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:
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
“My high school years?” she shuddered. “After the doctors diagnosed me with polio at 13-years-old, they wanted to straighten my misshapen feet. So, for the next 5 summers in a row, my school vacations were spent either in the hospital or at home, immobilized, with heavy plaster casts weighing me down.” With raspy, uneven breath, Flora described those dreadful Mississippi summers as muggy, sticky and hot – really hot. “Neither the hospital nor my home had air conditioning in those days, so I was pretty uncomfortable – but I got through!” she added with her usual determination.
I first spoke with Flora in 2003, when I was getting to know the CMTA group leaders throughout the country. She told me that after her orthopedic surgeon “straightened her out”, she had left her polio diagnosis behind and moved forward with her life. She went to college, married her husband of 52 years – Billy Joe Jones in 1960 and had three children. After the birth of her youngest child, Cindy, she decided to stay at home to be a mother, wife, and homemaker.
Over the years, her legs weakened and her hands slowly lost function. In 1982, at the age of 45, she was finally diagnosed with Charcot-Marie-Tooth disease or CMT at an MDA clinic. Okay. There was a name for her progressive symptoms, but she wondered what she was supposed to do with the name. She couldn’t just “Google It” because home computers had not made their debut in society.
Luckily, by word of mouth, she heard about a CMT conference in Toronto, hosted by CMT International. No way was she going to miss this opportunity to learn and gather more information about CMT. Upon arrival, she was stunned to meet others with similarly-looking feet and hands – 200 other individuals with “the walk” including 30 people who admitted to breathing difficulties, like herself. One of her favorite parts of the conference was educating CMT clinicians about her own CMT.
In 1993, she was elated to discover a CMTA support group in her area. With her passion for spreading awareness and teaching others about CMT, it was not long before Flora stepped up as the leader of the Brandon, Mississippi CMTA support group. In fact, she involved the entire family in her mission and many weekends were devoted to mailing educational information, calling new members and organizing CMTA meetings.
Due to severely atrophied leg muscles, she lost her ability to walk at the age of 58, but that did not make one bit of difference. She continued to lead her group enthusiastically, informing the members about the CMTA, its research, and resources. Over the course of her lifetime, she touched innumerable lives, informed countless medical professionals and supported others who had a CMT diagnosis.
Toward the end of her life, she could barely use her hands, and her violent tremors made holding or sipping from a cup virtually impossible. Her paralyzed diaphragm made breathing harder and harder with each passing day and her weakened vocal cords affected her ability to talk. Yet, Flora did not let any of those worsening symptoms stop her from fulfilling her mission in a positive, cheerful and comforting way.
I just spoke to Flora a few months ago. She called to check in, to see how Yohan was doing after his foot surgeries. She told me he was always in her prayers. She admitted that her CMT was wreaking havoc on her body, but it would never, ever dampen her inner spirit. Even in her final months, she would not leave home without her brochures. She wanted to be ready to educate everyone and anyone who would listen to her about CMT. In a recent letter from Flora’s daughter, Cindy, she confided, “Even up to her last doctor’s appointment, she educated her doctors about CMT.” In February, Flora was given a new doctor, “a cute one!” she said with a wink. Super impressed that he really was interested in CMT, he even explained how he could help her live a productive life despite her limitations.
Following in Flora’s footsteps, I try to spread CMT awareness wherever I go, even if Yohan rolls his eyes out of his head like he’s screaming loudly. If we all speak about this progressive disease to our doctors, nurses, family, and friends think how many people would recognize the name, the symptoms, and the signs. “It’s CMT.” I say. “Charcot-Marie-Tooth disease.” And when the person looks puzzled, which they usually do, I remind them of the acronym – CMT. To make it stick, I joke that CMT does NOT stand for Country Music Television. And I might add, “ It’s the other CMT-the one that destroys nerves, causes muscles to weaken, and disables the young and old. It’s Charcot-Marie-Tooth disease and we desperately need a cure.” And a cure starts with awareness.
