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.

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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:

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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!

Ironing Out the Wrinkles of Life-A CMT Story

“These shirts look fine. Why do I have to iron them?” Yohan asked with his serious face.  As he held the shirts at arm’s length and brought them closer to his eyeballs, squinting to make out the “wrinkles”, I pointed the way to the iron and ironing board.

17dad401117c2e27__1200911

Still not game, he shared an idea, “How about if I just drop them off at the dry cleaners?  Isn’t that what you used to do with Gilles’ shirts?”  Damn, that boy has a great memory, I thought.

In all honesty, I used to hate ironing men’s dress shirts. When Gilles worked in a corporate environment, I would try and try, in vain,  to produce crease-free shirts but for every wrinkle I smoothed, 2 more would appear. Obviously, I would not be the best of teachers, but once we got down to business and the drama and comedy died down, he made progress (watch the clip below).

Here’s his first try:

 

https://youtu.be/KuHQoBP_hSU

 

On a more serious note, let me give you a glimpse of Yohan’s life today.  He’s just completed his first year of Graduate School at Claremont University where he’s studying Positive Organizational Psychology.

Over the summer, Yohan is interning at a local company, Mind Garden. He’s loving it!

First Day of Work – Look at the nicely ironed shirt!

Mind Garden is an international publisher of psychological assessments, providing tools to facilitate positive personal and organizational transformation. He’s enjoying the people, the work, and the experience. On Fridays, he takes calls for the CMTA, helping others navigate their way toward finding solutions and information about CMT or Charcot-Marie-Tooth disease.

Mind Garden

It’s a joy having him home for the summer. He’s always joking, laughing and telling stories. And, I love listening to how he perceives the world around him. For example, when he looked at the ironing board, he asked why it was in the shape of a surfboard.  He is also convinced that “It is way too small for ironing. In fact, it’s so narrow, only a teensy part of the shirt fits on the actual board!.” I suggested he create a new type of board and make millions after pitching his new design to the folks on  Shark Tank!

When I showed him a new piece of artwork featuring barn owls, he pointed out how the owl heads look like sliced apples. That imagery had never grazed my mind, but he’s right! My world is changing before my eyes.

 

Apple Faces

 

I just came back from a trip to see my family in VT and to help my brother, Chris, promote the  Cycle (and Walk!) 4 CMT event (www.cycle4cmt.com). Yohan took good care of our very needy and spoiled cat, Tortellini. This cat, turning 14 in the month of September, is no easy keeper. She eats 4-5 cans of cat food per day and drinks tons of water due to some minor kidney problems. What goes in must come out! That’s right, he had litter box duty, but never once complained (that I know of, at least!).

Tortellini also has hypothyroidism, which necessitates rubbing a medication in her ears twice a day. And that’s not all…..he played with her, gave lots of loving and sent me photos /videos to prove she was still living, breathing and pampered!

Tortellini

Lastly, out of sheer frustration, he’s earnestly attempting to organize me, but that’s a ginormous job. It’s definitely not a summer project because it takes a lot of time for new neural connections to be established in the brain. A lot of time….years even.

Nevertheless, I’m mostly enjoying the experience which is creating more mindfulness in my life – I’m living in the now, and thinking less about “what’s next.”  If you asked Yohan, he’d probably tell you that my progress is painfully slow but baby steps in the right direction are better than regression (which will inevitably happen sooner or later.)

 

Regarding his surgically-altered foot, he’s doing pretty well. His foot is still very sensitive and the nerves continue to be fussy, but he’s more mobile than ever before. He has drop foot on the foot that was not reconstructed, so he walks heel-toe, slap, heel-toe, slap, heel-toe slap. He’s adapted to this new gait and is in no hurry to have a third surgery. He is happy just the way he is, which is all that really matters.

The only big plans we have for the summer are going to Vermont to participate in the Cycle (and Walk!) 4 CMT on August 26, 2018, in Charlotte, VT. He’ll be walking in the event and raising money to advance CMT research.

Yohan and Uncle Chris

I am so proud of Yohan. I know in my heart he is resilient and will find ways to surmount obstacles that try to block his life path. In fact, while I was away, he discovered the wrinkle free setting on the dryer….smart kid! No more ironing, no more wrinkles!

