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How We Make Our Own Hope Amidst an Ultra-Rare Charcot-Marie-Tooth Diagnosis

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Each time I turn into the hospital campus where my daughter receives much of her care, we take a right onto “Hope Avenue.” I’ve made this turn more than a hundred times over the past 11 years. Seeing that word hanging up there can sometimes feel comforting, but mostly it feels like a cruel joke, the stark-white letters jeering at me with each arrival. My husband and I have been witness to years of watching our youngest daughter experiences an unrelenting, deadly disease. No treatment. No cure. No hope.

A little over a year ago we received the news that our then 10-year-old daughter, Talia, had an ultra-rare form of Charcot-Marie-Tooth disease: CMT Type 4J (CMT4J). With only 22 known cases in the world, we had difficulty finding any current research. There were no clinical trials. What little we did find described CMT4J as being similar to ALS and potentially fatal in most cases.

The process of CMT4J lies in a mutation in a single gene — the FIG4 gene on chromosome six. A mutation results in the loss of a critical protein, causing a proliferation of bubble-like vesicles that build up like garbage within the cells. The “garbage” overwhelms the cells, causing them to die, taking with them the protective covering on nerve cells, known as the myelin sheath. Nerve-muscle connections die, which results in progressive weakness. CMT4J can cause paralysis to the limbs, weakness to the trunk and respiratory muscles and those involved with swallowing or chewing. Joint deformities and chronic dislocations can occur, often requiring multiple surgeries. Scoliosis, an abnormal curvature of the back, is common. Less commonly, sensory issues can occur, causing either pain or loss of touch.

A health care provider myself, I found it incredibly difficult to wade through the few case studies we did find. It did seem there was a high degree of variability in the way CMT4J presented, something common to many rare diseases. Our girl had lost the ability to walk. Shortly thereafter, her right arm began to grow increasingly weaker, to the point where she could no longer lift it from her side, could no longer feed herself, hug or high-five.

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We were told there was nothing to do. We watched it rapidly progress to her other arm as well. She had already lost much of her core, chest and neck strength after a surgery a few years earlier. She could no longer turn over in bed or sit up by herself from lying down. Research suggested that breathing and life-threatening respiratory compromise was likely to follow. “How does one do this?” I thought. My medical training had taught me there was nearly always something to be done. How could there be nothing?

Rare disease diagnoses often involve years of missteps and wrong turns. And often when a diagnosis finally does come, the devastating reality of its clinical path — and that no treatment exists — can be even more difficult to take than no diagnosis at all.

CMT4J is one of the rarest of rares. But there did seem to be some research out there. Someone was interested in it. We quickly set out to find those people, ultimately discovering that, in fact, one of the lead researchers in CMT4J truly believed there was, indeed, a cure. A cure?! We had journeyed for the previous nine months hoping to find someone or something that could help our daughter. But a cure? Did we finally have some hope?

The suggested cure was with gene therapy that could halt and even reverse the effects of CMT4J. But we would quickly learn it was something we would need to develop and fund ourselves — or wait eight, perhaps 10 years for researchers to take on. Talia didn’t have that kind of time.

With no time to lose, we contacted parents of other children who had formed rare disease foundations. We quickly formed a foundation, CureCMT4J, modeled our approach to gene therapy after their own and began to tap our friends and family members in an effort to create a team of experts to help us down our path. Shortly thereafter, we recruited and gathered a team of clinical and research experts — those who knew the most about CMT4J or the FIG4 gene mutation that caused it. Much to my surprise, most of them not only agreed but were enthusiastic and willing to hear our plea to reach a small clinical trial in the shortest time possible.

In three short months we had our team. These incredibly smart and generous researchers hailed from Vanderbilt University, Johns Hopkins, the NIH, University of Michigan and the University of North Carolina at Chapel Hill. We met and agreed upon the path toward a treatment or cure with gene therapy. We would learn, serendipitously, that our pre-clinical work — the science we needed to prove in mice before going on to humans — would all be covered under an NIH grant with our researchers at Jackson Labs.