In memory of my friend Flora, who passed on April 1, 2018, at the age of 81 from CMT-related breathing complications, please help raise awareness of CMT. Think about it – even the most worthy causes won’t receive a dollar in donations if no one knows about them. Putting a face and a personal story on CMT may spur people into action, especially if they know their support will lead to a cure.
Flora, you are my inspiration to wake up every day and fight for a world without CMT. And now, I imagine you moving freely among the stars and dancing with angels. And I smile. I may not have told you during our phone conversations, but I admire you and love you deeply. Your memory will never be forgotten.
“Can you be the elevator guy?” I asked. “When people walk in, introduce yourself, show them to into the elevator, push the down button and point out the way to the meeting room. Got it?”
“Whatever” he sighed, looking exaggeratedly bored.
I don’t get it. 5 years ago, he absolutely loved pressing those elevator buttons. I mean, it used to be a whole thing. When he was with his little friends, they fought tooth and nail to be the one that got to choose the direction of our destiny. There would be meltdowns, tantrums until each had had a turn. Now he had the run of the place and he was bored?
I was a little anxious about bringing 10-year-old Yohan to my first CMTA support group. At that point in time, we had not met anyone with CMT. This would be our first foray into the CMT community and we had no idea what or who to expect. Would there be only old people there, relying on canes, bending over walkers, or sitting in wheelchairs, completely disabled by the harsh effects of a lifetime of CMT? How would Yohan react to the young and/or old whose CMT had progressed to the point of curled hands, atrophied legs, skinny calves and high-arched feet?
I couldn’t help asking myself if I was on the verge of making another very dumb and costly parent mistake? I imagined the weekly psychotherapy bills I’d be paying as a senior citizen, due to having caused him a lifetime of trauma and PTSD. “She made me attend these horrible groups …..and left me there by myself……,” he’d lament while lying on the therapist’s couch.
In retrospect, I too was concerned about how I would feel about glimpsing into the possible future of my own son’s life with advanced CMT. Having a change of heart, an inside, harsh voice scolded me, “You should have left him at home! What were you thinking?” Darn. Why didn’t I think about asking Dr. Spock, the world-renowned pediatrician? Now it was just too late. Time to bite the bullet.
As my future CMT family made its way through the doors, I blocked out the negativity and threw myself into the meeting – greeting, talking, explaining, introducing; there was no time to worry about the possibility of Yohan’s PTSD reaction, the therapy bills, the nightmares, the medication prescribed for anxiety, the mounting debt.
The clock struck 2:00 pm and most everyone was there, including the elevator guy, Yohan. I asked him to take a seat in the circle, along with the other attendees while I ran back upstairs to make sure there were no stragglers, people who’d lost their way and could not find the room.
When I walked back to the room, I overheard someone complaining to one of the attendees, Terry, who has become one of our very good friends over the years, “I hate braces too. They suck. The plastic digs into my leg and makes my calf itchy and red. Does that happen to you, too?”
Rounding the corner, I looked up and was dumbfounded to see Yohan engaged in deep conversation with Terry and a few other of the attendees, commiserating about living with CMT. I breathed a sigh of relief – he had found his people.
He made a lot of friends that day, friends who follow his progress and support his CMT journey. These first interactions were instrumental in his acceptance of the disease and his willingness to get involved with the CMT Association, from leading youth groups, speaking at CMTA conferences, spreading awareness, and even fundraising for a cure.
Today, Yohan is in grad school, majoring in psychology. He’s had many ups and downs as his CMT has progressed, but those first relationships served as anchors, grounding and supporting him when times got tough.
Home for vacation just a few weeks ago, we spent time with Jeana and Rylee Sweeney. As I watched him with 12-year-old Rylee, he naturally emulated the love and compassion he experienced with the people who first wholeheartedly embraced him at that first group meeting. It was a beautiful scene to witness.
I’m thankful Yohan attended the branch meetings and found a way to manage life with CMT. He hates the disease, and so do I, but what choice do we have? He knows that everyone with CMT evolves differently, and he is not worried about the distant future. He just tries to get through each day as best he can.
He also believes in “playing it forward” – he enjoys taking the time and offering love, understanding, and compassion to the younger generations who are trying to find a way to live well with CMT.
