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

 

The Elusive Diagnosis: When Doctors Just Shrug

Rip Van Winkle. Ring a bell? He’s the fellow who wandered about in the Catskill Mountains only to meet up with a group of ornately-dressed bearded men who uttered not a word. They may not have been a chatty bunch, but the liquor they shared was laden with a sleeping potion that stole 20 years from our friend. According to the story, Old Rip nodded off, only to awaken 20 years later to an unfamiliar world, with which he was no longer acquainted.  This is where my story starts….

Over the past 20 years, I’ve been sleepy…..really sleepy.  I liken my chronic drowsiness to taking sedatives every 4 hours of every day.  I’d sleep 10-12 hours a night and still fall into a coma at some point during the day which necessitated a 60-90 minute nap. Most days, I enjoyed 5-6 functional hours,  thanks to medications used to treat sleep disorders like narcolepsy.

Doctors  postulated theories to explain my sleepiness: chronic fatigue syndrome, depression, chronic pain, anxiety, allergies, sleep apnea, nutritional deficiencies, Lyme disease, medication side effects and idiopathic hypersomnia (sleepiness with no known cause). None of the above seemed to pan out, so I offered my own 2 cents and added a couple of culprits of my own – African Sleeping Sickness, Cancer, Magic Spell (along the lines of what happened to Mr. Winkle). Finally, I took stock out in toothpicks-I had to have some way of keeping my eyes wide open. 

When medical professionals can’t come up with a diagnosis, they often just shrug, apologize, blame the system or the patient, send you to a different specialist so you are no longer their problem, and of course, some dare to share their opinions, many of which are insensitive and insulting.

Looking over my labs, one physician declared, “You look perfect on paper!! HAHAHAHAHA.” Other comments included, but were not limited to, “You probably have Chronic Fatigue Syndrome. Learn to live with it.” and “You are getting older. You do realize that 55 is not the new 25?!?”  Comments like these just made me angry. I envisioned poking their eyes out or punching them in the throat. I would never have actually done these things because I value my freedom and jail does not look fun and neither does the psychiatric unit of my local hospital.

For years, I rode the waves of acceptance, rejection, frustration, resignation and desperation. Every single test came back “Normal”, which, as I’ve been told by many a doctor “is a good thing.”  I beg to differ- it is not a good thing when you know there is something wrong, but no one can figure it out!

Combined, my symptoms of sleepiness, exercise intolerance, allergy to alcohol, flushing after eating, extreme reactions to environmental allergies in the spring and fall including headaches, sinusitis, hives and vertigo as well as overall body itchiness did not seem to fit any one diagnostic category.

Literally, sick and tired of being sick and tired, I tried to cover up my symptoms and hide my sleepiness. I lived a double life. When I did go out with friends, I held everything together, only to spend days recovering, sleeping my life away.

Several years ago, I happened upon a new doctor in my area specializing in treating mysterious maladies, including chronic fatigue. I eventually picked up the phone and made an appointment. His first availability was in 6 month – 6 months!

Luckily, there was a cancellation. One month and a zillion blood tests later, Sherlock, the mystery-solving doctor felt certain that I had something called, Mast Cell Activation Disorder (MCAD) and gave me large doses of antihistamines. I was skeptical. What a load of rubbish! I stopped seeing him. A waste of money, I told myself.

Nevertheless, the allergy connection made sense to me and when I got really sick this past February, 2018, I called my allergist. I mentioned the MCAD diagnosis, which was met with resistance, disbelief and push back. In her opinion, I did not have the classic symptoms of MCAD and apparently the new doc on the block did not even do the right test to confirm such a claim. I begged and pleaded shamelessly for her to do the right test. I must have looked and sounded pathetic, because she finally agreed.

 

The test for MCAD came back positive. Seriously…it was positive. I felt numb, shocked, but more than anything, I felt vindicated.

What is MCAD?

Mast cells, which are part of the immune system,  release mediators, like histamine, to remove the thing you’re allergic to. In MCAD, mast cells release mediators too frequently and too often and the body is negatively impacted. In other words,  MCAD is caused by hyperactive  mast cell activity.