And during that time we watched our daughter grow weaker. She went from using a little, yellow walker to using a wheelchair. She went from giving high-fives and hugs to her beloved teachers and classmates at her school to not being able to lift her arms off her chair. She spent her 11th birthday party with friends sitting quietly, half-smiling at the jokes of her friends, all the while struggling to breathe but not wanting to tell us.

The irony of working so fast to begin the science is that now it seems we wait endlessly. We wait for our mice to grow and multiply. We wait for the viral vector to be injected in just a few short months. We wait for the much-anticipated data — our proof of concept — to begin to take shape just a few weeks later. And we wait for the necessary funds to be raised to get our girl and others with CMT4J to a small clinical trial.

The $1-3 million price tag parent-driven rare disease foundations have to shoulder themselves to get to a small clinical trial — to save their child’s life and other children’s lives — is often the greatest obstacle. Ultra-rare diseases seemingly affect so few people that it is difficult to attract pharma and biotech from a financial perspective. But the science — the approach with gene therapy — is translatable to countless other rare diseases.

We’ve gathered the world experts. They’re invested and so excited to be a part of our efforts. The timeline we’re striving for is truly remarkable, and they’re on board. We have no choice but to move quickly. We are in a race against time and money.

These days, when I turn right onto “Hope,” I don’t feel quite as intimidated by its allure. I can safely say that in addition to Hope, we have science and expert researchers to get us through this. I take a deep breath, keep moving forward, and hope that we can get there in time.

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How I Stay Upbeat Living With an Unpredictable, Progressive Disease

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I was diagnosed with Charcot-Marie-Tooth disease when I was 5. It is a progressive neurological condition that destroys the neural pathway from the brain to the muscles, causing atrophy, weakness, pain and numbness as well as lack of balance. It primarily affects the arms and legs but in some cases, it can also affect breathing and swallowing. CMT is a genetic disease that affects 2.8 million people.

When I was diagnosed, it was predicted I’d be in a wheelchair by the time I was 20. I far surpassed that, but things have progressed over the past decade to the point where I’m now falling and breaking bones. It’s gotten to the point where I need to rely on a motorized wheelchair to safely get around.

That’s been a challenging fact to absorb. I’m 46 and should be in the prime of my life, but I struggle to walk across the room. At times I deal with a considerable amount of depression, and it has been difficult to deal with the fact that I’ve been dependent upon others to leave my house for the past six years since I stopped driving. Despite these facts, I’m typically a very positive and upbeat person. I’m constantly asked how I stay so strong and how I cope with these tremendous challenges. Well, the best ways I’ve found to curb my own depression are to focus on helping others, to immerse myself in creative hobbies, and to spend as much time in nature as I possibly can.

Eight years ago I started a Facebook page called Words of Kindness. I was going through a particularly dark time and started reading inspirational stories and quotes just to get through the day. I realized they became my lifeline, and if they had the power to lift my spirits, I needed to share them with the world. The feedback has been overwhelmingly positive and every week people around the globe are reaching out to me, often with inspirational stories of their own, and telling me how much the kind words have helped brighten their day.

I’ve recently taken up painting and have found it to be an incredibly therapeutic hobby. I’ve made it a goal to spend at least a few minutes a day doing something creative, even if it’s just splashing some paint down on a canvas to come back and finish later. I’ve also renewed my love for writing through this awareness campaign and plan to continue on a regular basis.

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Two years ago I decided to pursue my passion for nature and gardening and to further my education by becoming a certified permaculture designer. I’m in the midst of designing an eight-acre food forest complete with disability-accessible trails throughout the woods, orchards, gardens and fish ponds. Eventually an off-grid greenhouse and small accessible house will be added. The goal is to eventually have this site open for tours and educational workshops to teach others how to reconnect with nature and grow much of their own food, even in a zone 4 cold climate. Being stuck at home so much, I’ve learned that being more self-sufficient and surrounding myself with nature has got to be a primary goal for my own happiness and well-being.

To be able to continue my work as a permaculture designer, I am in need of a specialized 4-wheel drive motorized wheelchair that has the ability to safely and reliably handle various terrain, slope, sand, snow, grass and gravel. I’ve been looking at the 4-wheel drive Extreme X8 wheelchair as a solution and an accessible vehicle to be able to access job sites, medical appointments and run errands.