And me? I’m just thankful it all worked out, and I’ll have enough money for retirement. Therapy is expensive!
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.
Is that what you are thinking? Hold on. Before you get all judgmental on me, let me explain why I believe Rare Disease Day to be a noteworthy event.
Rare Diseases- The Backstory
Passed by Congress in 1983, the Orphan Disease Act defined a rare disease as a condition that affects less than 200,000 people in the US. This piece of legislation provided incentives, like tax cuts, to encourage pharmaceutical companies to develop medications for rare or orphan diseases.
Here are some Rare Disease Statistics:
-There are over 7000 different types of rare diseases.
-25-30 million people in the United States are living with rare diseases. That’s 1 in 10 Americans.
-It is estimated that 350 million people worldwide suffer from rare diseases.
-80% of rare diseases are genetic in origin.
–95% of rare diseases have not one single FDA approved drug treatment!!
My son, Yohan, has CMT or Charcot-Marie-Tooth disease. Though it is known as an inherited disease, Yohan’s rare disease is the result of a spontaneous genetic mutation. I guess these things gotta start somewhere. There is currently no way to slow down the progression of CMT.
Over the years, Yohan has literally tripped and stumbled, learning to manage this diagnosis and its symptoms. Progressive in nature, CMT gets worse over time. So just when you think you’ve reached status quo, WHAM, something else goes wrong. It’s the nature of the beast – the stuff that life is made of.
So, having CMT is bad enough, but then life gets even more complex when:
-You trip and break your kneecap.
-Your tremor is so apparent that a friend tells you that maybe cold turkey is not the way to go.
– Your fingers go rogue, making it impossible to grasp your cell phone before it falls into the port-a-potty. To make matters worse, you panic and attempt to retrieve it. Ewwwwwwww! But, it no longer works. Shit happens!
-You accidentally hit “send” on that that email no one was supposed to see. Monday morning is going to be a bitch.
–You are suddenly diagnosed with a second rare and progressive disease.
No one ever made a rule stating that one rare disease per person is the maximum you can have. Some lucky people get none, and others get 2 or even more.
This past summer (2017) Yohan was diagnosed with a second rare disease that has nothing to do with CMT. It’s called Keratoconus (Carrot-A Cone-Us), which also has nothing to do with carrots and a lot to do with cones.
With Keratoconus, the clear, dome-shaped tissue that covers the eye (cornea) thins and progressively bulges outward into a cone shape. It is also progressive in nature.
THANKFULLY, there is a treatment to slow down the progression. It’s called Corneal Collagen Cross-Linking (CXL) whereby Riboflavin or Vitamin B2 is used to strengthen the cornea. Unfortunately, this procedure is not FDA approved and still in the investigational trial phase. Non-FDA approved means that insurance will not cover the procedure, so I guess we’ll be paying out of pocket.
Rare diseases are expensive.
The shock of the diagnosis is fading, and we are all coming to terms with the news. Compared to foot surgery, this “should” be a breeze. But, I have trained myself never to use the word “should” because it sets unrealistic expectations, ends up undermining me and adds weight to my already present feelings of anxiety, stress, and lack of control in the world.
My first reaction to unpleasant or distressing news is to stick my head in the sand, even if I might suffocate. Instead of facing the facts head-on, I hide out for a while and do a lot of self-talking before I can come up for air and move forward. And I’m not even the one who needs the eye surgery!
How’s Yohan taking this? Yohan lives in the moment, in the now. And he is resilient. He doesn’t dwell on what might happen at some point in the future. He weighs the pros, the cons, seeks out good counsel and forges ahead. He must have got that quality from his dad as he sure did not learn it from me. On the contrary, I am learning from him….again. Funny how that happens.
Deep inside I know that whatever the future holds, we’ll all be able to handle the outcome. We always do.
But I first better get the sand out of my eyes or I might be undergoing a similar eye procedure!
