Yohan and I had so much fun trail riding when we were younger. Oh, the stories we could tell!! I’ll never forget the time I stepped in a bee’s nest and ran for my life with Yohan on my back! He held on to my mane and stayed on. Phew! Close call!
When my friend got a little older, he rode me less and less. I thought it was my fault. Did I eat too much? Was he embarrassed about my being just a tad shorter than a real horse? Was I too messy? One day, we had a heart-to-heart. He explaining that he had CMT. At first, I was excited – Country Music Television? Yee-Haw! He’ls going to be famous – a Country Music Star! Nashville anyone? I was dreaming of lights, camera, pampering! I might even be on TV!
My enthusiasm was short lived when he explained that CMT stands for Charcot-Marie-Tooth disease – a progressive nerve disease that affects his hands, feet, legs, spine and balance. He just could not ride me anymore, and we were both very sad. But, he did right by me, kept me in his family and today I have the best life ever at the Horse Park in Woodside.
Yohan sees me every time he’s home from school and I want to celebrate his kindness, understanding and compassion. His CMT makes his nerves deteriorate and his muscles weak. He looks so happy all the time, but I know that deep down, he’s worried about what the future will bring.
My birthday is on March 9. My buddy, Yohan and I are turning 26 years old. Besides a stiff leg and a couple of pigeon fever bumps on my chest, I’m doing pretty well for an old guy. Yohan took really good care of me for a very long time. His CMT got in the way of his riding, but we are still best of friends. Now, Yohan’s mom rides me once in a while and she and her friends pamper and play with me. Life could not be better!
Over the years, I’ve learned a lot from my human and equine counterparts who have attempted to shape my behavior and teach me proper manners. Here are a few takeaways tidbits I hope you find useful:
Maturity is overrated! Play, have fun and don’t shy away from a little dirt. Messiness has its perks, people. Since it rains so little in California, I love rolling in puddles on the freshly rain-soaked ground. Who doesn’t like a mud bath? Lounging on my back feels soooooo good, especially since I don’t have the means to get a professional back massage. What feels better than a good roll in the mud (and so much better than a roll in the hay-hahaha)?
Most humans just look at me and shake their heads. They might think “Athos should have been born a pig!” Say what they may, lying on my back moving to and fro takes the “itchies” away and fends off those pesky flies.
Better yet, when Elizabeth sees me in such a sad state (she says sad but mud makes me happy!) I get another rub down as she brushes my coat, untangles the knots in my mane and removes the stubborn cakes of mud stuck to my tail. Once she leaves, it takes me about 5 minutes to get all dirty again. Live and let live! Life is too short to worry about a few stains.
The Carrot is Mightier than the Stick! Over the years, I’ve had a lot of owners and a lot of riders, all with new and innovative ways to make me “behave”. Looking back, I must tell you that positive reinforcement is much more powerful than punishment, which fills me with fear and uncertainty. In all honesty, I live for praise (and treats) and a soft pat on my neck (and a few more treats). In fact, my favorite lessons include a clicker, praise and ….you got it – treats. I’ll do almost ANYTHING for a carrot (low-sugar snacks work just as well). If you’re around my forever home at the Horse Park in Woodside, bring a couple of carrots! I’ll show you all my silly stunts….you don’t even have to ask!
Everyone is on Some Sort of Spectrum – I never made it to horse size. I fall a wee bit short, and everybody points it out. Whatever.
I’m vertically challenged (short), horizontally challenged (on the heavy side, especially after the spring grasses), and move with a “gimp” (a word used by a vet to describe my walk, which I find horribly offensive) due to a past injury. I’ve learned to love myself deeply despite my apparent “flaws”. In fact, the more I love myself, the more others embrace me.
Children are my favorite riders, especially as I get a little older. They are light, trusting and gracious. When kids are around, I’m groomed, spoiled, led around an arena 2-3 times and everyone’s happy- no long trail rides or boring arena lessons. They love me unconditionally, cellulite and all!
Respect is Earned – In the horse world, there are tons of complicated hierarchy rules. The bottom line is that I have little clout, so I have figured out how to survive by being kind to all creatures big and small. Another technique is to find intimidating friends.
In the end, if other horses do not like me, that’s their problem. I just stay away – their loss.
