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What Many People Don't Know About My Charcot-Marie-Tooth Disease

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Do I want to go hiking with you? Yes, but the bigger question is, can I do it? That is always the question I have to ask, as well as: will it be steep? Is it narrow? Is it rocky? You see, these things scare me and make it even more difficult for me to attempt to hike. I truly want to, but I probably cannot go with you.

I know, looking at me you may not even realize I have a disability. Then I get up and walk. That is when you see the awkward unbalanced gait, slight limp and drop foot. You may even want to ask, but you don’t. You may feel sorry for me; please don’t. You may want to help; I am getting better at accepting that. You may wonder what happened to cause me to have such a funny gait. Nothing happened; I was born this way.

Growing up with Charcot Marie Tooth disease (CMT), my parents never let it hold us back. My brother and sister played in Little League and my sister and I were in dance until we each had back surgery. In 1986, I had scoliosis surgery. I have a stainless steel rod from the base of my neck to the base of my spine. Yes, it is connected with a nut and bolt mechanism. No, it does not hurt. I can not really bend from the waist or arch my back. I do not really miss doing that, though. There are certain things that are more difficult, but my parents taught us to do the best we can and that it does not matter if we are disabled.

Thankfully, I have friends who understand my limitations due to CMT and back issues. They know it’s not that I do not want to go to the ball game, it is just the thought of those steep scary steps. They understand that I need to use my cane when walking great distances and/or on uneven surfaces. They understand that I can not lift or move that heavy box.

What they don’t understand is how it makes me feel. They do not know because I do not tell them. I do not tell them it makes me feel helpless when I cannot walk up the steep staircase without assistance, or get into the pool with no railing or hand to hold. They do not know how jealous I am that they can just jog up or down a flight of stairs without a railing while I am standing there trying to figure out how to navigate those steps. They don’t know it saddens me that I cannot run and play with my son. (He understands, but it still makes me sad.)

I am jealous that my friends can go into a store and just buy a pair or two of shoes. I cannot even think about doing that. Instead I need to go to a special store and try on endless pairs of shoes. If I am lucky, I find a pair that is sort of comfortable and maybe under $150. I am jealous of people who can wear cute shoes and flip flops — silly, I know, but it bothers me. I cannot even really wear sandals anymore and that makes me sad; I love sandals in summer. I am coming to terms with comfort and support over fashion. It is not easy, but I am working on it. If I am being honest, I hate my feet, curled toes, high arch and bum ankle. My feet are icky — thanks CMT! Yes, I love your cute pedicure but it makes me mad that I cannot really get one or show it off. You see, I am embarrassed about my feet and am not comfortable showing them to others. I know my friends won’t care, but I do.

My friends may not know how much CMT impacts my life because I do not think they need to know. They are supportive and helpful and know when I cannot do something, I truly cannot. You see, I do not use my disability as excuse. I never say I cannot do that because I am disabled. Instead, I do it to the best of my ability. I do it with limitations. So instead of taking the 3 mile hiking path, I opt for the 1 mile path. Instead of going nonstop all day, I build in breaks and rest time I know I will need. If I am doing something more tiring on Saturday, then Sunday is a rest day. I have learned I need that rest time to recover and heal my body. I am learning to listen to my body — not always the easiest thing to do.

So, when you ask if I want to go somewhere and I hesitate, please know it is not that I do not want to go. It is just that I need to weigh the pros and cons of the suggested activity. I do not want to hold you up or slow you down. I know in my heart that my friends probably won’t mind, but convincing my brain of that is not always easy. I ask for your understanding and support as I navigate the progression of CMT. I ask for your patience as I navigate the unknown aspects of this disorder. Most of all, I hope you know how much I treasure your love and support.

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Thinkstock image by Mike Watson.

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To Tell or Not to Tell People About My Neuromuscular Disorder

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To tell or not to tell people about my disability — that is always the question. When I first meet someone, how do I know how they will react to it? How can I be sure they will not laugh or turn away? It is not easy to tell people you just met why you walk “funny.”

When I do tell them I have a neuromuscular disorder, they often ask the name. So, I tell them I have Charcot-Marie-Tooth disease. The next question is inevitably “Shark what?” Or “are your teeth affected?” It has nothing to do with sharks or my teeth, but I can see why they ask. It is a pretty strange name for a disease. People often ask “Is it curable?” No, not at this time. Then they want to know if I’ll “get better.” Not unless they can find a way to stop or slow the progress.