One treatment option was to receive once-a-month injections of a medication which reduces sensitivity to allergens. The side effects? A possible increased risk of cancer, stroke and heart disease is all. I immediately signed up.

After 4-5 months, I gradually felt less sleepy. Was this due to a placebo effect? I think not.  I definitely feel 60-70% better than I did a year ago and like Rip Van Winkle, I’m rediscovering my world. What’s changed?

-I sleep less. I still take naps, but I awake after 30 minutes feeling refreshed. During my zombie years, I would take 2-2 1/2 hour nap and still feel sleepy and out of it.

-I am able to read again! I don’t fall asleep after 1 page.

-My focus has sharpened. I am no longer in the clouds all day.

-I am more socially active and see friends more regularly.

-I have free time. What a concept!

-I want to explore the world! I thought my travelling days were over. Next stop? India!

-I laugh harder, longer and louder.

-I don’t dread a night out. I look forward to it!

-I’ve even had nights where it is hard to fall sleep – totally new phenomenon.

-I can be near animals without having asthma attacks, though I do keep my Epi pen close at all times.

-I’m slowly starting to exercise again, and the cramps, muscle soreness and rigidity has lessened significantly.

The drug is expensive, but it has breathed life into my soul. The drug has side effects, but now I live  each day more fully and with much more awareness.  The drug is not the miracle cure, but it Has changed my existence. I no longer spend my precious energy fending off heavy eyelids or the need to fall asleep anywhere, anytime. The change is palpable and exciting, but if I stop the monthly injections, I’ll most likely be sleepy all over again.    But, science is advancing rapidly. Before you know it, there will be other medications with fewer side effects so I’m not going to worry about it. I’m going to embrace the moment and be grateful for how I feel today.

If you have a mystery illness, a chronic or progressive disease, symptoms without a cause, do not give up. No one knows what tomorrow will bring, and it might be the day you find an answer or read about a major breakthrough.  Believe in yourself and a few select others and move forward. What do you have to lose?

 

I dedicate this story to my sister, Kathy who lives courageously with an undiagnosed illness. There is hope. Like the Forget-Me-Not below, you too will overcome. I got your back, sis. I love you.

 

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

James Lea

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

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

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

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

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

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

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

thermarest

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

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

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

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

 

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

 

 

 

 

 

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

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

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

Jeana Sweeney and her beloved Rylee.

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

 

12 Compelling Reasons I’m Talking About CMT This September

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

 

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

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

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

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

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

 

Sounds a bit narcissistic, don’t you think?

9) But, It Could Be SO Much Worse! 

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

Thank God for small miracles.

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

Country Music Television

Childen’s Musical Theater

Certified Massage Therapist

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

\(ˌ)shär-ˌkō-mə-ˌrē-ˈtüth-\

or

or

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

Carcharias_taurus_teeth (1)

Enough said. Ugh.

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

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

apple

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

 

 

 

 

 

 

 

 

3. Genius!

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

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

They’ll be stunned by your brilliance.

2. Participate! The CMTA makes it fun to celebrate and talk about CMT during CMT awareness month.  We have an entire interactive site dedicated to CMT awareness: https://www.cmtausa.org/community-powered-awareness-month-2018/

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

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

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

 

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

 

It’s CMT Awareness Month! How Much Do You Know About CMT?

CMT Awareness Month Quiz – How Many Will You Get Right?

Last year, I worked on a version of this quiz for CMT Awareness month. I decided to revamp the quiz by adding a few more questions, rephrasing some of the questions and adding detailed answers. I hope you enjoy the quiz and share with others to spread awareness of CMT.