Recently, I had to be isolated in a stall for a ridiculous amount of time. I was so lonely. When I went back to my “family,” my rank and mere presence had to be renegotiated. After being bossed around for a day, I decided to put an end to the nonsense. Stomping my hooves, standing my ground and vocalizing my frustration were the only way I got everyone to respect me. So, only put up with so much before setting boundaries! Everything is hunky-dory now.
Knowledge is Power – I am a flight animal by nature, so I am exceptionally keyed into my herd’s anxiety and the fear people carry in their hearts and soul. I’ve been told that many fancy pancy horses jump obstacles in the field, only to run like the wind to leap over another jump as fast as “horsely” possible.
Whoever invented that stupid sport? Personally, I’m baffled at why any horse would want to expend the energy to compete anywhere, anytime…….period! I bet they don’t even get a treat after they jump. Geez. Way too stressful and exhausting, in my humble opinion.
So if I’m on the cross country course and a seriously focused horse and rider gallop on by in the opposite direction, you can bet your bottom dollar that I’m following the fleeing horse. I’m not going to be the idiot who gets eaten by real or invisible monsters – no, not me! I may be short and chubby, but I’m no dummy!
But, the best rides are relaxing and scare-free. On weekends, I take walks with my pasture friends, Bailey, Szcarlet and my sister, Chyna. I love those rides, even though, Szcarlet has made it perfectly clear that she doesn’t care for me all that much. Girls are a mystery to me.
I must say that she is truly beautiful AND she has papers, a lineage, a noble family – the works. But, if I so much as look in her direction, with even the briefest of sideways glances, she chases me away. In fact, she’s always been pretty up front and blunt about her feelings towards me (she has none).
How do I handle her attitude? I do what I know how to do best – annoy her. When she’s in front of me on the trails, I stretch my neck out as far as possible and try to give her a love bite on her behind. If I don’t watch it, I’m going to get kicked in the face. Has not happened yet, but one day I might be sorry!
Hey, I never said I was perfect!
I have more words of wisdom, but all for now. I have grass to eat and mud to roll in. If you can relate to any of the above or have any questions for me, please feel free to ask. I love helping horses and humans alike.
PS: My friend Micaela snapped the Featured Image of me. We were playing Peek-A-Boo!
“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!”
Gilles and Pete got to know each for about an hour before we left for Spain. Upon our return, Pete told me in no uncertain terms – “Liz baby, Liz baby, baby, baby, Liz baby – I like that French guy, Gilles. Don’t mess this one up…….because if you don’t end up marrying him…..I will!” he laughed.
Years later, after Yohan had been diagnosed with CMT, Pete stopped by to see us during one of my many summer trips back home. Pete had news. His mother was in a nursing home and had just been diagnosed with CMT (Charcot-Marie-Tooth disease). “No way!” I responded. What are the chances? I wondered if he had CMT, too…??
Click Here to hear Pete Akey tell his CMT story – You’ll laugh – I promise:
Yohan and I could not wait to take a look at his feet. As he removed his socks and rolled up his pant legs, Yohan and I looked at each other and said-“Yep, looks like CMT to us!” Pete had lost his hair from the ankles down (he wore socks to bed), had mildly curled toes, chronically cold feet and loss of sensation. Apparently, his brother also had symptoms, more severe than his own.
Pete went to see Dr. Shy who was in Detroit at the time and received confirmation of CMT 2!
I thought this was the biggest coincidence of a lifetime….until I started meeting others whose friends or family members had been diagnosed with CMT.
-The owner of the VT company who makes our Cycle 4 CMT swag told us his brother-in law had CMT but he never talked about it.
-My good friend and long-time neighbor, Sara Jane, has a friend whose husband’s father and children have CMT.
-My dearest friend Shirley has a 90-year-old friend with CMT.
-My friend and colleague, Jeana Sweeney has CMT as does her husband’s twin brother’s wife’s father (Jeana’s sister-in-law’s father- no blood relationship) and his extended family all have CMT.
-Later, we found out that the wife of one of our very good French friends had a family history of CMT.
-Just last summer, I was walking around the downtown area of Burlington when I stumbled upon a man with “the walk.” Before passing him on the sidewalk, I’d noticed his leg braces, the walking poles, the hand contractures. Still on a high from the VT Cycle 4 CMT event the previous day, I just could not help myself.
