The CMT STAR initiative – raising funds for a cure for CMT1A

As many of you know, this year I have re-focused my fundraising and am dedicating my training, racing and efforts to the Charcot Marie Tooth Association’s STAR initiative.  STAR is funding targetted cell and gene specific research into drugs which may be a cure – or treatment – for Charcot Marie Tooth disease type 1A.  I was diagnosed with CMT1A in 2004, and have a confirmed genetic diagnosis which I received in 2007.  CMT1A affects approximately 1 in 5000 people.  The STAR research program is now moving into its second phase of cell line screening – already 810 potential compounds have been identified as possible ways to manage the overexpression of myelin protein, the cause of CMT1A.  But to move ahead with further screening, lab testing, and drug trials, the CMTA STAR intiative needs funding.

Regular readers of my blog know that my approach is to be as active, as strong, as healthy, and as fit as possible so that one day, should I deteriorate from my CMT, I will do so from a position of strength.  Not everyone who has CMT is able to be as active as I am – it impacts each of us differently.

To help build awareness of CMT and in my support of the CMTA STAR initiative, I thought I would run a series of spotlights on people who have CMT1A – so that if you decide to support my fundraising this year you will know more about the people who will benefit from your kind donations. 

Melinda’s story…

What type of CMT do you have? CMT 1A

When did you receive your CMT diagnosis? At age 47 by genetic blood test through Athena diagnostics

If someone saw you on the street, would they know you had anything wrong with you?

A Professor recently remarked that if I hadn’t told him he would not have suspected that there was anything wrong with me, however for years people have looked at my feet as I walk (I always wondered if I had a poor choice of shoes) and I do recall people asking me how I hurt my leg/ankle in college, becaue of the way I walked. Now, I think if anyone looked closely enough they would see my very skiny forearms and the way my foot drops even when I am wearing my leg brace.

How would do explain CMT to others?

CMT is a rare degenerative neuromuscular disease, that progressively weakens arms, legs, hands and feet. People with CMT frequently have high arches, and scoliosis of the spine. CMT can also affect your voice,and rarely breathing if it affects the nerves that go to the diaphragm.

If you could describe your approach to living with CMT in three words or three key mantras, what would they be?

Keep trying. Don’t give up. It could be worse.

What does the CMT STAR program mean to you?

STAR means hope. Hope that soon there could be a medicine to stop the progression of the nerve damage. Hope that one day soon there will be a cure, a possible reversal of the damage already done. STAR means the hope for a world without CMT

Wish upon a STAR: Mickey and Melinda

Melinda’s thoughts on being active with CMT…

When I was diagnosed with CMT I was told not only is there no cure but there is no treatment. “It doesn’t shorten your lifespan but you will continue to get weaker.” At that point I could barely crawl up the stairs because my legs were so weak, and I kept loosing my balance and falling. A different neurologist suggested I try physical therapy and sent me to a physiatrist. This doctor wrote a prescription for physical therapy, saying I needed to exercise an hour a day every day. I thought he must be kidding. I can barely walk a few steps without tripping over my feet. But the physical therapists were great, working with me to improve my balance and gradually increasing weights around my ankles and arms. I improved enough to join their fitness program to work out on my own using the treadmill, elyptical and leg presses. After 3 years of almost daily exercising (they were closed on Sundays, so I usually opted to give myself a day off) I can walk up the stairs and get around much easier now. However, I wonder if I made my arms worse by using too much weight. Starting with 1/2 lb weights wrapped around my upper arm, and using the arm machines without any added weight, I worked my way up to 5 lb free weights. But my forearms have noticeably lost muscle and atrophied. I worry that I made myself worse, but it may just be the normal progression of my CMT. After becoming discouraged, I backed off of exercising for a while. However, I recently joined the YMCA and have started a low weight routine. I also walk outside on nice days or around the inside track when it’s cold or raining. On the CMTA (Charcot-Marie-Tooth Association)‘s web site I read that swimming and biking are the best forms of exercise for people with CMT. Our pool will be open in a few weeks and I’m shopping for a new, more comfortable bike. Most importantly, I read this blog when I need inspiration to keep going.

Donna’s Footnote

If you would like to support the efforts of the CMTA in finding a cure for CMT1A, please feel free to donate by clicking this link .  Thank you very much for your support.

3 responses to “The CMT STAR initiative – raising funds for a cure for CMT1A”

  1. Hi Donna,

    You are amazing. I cannot thank you enough for your efforts at raising awareness of CMT and fundraising for STAR.

    Thanks for including my story. I’ll keep reading your blog and check in to see how your doing.


  2. Your story is inspiring.  I am in the same situation you were in.  What type of exercises did they give you to improve you strength.  I am active but I don’t know when I am over doing it.

  3. I have spent a lot of time working on balance and stability exercises.  Lots of lunges and squats, without weight, just focused on foot placement and feeling strong in my legs.  I do forward lunges, backwards lunges, side lunges.

    Under supervision of a trained coach I have started to run.  It has been an extremely long and often frustrating process, not without aches and niggles.  I have developed tendonitis along the way, which has eased the stronger I am getting.

    The pool is my favourite, as is cycling, as they are both non weight bearing and by definition easier for me.

    Anytime you want feel free to email me at .(JavaScript must be enabled to view this email address) and I’ll be happy to share with you what else I do.

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