1) If you suspect you have Charcot-Marie-Tooth (CMT) disease, who would you go see?

a) A shark expert

b) A dentist

c) A psychiatrist

d) A neurologist

 

2) What year was CMT discovered?
a) 1836

b) 1886

c) 1942

d) 2010

3) How many people are estimated to have CMT worldwide?

a) 45 million

b) 2.8 billion

c) 150,000

d) 2.8 million

4) CMT is a:

a) blood disease

b) neurological disease

c) infectious disease

d) autoimmune disease

5) What causes CMT?

a) virus

b) the cause is unknown

c) gene mutations

d) parasites

6) Can someone have CMT if neither of their parents has it?

a) Yes

b) No

7) CMT:

a) progresses over time

b) can, in some cases, cause respiratory dysfunction

c) May cause curvature of the spine, or scoliosis

d) Is currently incurable

e) All of the above

f) None of the above

8) CMT affects:

a) the peripheral nerves (nerves outside the brain and spinal cord)

b) the brain & spinal cord

c) the teeth and gums

d) the voice of most Country Music singers

9) Nerve damage caused by CMT can lead to:

a) muscle wasting

b) loss of sensation

c) pain

d) difficulty with balance

e) all of the above

10) Common symptoms of CMT include:

a) drop foot, clumsiness, tripping

b) fatigue

c) difficulty holding grasping objects

d) high-arched feet, hammer toes

e) all of the above

11) This is what a typical CMT foot looks like:
True
False

 

 

 

12) CMT can affect the thenar muscles. Where are the thenar muscles found? 

a) foot

b) hand

c) shoulder

d) thigh

13) Many people with CMT wear braces to:

a) straighten their teeth

b) protect their backs

d) correct foot deformities and foot drop

e) Show off their cool western style

14) The Charcot-Marie-Tooth Association’s overall mission is to what?

a) Feed the hungry

b) Broker world peace

c) Find treatments for CMT

d) Whiten the teeth of the masses

15) This symbol stands for what? 

 

a) Hope

b) Future

C) Treatment

D) All of the above

 

 

 

Answers!! 

1). –  Please see a neurologist. The CMTA has Centers of Excellence around the country who have multi-disciplinary teams specializing in CMT: https://www.cmtausa.org/resource-center/finding-help/cmta-centers-of-excellence/

2) b – In 1886,  Drs. Jean-Martin Charcot, Pierre Marie, and Henry Howard Tooth discovered CMT!

3)  – It is estimated that more than 2.8 million people have CMT, worldwide.

4)– CMT is a disease affecting the nerves which control the muscles ( unlike the muscular dystrophies which directly affect the muscles themselves).

5) c –  CMT is all about genes!

6) a –  CMT can develop as a result of a new mutation or spontaneous mutation. These cases are called “de novo.” A person who has a new mutation case can then pass the condition on to his/her children.

7) – e –  All the statements are true.

8) a – CMT is a group of inherited disorders affecting the peripheral nervous system, a network of motor and sensory nerves connecting the brain and spinal cord (the central nervous system) to the entire human body.

https://www.cmtausa.org/understanding-cmt/what-is-cmt/

 

 

 

 

 

 

 

 

9) e – All the above. Yes, really!

10) e – CMT affects the longer nerves first; therefore, symptoms tend to start in the feet and hands and work their way up the legs and into the forearms, respectively.
Symptoms include, but are not limited to:

• Weakness in the feet, ankles and potentially legs
• Difficulty lifting the foot at the ankle during walking (foot drop)
• Depressed tendon reflexes
• Absence of development or loss of muscle bulk in feet and possibly legs
• Awkward or higher than normal step
• High foot arches (pes cavus)
• Curled toes
• Calluses and blisters on the feet
• Frequent tripping or falling
• Decreased ability to run
• Decreased sensation or a loss of feeling in feet and potentially up the legs
• Discomfort/pain in the feet
• Frequent twisting of the ankles
• Muscle cramping, especially in feet and lower legs
• Weakness in fingers and hands
• Decreased fine motor control
• Difficulty with fine motor tasks, such as using buttons and zippers
• Difficulty opening jars
• Decreased grip endurance
• Absence of development or loss of muscle bulk in hands and forearms
• Curling fingers
• Decreased sensation or loss of feeling in hands and potentially up the arms
• Tremor
• Overall fatigue
• Joint and/or nerve pain
• Hearing loss
• Breathing difficulties
• Sleep apnea
• Scoliosis (curved spine)
• Kyphosis (round back)

11)  True. CMT feet have very high arches and hammer toes, though some people with CMT can also have flat feet.

