples of the things we’ve done there.
  • Key Opinion Leaders (KOL):  Companies know their drugs and technology well, but they might not be experts in CMT, so they won’t have access to key opinion leaders, who are experts in CMT. This is why we built such a strong scientific advisory board – they collaborate with our partners and advise them on CMT. This creates strong teamwork and complementarity between their knowledge and the expertise of the companies.
  • Community Access. I always say that the CMT community is our biggest asset. Companies want to talk to the community to better understand the disease. They want to understand what’s called the burden of disease, how it affects people, how it affects people’s lives.

Almost every company tends to have dedicated resources to engage the community. Our CMT Association is a huge asset for us as we reach many people worldwide. And again, we thank you all for just being part of that.

 

  • Clinical Infrastructure: Once companies are done with the testing in animals or in assays, they want to test in humans and bring drugs to market. And this is where drug development becomes very expensive. Again, hundreds of millions of dollars are spent in clinical trials. And the more people you need, and the longer it takes, the more expensive it is, and that can often be an inhibitor for companies to work on the disease. It is especially challenging in CMT, because it’s a slowly evolving disease.

 

So how do you tell that a drug is working in a slowly evolving disease without spending years and years following a large number of people?

We work with the INC (Inherited Neuropathies Consortium), started by Dr. Mike Shy, who has involved many world-renowned clinicians and scientists. They had the vision to create this infrastructure like the Centers of Excellence (COE), where they see people with CMT. They do what’s called natural history, where we see how the disease evolves over time with patients, and then we develop biomarkers or ways to measure the progression of the disease.

 

The whole idea behind biomarkers is that we want to run clinical trials in just a few months with a handful of people, and get a good quality read whether the drug is working. And we’ve made tremendous progress here. And that’s a really attractive part for companies now.

 

Financial Support – We’ve learned that we have to be very flexible, and we have to provide the kind of support that fits their business models. So we work together on joint projects or  even give them access to some funding through investors.  We’ve learned to be very flexible on how we can help companies where needed.

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STAR is based upon five core business principles:

Partnerships: We have announced five partnerships. The one thing we look at in terms of the measure of success is how many partners are we able to attract, how many phone calls we get a month about companies interested in working on CMT. And frankly, the last two years, it’s just exploded. So, besides the five that we’ve announced, there are  actually eight more companies that we have not announced because they want to remain discrete right now. Again, they want to wait until their results are published to go public.

And we have a pipeline, meaning that we are in early discussion with another 15 more companies. Three or four years ago, there were only a handful of companies who were working on CMT. So this is probably the most exciting part as it shows that STAR’s starting to work because there is a long list of companies actually doing some work on CMT, and an even longer list of companies interested in trying to figure out how to work on CMT.

 

For reference, we also have five wonderful partners who help us work with pharma companies through all the testing procedures.

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Sanofi Genzyme – is a very big company, and we started by screening their whole library, and basically, we’re down to one compound now, and we’re in the process of testing it, and we should know very soon whether it works successfully, and then we’ll decide what is the next step on this one.

But even more exciting is that we’ve actually grown that relationship, and we have now three other projects with Sanofi. There’s another family of compounds that they’re very interested in, and we’re actually testing those as well in CMT right now. They’ve also done some really good work with us on biomarkers, which hopefully will be published soon.

Lastly, we’ve done some work on what’s called target discovery where we have worked together on finding other potential drug discoveries or other compounds that targets  CMT, and this has led to additional projects.

 

Ionis – You may have heard about the breakthrough with Ionis last year. They used components called ASOs, which go straight to the gene and really counteract the negative effect of having a duplicated PMP22 gene. That was a major breakthrough because they were able to stop and sometimes even improve the situation in two different animal models. This was probably the best example of showing that when you reduce PMP22, it actually helps the behavior of the animals – a breakthrough!

Now, they are basically working very hard in trying to design a drug for humans. Even though they have the drugs for animals, it’s obviously a lot more complex and challenging to develop the drugs for humans. They want a drug that’s very efficient, so that it can get to the nerves. We’re also in discussion with them about clinical planning.

 

InFlectis – We’ll talk in the context of 1B and 1A. Inflectis is a company in France that has developed a very interesting compound that has shown some exciting results in 1B and also in 1A.

Acceleron – You might have heard of Acceleron because we’re actually recruiting for clinical trials right now. They have a drug that helps rebuild muscles, so while it’s not a direct cure for CMT, it could really help people with muscle wasting caused by CMT.

Regenacy – one of several companies that’s working on what’s called axon degeneration. It’s a field that’s seen a lot of development the last couple years, where people try to find out ways to stop the degeneration of nerves.