Then of course, there are the questions about how it impacts my life. That is the one I do not really like to answer. CMT has a huge impact on my life. It affects how I function in everyday life. Is it the worst thing? No, but it does make things more difficult. It affects my ability to walk far or on uneven surfaces. Since I have no position sense in my toes, unless I am looking I cannot tell that if the ground goes up or down. Therefore, I can trip on “thin air” — yes, it is a talent of mine. CMT makes standing for long periods difficult and it’s hard to balance while standing, which can be an issue anywhere one needs to wait or stand for a while. Amusement parks are tough; it is hard to do all the walking and waiting in line. I have started using a cane more and more, which of course leads to more questions. I am learning to accept the fact that I need it for safety and should not care what others think.

CMT also impacts my ability to walk up and down steps. Oh, how I dislike steps; falling up steps is always fun. It is always interesting to try to explain that one to people. I cannot carry anything heavy up or down steps. And forget about even using the steps if there is no railing or wall to hold onto. I have to find another way to get where I need to go.

I am never sure how much to tell people or what to say when they ask questions. I never know what to put on my profile on a dating site. How much do I say? If I say nothing and then meet the person, they see my funny walk and are often put off. If I do say anything, they usually are no longer interested. I guess it is better to know right away if they are OK with the idea that I may use a cane at times, and scaling a mountain is probably not going to happen.

It is hard to be a single mom with a disability. It is hard enough to meet people; then add in a disability and it’s even harder. I wish I knew why some people are so afraid, unsure or just do not want to take the chance. I have found that people are either interested in knowing more about it or want nothing to do with it. I am very careful about what I say and how much I say. I tend to just keep it to the basics when someone does ask, because I am afraid of what they will do. I often wonder if I should have told them about it, especially if they show pity. I do not want pity, just understanding and acceptance.

To tell or not to tell may always be an issue for me. Perhaps I need to be brave enough and strong enough to take whatever reaction they give me. Yeah, easier said than done, I know. I guess I need to work on not letting their behavior bother me, and just move on.

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Breaking Down the Barriers of Charcot-Marie-Tooth Disease

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Kristin is redefining what it’s like to live with Charcot-Marie-Tooth disease.

Determined to be seen for who she is, rather than her disability, Kristin faces the daily challenges of CMT head on with grace, dignity and perseverance.

Kristin’s story not only shows us how she is redefining herself, but how she is giving others living with CMT the courage to do the same.

Let’s learn more about Kristin and how she’s breaking down the barriers of CMT.

HNF: Tell us a little bit about yourself…

Kristin: My name is Kristin and I live on Long Island, NY. I enjoy kayaking, swimming, taking walks with my son and dog, fishing and doing anything outdoors. We go on bike rides, walks on nature trails and play in the snow. My son keeps me busy and I love every minute of it.

HNF: When were you diagnosed with CMT?

Kristin: When I was in my 20s my doctor knew I had a neurological illness, but he didn’t have a name for it. There were lots of tests and head-scratching because I wasn’t fitting into a neat little bubble of “symptoms.” I was maybe 29 when I really needed a diagnosis. I was pregnant and I wanted to know if this disease could be passed on to my son. I was finally diagnosed with Charcot-Marie-Tooth. But it wasn’t until recently I found out I had CMT4 as my sub-type.

HNF: Do other members of your family have CMT?

Kristin: I am the only one I know of who has CMT. I sincerely hope it stays this way. I suspect that some family members may have it, but just aren’t ready to hear it.

HNF: What challenges do you face with CMT?

Kristin: My doctors suggested I stop working in EMS and find an alternative. I changed my career path to Social Work. Since my balance is severely affected, I walk with loft strand crutches to get around safely. It’s hard finding a job and not being considered a liability, especially in my field. I have trouble with people seeing me for me, and not my disability. I’ve made it my mission to try and educate and bring awareness to those who have disabilities. I don’t think anyone should ever have to feel left out or somehow different just because of a disability. It’s something I am constantly instilling in my son, and hope he never has to face it himself.

kristin and her son

HNF: How has CMT changed your life?

Kristin: Well, I suppose I can say it’s been changed for the better and for the worse. After my health began to deteriorate, I came face-to-face with several life-changing events. I was told to use a wheelchair because I was so unsteady on my feet. Falls for someone in their 20s aren’t usually a big deal, but I had a degenerative bone disorder from high doses of steroid medications. My risk for fractures was too high. Going from being able to run, ski, bike to now having to sit in a wheelchair takes a toll on you emotionally. I’m not one of those people who can say I knew I had it when I was little. I didn’t even know what CMT was until I was in my 20s. I had a normal childhood, played sports competitively and used to go on ski trips with my family. This was the kind of the life I envisioned giving to my children one day. I went into a really deep depression when I dropped out of nursing school and was trying to figure out my next step.  When I met my husband, he knew I had medical problems and it never phased him. I was never lucky enough to meet someone so understanding and compassionate. I had already started applying to schools and he helped me decide which one to go to. He was happy for me. I didn’t feel like I was even worthy of that happiness. After a few years of dating, I moved in with him to finish my Master’s so we could work on the house we were moving into, pay for our wedding and eventually have our son. I don’t think any of that would have happened if I didn’t have CMT. Sometimes it’s easy to lose sight of that. Now having a toddler around the house, I yearn for a normal life for him. I push myself to be a better person, to not accept those limitations infringed upon me by my doctors and thrive to give him the kind of life I hope for him. Having CMT has given my life limitations. Life gives us all limitations and I think it’s up to us to decide how we live.