“His test came back positive for what? Sure, that explains a lot, but what’s it called again?” I asked stunned and a lot bewildered. “CHär/- Kät/ -Merēd -TOOTH, which sounded just wrong when he said it. I guess it sounds strange ANY way you say it, but he was completely butchering the French pronunciation of my son’s new disease (we are all French – can you blame me?) The take away was that our beloved 7-year old son Yohan had a progressive disease of the nerves, WITH NO TREATMENT OR CURE, which would make his muscles weak and useless over time. I felt dead inside – for a very long time.
My world shattered into millions of pieces that day, and I never thought we’d be able to pick up all the scattered bits to reformulate our dreams, our hopes, and our wishes for our son and our family. This reassessment took time, effort, and a lot of soul-searching, but we managed to accept the diagnosis and manage the Charcot-Marie-Tooth disease or CMT the best we could…. one day at a time.
As a mom, it was tough watching my child struggle with pain, braces, physical limitations, and obvious differences. Maternal instinct ordered me to protect, shelter, cajole, and, especially, do something—anything—to make the world a friendlier, more secure place for him.
For a while, school also became an inhospitable place, and bullies had their way of ruining a perfectly good day. Yohan’s self –esteem and self-confidence took major hits and his anxiety skyrocketed. The more I tried to lessen his burden by catering to his needs and lightening his load, the more resentful and withdrawn he became. Unknowingly, I was giving him the message he should not go out of his comfort zone because the world is a dangerous, scary place. And, I was setting him up to be reliant on me for simple tasks he was able to do all by himself.
We found an excellent therapist whose specialty was counseling kids with medical issues. Our goal was to empower him by making him accountable for his actions, giving him more and more responsibility, and providing him the space he needed to become autonomous and independent.
Sounds pretty good on paper, but implementation was another story.
On one of our many trips to Vermont, Yohan wanted to try snowboarding. I subtly, but unsuccessfully tried to talk him out of it because I did not want him to get hurt nor fail. He has CMT-related back issues (kyphoscoliosis), tight calves and heel chords.
Kyphosis + Scoliosis = Kyphoscoliosis
I assumed the worse – in my frightened mind, he had at least a 75%, maybe 80% chance of falling in the powdered snow, way over his head, and suffocating because he would not be able to stand up.
With the least amount of enthusiasm you can imagine, I rented the snowboarding equipment, grumbling under my breath the whole time, and when father and son left early one morning after Christmas, I stayed home and tried to keep very busy, blotting out what was happening on the slopes.
Later that day, after what seemed like an eternity, Yohan burst through the door, still in one piece and with a look of content satisfaction on his face. “I loved it!” he blurted out proudly. “I’m going to take this on seriously! I had such a great day!”
Like many first-time snowboarders, Yohan took a good many tumbles and falls in the snow, but he was confident in his abilities. He knew what he wanted, so he left home with determination and a can-do attitude, and came back fulfilled with a sense of accomplishment.
That event was followed by many more like it and served to reinforce what I already knew as a parent but still found difficult to wrap my head around. Even though Yohan has CMT, there are many things he can do with the right support, guidance, and freedom. Gilles, my husband was exemplary in providing many unique opportunities for him to explore his surroundings. An avid skier, mountain climber, biker, etc….he went out of his way to find activities that he and Yohan could do together, as a team. I am so grateful for my husband’s patience, effort and time with Yohan, as his childhood was full of fun adventures and learning experiences. I wasn’t as thrilled about some of these outings at the time, but I usually saw the photos after the fact and they speak for themselves-they have memories- good and bad- to last a lifetime! As parents, if we do not encourage our children to dream big, they might never know all the beauty, wonder, opportunity this world holds.
Yohan is scuba certified, thanks to his dad.
Do you remember the movie about the life of Ray Charles, “Ray”? Despite his total and permanent blindness at the age of 7, Ray Charles’ mother treated him the same as any other child. He was made to do his chores, learn to get around without a cane, and fend for himself. “I won’t be here forever,” she repeatedly told him. Harsh though her treatment of the young Ray seemed, their story is filled with passion, love and many teachable moments. As hard as it may be, and still is, I have witnessed Yohan’s challenges, disappointments, and heartbreaks. But I no longer worry as I am confident he has the emotional fortitude to get through just about everything. If there is just one gift with which I wish to leave him, it is the knowledge that with an open and positive mindset, he can and will achieve his heart’s desire.