He also knows that his family and friends stand strong and are fighting this degenerative disease beside him. And by getting involved with the CMTA, he is advocating for a world without CMT. For this, I am extremely grateful.

Well, I guess I’d better stop here. My personal assistant just asked me to put my keys where they belong and to throw the empty cat can and lid in the recycling-after it is rinsed out, of course.  Apparently, I’ve been slacking!

 

CMTA STAR Research: Did You Know?

Neurologist: Well, he has CMT and yes, it gets worse over time.

Me: Silence

Neurologist: There is really nothing much you can do about it.

Me – Silently feeling FREAKED OUT!

Neurologist: Young man, at the beginning of the game, you are dealt a specific hand of cards. Some people receive a great hand, and others, well, others get cards that kind of suck. In the end, it does not matter.  Life is not successful because you hold good cards or bad cards. It’s what you do with those cards that will make or break you.

Me- Silent, trying to figure out why he was talking about a game of cards.

Neurologist: I’ll see you back here in a year.

Me: Silent, thinking that wow, we came for a diagnosis and we are leaving with an intro to philosophy.

That evening, I looked through the handouts he shared with us and I came upon the URL of the Charcot Marie-Tooth Association or CMTA. One thing led to another and I’ve been heavily involved ever since. Looking back over the past 15 years, I’m in awe of what we’ve accomplished: an abundance of CMT resources, branches, patient advocacy efforts, CMT awareness programs, and a promising research program-Strategy to Accelerate Research or STAR.

Today, I’d like to expound upon STAR.

 

 

Highlights

  • In 2008, the CMTA launched STAR or Strategy to Accelerate Research which was innovative and unique at the time because we required scientists to work together and collaborate to advance CMT research. No more silos. No more individual superstars. No more “me” and a lot more “we”.
  • Since many of the genes that cause many types of CMT are known, the CMTA’s work toward finding a treatment has advanced that much quicker.
  • Clinical planning has started! With the Inherited Neuropathies Consortium (INC), the CMTA is developing crucial clinical infrastructures: new centers, more clinicians, patient information, and history. Get involved with CMT research: https://www.rarediseasesnetwork.org/cms/inc/

 

  • We are developing ways to measure disease progression (biomarkers) in people with CMT (this is important to see if a treatment works or not). The CMTA’s STAR has developed and is using cellular and animal models of CMT to help pharmaceutical companies test their drugs quickly.
  • We have partnered with pharmaceutical companies and labs to apply breakthrough genetic therapies (like gene therapy, RNAi, and CRISPR) to CMT.

Today- The Bottom Line

  • The CMTA currently has 25+ active research projects with top labs around the world.
  • Since 2009, we’ve spent over $8M to advance CMT research.
  • We have 25 world-renowned scientists on our Scientific Advisory Board (https://www.cmtausa.org/research/star-advisory-board/).
  • We have partnership agreements with about 20 pharmaceutical, biotech and service companies across three continents.
  • They are using state-of-the-art technologies (CRISPR, gene therapy, gene silencing, axon, and muscle regeneration) and are working with the CMTA to use the assets we’ve developed through STAR.
  • We have 26 CMTA Centers of Excellence, so the infrastructure for upcoming clinical trials is ready to roll. (https://www.cmtausa.org/resource-center/finding-help/cmta-centers-of-excellence/)
  • We will continue to include more and more types of CMT in our research work.
  • And we have forged relationships with many, many families with CMT. You will have a role in drug discovery. It’s a group effort.

 

 

 

 

 

What Now?

All the major elements are in place and we are giving it our all to bring treatments to people with CMT. We estimate “kneading” $10,000,000 in the upcoming years to help bring CMT drugs to market. Why?

Bringing a new drug to market costs between $400 million and $1 billion. And that’s a lot of dough!

The CMTA does not have this kind of money. And I sure don’t either. But, as I wrote above, pharmaceutical companies are reaching out to us. They want to collaborate with us because our scientific work or assets are superb.  In the end, they will carry the ball over the line for us. That’s why we are so excited that the number of partners has exploded in the past 2 years from a handful to about 20.