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To be the most effective with our resources, with our money, we find initiatives that cut across all diseases. Personally, I think it’s strategically something that is very important, and guess what? There are five of them.

Gene Therapy – You may have heard about CRISPR and gene editing. It’s a field that’s been around for quite a while, but it’s completely exploded over the last two or three years. There are close to 1,000 clinical trials in gene therapy around the world.

Currently, these efforts have only produced 2 new drugs; one of which which was approved in the U.S. less than a year ago for Spinal Muscular Atrophy (SMA). As we continue gene therapy research inside the lab, our ultimate goal is to transform it into effective treatments for people living with CMT. I encourage you to watch the PBS documentary: “The Gene Doctors” to understand my excitement, as it is clearly going to be a big part of our future.

Gene Replacement therapy also will be applicable to CMT. With gene therapy, scientists  take genetic material, put it in a virus, and the virus goes in the nerves, and this genetic material kind of compensates for the gene that’s either missing or deficient. This suits CMT very well because we know the genes that are deficient, and we have models where we can test it. So people are very excited about applying gene therapy to CMT.

Now, a new branch of gene therapy that’s exploding and is relevant to CMT is CRISPR also known as gene editing. Here you don’t just put an additional gene material in the cell, but you actually go in there and change it – change the genome. 

Axon degeneration –  it turns out that there are a couple of really big markets that are driving this. One is chemotherapy, which creates a lot of neuropathies for people, and the other one is Diabetes. So a lot of companies are working on these diseases, and they are very interested in applying it to CMT.

And remember, from a business point of view, it’s always very interesting for a company to have a rare disease indication for a medication because they get the advantage of the rare disease while having the bigger market. So there are at least five companies we’re working with right now on different approaches to axon degeneration, and we’ve also launched several specific studies that we’ll talk about per the various diseases. And one of the beauties of axon degeneration is it could apply across CMT types, even the ones they are not diagnosed.

Models: It’s incredibly important to have quality animal models, usually mice, sometimes rats, and cell models or assays and stem cell. We can take people’s skin samples and make stem cells, and then we can make neurons or Schwann cells (Schwann cells make myelin) out of them.

Gene discovery: As you know, we’ve discovered a lot of CMT-causing genes. I think we’re up to 120, but there are still many types of CMT which have not been discovered, especially Type 2’s. It’s very important to continue that, especially in the context I mentioned earlier, that more and more of the new therapies are very gene-specific. So we need to continue to discover more genes.

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Biomarkers – We are collaborating with the INC, which CMTA supports directly. Most of the funding for the INC comes through the NIH, but both the MDA and the CMTA provide additional funding, and then we have also funded several specific projects on top of it.

Biomarkers are important to track disease progression over time. Scientists are looking at elements in your blood. For example, Dr. Mary Reilly’s lab is looking at neurofilaments and her promising work is being published.

And then another project, again, in the blood, looking at what’s called microRNAs. This was funded by CMTA with Drs. John Svaren and Mike Shy and another company that we’re working with on this.

We are also looking at skin biopsies because you can actually detect levels of PMP22 in the skin. The CMTA is funding this encouraging project, spearheaded by Drs. Svaren and Shy.

We are also looking at MRIs of the calf muscle and looking at the fat content in the calf muscle, which correlates to disease progression. So, when you put all the three approaches together, we now think that we can run clinical trials over a shorter period, six months, with maybe as few people as 50, which is huge progress from the past when we needed hundreds and hundreds of people.

 

We’ve done a lot of work in CMT1A, and now we are funding efforts to address the other most common types, so you’ll see a lot of this for 1B, 1X, 2A, and other types. Now those biomarkers are again, elements that we look at in the blood or in the skin, but also, the FDA wants to see what’s called functional outcome measures. They really want to see the patients getting better. For example, with treatment, are people walking better, getting better use of your hands, etc….. So the team has been really busy coming up with the scores, which are functional in nature and which try to capture how much better people are or worse people are as their disease evolves, and try to do it in a way where we can see small changes, and also in a way that correlates with those biomarkers. The good news is there’s a major grant that was just approved by the NIH for the next two or three years to continue this work, so I think we’re going to be in very good shape.

We are also measuring activity in people’s homes with wearables.  We’re looking at a proposal right now to look at some sort of wearable device where we could measure people’s gait, et cetera, when they’re home. This would give us an indication about  diseases progression while at home which would give us a longer timeline and more information. .

