Charcot Marie Tooth Disease, Stork Legs & More

“You have Charcot Marie Tooth disease? I’ve never heard of that.” said the head of the neurological department.

Yes, it’s true. I met with the head of the neurological department and he had never heard of the disease.

I was disappointed. To say the least.

confused doctor

Okay, that is not actually the photo of the doctor that I described, but it has basically been the facial expression of every medical professional I have come across growing up. Rarely do they know about CMT, and I don’t blame them. It’s not had any major awareness campaigns like ALS did with the ice bucket challenge, which helped accelerate the search for treatments for it.

However, if there was ever anyone I expected to actually KNOW about it, it would be someone that specialized in the department of neurology.

My mom, jokingly, used to say I would trip over a penny that was buried in the ground.

All caused by a progressive, neurological disorder that several million people live with.

I guess it’s no joke that the community has a joke about the disease.

CMT, the most common rare disease you’ve never heard of. I want to change that.

Everyone’s heard of MS, ALS, Alzheimer’s & Parkinson’s.

CMT occurs in 1 in 2,500 people, and according to the FDA is the most common rare disease there is, among 7,000 others that share the same classification. CMT probably affects someone in your community. Perhaps someone at your office. Someone at your child’s sports club. Someone you interact with on a daily basis. They may not yet be diagnosed or showing obvious symptoms, or they may. It may be their fine motor skills that are affected. They may not like tying their shoes because it is difficult for them, but people affected by CMT are out there, living with a disease that we know enough about that an effective treatment should have been made available already.

My story is not unique. There are many people out there tripping over pennies, even if they are buried. And many people experiencing vastly more serious consequences, and pain, as the disease progresses.

Given its debilitating progression and it’s lack of awareness, it has received an incredibly small amount of research funding to, ultimately, hopefully, lead to a cure.

With my obvious self-interest in furthering research, funding, and simply the future for everyone affected by this crabby disease, I have always had a profound interest in raising awareness.

So. I ask you, if you know anyone who may be in a position to move the needle with regard to medical research, share this message with them.

I am not looking for empathy, but simply to raise awareness.

And should you find it within yourself to have an interest in donating towards the association that represent everyone with CMT, I would be eternally thankful for your support towards the organization.

I have no monetary gain from your potential donation, but you will help brighten the future for the 3 million people worldwide living with the disease.

Check out the Charcot Marie Tooth Association, to read more about the great work that they do, including the scientific research they fund that will one day lead to a cure – hopefully.

Whether you choose to consider donating or not, I will equally grateful should you choose to share this page and help raise awareness, or otherwise take other actions that may help improve the outlook on the disease and those affected by raising awareness in other ways.

Here is some more information on what it is, how it affects various people, why it affects some more than others, and what people living with it can expect will happen.

If you have a child that has stork legs or experiences numbness in their feet, it may just be that they have CMT. Early detection can additionally lead to significant improvements in quality of life as you may take various courses of action to lessen its impact on your daily life.

For instance, my parents, whom have provided me with the best upbringing anyone could hope for, helped me in a variety of ways growing up. For one, as I write extremely slowly by hand compared to my peers, they were able to work with the school and allow me to do a bunch of work on a computer rather than by hand. At current time, this may seem outdated, but it wasn’t the norm when I was still in middle school and high school.

Additionally, with my early detection, I’ve been able to work with gym teachers and people in charge of other situations that helped make my upbringing a bit more pleasant.

I’m not saying avoiding sports is the solution, but being able to focus on aspects, and influence situations I would be truly uncomfortable with, like writing by hand, I’ve much so lessened the impact the disease could have had on my life, as well as its mental toll.

If you have a child experiencing some of the same things that I experienced growing up, I urge you to work with a doctor, as well as your child’s school to give them the upbringing I got.

While I cannot claim that it’s not a matter I think about every single day, I have done my absolute best to not let it get in the way of the things I have wanted to do. I sell house plans for a living, and have a thriving food blog where I have created a range of recipes, including THIS CHICKEN RECIPE, THAT BEEF RECIPE and THIS TURKEY recipe. I have done all the things I could possibly want in my life, but I have always wished there was a cure, and that I wasn’t constantly thinking about the progress of the disease.

So, please. Help me raise awareness for it. I want to start a movement, a movement that ideally manages to raise $200 for drug and treatment discovery for the disease, just like the ice bucket challenge did. And it all starts with awareness. Thank you!

What is CMT disease

Charcot Marie Tooth is an inherited disease that causes nerve damage, while affecting mostly the peripheral nerves, such as those in hands and feet. However, CMT is the umbrella classification. Some types will have significantly worse progression than other types, with some leading to respiratory issues as the disease progresses. Common among them is that they lead to increased difficulty walking, the potential for severe paint in the feet. Foot numbness is typical among people with the disease, and I personally wake up once a month (roughly) with a burning sensation in my foot, or perhaps like someone is pushing a massive needle into it.

Foot drop, frequent tripping, hammertoes, stork legs are some of the things people start experiencing as it progresses. For the most severe types, difficulty breathing becomes an issue. While most people living with CMT have a normal life expectancy, the degree of disability continues to increase as people get older.

While it will likely not be a disease that threatens my basic life functions, I can tell that it has had severe impact on my own life quality. With the progression of the disease, I have found it increasingly hard to drive a car for extended periods of time, and I can no longer walk around barefoot for periods of time without feeling significant pain.

I am not asking that you dump your entire life savings into the CMT Association, but I would love your help in changing the outlook for the disease. Through awareness, we can increase the focus on the disease, which will ultimately lead to a treatment, and  hopefully even a cure.

We will be happy to hear your thoughts

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