“Hi! Sorry to bother you….ummmm, just noticed your leg braces and was wondering if you have Ceee Emmm Teee?” I enunciated in an obnoxiously loud voice. You know, Charcot-Marie-Tooth disease, like my son, Yohan…….blah, blah, blah.” No where to turn, Bill tried to look away. In fact, the more he ignored me, the louder I spoke. What can I say – I have a big mouth and I’m passionate about this cause! In retrospect, Bill was probably a little scared inside, wondering if I was having a manic episode or needed psychiatric care.
After a bit of conversation, I learned that the doctors had never really given him a definitive diagnosis, but he confided that he had a progressive peripheral neuropathy and his son had very similar symptoms. I sent him a lot of CMT information and we still keep in touch. He’s the nicest guy ever and I’m glad I decided to stalk him……I mean, strike up a conversation with him.
Is CMT a rare disease? Technically, yes. A rare disease in the US is defined as a condition that affects fewer than 200,000 people. CMT purportedly affect 120,000 Americans.
If this is true, CMT is definitely the most common rare disease no one has ever heard of.
But, if I had to bet, I would say it is MUCH more common that the current, but very outdated statistics of 1 in 2,500 people worldwide reveal. With lower cost genetic testing, increased awareness efforts, and many more people connecting and talking on social media platforms, it seems as if the numbers of people diagnosed with CMT have increased dramatically.
The good news? Researchers, pharma and biotech companies have shown an increased interest in understanding and finding a treatment for CMT. Technologies that seemed light years away (axon degeneration, CRISPR, gene therapy) are now ready for prime time. It’s such an exciting time and the CMTA is leading the charge! Learn more here: https://www.cmtausa.org/research/star-gene-therapy/
So, what about you? Got a CMT story to tell? If so, write it in the comment section. I’d love to hear more serendipitous stories of chance encounters!
First signs include frequent tripping, toe-walking (children) , frequent tripping, ankle sprains, clumsiness and “burning” or pins-and-needles sensations in the feet or hands.
Structural foot deformities such as high arches and hammertoes are common. Some people present with flat feet.
Muscle wasting in the lower legs and feet may lead to foot drop, poor balance and other gait problems.
Muscular atrophy in the hands often causes people to have difficulty with tasks involving manual dexterity, such as writing and manipulating zippers and buttons.
Abnormal sensation in the extremities and an inability to sense where one’s body is in space are also common, and many people experience neuropathy, muscle or joint pain.
Poor tolerance for cool or cold temperatures is typical and many people have chronically cold hands and feet.
Additional symptoms may include hand contractures, tremor, knee dislocation, cramps, atrophy of muscle located between the thumb and forefinger (thenar muscles) , chronic fatigue, sleep apnea, breathing difficulties, swallowing difficulties, absent or reduced reflexes, poor proprioception, poor circulation, scoliosis, kyphosis and hearing loss.
Psychosocial Effects – psychosocial impact of having CMT can be quite devastating, leading to irritability, depression, anxiety, sadness, isolation, loss of pleasure, weight gain or loss, hopelessness, worthlessness, guilt, thoughts of death or suicide attempts. Please speak with your doctor…..
A CMT diagnosis involves clinical evaluation of muscle function and atrophy, testing of sensory responses, and electromyographic and nerve conduction studies. Many types of CMT can also be diagnosed by genetic testing.
Additional symptoms may include hand contractures, tremor, knee dislocation, cramps, atrophy of muscle located between the thumb and forefinger (thenar muscles) , chronic fatigue, sleep apnea, breathing difficulties, swallowing difficulties, absent or reduced reflexes, poor proprioception, poor circulation, scoliosis, kyphosis and hearing loss.
The psychological impact of having CMT can be quite devastating, leading to irritability, depression, anxiety, sadness, isolation, loss of pleasure, weight gain or loss, hopelessness, worthlessness, guilt, thoughts of death or suicide attempts. Please speak with your doctor…..
A CMT diagnosis involves clinical evaluation of muscle function and atrophy, testing of sensory responses, and electromyographic and nerve conduction studies. Many types of CMT can also be diagnosed by genetic testing.
I walked into the ice cream store, craving a scoop of malted milk ball deliciousness – in a waffle cone, of course. As the only bona fide paying customer in the shop, I expected quick and efficient service, but the middle-aged man freaking out about his lost credit card was getting allthe attention.
The employee sporting blue-tipped hair and wearing a nose ring was all taken up with the anxiety-stricken fellow who had a zillion and one questions about their lost credit card policy. “Just cancel the card and get a new one.” I thought impatiently. “Duh.”