12 e –  The Hand!

 

 

 

 

 

13. d – Leg braces or AFOs (Ankle-Foot Orthoses) help with muscle weakness, muscle atrophy, foot drop and

balance. 

 

 

 

 

 

14)  The CMTA’s mission is to….. support the development of new
drugs to treat CMT, to improve the quality of life for
people with CMT, and, ultimately, to find a cure.

Our vision … a world without CMT.

15) – d  – All the Above!

STAR  oe Strategy to Accelerate Research is the CMTA’s research initiative created with one goal in mind – to find treatments to slow, stop or reverse the progression of CMT.  Learn more  here: https://www.cmtausa.org/research/our-star-strategy/

 

Let me know how many questions you got right! Got questions? Leave them in your comments!

 

SHARE with others. Teach family, friends, and colleagues about CMT during CMT Awareness Month!

 

Break the Silence: CMT Stories and Events

ARE YOU READY?

 

 

 

 

 

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

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

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

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

 

 

 

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

 

 

After-Party

Event After-Party

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

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

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

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

CMT Experts – Drs. Scherer and Shy
Yohan and his Grandmother, Bev
The Love of an uncle for his nephew. Family is everything.

 

Our Fabulous Band
Walk 4 CMT!!

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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

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

 

 

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

Public Loo Etiquette: Based on True Stories

 

Have you ever wondered why public bathrooms are called restrooms? There is no rest to be had in any public restroom, just stress, fear, and anxiety. Listen, if I want to rest, I’ll just stay home and lie on the couch or go to bed.  Why in the world would anyone want to rest in a room with a toilet shared by many, many people, strangers even, most of whom have poor hygiene, disregard for others, perverted tendencies or diseases, just to name a few.

Those paper barriers used to protect my buttocks from others’ residue? FAIL! They never work for me. Great concept, poor design.

 

toilet-seat-covers_c3t6s0

 

Before sitting down on a foreign toilet seat, I usually grab a paper seat protector and one of 3 things happens:

  • As I pull it out of the container, it rips in half, and I have to work at figuring out how to best place the two halves on the seat without actually touching it.
  • I place it on the horseshoe-shaped potty and right when I am about to sit down, whooooooooosh, it flies off the seat and lands on the floor. At that point, it is much too late to stop my downward sitting motion; my bare ass comes into uncomfortable contact with the grimy seat, and I feel deeply disgusted with myself and others.
  • I get the protector in place, plop down and realize there were drops of liquid on the seat, which immediately seeped through the paper. Once again, I  find myself sitting on the bare porcelain, questioning the mystery substance – Water? Urine? Other fowl liquid? No clue, but when I am done, I stand up, only to have the seat protector stuck to my bottom, in a last ditch effort to come home with me.

 

After dinner in a fine restaurant one evening, I had to use the facilities. Protector in place, I sit down and discover that the toilet seat is warm….really warm, as if someone had actually camped out there for a good chunk of time. Ewwwwwwwwwwwwwwwwwwwwwwwwwwwwwwwwwwww!

japanese-toilet-1

Trying to chase the disturbing thoughts about why someone would sit there for an hour or so before moving on, I sensed a subtle vibration on my flesh. What the heck?  And it came to me! I was sitting on one of those Japanese toilets that cleans, washes, dries, hydrates, plays music, massages and sends messages to your friends and family. This contraption had the capacity to do everything but pee for me!

Recently at the airport, I was delighted to see an automated plastic version of the paper seat protectors. Yessssss!!! Someone’s been thinking! Relaxed, I sit down, do what I gotta do and stand back up. Just when I’m about to try and figure out how to leave a new, fresh cover for the next water-logged person,  I noticed the instructions. First, swipe hand over the sensor to change the soiled plastic cover. Second, simply sit on fresh, hygienic germ-free plastic!   Fuck my life. I could not get this straight if my existence depended on it.