 

Disease by Disease

1a

CMT 1A –  So, as you know, CMT1A is created by the duplication of the PMP22 gene, so the most obvious thing to do is to try to decrease the level of PMP22 in the body. We have the small molecule screen going on with Sanofi. We have the ASO approach with Ionis. We are now working with another company who actually wants to use CRISPR to decrease PMP22, so that’s very exciting, and actually, those tests are just about to start. And then also we’re looking at a very interesting proposal to kind of combine a gene therapy approach with an ASO approach where you would use a virus to send a little piece of RNA into the cells to try to interfere with the PMP22.

Now, besides the pure focus on PMP22, there’s been a lot of work done over the years to see this with other targets in the body that the new drugs could go after to help with CMT1A.

One in particular that’s shown some promising results is called P2X7, and we are working with two companies right now with drugs that target this. And they actually both are in testing right now.

We’ve done work to identify new targets, and we are actually funding a project that’s in full speed right now to look and see if there are other elements that we can identify that could help decrease PMP22. And then we’ve mentioned axon degeneration. This applies to all CMT types. If the work progresses well with other types of CMT, it could be very applicable to CMT1A.

We are doing the muscle regeneration work with Acceleron.

 

About two or three weeks ago, a company called Pharnext announced a Phase 3 clinical trial for CMT. The early results of their tests were encouraging. They showed that in some patients the disease improved, in others it was stable, and, sure, in others it got worse. But it was clearly better than the control group and the placebo. I think the general consensus around scientists is that this is interesting, and we want to see a lot more of the data as it becomes available throughout next year.

They will have to do this, obviously, as they engage the FDA, so it will be very interesting also to see how the FDA engagement happens. And we think all this will happen through 2019, so again, very interesting announcement.

So we all have to really help them in a way because they are defining how the FDA and the agencies think about CMT. Again, nobody’s been there before, so we’re working very closely with them, and all the patient advocacy groups are really involved.

It’s our first chance in a way to make the voice of the CMT patients heard to the FDA or to the European agencies, so it’s very important for us to all work together and basically make the voice of the patient heard. So this very first drug is going through this right now.

CMT1X

 

 

 

 

 

 

By the way, on the right is the CMT1X gene, and I think there are over 400 different mutations of the CMT1X gene.

There was a study on natural history that was just published. I encourage everybody to go to the Centers of Excellence and to go back because then our scientists can not only study your CMT, but see how it evolves over time, and that’s what’s called natural history. And this is one of the most important things that companies and pharmaceutical companies want to see, to really help them figure out how the disease evolves after the drugs get administered to people. So, there’s good data on 1X, and I think we’ll continue to see it happen in also in other diseases, but we need more and more patients to do that.

We just approved this year the funding to develop new mouse models of CMT1X. Pretty much all the work on 1X has been done with a mouse where the whole gene was removed, and it’s actually a very good model. But we feel it’s time to get more precise models with specific mutations, especially as new  genetic technologies are coming into play. So we’ll need better models that we can just look at the specific gene mutations. So this is being funded, and it’s in progress.

We are also co-funding a Dr. Kleopa’s gene therapy project with the MDA . He has shown some really good results in mice, where he was able to get the gene material to the Schwann cells in the mice, and it did have an effect. So we continue to push on this project, and we try to find ways to make it more translational, meaning – how do we bring this to humans as quickly as possible.

 The role of inflammation for CMT1X was highlighted by Dr. Martini in Germany. And there are several companies that we’ve talked to that have drugs that target the element that he identified as being part of the inflammation. The challenge there is that it’s hard to find a drug that doesn’t also affect your immune system, so we are in discussions with drug companies to see if we can find a drug that does go after this inflammation factor but doesn’t also wreak havoc in your immune system.

And last but not least, axon degeneration, is very important for 1X, as it is one of the types of CMT where we see fairly severe axon degeneration, so we are evaluating right now a proposal to actually do a specific experiment to try to highlight the role created by axon degeneration with a specific target.

 

Now let’s move to 1B which has about 200 mutations which fall into 3 categories, and we have good mouse models for each one of the categories of CMT1B – early onset, mid onset, and late onset. We  continuing to do some testing with InFlectis at the animal level with them, and we are in the early stages of clinical planning.

 

By the way, if you look at the picture on the bottom left, you see three little pictures. The left one shows the myelin around the axons for a normal mouse. The middle one is a 1B mouse, so you see it’s really degraded. And on the right side is a 1B mouse treated with Sephin, so that’s why people got really excited about Sephin because it showed some really good results in the mice. And the other good news is InFlectis with their drug  Sephin were recently approved for the Phase 1 trial in Europe. Phase 1 is when you actually go to healthy patients and just test the drug for safety, so if you combine this with the animal model trial we’re doing with them, pretty soon after that, it’ll be late next year, if it’s all positive, they might be able then to move to clinical trials in humans, which would be very exciting.