Although I feel like I’m running out of time with the progression of my disease, I have faith that the universe wants me to be mobile and living a life I’m passionate about. I’ve learned perseverance is critical, and if I can pull this off, there’s no telling what I’ll be able to accomplish once I can break free from these four walls.

I’ve always felt that things happen for a reason, and there’s no sense going through trials and tribulations unless we learn from them. I’m still learning from this, and I’m excited to see what’s in store for my future. I’m thrilled to be able to bring awareness to Charcot-Marie-Tooth disease and hope one day there is a cure.

Learn more at Words of Kindness.

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Why It’s Never ‘Just a Cold’ When You Live With a Rare Disorder

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Winter is notoriously known as cold season, meaning people will likely catch a cold or become sick with a flu virus at some point. It’s next to impossible to avoid being exposed to cold-related germs. Schools, malls, offices, medical waiting rooms and more are all environments where potentially contagious germs lurk.

Unintentionally, people plant the seeds of sickness among each other in everyday life, and festive celebrations, such as Christmas and New Year’s, can increase the chance of catching a cold tenfold.

No one enjoys having seasonal illnesses, but most people aren’t afraid of catching a cold. They expect its effects will be short-lived, and as a result, attempt to maintain their routine, despite having low energy and coughing and sneezing. It’s inconvenient but it will pass.

An important part of recovering from a cold is having the ability to cough up and clear away phlegm and mucus from the lungs. For most people, this is an automatic function as easy as blinking. No thought is required — coughing is simply a triggered reaction.

Of the many losses associated with the progression of my Charcot-Marie-Tooth disease, not being able to cough productively is by far the most dangerous. To me, a cold is anything but simple because it can escalate to pneumonia very quickly.

I long ago lost the ability to “belly breathe” — those muscles have atrophied — which is why I require the assistance of a BiPAP ventilator to keep me breathing while sleeping.

However, when my airway is congested by the presence of a cold, the support I usually glean from my BiPAP is threatened. My ability to cough is so weak that doing so makes things worse as mucus gets stuck; I don’t have the power to push it up. This makes for frightening choking episodes, and I feel like I am drowning. In fact, I have been known to collapse a lung just from continuously trying to cough, and I’ve been hospitalized with pneumonia on several occasions.

Now that winter is upon us, I am on high cough alert. It’s odd because, on one hand, I admire the sound of a strong cough, and yet, at the same time, my internal fight or flight mechanism reacts as though a gunshot has been fired and I must get away from danger.

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Short of placing myself in a bubble, I am cautious about attending events during the winter, and, of course, anyone who knows me stays away when they “just have a cold.”

Seniors and others with invisible and visible illness are vulnerable during the cold season, too, so in addition to being kind to yourself when you do catch a cold, be mindful of those around you.

Follow this journey on Susan Wheeler-Hall’s website.

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How Music Helps Me Manage Life With a Neuromuscular Disease

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There are a multitude of therapy options geared to aid healing and managing chronic illness. Most require a fair bit of effort and possibly some pain. Music, on the other hand, is one therapy that can offer physical, mental, emotional, social, and spiritual benefits to almost anyone.

Well-trained music therapists use music interventions to accomplice specific goals in the quest to improve lives. This modality is becoming increasingly relevant when treating people with speech and memory conditions such as stroke and dementia.

According to the Alzheimer’s Foundation of America, “When used appropriately, music can shift mood, manage stress-induced agitation, stimulate positive interactions, facilitate cognitive function and coordinate motor movements.”

Our brains are wired to respond to music even though it’s not essential for survival. I bet most of us experienced music before we were able to speak by hearing lullabies or musical toys meant to calm or entertain us. Today, maybe you listen to soothing meditation sounds, your favorite radio station or streaming service or get out to hear live music in a local venue or music festival.