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!
Everyone gets down from time to time. When I am not in a good place, I try to think about something positive and uplifting. Sometimes, well okay, often, my mind brings me to unusual places, which make me laugh. Let me share 9 of my thoughts with you. Do any resonate?
You are all winners. I often find myself saying, ” I never win anything.” Then, I thought about this statistic: According to scientists, it is estimated that we have a 1 in 400 trillion chance of being born. 1 in 400,000,000,000! So, let’s say that there are currently about 7.5 billion people living on the earth right now. Let’s create 553 planet earths, each with 7.5 billion people. Now, you have to randomly choose just 1 person from any of the 553 planets. That person is you! That’s how incredibly lucky you are to be alive today. Crazy, right? We are all winners in the lottery of life.
Freedom rocks. There is so much beauty in the world and most of us have the ability to enjoy the air, sky, animals, friends, etc. I often think of those in prison, in solitary confinement or people who live in countries where freedom is severely restricted. Take a minute to take in and appreciate the tiniest of detail in your surroundings. Then celebrate your freedom by dancing, throwing your arms up, kissing a loved one. Why? Because you can.
Positivity. The way you interpret life events will definitely influence your feelings because thoughts create emotion. As master of your thoughts, you can put a positive spin on whatever happens to you, which will improve how you feel on a regular basis. And, if you end up in a slump, remember that you will not ALWAYS be in that same exact frame of mind. Laughter, joy, and happiness are not far away because feelings are temporary and fleeting. The way you feel will inevitably change.
I’m a modern girl. I am so happy I live in modern times, and not in the Middle Ages. Life does not look so fun back then. Serfs under the feudal system worked long and hard, doing back-breaking work all day long. Women spent their days spinning wool and making clothes (seriously, can you see me successfully making clothes on a spindle all day? They’d throw me to the pigs). Only 50% of the people lived until 35, which is the average life expectancy of the time. There was no electricity and families lived in one room huts where 1/3 of the space was fenced off for the animals. The hearth in the middle of the room gave off heat, but the air was always smoke-filled. You get the idea.
Cave Girl? No thanks! I’m also glad I was not born a cave girl. With my horrible vision, I would have been TOAST very early on. By the time I was in 2nd grade, my teacher figured out I was very nearsighted. Today, I am considered legally blind without correction. So when I play out my pre-historic times life, I get this scenario, “That pile of leaves looks fun! One, two, three-JUMP!” Then, in midair, I freeze, “Oh snap! The pile of leaves just made a growling noise that sounds just like a sabretooth cat. Good-bye cruel world.”
The internet is amazing! Information 24/7 at your fingertips. And Skype helps connect to people far away, in the US and way beyond. Today, it’s so much easier to research a topic from home instead of going to the library, using the Dewey Decimal system to find a book on a topic of interest.Now, video call a friend or a relative….just make sure you are wearing clothes to be seen in, at least from the waist up!
Changing your first name is totally legal. Seriously, there are some parents who did not think straight when naming their child. Here are a few very unfortunate names I’ve found while browsing the awesome internet:
Preserved Fish (Thanks, Shirley!)
And, there are many, many more horrible names out there. Many of these names are found on prison warrants for arrest. Well, what did you think would happen when giving your kids such embarrassing monikers?
Evolution is Cool For example, giants do not exist. Bare with me on this one. I always wonder how many ants I’ve unknowingly killed. To an ant, I am a huge monster, with big, murderous feet. I am so thankful I am not a tiny ant, and even more grateful that giants exist only in folklore. Can you imagine if we had to be worried about being crushed by giants roaming the earth? That would totally suck. And on that same note, I must confess that I am happy the dinosaurs are extinct. I just could not deal with knowing that at any time, I might come across an enormously fast lizard with little tiny hands reaching out to devour me for lunch.