The second employee, a young man with very thick glasses and wavy hair appeared on the scene, licking his lips and wiping them on his sleeve. I wondered which flavor he was “taste-testing” in the back room. Ready to order, he glanced in my direction and then walked right past me, mesmerized by the credit card debacle. “OMG. Really?” I muttered to myself.
Boring holes in the back of his head with my intense stare for what seemed like 10 minutes, he finally took an interest in me. After ringing up my purchase, he announced, “That will be $3.25” as he turned the iPad screen in my direction. “Just swipe your card and sign after you choose the tip amount.”
What in the heck did he do to receive a tip? He spent 15 seconds putting 1 tiny blob of ice cream in a cone. Did doing his job, albeit poorly, deserve a tip?
Feeling annoyed by the pressure to give him more money, I chose the “No Tip” option. Not this time, buddy.
“Card declined.” he said with a smirk. The second swipe did the trick, so he swiveled the Ipad back toward me and once again had the audacity to ask me to choose the tip amount and sign.
At this point, 3 more customers had entered the shop, and were waiting to be served. They has listened to the entire exchange. So, guess what I did? I caved. I freaking caved and I’m not proud of it. Why? I just wanted the anxiety and pressure to go away. I wanted to eat my cone in peace and quiet. I wanted everyone to just leave me be.
Tipping seems to be getting more and more complicated and confusing. In restaurants, I usually tip the waiter, knowing he/she counts on tips to make a decent wage. I’m good with that.
But, what about hair dressers, baristas, masseuses, Uber drivers, postal workers, valet attendants, bellhops, dog walkers, tour guides, ice cream scoopers, etc…. Am I expected to spend any and all extra cash on employees in the different service industries? And the pressure mounts each and every day to tip. Those Ipads with boxes for tip amounts are the worst. While the cashier and everyone in line stares at you, a monetary decision needs to be made. No time for hesitation or indecisiveness.
Along the same lines, every time I make purchases in certain stores, I am publicly asked for charitable donations.
Last week, I went into Whole Foods to buy groceries for the holidays. Upon check-out, the cashier asked me if I’d like to give a donation to XYZ charity. I was prepared. I knew the question was coming and I had an answer – “No” I say a bit too forcefully. And then more mildly, “No thank you.” The pride lasts for a nanosecond and soon thereafter, I make my exit, feeling sheepish, cheap and uncaring.
Watch this short South Park clip for a laugh:
How about pet stores? Purchasing catnip, I slide my credit card and the screen makes me answer “Yes” or “No” to the following question – “Do you want to save abandoned dogs and cats?”
What kind of question is that?
Of course I want to save abandoned dogs and cats. I want to save all homeless animals, everywhere! I like animals more than most humans, but the guilt-trip is too much!!
At Safeway, I came across the same type of question, “Would you like to feed the starving children?
Ummmm – Of course not. I want all starving children to die of hunger. Soon.
Really? The more I read, the less I appreciate the fundraising tactics used by many charities.
I love ice cream, I adore animals and I do not want anyone to die of hunger, but I do not have an infinite source of cash on hand and need to choose wisely. If I gave a donation or a tip to every person who asked, I’d need to set up a Go Fund Me page to pay for my everyday expenses or risk ending up homeless, hungry and lonely as I’d have to give up my cherished cat…..how could I possibly afford to feed her the 4 cans of cat food she devours daily? Seems at odds with the original concept.
Ultimately, it’s important to be able to say “No, thank you” without feeling guilt, remorse or awkwardness. One of my mentors who I deeply admire used to tell me, ” What other people think of me is none of my business.” He’s right. I do not have to explain my decision making to others and most people probably don’t care if I give a $1 dollar tip or $5 dollars to charity. What’s important is that I do care about others and I do what I can to make a positive difference in the world. I do not need to explain myself ( even though I did just that in this blog post).
Now, I have a question for you. Would you like to help put an end to a progressive neuromuscular disease that affects 2.8 million people worldwide (including my son), causing muscle atrophy, loss of sensation, drop foot, nerve damage, etc, etc, etc? If you answered no, I just have to ask you, “What in the world is the matter with you? Don’t you care about people with disabilities?”
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.
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.
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.
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 ……
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.
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.
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.
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.
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.
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
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.
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.
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.
The work the CMTA is doing right now on all fronts is nothing short of impressive. Please get involved!
