Joy’s CMT Story

I want to share something with you. I have a disease called CMT which affects my daily life – even in the kitchen.

CMT is a progressive, genetic neuromuscular disease that causes extreme muscle wasting in the hands, feet, arms and legs. Besides muscle atrophy, common symptoms include pain, deformity, fatigue and loss of mobility. In the most severe cases, CMT can cause difficulty breathing and death. Currently, there is no cure or treatment for CMT.

CMT is the most commonly inherited form of hereditary neuropathy, yet for many reasons no one seems to know about it.  CMT is just as common as Multiple Sclerosis, affecting about 1 in 2,500 people.

Over the past few years I have come to terms with my CMT and I have made a public commitment to educate people about it – because CMT seems to be the most common disease that people have never even heard of.

My mom received her diagnosis in her early 40′s, so I was tested soon after that and received my diagnosis when I was in my early teens. My symptoms actually began when I was even younger. As a child, I had a lot of leg aches. I tripped and fell a lot. Gym class was a real struggle because I just couldn’t keep up. The arches of my feet were impossibly high and my hammertoes rubbed on my shoes forming painful sores. My weak ankles kept me side-lined at skating parties, and I suffered my share of sprained ankles. When the doctor would test my reflexes with that little, rubber hammer I was always curious that nothing happened. No flinch. No kick. Nothing. But, he didn’t seem concerned, so I guess I thought everything was okay. Soon enough, I received my diagnosis and had an explanation for all my symptoms. I share this because in my effort to raise awareness, I want you to know what CMT looks like.

I have recently started having to limit my activities and have had trouble walking, so I have started to wear AFO’s (ankle foot orthodics). They provide me support and stability while I walk my dog, work out with my personal trainer, and stand for long periods while working in the kitchen. I’ve started losing strength in my hands and arms, too. After cutting, chopping, and stirring a big meal, I find I need some time off to let my hands rest and regain strength. A Passionate Plate has provided an amazing opportunity to do the cooking I enjoy while I still can. While there is no treatment or cure, regular moderate exercise can help me preserve the form and function of my muscles. I am finding great moral support first and foremost from my wonderful husband, Toby, but also from Allison Moore.

Allison also lives with CMT and has founded the Hereditary Neuropathy Foundation. The Hereditary Neuropathy Foundation is a non-profit organization that supports education, awareness and research into hereditary neuropathies, specifically Charcot-Marie-Tooth, also known as CMT. The Hereditary Neuropathy Foundation is currently funding cutting-edge research at a progressive pace to find clinical therapeutic treatment and ultimately, a cure for CMT.

 

I am very optimistic that the research being done at USC right now will result in a treatment that will work for me!

 

 

 

As is the case with other lesser-known diseases, financial support for CMT research is limited because pharmaceutical companies have little financial incentive to develop a treatment or cure. Research can continue only with support from gracious people like you. I will be deeply grateful for a donation of any size. But just as importantly, I’d love if you’d take the time to learn a little about CMT and tell a friend what you have learned.

Although this diagnosis and my accelerated symptoms have been difficult for me to acknowledge, accept and discuss, I feel blessed that I am finding this opportunity to make a difference, raise awareness and help find a cure. I have to believe that the reason I’ve never met anyone with CMT is because I never talk about CMT. So, now I’m going to start talking, and writing, and posting healthy recipes at The National CMT Resource Center (help4cmt.com).

I welcome any discussion or questions you might have, and thank you for taking the time to learn about CMT.

- Joy