CMT Sucks! (Joyce Steinkamp, thanks for the lollipop idea!)CMT stands for Charcot-Marie-Tooth disease-a progressive disease of he the peripheral nerves. Know if you have CMT, there is much more information, research, progress and awareness of this very common, but rare disease than ever before in history. And our researchers are working day and night to provide treatments to stop CMT. Bottom line – hope is real. But, believing without acting will not get us over the goal line. So, if you really want to feel good about yourself, get involved in a charitable cause like the CMTA by volunteering, donating, publicizing, joining igive.com or amazonsmile.com (choose CMTA as your charity of choice). Be part of the solution – cmtausa.org
Her parents passed all the tests with flying colors and were deemed to be fit and loving. The arrival date was only 2 weeks away – just 2 weeks! So little time to prepare for the new little one – and right before the holidays, too – the best Christmas present ever!
I melted when I first laid eyes upon her – cute, energetic, friendly, outgoing and smart. But, she didn’t really look Tawainese. In fact, she did not look Asian….at all! First of all, she was black and had huge brown eyes. She understood a few English words and was not the least bit shy. I wondered who her parents were and how she came to this world. Whatever. In the end, it didn’t matter – she was now in a stable home with grateful and loving parents, relatives and friends.
Just last week, I offered to take her to the park for the morning. Now, it’s been a long while since I’ve had to care for a youngster, and I must admit feeling a tad bit nervous. With her bag chocked full of snacks, drinks, toys, etc, we headed to the playground. I lifted her into the back seat, strapped her in, and heard not a peep the entire ride.
“We are here!” I sang merrily. Once out of the car, she could not wait to join her friends in the yard. In fact, she was so excited, she darted for the playground, practically pulling my arm out of its socket. Once in the fenced-off area, I let go and she ran and played for well over an hour, pausing only to take a sip of water here and there. We had so much fun!!
“Who is that girl?” she asked, squinting warily while jerking her chin forward like a rooster, not so discreetly pointing out the slim, well-dressed woman in question. “She doesn’t have CMT! Look at those heels!! Pfft! Forget about it. She’s a fraud!” It’s true, Jeana did not appear to have CMT on the outside, but her past revealed a different reality. Surgeries on both feet when she was only 16 helped her gait immensely, enabling her to walk brace free today.
However, if you look real close, her pinky toes look funky, betraying a harrowing brush
with a surgeon’s scalpel. “No need to worry about the little toes on each foot.” the surgeon grinned. “I simply removed all the bones! All fixed!” So, instead of hammer toes, sticking up and out, she ended up with cute, floppy, puppy dog ear toes, which prove to be quite the challenge when wearing sandals.
People’s CMT vary dramatically from one person to another, and telltale symptoms of foot drop, muscle wasting, fatigue, pain are not always super obvious. So, to my embarrassment, I often forget she has CMT.
But, I forgot you have CMT!!
How many times has CMT gotten me into trouble? When Jeana and I organize CMTA conferences together, we always do our best to make sure that everything is handicapped accessible; tongs are not used, tables are separated, leaving enough room for scooters and wheelchairs to pass, boxed lunches are chosen over buffets. Inevitably, no matter how much we prep the hotel staff, someone always seems to make a mistake, and we have to think fast on our feet to rectify the situation.
At the Patient and Family conference we held in Los Angeles a few years back, I remember the room being stuffy and hot. After 90 minutes of sweating and fanning ourselves with the paper programs, we took our first 15-minute break. “A big round of applause for Dr. So and So…what an informative presentation!” I exclaimed into the microphone. “Now, let’s take a few minutes to stretch and quench your thirst with some nice, refreshing beverages. We’ll see you back here in 15 minutes.” I walked out into the hall, and what do I see? Big, heavy pitchers of water and lemonade. Merde!
We quickly asked family and friends without CMT or hand weakness to serve the drinks during the break. After about 5 minutes, I look over at the drink station and our beverage volunteer happened to have wandered off and just disappeared into thin air. People were thirsty….parched even and getting more and more impatient while shifting their weight from left to right, left to right just to stop from teetering over (keeping your balance while standing is difficult with CMT).
I ran over and filled the empty spot for a couple of minutes before my little eye spied Jeana, who was talking, and talking and talking (no surprise there, right?), to a conference attendee.
