Seeking Hope for a Rare Disease
- Topsail Times
- Jan 2
- 3 min read
By Chelsea Layton
When I heard of the untimely death of the young actress Isabelle Tate at age 23 due to complications from Charcot-Marie-Tooth disease (CMT), my heart broke for her family. Though most people have never heard of CMT, I know this rare, degenerative neurological disorder all too well. I have CMT.
Growing up, I always knew I was different from my peers, although I tried my best to mask my disease. As I entered into adulthood and my symptoms progressed, I was no longer able to hide its effects. 13 surgeries, thousands of medical bills, a partial amputation of my foot, years of physical therapy, and my young adulthood taken away. And my future? Unpredictable.
Living with a rare disease means trying to find hope in the face of frustration and sometimes despair. That’s why I am determined to raise the funds needed to fuel the search for a cure. So that no other families have to grieve the future they thought they would have. Or have to wonder as they joyfully welcome a new child or grandchild whether this disease will impact another generation.
CMT has over 140 genetic mutations, and not all are as severe or progress as rapidly as Tate’s variant. But no forms have a cure yet. That makes it all the more nerve-wracking to not know when walking might turn into stumbling, breathing might become harder, or even schoolwork or a job could feel exhausting.
Country music star Alan Jackson’s career was cut short when CMT attacked his balance and mobility. He recently announced he’ll play one final concert this summer and donate a portion of ticket sales to the CMT Research Foundation (CMTRF) to fund the search for a cure.
I appreciate Jackson’s generosity because CMT, like many other rare diseases, constantly struggles to get funding. Promising leads found in labs usually hit a dead end for lack of resources to carry new drugs through to clinical trials.
However, there is hope. In just eight years, CMTRF has funded 32 early-stage projects that so far have produced six potential therapy candidates. One of these could become the first-ever cure for CMT. And what scientists learn about how these therapies work just might unlock answers to treating other more common nervous system disorders, like Parkinson’s and ALS.
I initially became involved with the CMT community when I was looking for answers to understand my own condition. Then, I started volunteering to help others understand theirs. Now, I give my time as the Community Engagement Manager at the CMT Research Foundation to help support and connect the 3 million people worldwide living with this disease that has no treatments. I am proud to serve my community.
CMT was first described by doctors in 1886. We now know so much more about the genetic mutations that give rise to its various forms. We also know so much more about gene therapy and how to get drugs directly into nerve cells.
A cure for CMT will come too late for Isabelle Tate, but with ongoing donations to CMTRF and investments by the biotech industry, I truly believe a cure for CMT is in sight.
About the Author:
Chelsea Layton has a background in Psychology and Child Development and has combined her skills and philanthropic passion to change the field of CMT. She enjoys hiking, days at the beach, skydiving, and enjoying all of life’s moments, as she knows they could be limited any day.