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.
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!
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.
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.
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.
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!
Next on Best Foot 4 Ward blog: The Toilet Paper Tragedies:
Last week, I purchased a top-of-the-line 4K LED Smart TV with enough options to bedazzle even the most technologically gifted. Some of the features were intuitive enough that I proudly disregarded the instruction manual altogether. To my dismay, I soon discovered that a good number of even the simplest functions were complicated, puzzling and downright impossible to comprehend even with the handy user’s manual.
New Toy – LED TV
Realizing my dependence on this pamphlet of how-tos, I reflected upon all the parenting guides I have purchased over the years, all dealing with every different aspect of the child imaginable: the terrible twos, sleeplessness, anxiety, positive discipline, the emotional lives of boys, tolerating teens, etc The one book I have yet to come across is called the “THE MANUAL: Raising Kids With An Unexpected Diagnosis (Like CMT, a Progressive Nerve Disease).”
My instruction booklet was not included in my take-home packet from the hospital when Yohan was born 25 years ago, and I still fantasize about getting my hands on a copy of this yet non-existent source of knowledge.
Initially, I learned to care for my bundle of joy by asking questions, reading a selective few of those parenting books I mentioned above, taking advice from others (even if unsolicited) and relied heavily on my own maternal instincts. Through trial and error, my husband and I, as do most parents, strove to raise and nurture our child to be a resilient human being, who would hopefully be happy, successful, compassionate, friendly, confident, etc….. None of these attributes are ever guaranteed, but parents can and do influence their children to a very large degree by modeling behaviors and values, including empathic listening, acceptance of the whole child, unconditional love, acceptance and positive discipline.
Born with unique dispositions and temperaments, every child will integrate what he or she witnesses, observes and experiences to form a personality, which is in a state of constant flux, molding to and shaped by the surrounding environment. Raising children is truly a humbling adventure, where perfecting parental skills comes through valiant efforts on the part of the father and/or mother to do the best they can at any given moment.
And just to keep us on our toes, life has this nasty habit of throwing wrenches into our well thought-out and admirable plans and dreams, forcing us to change directions or reroute our individual and family’s journey throughout life over and over again.
For instance, when parents are told that their apparently healthy and precious child has a progressive neurological disease called CMT, (or any other chronic illness or disability) the world as they knew it comes to an abrupt halt. For a while, time just seems to stop as the shock of reality works its way through to the senses. With no current treatment or cure, CMT is a group of diseases whose effects vary greatly from one person to the next, even among members of the same family. The fear of an uncertain future for our beloved child creates a chaos so disruptive, parents may inevitably experience and re-experience a whole gamut of different feelings anywhere from grief, rage, disbelief, depression, anxiety, sadness, hopelessness, to guilt and disappointment. This flurry of unyielding and varied sets of emotions is unequivocally normal and expected in the face of such devastating and unwelcome news.
We immediately wonder what this diagnosis means for our child’s future – will she be able to play the piano, have children and fulfill her dreams as an actress? Will his legs remain strong, what about his basketball career, and just how much will my son be affected? Will he/she become more or less disabled than me, than my mother, than other family members? As concerned parents, we all have a tendency to get ahead of ourselves by asking a million questions about the fate of our children by continuously wondering and inquiring about what the future has in store, trying to predict what cannot be foreseen.
To top it off, in the midst of this traumatic news, unsettled parents must return home to their children, bearing the intolerable news that will inevitably change the lives of every single member of that particular family. How hard it is to remain calm, in control and at ease after you’ve been hit with the CMT hammer! In these delicate situations, let’s not forget that children are savvy readers of parental anxiety, tension, and stress. They are inexorably influenced by our attitudes, opinions, and expressions as they learn a great deal about themselves by watching, listening and absorbing all the subtle messages left behind in conversations to be had both in public and in private. They definitely do not wish to see us devastated by their disease (even if we are) and need most of all to be comforted, supported and understood.
So, when a parent unintentionally acts out his or her intense sadness, despair and anxiety in front of their children, the child is sure to take it all in, every bit of it. If our children receive messages confirming that their own situation is hopeless and the future bleak, he or she will surely feel out of control and helpless in the face of upcoming and ongoing adversity. However, if our kids are met with reassurance and optimism, they will be more likely to cope adequately, if not conquer the intermittent hurdles that are bound to appear throughout their lives. So, the quicker we as parents learn to “deal effectively” with the challenges presented by CMT, the quicker our children will build the necessary coping skills and resilience to live well despite this disease.