Tanzania, 2005. I’ve never been so stressed out in a “restroom.” Me, Gilles, Yohan and 2 male guides were out on a safari for a week. During the day, they would make several stops, all disappearing behind the car for a brief moment before hopping back in to continue the journey. Within a minute or 2, someone would spot a wild animal. “Look at the lion in the tree!” Yohan shouted gleefully. Sure enough, high on a branch, a lion would be peering at us hungrily.

166569_10150155043292995_2288587_n

Tanzania, 2000

Having drunk a LOT of water one morning, my bladder was about to burst. I could not hold it any longer!  “Can we stop to pee?” I asked the driver sheepishly? The guides looked concerned. Mumbling something to each other in Swahili, the driver’s assistant flashed me an open hand with 5 fingers. “Gilles, I whispered. Does that mean 5 minutes or is that their way of telling me to stop talking and shut my mouth?

The jeep came to a sudden halt and in the distance, 500 feet away, was an outhouse. Thank God! About to open the door, our guide yelled, “WAIT LADY!!”  He made rounds with his fingers, put them up to his eyes explaining he first had to look around with binoculars to make sure the coast was clear……of lions!

He’s kidding, right?

“Lady!!” He shouted. “Come! Come Quickly!”  My fierce family stayed in the safe vehicle while I  stumbled among the brush toward the empty outhouse. My guide guarding the building, I hurriedly stepped inside to find a hole with massive African flies swarming by the hundreds. On the positive side, I had not to worry about the paper toilet covers, squirting toilets or anything else. My one and only job was to pee and get back to safety.

Ever try to urinate squatting over a fly-infested hole, with no railings, no toilet paper, no nothing…..but a knife-carrying safari guide who wants nothing else but to get the hell out of there? The more he screamed, “Quickly. Quickly!” the longer it took. The stream would just altogether stop even though my bladder was still full to the brim. Worse yet, my quads ached, trembled and protested as I willed the liquid to leave my body. I would have leaned on my elbows more, but one arm was always in the air, swatting the indestructible tsetse flies. After what seemed like an eternity, I was empty. Guided at a very quick pace back to the jeep, we got out of there as quickly as possible.

Image result for tsetse flies

2 short minutes later, Yohan, AKA Mr. Eagle Eyes, excitedly spied a hyena munching on some sort of putrid bone. That could have been my own arm, most likely my humerus, I thought.

Hyena-Main

There are only two logical solutions to the above dilemmas:

  • Stay home. Going out is overrated.
  • Purchase a Disposable Female Urinal Funnel Device and have them on hand 24/7. They come in handy on a safari and allow you to fit in with the other guys on the trip! No more special stops!

product-image-721963482_1024x1024

Next on Best Foot 4 Ward blog: The Toilet Paper Tragedies:

.

 

The Ask: Fundraising Tips!

Idling outside a business in Charlotte, VT, I glance at my brother who is skimming his notes, “Owner’s first name is Phil. Started the company in 1984. My friend, Tina knows Phil’s wife, Patty because their kids ride horses. Got it. ” Then turning to me, with a smirk, he reminds me of my role, “Okay, Let’s go. Remember, you look around the store and buy something, and when you are ready to make your purchase, find me and I’ll introduce you to the person in charge.”  And off we go – Chris with his Cycle 4 CMT flyers and his iPad, and me with my credit card.

 

Chris with chef, Maura O’Sullivan, at Penny Cluse Cafe  – a proud sponsor of the VT Cycle 4 CMT event!

Entering the store, Chris will ask for “Phil” while I  start browsing. Chris does his thing, I do mine and he usually walks away with a sponsorship for the Cycle 4 CMT event. And me? I get in the car with a new shirt, a few gifts, and other amazing VT products, like Maple Syrup (If you don’t like maple, you might as well skip the trip to Vermont-and just give a donation. Everything, and I mean everything has maple in it.)

