on February 24th, 2015 11 Comments
We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s column comes from a patient advocate from Washington.
I’ve tried hundreds of different versions of my story to try to get people to understand. “I walk funny because I have Charcot-Marie-Tooth, also known as CMT. It’s named after the three doctors that discovered it: Charcot – Marie – Tooth. It’s a type of Muscular Dystrophy – but not really… It’s a genetic, progressive, neuromuscular disease that affects my legs and feet, arms and hands – and my diaphragm. It makes me tired. I’m sometimes in a lot of pain. Currently there is no treatment or cure. It’s just something I am living with.” Blah…blah…blah. I can see the person I’m talking with zoning out and I know I’m losing him. That’s hard because I’ve only just recently opened up about my CMT. I want my friends, family and the world to understand why I have struggles and limitations.
I’m 46 years old, and I was diagnosed at 13 years old. It’s been a secret I’ve kept hidden for 33 years.
The outpouring of support I received gave me the confidence and empowerment to get involved in raising awareness of the disease
CMT is by definition a rare disease, affecting fewer than 200,000 people in the U.S. Before the diagnosis, I tripped and fell a lot. When the pediatrician taped on my knee to test my reflexes, nothing happened (I always thought he just must be seeing something I didn’t see because he looked puzzled, but then moved on without commenting). I was constantly spraining my ankles and bandaging my knees from falling so much. Finally, the CMT diagnosis explained it. But it certainly didn’t do anything to help the situation other than confirm that I had a serious disease that would continue to burden my me. I became a master of making excuses for why I couldn’t join in activities like volleyball, jogging, aerobics, hiking, walk-a-thons, and much more. Social events even upset me, and I became more isolated.
It wasn’t until my disease progressed to the point that I needed braces to help me walk that I could no longer keep my secret. While researching online for bracing options, I discovered the advocacy organization Hereditary Neuropathy Foundation. In finding the foundation, I realized I wasn’t alone: Many others felt as I did. I agreed to conduct a letter-writing campaign, letting friends and family know about the diagnosis and why I wear leg braces; doing so helped people understand why I made changes in my life in order to adapt to my CMT.