“Jeana,” I blurted out frantically and a bit too harshly, “if you can’t find someone to stay at the water station, just stand here and serve the beverages to these poor people with CMT who are struggling.” She looked at me in disbelief. Her face expressed what she was thinking. “Really? You are asking me to fill glasses, dumb ass? I too have CMT!” But being the mature and respectful person we’ve all grown to admire and love, she nodded her head and made her way to the water station and tried her best to serve our conference clientele. When I realized what I had asked of her, I regretted it….immediately. Not because I made her suffer, but because she would never let me live this situation down….EVER! As much as she did not say in the moment, she let her thoughts be known loud and clear after the conference. In fact, she won’t hesitate to bring this up when she needs a little extra material to tease me with. I hear her voice now, “Oh, really? I’ve got a better one. Elizabeth, remember that day when…. “
People with CMT are fighters with motivation, determination, strength, and willpower. Some are a bit sassy, too! One day, wearing my very concerned and sad face, I said something like, “Bethany, I don’t know how you do it every day. Just putting on socks, braces, and shoes takes so long. It all seems so limiting.” I was attempting, albeit poorly, to relate to her emotionally in some small way. Thankfully, I have a Master degree in Counseling Psychology, which makes communication with people from all walks of life so much easier (Like Judge Judy below, I’m inflicting some heavy duty eye rolling on myself right now).
If you know Bethany, she usually thinks through her answers before responding. Not that day! That fine afternoon she was quick and sharp, replying without missing a beat, “Yeah, it’s not the best, but I feel fortunate that I’m walking. From wheelchair to walking is a pretty huge deal.” There was a short hesitation before she emphatically reminded me that she was able to walk much further and longer than I can…a LOT further and a LOT longer. “You are limited by your foot pain. My braces have set me free!” she replied without flinching.
IN YOUR FACE! OUCH! Insert knife and rotate slowly 3 times. I mean, what do you say to that? ……..Exactly. I said nothing and followed her progress as she trained to walk a 5-day 40 Mile Trek of Peddars Way in Norfolk, England! She succeeded and came through with flying colors!
I had spoken over the phone to Bethany quite a few times before she moved to the Bay Area in 2012. We had some great conversations, talked about volunteer opportunities and CMTA-related projects. When she moved here, we made a lunch date. I drove. On the way to the restaurant, I asked 100 million questions to which she sequentially answered, “Yes. No, I don’t know” over and over again until I got really bad cotton mouth from talking too much. So, I stopped blabbering and lived painfully through seconds upon seconds of dreadful silence (The longest ten seconds I’d ever experienced – it felt more like 10 hours- can you tell I’m an extrovert and hyperactive?) Bethany started to loosen up by the end of lunch, and I caught a few glimpses of the witty and sardonic person living and breathing underneath that cloak of quiet reservation.
Heading back to the car, we crossed the road and I saw that she was struggling a bit to walk, but I did not know if she needed or wanted help. What to do? So, I did absolutely nothing. I pretended she wasn’t struggling and that everything was A-Okay. Walking a step or 2 in front of her, I heard a faint whisper, “Elizabeth?” I turned around to an outreached hand. “Can you give me your arm to cross the road?” she asked politely (her mother did a hell of a job teaching this girl manners). My elbow jutted out in a microsecond and off we went, arm in arm across the road. Walking harmoniously side by side, she interjected, with a mischievous grin,” Jeesh. You of all people did not think of lending a helping hand? I’m so disappointed.” WHOA! The girl is a live wire….a comedian! This snarky comment was proof that her dad was also very involved in her upbringing. From that moment on, we became forever friends.
Laughter Really is the best Medicine!
The CMTA held its first-ever leader conference in Las Vegas many years ago. Leaders from all over the US attended, forming bonds of friendship and caring. The first evening, after dinner, we all made our way to our rooms, preparing for a very long day ahead. Breakfast was at 8am sharp the following day. At 7 am, Pat D. our Director of Community Services at the time called me with an urgent request, “ One of our leaders needs help buttoning and zipping his pants.” Apparently, he lived with family and on his own, buttoning and zipping were practically impossible. “Why do I have to go?” I groaned. “Can’t we get Dana to go help him…man-to-man? Now, on the verge of yelling, Pat reminded me that, “Dana can’t button or zip his own pants, how is he going to button someone else’s pants?” Good point.
