Letting Go of My Secret Diagnosis: Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease 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 tapped 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 Charcot-Marie-Tooth Disease 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 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.

I even told my family doctor about my diagnosis – something I hadn’t done before and something that was a big deal since that meant it would be documented in my medical records. (I had been warned about the documentation of a pre-existing condition causing problems with insurance since the day I was diagnosed. Luckily, that’s not an issue any longer.) He took the time to research the disease and to listen to me when I shared how the disease had progressed and was affecting me, and he even offered some really good suggestions. Together, we are both optimistic about the first potential treatment for CMT1A, the most common form of CMT. The drug is PXT-3003, which is being developed by Pharnext, an advanced clinical-stage biopharmaceutical company. I’m excited, and I hope to participate in the phase III clinical trial later this year.

March is the Month to Share YOUR Story!

Do you or your child have a rare disease? We want to hear your story. This month we celebrate all patients and their families who speak out on behalf of their condition to raise awareness, connect with others and inspire the community. Make sure to share your story with us by writing to us here.