Our neuromuscular motor system naturally moves to a rhythmic beat. When our nerves are triggered by sound, we want to assume the vibe or groove. Now, I may be dating myself, but I recall how quickly my teenage friends and I dove onto the dance floor whenever we heard American R&B band Chic tell us all to Freakout! at the start of their 1978 mega-hit Le Freak. And the fitness industry also capitalizes on music-based exercise programs to accompany Zumba and aerobic classes. Who says losing weight can’t be fun? Dance and fitness classes are beyond my ability level at this point, but listening to, and attending music events are key activities that help me to manage my emotional mood and physiological outlook with respect to my disability.

Music has an amazing ability to transform our emotions and memories by taking us on an omnidirectional roller-coaster. In fact, music is second only to our sense of smell for its ability to stimulate memories. On a social level, music is a great equalizer for audience members; everyone is there for enjoyment. It’s non-invasive and yet can also be powerfully motivating.

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As a person who cannot sing, dance, play an instrument or hold a tune of any kind, I especially enjoy live shows — but all too often I bump up against the issue of accessibility. Not all venues are wheelchair accessible, and municipal building regulations have yet to comprehensively enforce public access requirements. Nonetheless, I attend as many shows and festivals as I can, and for my disability, music is my therapy of choice.

Follow this journey on Susan Wheeler-Hall’s website.

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What Nobody Told Me About Living With a Progressive Disease

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When I was a mere 9 years old, I was officially diagnosed with Charcot-Marie-Tooth disease (CMT). My mother, who was misdiagnosed with polio, which is not a genetic disease, noticed early on that I displayed a weakness in walking. I don’t remember when the doctor visits and medical tests began, but I do recall being confused because I felt fine, and yet my mother seemed upset.

It was then, at age 37, she learned that she, too, had CMT and unknowingly had given it to me and one brother. CMT didn’t preclude my mother from developing other medical problems, and, sadly, she died at the young age of 39.

As I matured, doctor visits morphed into surgeries, various forms of therapy and the inclusion of devices and gadgets.

Every expert or medical specialist has their own explanation about my disease, but three things are consistently agreed upon: There’s no cure, it’s unique to each individual and it’s progressive. Two of these three points of reference I can comprehend.

No cure. This is straightforward. There is no known quick or long-term “fix” for this condition.

Unique. CMT has many types. Even within the same type, no two people are alike. This is true for my brother and me. We have similar, yet different, symptoms.

Progression. As it relates to my disease, this is the one reference that I find curious and frightening at the same time.

Curious because in most instances, progression is considered a good thing. It’s a movement of sequential steps that leads toward a destination or development. Academic or career progression is a good example. In the medical field, however, the term progression is ambiguous and can be mind-bending.

For example, when I took physiotherapy into my own hands in an effort to regain my strength after needing to use a wheelchair for two years, I recall being told, “You’re making progress, but remember that your disease is progressive.”

Huh? Luckily, I’m not one to give up.

Clearly, no one knows what’s around the corner, and it’s easy to fear the unknown, but I’ve learned to separate the wheat from the chaff whenever professionals discuss the “potential” progression of my disease.

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It’s true that I continuously experience a progression of symptoms and a limiting of abilities, and it’s also true that I am not alone. Progression is a reality for many diseases.

Like aging, the progression of my CMT is inevitable, and I find comfort in the fact that I’m still aging.

Nobody tells you that living with a progressive disease can be enriching, but if you believe you are not your disease, it can be.

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What I Wish People Understood About Charcot-Marie-Tooth Disease

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I live my life with a disability that affects the way I walk and my ability to get around. Many people who meet me wonder what happened – was I in an accident, or did I have a severe back injury? When people inquire, I usually tell them I have a progressive neuromuscular disease, and prefer to leave it at that.

Actually, I have CMT, which stands for Charcot-Marie-Tooth disease – and no, it has nothing to do with teeth. It’s a progressive genetic disease that I inherited from my late mother. It’s a disease that affects families; I have one brother with it, and another who does not. I try not to get into what “Charcot-Marie-Tooth” is, simply because it really makes no sense as a stand-alone name, and can often cause confusion. When people hear the last word, “tooth,” they often ask: “How can a tooth disease impair your ability to walk?”

At this point, I explain that Charcot-Marie-Tooth is a combination of the names of the three doctors who originally described it. Personally, I think these doctors must have had large egos. It’s one thing to put your name on a library or medical building, but a disease? I just don’t get it.