So, if you want to be part of these very exciting times:

-Donate to the CMTA (https://www.cmtausa.org/donate/make-a-donation/)

-Participate in a CMT Walk or Fundraiser (https://www.cmtausa.org/upcomingevents/map/)

-Fundraise for the CMTA  (https://www.cmtausa.org/fundraise-for-a-world-without-cmt/

 

 

-Register/Attend/Underwrite my family’s annual fundraiser – The Cycle (and Walk!) 4 CMT event (www.cycle4cmt.com).

http://www.cycle4cmt.com

Sponsor me – Elizabeth Ouellette-  in the Cycle (and Walk!) 4 CMT fundraiser, which is taking place on August 26, 2018 in Charlotte, VT.  Every dollar invested in the Cycle (and Walk!) 4 CMT event is dedicated to advancing CMTA Research toward finding a cure. (https://cmta.akaraisin.com/pledge/Participant/Home.aspx?seid=16550&mid=9&pid=3311373)

Now, play your cards right and play them well. Get Involved. Get Sassy. Get a Move On. The future is OURS!

Cardboard Yohan and me!

 

 

 

 

 

 

 

 

If you have questions, email me: elizabetho@outlook.com

CMT: So Much More Than Hands and Feet!

Yohan gets Rylee’s mind off her knee pain.

 

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

 

I will not stand for this. Will you?

Helping Yo with his drops!

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

I will not stand for this. Will you?

Bethany and Elizabeth

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

I will not stand for this. Will you?

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

I will not stand for this. Will you?

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

 

Highlights

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

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

WE will not stand for this.

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

Chris Ouellette-The organizer of the Cycle 4 CMT

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

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

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

 

Here is how to start changing lives:

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

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

Never Give up or Give In. Just GIVE!

 

Meet the Funcle!

What’s a Funcle? A Funcle is a Fun Uncle, of course! Yohan’s Funcle Chris (my brother) is a whirlwind of energy, laughter, determination, and gusto.  Our families have remained close over the years, vacationing together, spending summers in Vermont, celebrating holidays together, etc. Here are just a few pictures to illustrate my point:

From their first encounter, they were fast friends – Funcle Chris and Yohan
Bahamas trip

IMGP0187

 

 

 

Yohan looks up to Funcle Chris for many reasons, one of which is his relentless drive to be part of the mission to put an end to CMT or Charcot-Marie-Tooth disease with our annual “Cycle (and Walk!) 4 CMT.

CMT does not run in our family.  Yohan’s CMT is the result of a new genetic mutation. There are many subtypes of CMT, and he has the most common type – CMT1A. It’s intriguing to know that CMT is known as a heritable disorder, but spontaneous genetic mutations causing CMT do happen – it could even happen in your family!

 

Compelled to change the fate of so many with CMT, he changed his anger and frustration to ACTION! Here is his story:

Born and raised in Vermont, I have had the opportunity to experience the natural beauty of this environment as an active cyclist, skier, and hiker.

In 2014 I had a vision and drive – I wanted to provide individuals with CMT the opportunity to experience the activities that define Vermonters and our culture. CMT affects approximately 250 people in VT as well as my 25-year-old nephew Yohan Bouchard. Yohan tires easily and has difficulty managing the pain when walking. Due to foot deformities, he cannot wear a cycling shoe, ski boot, hiking shoe, etc.

I realized that an opportunity existed – connect the passion and energy that Vermonters possess for outdoor activity to a day of fundraising so individuals with CMT can someday enjoy these simple pleasures. The only way to accomplish this vision is through fundraising in support of research to stop the progression and prevent CMT in the future. As a result, Cycle 4 CMT was born in the summer of 2014.

From 2014 to 2017 we successfully raised over $640,000. The money we raised was and will continue to be used to fund our goal and mission… support the development of new drugs to treat CMT, to improve the quality of life for those with CMT and ultimately, to find a cure!

Please help find a cure for CMT – Join us on August 26, 2018 to enjoy incredible cycling, breathtaking views of Vermont’s Lake Champlain and the Green Mountains while fundraising for a great cause!”

 

To learn more about our Cycle (And Walk!) 4 CMT, please go to our website: www.cycle4cmt.com. Come to meet the Funcle, his nephew, Yohan and all the wonderful individuals who make this event successful year after year.  Can’t come? Well, a donation of any amount would help us reach our $250,000 goal. All the funds raised will be earmarked for CMT cure-driven research! Sponsor the event here:  https://cmta.akaraisin.com/Common/Participant/Search.aspx?seid=16550&mid=22

Cycle 4 CMT!!
Marking the course
I have no words for this picture.