 

 

HNF: What advice can you give to others living with CMT?

Kristin: Ultimately, regardless of your type, whether you were born with it or not, we are all affected in some way. We cannot let anyone decide our future for us. We have to take a hold of what we are given and strive to be better. It doesn’t mean you have to be a fitness guru, or go to the gym seven days a week. It just means you know what you want and never give up. We may have to work twice as hard as the next person, but when our goals are achieved it feels that much better when you achieve them, instead of giving up when it gets hard. Don’t let anyone ever dictate who you can be, or what you can do because of CMT. You can figure out ways to do what you want to do.

HNF: What’s a favorite quote you think of often?

Kristin: “We all have our own limitations. We can decide to live within those limitations, or we can break down those barriers and redefine who we are.”

redefine yourself. CMT can cause limitations and you can decide to live within those limitations, or you can break down those barriers.

To date, there is no treatment for CMT4 and the prevalence is unknown. If you have been diagnosed with CMT4, please consider joining the Global Registry For Inherited Neuropathies (GRIN).

The registry collects the clinical and genetic information on patients diagnosed with the various forms of inherited neuropathies to help advance therapy development for these debilitating disorders.

For more information on the Global Registry For Inherited Neuropathies and to join The Patient Clinical Registry, click here.

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Why I'm Finally Opening Up About Having Charcot-Marie-Tooth Disease

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Joy Aldrich of Seattle, Washington joined Hereditary Neuropathy Foundation as Advocacy Director to focus on the growth of HNF’s online support resources for CMT patients and caregivers and to advocate for patient recruitment in clinical trials through Global Registry for Inherited Neuropathies (GRIN), a patient clinical registry.

joy aldrich

I’ve tried hundreds of different versions of my story to try to get people to understand. “I walk funny because I have Charcot-Marie-Tooth, also known as CMT. It’s named after the three doctors who discovered it. It’s a type of muscular dystrophy – but not really… It’s a genetic, progressive, neuromuscular disease that affects my legs and feet, arms and hands – and my diaphragm. It makes me tired. I’m sometimes in a lot of pain. Currently there is no treatment or cure. It’s just something I am living with.” Blah…blah…blah. I can see the person I’m talking with zoning out and I know I’m losing him. That’s hard because I’ve only just recently opened up about my CMT. I want my friends, family and the world to understand why I have struggles and limitations.

I’m 46 years old, and I was diagnosed at 13 years old. It’s been a secret I’ve kept hidden for 33 years.

CMT is by definition a rare disease, affecting fewer than 200,000 people in the U.S. Before the diagnosis, I tripped and fell a lot. When the pediatrician tapped on my knee to test my reflexes, nothing happened. (I always thought he just must be seeing something I didn’t see because he looked puzzled, but then moved on without commenting.) I was constantly spraining my ankles and bandaging my knees from falling so much. Finally, the CMT diagnosis explained it. But it certainly didn’t do anything to help the situation other than confirm I had a serious disease that would continue to burden me. I became a master of making excuses for why I couldn’t join in activities like volleyball, jogging, aerobics, hiking, walk-a-thons and much more. Social events even upset me, and I became more isolated.

 

It wasn’t until my disease progressed to the point that I needed braces to help me walk that I could no longer keep my secret. While researching online for bracing options, I discovered the advocacy organization Hereditary Neuropathy Foundation. In finding the foundation, I realized I wasn’t alone: Many others felt as I did. I agreed to conduct a letter-writing campaign, letting friends and family know about the diagnosis and why I wear leg braces; doing so helped people understand why I made changes in my life in order to adapt to my CMT.

I even told my family doctor about my diagnosis – something I hadn’t done before and something that was a big deal since that meant it would be documented in my medical records. (I had been warned about the documentation of a pre-existing condition causing problems with insurance since the day I was diagnosed. Hopefully, that’s not an issue any longer.) He took the time to research the disease and to listen to me when I shared how the disease had progressed and was affecting me, and he even offered some really good suggestions. Together, we are both optimistic about the first potential treatment for CMT1A, the most common form of CMT. The drug is PXT-3003, which is being developed by Pharnext, an advanced clinical-stage biopharmaceutical company. I’m excited, and I look forward to the results of the phase III clinical trial later this year.