Let me qualify the expression “dealing effectively with CMT” as an extremely subjective experience, which takes on a different meaning for each and every one of us. Coming to terms with your child’s progressive disease and limitations takes a lot of time and energy, and as you already know, this does not happen overnight, if ever at all.
There are still moments when I am angry at this disease and obstinately think of Yohan’s CMT to be the ultimate definition of unfair lots in life, followed by a pathetic, “Why me?”, “Why him?”, “Why us?” I usually manage to calm down by focusing on what he can do, by living in the present moment and by appreciating the gifts of today. I also fervently practice replacing my negative and catastrophic thoughts with a more positive and realistic perspective which encompasses a broader, less self-centered approach to challenging situations.
The brutal reality is that I cannot control his disease or make it go away. However, we as parents are far from powerless and impotent. On the contrary, by sharing an unwavering hope for the future, role modeling coping mechanisms such as humor, optimism, faith while remaining connected to others for support, we are fostering resiliency and courage in our children, traits on which they will rely heavily today, tomorrow and the days to come.
Let me reiterate that as parents, we have the capacity to guide and support our children, despite the absence of that darn manual. There are always silver linings to all black clouds, you may just have to look for them. Hurdles and stumbling blocks exist to a greater or lesser extent in everyone’s life and many times, these challenges will bring families closer together or even offer a deeper, more meaningful purpose to life itself. Whatever afflicts us or our loved ones and no matter how severely, life is truly what we make of it. By planting the seeds of hope, confidence, and self-assurance, we are offering our children the right to a bright and fruitful future.
Whether it be CMT or some other uninvited disease, our children will have acquired the tools with which to triumph over whatever may befall them, because YOU, as parents, have given them the means. No one ever said that a parenting is an easy endeavor, but your hard work, time and patience is and will make a marked difference in the minds and lives of your children and the generations to come. Manual or no manual, your kids will be forever grateful, which I deem the best award a parent could ever receive.
We are in the midst of an opioid overdose epidemic.
As the laws on prescribing narcotics become stricter, the millions of people who suffer from chronic and debilitating pain are left to fend for themselves. Denied access to pain-relieving medication, those with excruciating conditions are suffering, searching for alternative forms of relief.
It is in this light that I asked neuromuscular specialist, Dr. Greg Carter, chief medical officer of St. Luke’s Rehabilitation Institute and clinical professor at Washington State University’s College of Medicine about his research on cannabis as it relates to neuropathic pain in CMT.
By Greg Carter, MD
Humans have used cannabis (marijuana) as a safe and useful pain reliever for thousands of years. With appropriate patient screening and physician oversight, it can be used to treat chronic pain, particularly neuropathic pain, which causes people with CMT much grief and suffering.
Originally delta-9-tetrahydrocannabinol (THC) THC was felt to be the main active ingredient in cannabis. However, over the past several decades, other compounds unique to cannabis (“cannabinoids”) were isolated and characterized. Cannabis is now estimated to contain over 100 such compounds, many of which are not psychoactive but have potential medicinal benefits. This includes compounds like cannabidiol (CBD) and cannabinol (CBN).
We now know there is an internal cannabinoid system in our bodies that is intricately involved in the control of movement, pain, memory, mood, motor tone, and appetite, among others. Activation of this internal “endocannabinoid system” is what produces the runners high, among countless other physiological effects.
Overall evidence indicates that cannabinoids are safe and effective if used properly and may relieve pain without serious adverse effects. You do not need to be “high” to get pain relief. Strains that have higher CBD content and lower THC strains are the best. Patients should not smoke cannabis but rather use concentrated tinctures, putting several drops under the tongue. Vaporizers can also be used, which allows for inhalation of active hot mist, without the smoke. For dosing, patients should “start low and go slow.” They can take two or three inhalations, stop, and wait 10 minutes to see what the effects are. Ingestion takes about an hour to get effects so it’s harder to dose but lasts longer. Cannabis is absorbed through the skin and may be used in a liniment for localized pain. Patients should not drive or do anything that requires full cognitive and motor function while medicated with cannabis.