On a more serious note, asking for charitable contributions, even for a great cause like the CMTA, can feel scary and awkward, but if you are genuinely interested in people and truly believe in your cause, success is definitely attainable.   I’ve asked for a lot of donations over the past 15 years for the CMTA, but watching Chris in action raised has my fundraising IQ considerably. Here are a few takeaways:

 

The More You Know – Chris always does his research before walking into a store or business. He finds the owners’ names, reads about their backgrounds and tries to find a common link, interest, or point of contact. This commonality, once discovered, will definitely make the discussion and ensuing conversation flow more easily.

Description –  Keep it short, make it personal. After finding the key person, who might initially be a bit guarded (as would anyone when approached by 2 determined strangers on a mission), Chris makes and keeps eye contact when explaining the details of the upcoming event: 5th annual Cycle 4 CMT. Nephew has CMT or Charcot-Marie-Tooth, not Country Music Television. A disease that attacks the nerves. Loss of function of the hands, arms, feet, and legs. The event has raised a lot of money for CMT research, our sponsor list is growing every year. Then, he usually shows the person the event website, the list of donors and a few pictures of Yohan). Pictures are worth a thousand words.

Yohan and Uncle Chris

The Story –-As an avid cyclist, skier, hiker born and raised in VT, Chris professes, “I often wish I could spend a day skiing or cycling with Yohan. He used to snowboard, but that ended when he developed CMT-related back problems and his feet, so deformed, could no longer fit in a ski boot.” Remembering the disappointment, I too start to choke up. He continues, ” I wanted to help him, but how? And then it came to me – Why not put on a CMTA fundraiser in support of CMT research, connecting the passion and energy that Vermonters possess for outdoor activities? As a result, the Cycle 4 CMT was born in the summer of 2014.

Empowerment – Chris’ delivery is moving and heartfelt. He speaks with conviction and confidence, empowering others to be part of the movement to end CMT. And it works. Why? People feel a connection to Chris’s story, to Yohan’s journey and to our determination to raise the critical funds needed to get us to clinical trials.  Feeling our great sense of urgency, people want to take action and get involved in something bigger than themselves. Ultimately, giving back unleashes opportunity. potential and a powerful force of good in the world.

 

DSC_82183rd Annual Cycle 4 CMT 2016 Kevin
Kevin is more than a hero – he’s a superhero!

 

Thank You – You can never say it enough. We appreciate everyone involved with the Cycle (and Walk!) 4 CMT event, from sponsors to participants, and donors to volunteers. You are our heroes. It takes a lot of compassionate, kind, generous people to bring about change in the world and we are fortunate to have you by our side, fighting the CMT battle. Your involvement and consideration also provides promise and hope to the Yohans of the world who are deeply moved by the fact that you genuinely care.

 

So, when you approach someone for a donation, be confident and tell your story from the heart. What’s the worst that can happen? For diverse reasons, you may get a “no, thanks.” That’s okay. Don’t take it personally. Just know that you have succeeded in informing one more person about CMT.

 

Now, you have a few fundraising tools, so start a walk, a cycle, a sit-a-thon – whatever. Or, if you can’t do it this year, give to the Cycle 4 CMT.  If you cannot make it, we came up with a new feature: the VIRTUAL walk or Cycle.  Now anyone, anywhere can take part in the Cycle (and Walk!) 4 CMT. For more info: www.cycle4cmt.com.

 

PS: Just an FYI-This year, Chris joined in on the shopping spree. He ended up buying this top from one of our new sponsors – AJ’s Ski and Sports!! : I love visiting our sponsors!

The ASK – An Unbelievably True Story about CMT

 

 

 

 

 

Idling outside a business in Charlotte, VT, I glance at my brother who is skimming his notes, “Owner’s first name is Phil. Started the company in 1984. My friend, Tina knows Phil’s wife, Patty because their kids ride horses. Got it. ” Then turning to me, with a smirk, he reminds me of my role, “Okay, Let’s go. Remember, you look around the store and buy something, and when you are ready to make your purchase, find me and I’ll introduce you to the person in charge.”  And off we go – Chris with his Cycle 4 CMT flyers and his iPad, and me with my credit card.

