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

“Liz baby, Liz baby, baby, baby, Liz baby!” he sung every time we crossed paths. Pete was my postman when I was in college at the University of Vermont. Tall, good-looking, great personality – Pete, a proud Jersey boy, knew everyone in town and everyone knew Pete. After years with the post office, he worked himself up to having the the best and most coveted route in VT – Church Street in downtown Burlington and its immediate surroundings.

Over time, Pete and I became fast friends. I knew his older brother who bartended at a well-frequented joint in town- the “Chicken Bone Cafe.”  Although I never knew his parents well, his family had a fine reputation in our small community. So, before you knew it, I was leaving my apartment unlocked when I was in class so Pete the Postman could take a short break during his busy workday to wander in out of the snow and warm up, or quench his thirst in the heat of summer with a cold drink. We saw each other around town, met for coffee and hung out once in a while.

When I received a scholarship to teach in France, Pete was excited and promised to visit.

And visit he did! Just 2 weeks after meeting my husband, Gilles, Pete showed up with a smile. “Hope you don’t mind, Gilles” Pete smirked, “but, we planned this trip long before she met you!”

Pete get his morning coffee!

Elizabeth and Pete in Spain: Circa 1989

Gilles and Pete got to know each for about an hour before we left for Spain. Upon our return, Pete told me in no uncertain terms – “Liz baby, Liz baby, baby, baby, Liz baby –  I like that French guy, Gilles.  Don’t mess this one up…….because if you don’t end up marrying him…..I will!” he laughed.

Years later, after Yohan had been diagnosed with CMT,  Pete stopped by to see us during one of my many summer trips back home. Pete had news. His mother was in a nursing home and had just been diagnosed with CMT (Charcot-Marie-Tooth disease). “No way!” I responded. What are the chances? I wondered if he had CMT, too…??

Click Here to hear Pete Akey tell his CMT story – You’ll laugh – I promise:

Yohan and I could not wait to take a look at his feet. As he removed his socks and rolled up his pant legs, Yohan and I looked at each other and said-“Yep, looks like CMT to us!” Pete had lost his hair from the ankles down (he wore socks to bed), had mildly curled toes, chronically cold feet and loss of sensation. Apparently, his brother also had symptoms, more severe than his own.

Pete went to see Dr. Shy who was in Detroit at the time and received confirmation of CMT 2!

I thought this was the biggest coincidence of a lifetime….until I started meeting others whose friends or family members had been diagnosed with CMT.

-The owner of the VT company who makes our Cycle 4 CMT swag told us his brother-in law had CMT but he never talked about it.

-My good friend and long-time neighbor, Sara Jane, has a friend whose husband’s father and children have CMT.

-My dearest friend Shirley has a 90-year-old friend with CMT.

-My friend and colleague, Jeana Sweeney has CMT as does her husband’s twin brother’s wife’s father (Jeana’s sister-in-law’s father- no blood relationship) and his extended family all have CMT.

-Later, we found out that the wife of one of our very good French friends had a family history of CMT.

-Just last summer, I was walking around the downtown area of Burlington when I stumbled upon a man with “the walk.” Before passing him on the sidewalk, I’d noticed his leg braces, the walking poles, the hand contractures.  Still on a high from the VT Cycle 4 CMT event the previous day, I just could not help myself.

“Hi! Sorry to bother you….ummmm, just noticed your leg braces and was wondering if you have Ceee Emmm Teee?” I enunciated in an obnoxiously loud voice. You know, Charcot-Marie-Tooth disease, like my son, Yohan…….blah, blah, blah.”  No where to turn, Bill tried to look away. In fact, the more he ignored me, the louder I spoke. What can I say – I have a big mouth and I’m passionate about this cause! In retrospect, Bill was probably a little scared inside, wondering if I was having a manic episode or needed psychiatric care.

After a bit of conversation, I learned that the doctors had never really given him a definitive diagnosis, but he confided that he had a progressive peripheral neuropathy and his son had very similar symptoms. I sent him a lot of CMT information and we still keep in touch. He’s the nicest guy ever and I’m glad I decided to stalk him……I mean, strike up a conversation with him.

Is CMT a rare disease? Technically, yes. A rare disease in the US  is defined as a condition that affects fewer than 200,000 people. CMT purportedly affect 120,000 Americans.

If this is true, CMT is definitely the most common rare disease no one has ever heard of.

But, if I had to bet, I would say it is MUCH more common that the current, but very outdated statistics of 1 in 2,500 people worldwide reveal. With lower cost genetic testing, increased awareness efforts, and many more people connecting and talking on social media platforms, it seems as if the numbers of people diagnosed with CMT have increased dramatically.

The good news? Researchers, pharma and biotech companies have shown an increased interest in understanding and finding a treatment for CMT. Technologies that seemed light years away (axon degeneration, CRISPR, gene therapy) are now ready for prime time. It’s such an exciting time and the CMTA is leading the charge! Learn more here: https://www.cmtausa.org/research/star-gene-therapy/

So, what about you? Got a CMT story to tell? If so, write it in the comment section. I’d love to hear more serendipitous stories of chance encounters!

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

What are the Symptoms of CMT?

First signs include frequent tripping,  toe-walking (children) , frequent tripping, ankle sprains, clumsiness and “burning” or pins-and-needles sensations in the feet or hands.

Structural foot deformities such as high arches and hammertoes are common. Some people present with flat feet.

Muscle wasting in the lower legs and feet may lead to foot drop, poor balance and other gait problems.

Muscular atrophy in the hands often causes people to have difficulty with tasks involving manual dexterity, such as writing and manipulating zippers and buttons.

Abnormal sensation in the extremities and an inability to sense where one’s body is in space are also common, and many people experience neuropathy, muscle or joint pain.

Poor tolerance for cool or cold temperatures is typical and many people have chronically cold hands and feet.

Additional symptoms may include hand contractures, tremor, knee dislocation, cramps, atrophy of muscle located between the thumb and forefinger (thenar muscles) , chronic fatigue, sleep apnea, breathing difficulties, swallowing difficulties, absent or reduced reflexes, poor proprioception, poor circulation, scoliosis, kyphosis and hearing loss.

Psychosocial Effects – psychosocial impact of having CMT can be quite devastating, leading to irritability, depression, anxiety, sadness, isolation, loss of pleasure, weight gain or loss, hopelessness, worthlessness, guilt, thoughts of death or suicide attempts. Please speak with your doctor…..

A CMT diagnosis involves clinical evaluation of muscle function and atrophy, testing of sensory responses, and electromyographic and nerve conduction studies. Many types of CMT can also be diagnosed by genetic testing.

Additional symptoms may include hand contractures, tremor, knee dislocation, cramps, atrophy of muscle located between the thumb and forefinger (thenar muscles) , chronic fatigue, sleep apnea, breathing difficulties, swallowing difficulties, absent or reduced reflexes, poor proprioception, poor circulation, scoliosis, kyphosis and hearing loss.

The psychological impact of having CMT can be quite devastating, leading to irritability, depression, anxiety, sadness, isolation, loss of pleasure, weight gain or loss, hopelessness, worthlessness, guilt, thoughts of death or suicide attempts. Please speak with your doctor…..

A CMT diagnosis involves clinical evaluation of muscle function and atrophy, testing of sensory responses, and electromyographic and nerve conduction studies. Many types of CMT can also be diagnosed by genetic testing.

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