Behind the Scenes Look at Charcot-Marie-Tooth Disorder

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Charcot-Marie-Tooth disorder, also referred to as CMT, is a hereditary motor and sensory neuropathy. It’s been passed down through my family for at least 5 generations. I’d like to use this platform to go into greater detail and provide both the public and curious medical professionals a behind the scenes look at perhaps the most common of rare diseases.

Introducing Me

Jan. 28, 2021 a cold and windy day in south-central PA!

Let’s start with some answers for people who may be learning about CMT for the first time.

Charcot-Marie-Tooth Description

Charcot-Marie-Tooth, or CMT, is a group of hereditary disorders that damage the nerves in the arms and legs. Charcot-Marie-Tooth is a degenerative nerve disease that usually appears in adolescence or early adulthood. From what I understand, it slowly worsens over time but in some cases it can reach to a point when the progression stops. It is important to note that CMT is not life-threatening.

I’ve heard a slang term for CMT is “old man’s disease” because even at a young age your movements are like that of an old man (or woman). CMT affects both men and women.

Symptoms of CMT

The symptoms of CMT include muscle weakness, decreased muscle size, decreased sensations, hammertoes, and high arches. Decreased sensations, particularly in the hands and feet are something be careful of to avoid blisters and burns! Poor tolerance for cool or cold temperatures is also typical and many people have chronically cold hands and feet. Additional symptoms may include fatigue, sleep apnea, scoliosis, and hearing loss.

I used to think I had vertigo but found out another symptom of CMT is the inability to sense where one’s body is in space. This seems to account for my strong lack of balance when standing at the top of a staircase.


An Orphaned Disease

There are fewer than 200,000 US cases per year. It is considered an “orphan” disease because it has not garnered much attention or research. Could it be because there’s no money in treatments for the Big-Pharma companies? Who knows, I just thought I’d throw that in there! CMT has been called the most common of rare diseases.

The diagnosis of rare diseases is often difficult causing delays which can often leave patients and their families feeling isolated and vulnerable. This is no joke! My wife was not amused when the diagnosis from my GP was ALS! I went to a neurologist for a second opinion.

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive, degenerative disease that destroys the nerve cells that control voluntary muscle movement. It is often fatal.

How to Diagnose CMT

The diagnosis of CMT neuropathy can be challenging. You must be evaluated by a medical doctor to confirm if you have CMT. As noted above, your first visit should probably be with a neurologist. The diagnosis is based on physical symptoms, family history and clinical tests. Clinical tests include nerve conduction velocity (NCV) which measures the speed at which impulses travel along the nerves

  • CMT requires a medical diagnosis
  • Lab nerve conduction tests are always required
  • A Genealogist can help determine the family hereditary history

Look, if you have high arches and hammer toes, I can tell you from my own experience that is an early sign of the disease.

Living With Charcot-Marie-Tooth Disease

My family has a lot of experience living with CMT. I was the first one diagnosed with it which is when my wife & I set out to learn more. We learned that I inherited it from my mother. So we therefore learned that the culprit DNA it is attached to one of my female genes. So, my son would not inherit it (the dominate male gene coming my wife) while my daughters, having a female gene from my wife and a 50/50 chance for one of mine, gives them a chance to have it passed down to them. It can get confusing!

Generational Disorder

Both of my daughters wound up inheriting the CMT, along with one of my grand daughters and they each will have their own story to tell. My youngest daughter however, was also born with Lissencephaly, another extremely rare disease. Her story is memorialized on her own website, lisskid.com where can you learn more about Lissencephaly and read about her bittersweet story.

People, living with only CMT will have a normal life filled with the usual ups and downs. For me the downs were more frustrating, being cloaked in the “hidden” physical disability I didn’t know about. Growing up, my friends and family would recognize my “issues” but they didn’t know what the cause was. This frankly lead to a lot of misunderstandings.

Living with CMT
What if he had CMT?

It’s important to get diagnosed early in life so everyone’s on the same page!

In spite of this disease I had a successful 25 year career in corporate accounting followed by an exciting 20+ years of discovery in Information Technology. During this time my beautiful wife and I also raised a family of three, a son and two daughters. We’ve been married 39 years!

Doug & Michelle showing off Corona-hair! LOL

Do I Look Intoxicated?

I cannot tell you how many times someone asked my wife if I was intoxicated! Admittedly, living in blissful denial, I simply went about my business, unaware I was being judged. Some people were concerned but others just thought I was drunk (we would usually get a good laugh about it).

Signs of Wear & Tear

At 63 years old I am showing some signs of wear & tear and my leg and hand muscles are weaker than ever. Maybe it’s just a sign of old age but I do feel stressed out more than I used to, although who isn’t with COVID-19 and so many troubling news stories on the airwaves nowadays?

CMT Treatments

There is no cure for CMT, but physical and occupational therapies, braces and other orthopedic devices, and in rare cases, orthopedic surgery can help people cope with the disabling symptoms of the disease. In addition, pain-relief drugs can be prescribed for individuals suffering from severe nerve pain.

Coping Mechanisms

In the future I will share how I managed to stay a happy soul throughout all these years but what helps me the most these days is a new found joy: CBD! The CBD products from Joy Organics, especially the lemon tincture oil, are superb. This type of therapy helps me psychologically, relieves pain and discomfort, and improves my overall quality of life.

I fell on the ice a few weeks ago and broke my wrist! It’s healing well with most of the swelling finally gone but it still aches constantly. I am proof this CBD product works to ease pain and now represent Joy Organics as an affiliate! My desire is to help inform others of the benefits of CBD and to help improve their quality of life too.

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Check out this article! Why Are Seniors Turning to CBD?

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