 

Chris with chef, Maura O’Sullivan, at Penny Cluse Cafe  – a proud sponsor of the VT Cycle 4 CMT event!

 

Entering the store, Chris will ask for “Phil” while I  start browsing. Chris does his thing, I do mine and he usually walks away with a sponsorship for the Cycle 4 CMT event. And me? I get in the car with a new shirt, a few gifts, and other amazing VT products, like Maple Syrup (If you don’t like maple, you might as well skip the trip to Vermont-and just give a donation. Everything, and I mean everything has maple in it.)

On a more serious note, asking for charitable contributions, even for a great cause like the CMTA, can feel scary and awkward, but if you are genuinely interested in people and truly believe in your cause, success is definitely attainable.   I’ve asked for a lot of donations over the past 15 years for the CMTA, but watching Chris in action raised has my fundraising IQ considerably. Here are a few takeaways:

 

The More You Know – Chris always does his research before walking into a store or business. He finds the owners’ names, reads about their backgrounds and tries to find a common link, interest, or point of contact. This commonality, once discovered, will definitely make the discussion and ensuing conversation flow more easily.

Description –  Keep it short, make it personal. After finding the key person, who might initially be a bit guarded (as would anyone when approached by 2 determined strangers on a mission), Chris makes and keeps eye contact when explaining the details of the upcoming event: 5th annual Cycle 4 CMT. Nephew has CMT or Charcot-Marie-Tooth, not Country Music Television. A disease that attacks the nerves. Loss of function of the hands, arms, feet, and legs. The event has raised a lot of money for CMT research, our sponsor list is growing every year. Then, he usually shows the person the event website, the list of donors and a few pictures of Yohan). Pictures are worth a thousand words.

Yohan and Uncle Chris

The Story –-As an avid cyclist, skier, hiker born and raised in VT, Chris professes, “I often wish I could spend a day skiing or cycling with Yohan. He used to snowboard, but that ended when he developed CMT-related back problems and his feet, so deformed, could no longer fit in a ski boot.” Remembering the disappointment, I too start to choke up. He continues, ” I wanted to help him, but how? And then it came to me – Why not put on a CMTA fundraiser in support of CMT research, connecting the passion and energy that Vermonters possess for outdoor activities? As a result, the Cycle 4 CMT was born in the summer of 2014.

Empowerment – Chris’ delivery is moving and heartfelt. He speaks with conviction and confidence, empowering others to be part of the movement to end CMT. And it works. Why? People feel a connection to Chris’s story, to Yohan’s journey and to our determination to raise the critical funds needed to get us to clinical trials.  Feeling our great sense of urgency, people want to take action and get involved in something bigger than themselves. Ultimately, giving back unleashes opportunity. potential and a powerful force of good in the world.

 

DSC_82183rd Annual Cycle 4 CMT 2016 Kevin
Kevin is more than a hero – he’s a superhero!

 

Thank You – You can never say it enough. We appreciate everyone involved with the Cycle (and Walk!) 4 CMT event, from sponsors to participants, and donors to volunteers. You are our heroes. It takes a lot of compassionate, kind, generous people to bring about change in the world and we are fortunate to have you by our side, fighting the CMT battle. Your involvement and consideration also provides promise and hope to the Yohans of the world who are deeply moved by the fact that you genuinely care.

 

So, when you approach someone for a donation, be confident and tell your story from the heart. What’s the worst that can happen? For diverse reasons, you may get a “no, thanks.” That’s okay. Don’t take it personally. Just know that you have succeeded in informing one more person about CMT.

 

Now, you have a few fundraising tools, so start a walk, a cycle, a sit-a-thon – whatever. Or, if you can’t do it this year, give to the Cycle 4 CMT.  If you cannot make it, we came up with a new feature: the VIRTUAL walk or Cycle.  Now anyone, anywhere can take part in the Cycle (and Walk!) 4 CMT. For more info: www.cycle4cmt.com.

 

PS: Just an FYI-This year, Chris joined in on the shopping spree. He ended up buying this top from one of our new sponsors – AJ’s Ski and Sports!! : I love visiting our sponsors!