(Editor’s note: For Rare Disease Day, WebMD is featuring four personal stories from people living with rare diseases.)
By Jennifer Clopton
WebMD Health News
Christopher Anselmo lives in West Hartford, CT, and is a writer. Now 30, he was diagnosed with a rare disease at the age of 18 and started having symptoms 9 years ago. He writes about the experience at https://sidewalksandstairwells.com/.
Tell us about your condition.
I have a neuromuscular disease called Miyoshi Myopathy, also known as LGMD2B and dysferlinopathy. It’s an extremely rare form of muscular dystrophy that affects one to four people per million.
This is a recessive inheritance of a mutation in the dysferlin gene, meaning both my parents were carriers.
It is not known to be life-threatening, but is life-altering. Within 10 years of the first symptoms, most patients end up in a wheelchair due to declining muscle strength. They can’t shake hands or feed themselves. Most eventually need caregivers for day-to-day life and can have breathing problems from diminished lung capacity.
What was your life like when you were first diagnosed?
What is unique about my condition is that it is an adult onset disease. I didn’t have symptoms until I was 21 years old. My legs tired out early one day on a run. Then I started falling and couldn’t walk up stairs.
The first few years were the hardest. My friends were all getting married, buying houses and advancing in their careers, and I was regressing physically. For a while I sulked and felt things weren’t fair in life. I didn’t handle it well, got into a lot of arguments and wasn’t a happy person to be around.
But life has a way of putting things in perspective. A close friend died of cancer and it inspired me to shape up. I went to business school, began asking for help and support from friends and family and started a website to be more open about my condition. That’s led to speaking engagements and has really helped me come to grips with my diagnosis.
What is life like now?
There are still lots of frustrations and things are always changing, so that tires me out mentally. I use crutches and can still walk, but it is getting precarious and day-to-day tasks like shaving, showering and drying my hair are becoming more difficult.
I’m living at home now, interviewing for jobs and on the cusp of buying a wheelchair, which I hope will bring a lot of freedom.
And I try to focus on the research. There are lots of treatments for muscular dystrophy in the pipeline. Hopefully one day my form of the disease will have its day and there will be a treatment for me.
What would you tell someone who is newly diagnosed with a rare disease?
For those who have an adult onset rare disease, there is no question you will be upset, afraid and angry. It may wreak havoc on your life at first, so take the time to grieve the life you won’t be able to have.
Then don’t dwell on the abilities you’ve lost. Focus on what you can do. Immerse yourself in the world of your disease and get as educated about it as you can. That will empower you and from there you can begin to move forward with your life.
Read other stories about people with rare diseases:
- Alani Daniels, congenital generalized lipodystrophy
- Gin Jones, X-Linked Hypophosphatemia or XLH
- Daniel Strong, Prader-Willi Syndrome
These stories were developed through a collaboration of WebMD and NORD. For more information on rare diseases, please visit: https://rarediseases.org/
For Instagram profiles of doctors who are tackling rare diseases from WebMD’s sister site, Medscape, click here.