Charcot Marie Tooth Disease & Stork Legs

The $985 million dollar challenge. That’s the average cost of developing a new drug.

“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 the photo of the doctor I described. It has 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 as ALS did with the ice bucket challenge. It helped accelerate the search for treatments.

If there were ever anyone I expected to KNOW about it, it would be someone who specialized in the neurology department.

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

A progressive neurological disorder causes all that several million people live with.

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

CMT is 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. 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 daily. They may not yet be diagnosed or show 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. People affected by CMT live with a disease we know enough about that an effective treatment should have been made already.

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

Considering its debilitating progression and lack of awareness, it has received an incredibly small amount of research funding. Maybe the leading reason there’s no treatment or cure.

With my obvious self-interest in furthering research and everyone affected, 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 about medical research, share this message with them.

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

Maybe you find yourself interested in donating to the association that represents everyone with CMT. I would be eternally thankful for your support of the organization.

I have no monetary gain from your potential donation. Still, 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. It includes the scientific research they fund that will one day lead to a cure – hopefully.

Maybe you choose to consider donating or not. I will be equally grateful if you share this page and help raise awareness or otherwise take other actions. Any action that may help improve the outlook on the disease and those affected by raising awareness in other ways is great.

Here is some more information on what it is and how it affects various people. I’ll touch on why it affects some more than others, and what people living with it expect.

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

My parents helped me in various ways growing up. They have provided me with the best upbringing anyone could hope for. 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 the current time, this may seem outdated. It wasn’t the norm when I was still in middle school and high school.

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

I’m not saying avoiding sports is the solution. Being able to focus on aspects and influence situations I would be truly uncomfortable with has been great, 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. Work with your child’s school to give them the upbringing I got.

I cannot claim that it’s not a matter I think about every single day. I have done my absolute best not to let it get in the way of the things I have wanted to do. I sell house plans for a living and have a successful food blog. I have created a range of recipes, including THIS CHICKEN RECIPE and THIS TURKEY recipe. I have done all the things I could want in my life. 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 that manages to raise $200 million for drug and treatment discovery for the disease. I want it 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 mostly affecting peripheral nerves. It’s especially those in the hands and feet. However, CMT is the umbrella classification. Some types will have significantly worse progression than other types. Some lead to respiratory issues as the disease progresses. Common among them is that they increase difficulty walking, the potential for severe pain in the feet. Foot numbness is typical among people with the disease. I wake up once a month 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 increases 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 a severe impact on my life quality. With the progression of the disease, I have found it increasingly hard to drive a car for extended periods. I can no longer walk around barefoot for periods without feeling significant pain.

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

We will be happy to hear your thoughts

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