Patients with CMT need to be aware of the laws in their particular state or country. Even in states that allow for medicinal use, there may be laws that require that all standard means of treating pain be tried and failed before cannabis can be offered. Arguably, any decision to offer medicinal cannabis as a treatment option will depend on the severity of the underlying pain condition and the extent to which other approaches have been tried. Patients also need to be aware that the use of cannabis for any reason remains illegal under federal law in the United States.
Here are a few of his sources, including one of his research papers:
Effective therapeutic options for patients living with chronic pain are limited. The pain relieving effect of cannabinoids remains unclear. A systematic review of randomized controlled trials (RCTs) examining cannabinoids in the treatment of chronic non-cancer pain was conducted according to the PRISMA statement update on the QUORUM guidelines for reporting systematic reviews that evaluate health care interventions. Cannabinoids studied included smoked cannabis, oromucosal extracts of cannabis based medicine, nabilone, dronabinol and a novel THC analogue. Chronic non-cancer pain conditions included neuropathic pain, fibromyalgia, rheumatoid arthritis, and mixed chronic pain. Overall the quality of trials was excellent. Fifteen of the eighteen trials that met the inclusion criteria demonstrated a significant analgesic effect of cannabinoid as compared with placebo and several reported significant improvements in sleep. There were no serious adverse effects. Adverse effects most commonly reported were generally well tolerated, mild to moderate in severity and led to withdrawal from the studies in only a few cases. Overall there is evidence that cannabinoids are safe and modestly effective in neuropathic pain with preliminary evidence of efficacy in fibromyalgia and rheumatoid arthritis. The context of the need for additional treatments for chronic pain is reviewed. Further large studies of longer duration examining specific cannabinoids in homogeneous populations are required.
Departments of Anesthesiology, Pain Medicine and Perioperative Care, Psychiatry and Pharmacology Dalhousie University, Halifax, Nova Scotia, Canada, firstname.lastname@example.org.
An updated systematic review of randomized controlled trials examining cannabinoids in the treatment of chronic non-cancer pain was conducted according to PRISMA guidelines for systematic reviews reporting on health care outcomes. Eleven trials published since our last review met inclusion criteria. The quality of the trials was excellent. Seven of the trials demonstrated a significant analgesic effect. Several trials also demonstrated improvement in secondary outcomes (e.g., sleep, muscle stiffness and spasticity). Adverse effects most frequently reported such as fatigue and dizziness were mild to moderate in severity and generally well tolerated. This review adds further support that currently available cannabinoids are safe, modestly effective analgesics that provide a reasonable therapeutic option in the management of chronic non-cancer pain.
St Luke’s Rehabilitation Institute, Spokane, WA 99202, USA.
The field of pain medicine is at a crossroads given the epidemic of addiction and overdose deaths from prescription opioids. Cannabis and its active ingredients, cannabinoids, are a much safer therapeutic option. Despite being slowed by legal restrictions and stigma, research continues to show that when used appropriately, cannabis is safe and effective for many forms of chronic pain and other conditions, and has no overdose levels. Current literature indicates many chronic pain patients could be treated with cannabis alone or with lower doses of opioids. To make progress, cannabis needs to be re-branded as a legitimate medicine and rescheduled to a more pharmacologically justifiable class of compounds. This paper discusses the data supporting re-branding and rescheduling of cannabis.
I’ve seen the name, Quentin Martin, like everywhere on the CMTA social media pages lately. And coincidentally, just last week, he reached out to me about promoting igive.com for the CMTA. But, before getting into all that, let me tell you a bit about our friend, Quentin.
A Little Background
As a youngster, he was very active. He loved sports, the great outdoors and climbing trees. He also idolized Superman and wanted to be just like him – a man of steel, flying through the air, catching criminals and saving humanity.
That dream faded as he approached his preteen years when he started to trip and fall – a lot. At 11 years-old, he was diagnosed with CMT – a progressive nerve disease for which there is no treatment or cure. He was fitted with plastic leg braces to correct foot drop. He hated those white, clunky plastic braces, which screamed, “Hey, you! Yeah, you! Look at me! Something is up with my lower legs. But you won’t find me…I’m hiding under these pant legs and I’m not coming out.” Big mouth braces! Mean kids pick up on that sort of thing pretty quickly.
The Worst Is Yet To Come
If you think that is bad, there is more.
At age 12, Quentin suddenly lost his sight to another progressive condition: Leber’s Hereditary Optic Neuropathy. When I heard that, I was in a state of disbelief.
