Hope — and the CMTRF

This week was the official launch of the CMT Research Foundation (CMTRF).  Its single focus is to deliver treatment for this disease, and I have agreed to serve on its Board of Directors.

The decision to join was easy, because the founders of the CMTRF, Susan Ruediger and Pat Livney, share my vision: find effective treatment now.  They are passionate but also pragmatic. They know that it will take a lot of money, plus collaboration between the worlds of research, biotechnology and pharmaceuticals. And I think that they have the resources and drive to get it done.

My motivation for joining is professional and, of course, deeply personal.

As a neurologist, I know that CMT is really not that rare, and it’s becoming less and less mysterious. Breakthroughs are coming through for other neurological conditions – so why can’t it happen for CMT?

Take multiple sclerosis (MS), for example. It affects about the same number of people as CMT (2.3 million patients worldwide vs. 2.6 million for CMT). It was also discovered around the same time– and by the same person. (Dr. Charcot, in the 1860’s).

When I finished neurology residency ten years ago, we had three disease modifying medications for MS. Today, there are ten. With CMT, it’s zero and zero.

The progress made with MS treatment is wonderful, and it is inspiring. We need the same for CMT, and in this era of genomic medicine, there has never been a more promising time —  but we need the research and we need the studies.

On the personal side, it’s about hope.

I hoped for many things as Julianna’s mom, but I couldn’t hope for a cure. We were too many steps behind on the science, and I knew that ours wasn’t going to be that kind of story.

Today, my hope is for other families affected by CMT, now and in the future: may your story be very different from mine.

We must accept finite disappointment, but never lose infinite hope.

–Martin Luther King, Jr.

 

Moon-161-2

photo by Aubrie LeGault

8 thoughts on “Hope — and the CMTRF

  1. MS is more of an immune disease and I think it benefits from the extensive research into immunotherapy for cancers. 40 yrs ago when I was in medical school, there was no effective cure or treatment for ALS, spinal atrophy, the storage diseases, CMT and so many other hereditary neurological conditions. Fast forward to 2018 and I could probably still read a 1980 edition of Nelson’s Peds and the information would be for the most part, unchanged. I hope the CMTRF will help you, and families like yours, find the answers you are looking for. It will not help J. but effective treatment/disease modification would alleviate so much suffering in pts and families like your own. Good luck to you Michelle, and to the Foundation. Let J. be your guiding light and beacon of hope. This too will be part of her remarkable legacy. Julianna accomplished so much during her short time with us. Her physical self was weak, but this brave little warrior possessed the power to move people all over the world. Hugs to you and your family. She will be forever loved and never forgotten.

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  2. I truly hope that you see your vision realized, that there is a solid cure found. It must be absurdly difficult…yet easy at the same time to serve on that Board of Directors. I truly admire your fighting spirit…and am on your side in this fight. It will not be easy… yet to win this… to see a cure…we can NOT give up. Ever. On the days when it seems hopeless… people will NOT give up. That is how we will win one day and see a cure. Powerful blog entry as usual. This one hit me hard. You are the best writer ever! 🙂 Sending love to you and your family.

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  3. I’m SO excited for this. We proudly wear our Love Is a Superpower shirts all the time. For us, it was about joining a cause that was doing something, and giving for a beautiful baby who stole our hearts, we Love you Julianna!! We have my dad at home, with what they call end stage Parkinson’s with Lewy Bodies. My Faith gives me hope that one day the missing puzzle pieces will fall into place and a cure will be found. For us, continuing to research, love, and enjoy each day together is our new normal. It’s not what we envisioned for our family, but it’s where we are and do the best we can. We continue to pray for your family Michelle, and now for your foundation.

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  4. Maybe you being on this board was the reason this happened to such a pure soul. I’m sure that you do everything you can to bring attention to this disease and help to find something to help these patients. I believe in you Michelle and I know you will put your heart and soul into this.

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  5. Hello Michelle,

    I came across your blog while researching hospital or commercial grade nebulizers for my mom who has bronchiectasis which requires 3-4 thick cocktail treatments a day and with a regular at home device it takes her about 30-40 minutes each time. She is 75 years old and also takes care of her 97-year-old mother who lives with her who also requires similar treatments for the same diagnosis and COPD. I’m so sorry to hear about your pain on this journey of having your sweet girl in Heaven. I can’t imagine. It appears though that your heart through this journey is to help others. I am wondering if maybe you can offer some advice to me on the equipment you raved about on one of your posts. Not sure if Medicare would cover but her doctor is willing to put in a request; however, he is asking me for information on a machine. When you have time would you send me what you know about brand names, models, etc on equipment recommendations? God bless you and your family. Prayers for you all. Michellle

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