When I opened up about my story, I thought I was letting go, but I was actually just finding a different way to manage my feelings. The outpouring of support I received gave me the confidence and empowerment to get even more involved in raising awareness and money for “the biggest disease no one has ever heard of.” I’ve raised funds for HNF, written a few awareness articles, and participated in public service announcements for CMT Awareness Month, which is September.

Letting go of the secret allowed me to heal and focus positively on my CMT and all that goes with it. I committed to a low-carb diet plan combined with very moderate cardio activity, and I’ve lost a lot of weight since August. I’m more happy than I’ve been in years, and I’m proud to now let people know all about CMT. I’m still working on how to best tell my story, but that will come in time.

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Balancing Life as a Cancer Survivor, Mom, and CEO With Chronic Illness

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This article was originally published on Patient Worthy, on May 19, 2017 by Jean Martell. It has been republished here with permission.

Moms: The ultimate multitaskers.

Whether they’re stay-at-home moms or working mom, these strong ladies have a way of getting stuff done, come hell or high water – or a chronic condition.

Cue Allison Moore, who in the course of her life has battled a rare cancer, a rare peripheral nervous system disease, and the important duties of wife and mother – and it hasn’t stopped her one bit.

It must be a mom thing – and most definitely an Allison thing.

Allison was diagnosed with Charcot-Marie-Tooth (CMT) disease in 1997 after being treated with chemotherapy for sarcoma. CMT refers to a group of inherited disorders that cause nerve damage – mostly affecting the arms and legs (peripheral nerves). It is also known as hereditary motor and sensory neuropathy, and may cause loss of sensation and muscle contractions, and difficulty walking.

Although CMT ran in her family and carried the gene, she was largely asymptomatic until she received that chemotherapy. As Allison puts it:

I ran, I skied, I walked in heels — I didn’t feel any different than everyone else. But after getting treatment for my cancer, everything changed. It was like 25 years of progression in one day.

Allison understandably was devastated. The treatment that saved her from cancer helped development the conditions that brought on her CMT. It’s an irony worthy of O. Henry! And Allison doesn’t mince words about how she felt: “I felt pissed; victimized. On some level I blamed myself for not being proactive.”

But Allison was determined not to wallow in her new world order. Instead, she got to work.

In 2001, not long after her diagnosis, she founded the Hereditary Neuropathy Foundation, determined to set an example for her two boys Christopher and Thomas, that you are more than your disease. The foundation has two primary missions, per Allison: To move the needle on therapy development, and to promote a patient-centric advocacy from top to bottom.

People just don’t know what CMT is. We don’t have hundreds of millions of dollars, so we have to work a lot harder to fill a lot of the gaps in the research. Our goal in three to five years is to fill in those gaps that are preventing research and discoveries.

And filling those gaps is exactly what she’s doing. The foundation is involved with everything from documentaries and children’s books to drug and gene therapy development.

But it hasn’t always been easy and Allison has constantly been mindful to balance this important advocacy work with what she considers her most important job: Being a mom. She recalls having to use their strollers as a walker or having to lay down the law that Mommy physically can’t run after them if they wandered off. Allison even recalls a time when she wasn’t sure she could continue to run her growing foundation or openly wondered if she had to significantly scale it back, because she was concerned she wasn’t putting in enough hours at home.

But her boys played a major role in convincing her to forge ahead with her foundation and reassuring her she was balancing all the hats she wears just fine – and they did it with three simple words:

“Mommy, keep going.”

And as they grow older, her sons helped play a role in the foundation and have developed a sense of compassion and entrepreneurialism in them. In fact, the foundation has been a family affair, with her husband Robert and sister Courtney getting involved and picking up the slack when Allison has her bad days.

allison moore with husband and two sons

My husband is my biggest fan. He plays a big part in coaching me on many of our initiatives especially when it comes to refining my presentations at conferences, participating in roundtables and overall marketing of our programs. And my sister Courtney Hollett is my hero! She wants to cure CMT as much as I do! She joined HNF five years ago and I don’t even know how we ever functioned without her. She does everything – most of all, putting up with me!

She sure knows how to balance and juggle various parts of her life! She’s raised two exceptional gentlemen, she’s a leading voice in CMT advocacy, she has folded in her family to help run her foundation – ain’t she something?! And she’s just getting started.

Our success in the last few years has been so rewarding. And you realize — hard work does pay off, as does perseverance. You just got to keep going, keep fighting, keep connecting, and keep working. And once you see the fruits of your hard work you realize — anything is possible.

Anything.

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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.

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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little girl in the hospital with stuffed animals

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