Seriously, can you even imagine?
Thankfully, throughout these difficult times, his mom provided unconditional support and love, infusing him with strength and willpower. Pity never crossed her mind. Her son would be okay. She knew it and she made sure he knew it. There would be no self-pity in her house. Instead, her main message was one of acceptance, determination, and encouragement. She also emphasized the importance of extending a hand to others in need – always.
Georgia Academy for the Blind
Depressed and withdrawn, 12-year old Quentin was enrolled in a school for the blind in Macon, Georgia, joining other vision- impaired youth learning to be in a world without the sense humans rely upon the most – sight.
The first couple of years were hard. Quentin was homesick, scared and sad. It wasn’t going well until the swim coach asked him to consider the swim team, and would not take no for an answer. This was a major turning point in his life.
It’s beautiful to know that neither Quentin’s mom nor his coach ever gave up on him, and little by little, Quentin accepted the idea that he could live with CMT and blindness AND could do anything he set his mind to.
During his last year of high school, Quentin miraculously regained most of his sight after a prayer vigil in his name. The medical community couldn’t explain the improvement in vision, but who cares? Quentin went on to get his license, attend photography school, travel, work different jobs and travel.
Quentin in 2018
Today, Quentin is giving back through his work at the local Hand of Hope, Inc in Cordele, GA during the day, and the CMTA at night. He spreads awareness of CMT, pushing initiatives to help the CMTA and sharing news to help others live well with this progressive disease. He’s even set up his own Facebook page – Quentinscauseforcmt: https://www.facebook.com/Quentinscause2015/
To date, Igive has brought in right around $9,000 for CMTA. With a little more support, I bet we could raise that much this year alone. It’s so easy – Go to igive.com. Select the CMTA. Install the teensy tiny igive.com button and you are on your way to raising money to support CMT, AT NO COST TO YOU!
Unfortunately, Quentin’s vision declined over the years and CMT does not get better, but he won’t let these conditions stop him from living the best life possible while ALWAYS helping his fellow man. His favorite quote goes something like this, “It’s not what life throws at you that makes the man, but what you decide to do with what life throws at you that really matters.”
Quentin might not realize it, but he has achieved his childhood dream. With his willpower, kindness, and benevolent actions, he has actually taken over the identity of his longtime superhero-CMT Superman!
Top Twelve Reasons I’m Talking About CMT during Awareness Month
– 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:
9) Dentures? Besides having had too many cavities, crowns, and pulled teeth, there is absolutely nothing wrong with my dental hygiene. 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 we are left with Charcot-Marie-Tooth or CMT.
8. 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 studied:
I stop my complaining when I remember that the name COULD definitely be 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 disease-naming committee in time. It had 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 rathe
Thank God for small miracles.
6. Let everyone know that CMT does not stand for:
Country Music Television
Childen’s Musical Theater
Certified Massage Therapist
5. Pronunciation: Give others ways to remember the name, pronounce like:
5. 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?
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.
4. 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).
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. 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/
Give your friends and family the How Much Do You Know About CMT Quiz!
Be the expert on questions they can’t answer. Teach a friend and make good use of your never-ending CMT knowledge!
Acceptance-Whatever you do, talk about your CMT. Knowledge is power. Let others know about the fatigue, the clumsiness, the high-arched feet, the braces and everything else that comes with CMT. Be factual. Own it and don’t let it own you. If you accept your CMT, others will too.
Walk 4 CMT: And this year, we have a new activity planned if you don’t cycle. Now, everyone can participate in raising funds for CMT. Sign up to do a mile walk on the grounds of the Old Lantern. Every step brings us closer to a treatment.
A Message from Yohan
Thanks for reading my story!
Cast is off! Walking boot is on, and I can start putting pressure on that foot next week. I’ve never had the energy to be super athletic. So just walking, one foot in front of the other is my end goal. And short distances are fine. I don’t need to climb Camel’s Hump or Mount Mansfield Ultimately, if I can walk up Church Street once my foot heals, I’ll be so happy. Please continue to donate to my cause, which is now our cause. Your support has lifted my spirits when a bad day comes along. Your caring keeps me hopeful. Your participation reminds me that I can never give up. Thank you for your vote of confidence. I will not let you down.
Why We Need Your Help
Your contributions really are getting us closer to stopping the progression of CMT. Please participate and register for the 4th annual Cycle 4 CMT. And bring a friend or two!