The other part of the puzzle is called UPR, the unfolded protein response, and because Sephin seems to be acting on this UPR, (gene makes the protein form in a different way). Dr.  Mike Shy analyzed all the CMT1B mutations and figured out the ones that were affected by UPR. So those were the ones that would be most likely candidates to work with Sephin.

There is encouraging results using Sephin on CMT1A. We could potentially have clinical trials with both diseases if all goes well.

Axon degeneration is also very applicable for 1B. In fact, we funded a project which is active right now, just like in 1X, to see basically if the specific target has an effect with CMT1B. We should have the results on this probably early next year.

CMT 2

I put all the CMT2’s together because we find a lot of technologies now apply across CMT2s. So why is this so exciting? Basically, a few years ago there wasn’t much going on in CMT2, and all of a sudden we see a lot of activity. And this is because two interesting things are happening. The first one is all those new genetic technologies  tend to apply really well for CMT2 because, if you recall, CMT2 affects neurons, and the genetic material of neurons is actually located in the spine. 90% of your neurons are in your central nervous system, so the people who are working on those technologies for the brain or the spine are very familiar with neurons, and also they’re very easy to get to and to deliver a drug to. So they really want to start to try that on CMT2s.

And the other part, based on our strategy, is that we have developed some really good models of CMT2. We have two excellent rat models which our partners really love. There’s a good mouse model of CMT2E that’s been around, and we also have some good stem cells. So all this coming together shows that there’s a lot of interest in CMT Type 2. A lot of those technologies apply across CMT2 and will carry over to CMT1, but it’s a good place to start with a lot of those new technologies, so let’s go through it.

Gene therapy. So a lot of focus on gene therapy, especially for CMT2. What we did is we put together a summit in Baltimore this summer, and it was really incredible because we asked the world experts in gene therapy to join us to help us basically not only educate ourselves but to also help us build our strategy. In the room, we had a dozen of the world’s leading experts in gene therapy. It was really amazing to see the quality of the people, their willingness to come work with us, and also the openness. They were sharing very openly, and it was incredibly productive. And basically, what we’ve been doing since then is we’ve been working with them to define a very specific gene therapy strategy, which we’re not quite ready to communicate in detail, but there’s a lot of activities, a lot of partners involved, and it’s something that’s really, really exciting to us because it will probably start in a couple of CMT2 types and may have broad applications over time across all CMT types.

And also I want to mention that there’s a family that’s done some really amazing work on CMT2D, and they are pushing a single-patient initiative. And they’ve approached us to work together with them, and we’ll support them wholeheartedly, because they’re also helping pushing the envelope.

Axon degeneration –  we have an experiment going on with a partner on CMT2A that holds promise and we also have other companies that are willing to work with us on this, so very exciting.

Now, CRISPR, that’s another really interesting area. And I’m sure you’ve seen it on TV, you’ve heard a lot of the discussions about it. We’ve been approached by UCSF, and you might have seen their video about CMT, but they are really interested in working on CMT, and they really want to work with us. And they were part of our last STAR meeting. We have STAR meetings twice a year. The last one was in San Diego in October, 2018 and it was just an incredible meeting. I think all the scientists there were just glowing about how this was the best meeting ever and the quality of the new people coming in, and the CRISPR folks were there, and they really lit up the room with their ideas.

Still a bit exploratory, but fast-moving, is a technology called CRISPR surgery where you take blood samples from a given patient and then from those blood samples, they will grow them into stem cells. Those stem cells they will grow into neurons, and then they will then edit those neurons with CRISPR to remove the defective gene or fix it. And then they will reintroduce this into the body.

We also talked about the need to continue to discover new genes, especially those CMT2s, so we actually increased our funding for Dr. Zuchner in Miami, who’s doing an incredible job with his database, and he’s discovering genes almost on a weekly basis.

And then a couple of disease-specific initiatives. We actually did a screen of approved drugs for CMT2A. Unfortunately, the hits were not that convincing, so I’m not sure we’re going to follow up with that, but at least we did it, and we have a good assay to do that. And then there was a paper that came out last year that showed some specific drugs could really help with the activity of mitofusin, and we are basically doing a pilot program with them to try to dig into this further, so this could be very exciting for CMT2A. And in CMT2E, thanks to the work that was done on creating the stem cells, we are just starting to do some drug screening using those stem cells, which is very exciting.

