Breaking Down the Barriers of Charcot-Marie-Tooth Disease

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.

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.”

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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