So, off I go to room 3016. When he opened the door, I could tell by his red cheeks that he was quite embarrassed. I felt a bit awkward, but what were our alternatives? I could have insisted that he attend the conference in his boxers, but I’m not usually that mean. So, I simply knelt down in front of him, (please do not visualize this scene!) zipped and buttoned him up and made a joke about the entire scenario. It was a true bonding experience. The rest of the conference was a no-brainer compared to that experience.
To all my friends with CMT, thank you for trusting me with your struggles, accomplishments, thoughts, and anxieties. And thank you for your patience. I’ve learned so much from every single one of you and continue to learn more every day. And, when I mess up, let me know – my closest friends don’t let me off the hook, why should you?
I’ve known Carly Siskind for at least 15 years. She is a board-certified genetic counselor who worked with Dr. Michael Shy at the Wayne State CMT clinic in Detroit (Dr. Shy’s CMT Center of Excellence is now in Iowa). Today, Carly is currently working at Stanford University and Hospital and Lucile Packard Children’s Hospital as a genetic counselor and still passionately works with people who have CMT. She’s on the CMTA’s Advisory Board, and she knows A LOT about CMT and genetics. She’s one smart cookie, so I asked her about the DNA testing company.
With all the news about potential drug therapies for CMT1A, I see a lot of people purchasing 23andMe tests to validate a CMT diagnosis. I wanted her opinion on the topic.
This is what Carly wrote,
23andMe does not look for CMT. It is approved to look at some other conditions, such as Bloom syndrome, but it does not do full gene sequencing of any conditions. In addition, it is not certified to be used for clinical actionability. If a finding is found at 23andMe, it still needs to be confirmed in a CLIA-certified ( Clinical Laboratory Improvement Amendments) lab in order to use the results for clinical purposes (such as treatment or clinical trials).
Genetic testing companies that do testing for CMT are CLIA certified, meaning that they pass government inspection of their processes and prove that they can perform the specific test with almost zero false positives or negatives (genetic testing has a 99.9% success rate). These labs also have specialized individuals who work on variant interpretation, with intimate knowledge of the genes and variants tested. The genetic testing itself is not usually the hard part – it is usually the interpretation. Having a specialized team that works on the interpretation is of vital importance to getting accurate results that provide personally and clinically meaningful results to patients and families.
Genetic testing does not need to be expensive. Check with your healthcare professionals about different laboratories that will try to make testing be a low of a cost out-of-pocket to you as possible. Many insurances will cover genetic testing, particularly if it will change management, or if for family planning purposes. You can find a genetic counselor at www.nsgc.org.
So folks, if you want to know what subtype of CMT you have, a DNA kit from 23andMe is not the answer, nor will it save you money on genetic testing. The results will not be accepted as proof of a CMT diagnosis when clinical trials are available. Genetic testing for CMT has changed. At one point, a few genetic testing companies, like Athena Diagnostics had the market on genetic testing and a full panel could cost between $15,000-$20,000. THIS IS NO LONGER THE CASE!! Please go to the CMTA website for more information about genetic testing for CMT!!
And thank you, Carly, for such valuable information!!
PS: Just to specify, I purchased a 23andMe kit quite some time ago to better understand my roots. Although my ancestry reports are quite boring – I am 100% European – it was extremely interesting to see where my relatives came from and the voyage they made. I happen to be less Neanderthal than 73% of all people who have taken the test, which made me feel good in some weird way – maybe a bit more refined (listen, it’s good for my self-esteem).
The biggest quandary I faced was to decide whether or not to look at some of the health information, including my risk for Parkinson, Alzheimer and other scary diseases. It’s like having 5 boxes, decorated in attractive glitter wrapping you go by every day. You can open them at any time, but one or all might, just might contain unsettling news – like finding out that you have a genetic variant that may increase your risk of developing certain health conditions. It’s such a personal choice. What would you choose to do? Do you want to be in the know, or not?