 

Some people asked questions about CMT2C because the gene is the same as on some version of SMA. They were asking about the SMA drugs that has been marketed. But, again, and I’m not a specialist here, but the SMA drugs that are on the market are for a different gene than the one that is just CMT2C now. There’s some good work going on in CMT2C in a couple of centers in the U.S., and some of those things we’re talking about would apply across all of the CMT2s.

 

CMT4. Now, CMT4 is very well suited for gene therapy because it’s monogenic, but also because, remember, CMT4 is recessive, so both genes are affected, so there is what’s called loss of function, and this should be very attractive for people working on gene therapy because they can replace all the genes.

 

So we’ve had this project with Dr. Kleopa co-funded with the MDA that was actually showing some promising results in CMT4C that’s been included, obviously, in our Baltimore discussion. And then, again, there’s a family doing a wonderful job on CMT4J pushing also a gene therapy approach, and we are in discussion with them how we can work together and support them. So a lot of exciting things for CMT4 on gene therapy for CMT4, and of course, axon degeneration would apply there as well, then gene discovery as well.

 

We’re not done yet. We have a lot more work ahead of us than what we’ve done, so it’s really important to support STAR. And I just want to explain to you, from our perspective, why it’s so important and more important than ever to support STAR.

 

Leading Program – It’s a really exciting program, and a lot of partners are coming to it. Again, people speak by joining us, and the list of companies keeps growing, and there’s no better measure of success and credibility for me than this. But besides this, we’re also very careful about our resources. If you look at our financials, they’re really best in class, and we continue to improve them.

 

Best-In-Class Financials – If you look at most organizations, they tend to have overhead levels in the upper 20’s. CMTA historically was around 20%, which is really good, if you look on Charity Navigator, it’s actually quite good. But we’ve actually improved it. We made a lot of tough decisions the last two years because we want to continue to improve that. And if you look at last year’s financial, we were down to 12% as overhead, which is absolutely world-class, and I’m really proud of the team. And we actually think we can sustain kind of this low-teens level looking forward, so a very, very world-class performance here.

 

Decision Makers – And the other thing that is very special that I really am proud of about the organization is the people who are making decisions, the board members, are also major donors. So in a way, people put their money where their mouth is. About 20% of revenue comes from the board itself, so the point there is we’re going to take care of your donations very well because ours is there as well. So we are all major stakeholders here. We’re all in. We believe in it, and again, we speak with our own money and own fundraisers, and this, I think, is very unique about this organization that is very special. And I can’t say enough about my colleagues on the board and their dedication and the amazing work they do. And it’s recognized, and we work very hard for this.

 

Recognized: We just got upgraded to platinum by GuideStar. With Charity Navigator we’ve been in a three-to-four star range for the last few years, even though they keep raising the bar. And last year, for the first time, they gave us a perfect 100% rating on transparency and governance. We’re very proud of that, so it’s very important to look at those third-party evaluations.

 

Multiplier Effect – Because we work with partners, the heart of our strategy is that when we spend one dollar, it’s really to incite partners to come in and spend 10 times more at least. So when you give a dollar to STAR, obviously, we take good care of it, it’s spent very wisely, but also it brings in partners that spend the big money, and our partners spend tens of millions of dollars on CMT, and this multiplier effect is really important.

Remember, we don’t have the hundreds of millions of dollars that it takes to develop the drugs.

This is a very challenging but also very personal journey me. That’s why I wanted to show a picture of Yohan here, my little hero. He didn’t choose to have CMT, but he’s the reason why I’m involved, why we’re involved, and why we have a passion around this. And I think for all of you on the phone, I’m sure it’s the same thing. You all have a personal journey, so the point I want to make is, 10 years ago when we looked at the situation, it was bleak. It was like staring into the abyss. There wasn’t much to do. It’s not the case anymore. There’s a lot everybody can do.

 

Everyone can join the movement. Please get involved. Everybody has a role to play. These are exciting times, but there’s a lot of work to do, and we need everybody on board to help us.

 

The CMTA has branches, we have fundraisers, we have walks. Just please make CMT your cause and help us. And also, help yourself. Make sure to join the INC Patient Registry so you’ll be there when clinical trials come along. Go visit a Center of Excellence, and go again. This is how we get a natural history. It’s really important, especially for the less common types of CMT. We need more and more patients so we’ll be ready for clinical trials.

 

And then when I started working on nonprofits, people told me about the three W’s, and I think that applies to everybody. So we can all help through work, through wealth, and through wisdom, and hopefully all three or a combination thereof. And then all together, we’ll move this forward.

CMTA RESOURCES

 

 

 

 

 

 

The work the CMTA is doing right now on all fronts is nothing short of impressive. Please get involved!

http://www.cmtausa.org