Once we move past the name, the next hurdle is, “I’ve never heard of it, it must be rare.” Oddly enough, it is not rare, as 1 in 2500 people experience this condition. In fact, it is considered to be a common peripheral neuropathy – meaning that it’s a condition that affects the nerves in the body – mainly those that power the muscles, rather than in the brain. Unfortunately, I still encounter physicians and heath care providers who have either not heard of the condition, or know of it and have not met a patient with the condition. Those who do have some knowledge of CMT are often further perplexed, because in their mind, I don’t fit the profile. My symptoms affect my physical abilities far more than what is considered to be typical of a patient with CMT.

There are several forms or types of CMT, and the most commonly recognized are CTM1, CMT1A and CMT1B. These types vary in onset and severity but are characterized by a slowly progressive muscle weakness, atrophy, and changes in sensation – and generally, the condition affects the feet, lower legs, hands and forearms. This group tends to experience what is known as foot drop. Affected individuals tend to have an over-exaggerated step where they lift their foot higher than normal to avoid tripping. They also often have high-arched feet (what they call pes cavus), and may also experience some numbness. It’s not unusual for people with this type of CMT to not know they have the condition until later in life, and this may occur after they themselves have had children.

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Through research, more types of CMT continue to be identified. We now have CMT1, CMT2, CMT4, and CMTX-6. I’m not familiar with CMT3 and CMT5 but they do exist, as well as CMTDI, CMTRI, CMTX – apparently we’re up to nine genetic subtypes! The more we understand the underlying genetics – the more we are able to separate them into different types. Suffice to say it’s all a bit complicated.

The bottom line, the higher the CMT type number, the more likelihood symptoms will be more severe, onset will be earlier, areas affected may be larger, and progression may be faster. Recent studies also show that CMT, as an inherited genetic disease, can affect people quite differently. My brother and I were both diagnosed with CMT2E, but we have differences in our disease expression.

Unfortunately, as yet, there is no cure for this progressive disease. Nonetheless, the growth in scientific knowledge – particularly in the field of genetics, over the past two decades has been very promising, and thankfully, there are some dedicated organizations that continue to push for research. In my own way, I humbly thank them.

So, what do I tell people? When asked, I filter my answer based on careful discernment. My response will depend on who’s asking, why are they are asking, and frankly, what’s in for me.
For example, a medical professional, business acquaintance, a new friend, or a total stranger will all get different answers. Medical professionals get the whole enchilada, as I know it. It’s my chance to impress them with my knowledge. I also get the chance to tell the story about how I was treated as an investigative guinea pig as a child. I can’t count the number of times groups of doctors in white coats stood around me while I sat in my underpants, being pushed, poked and prodded and hit with tiny rubber hammers.

Business acquaintances get enough information to know that my capabilities are greater than my challenges. In a customer service situation, I provide clear problem and solution information. For example, when arranging a hotel stay, I alert staff to my impairment challenges and tell them the accommodations I require to ensure my safety, comfort, and satisfaction is not compromised. New friends get the basics, but receive more information as our relationship develops. And total strangers, well they receive a vague acknowledgment followed by a comment about the weather in an effort to gracefully change their focus.

Now that we’re friends — after all, you’ve read this far — I’ll explain how CMT affects me. My progression continues, but at this point, my walking is very limited and aided by a walker. I use a scooter, drive with hand controls, type with three fingers, require a breathing ventilator at night, wear AFO’s (leg braces), have poor circulation and swelling of the feet. I also have occasional challenges swallowing, and vocal muscle paralysis which leaves me with a soft, quiet and (so I’m told) sexy voice. Over the years, I’ve learned that how I talk about my experience with CMT is more important than the name itself.

Living well when unwell is challenging, but it is also possible. In fact, I teach a 6-week facilitated online course, 4 times a year, on just that.

If you’d like to learn more about CMT, I’d recommend you visit the Hereditary Neuropathy Foundation website, as they do a great job of providing information for both physicians and patients.

Follow this journey on Susan Wheeler-Hall’s website.

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