I was diagnosed with facioscapulohumeral muscular dystrophy (FSHD) when I was 15 years old and trying to do weight training for the freshman football team. After the shock of learning that I had “muscular dystrophy” subsided, I found that my life really hadn't changed a great deal. I still had homework to do, a driver’s license to look forward to, my friends and my family.
Blessed with a great family who taught me the values of my faith and provided remarkably fine educational opportunities, I was able to become a physician.
Now, I work as a neurologist at the University of Cincinnati and am the director of one of our MDA clinics. I love my work. Thanks to my power scooter and ramped van, I can get just about anywhere.
After dealing with FSHD for more than 40 years, I’ve learned that I can do quite a lot — I just have to do it differently than others.
This is not to say, however, that FSHD doesn’t cause frustrations and sacrifices. Losing the ability to walk even short distances is a pain. (Not all accessible restrooms are created equal!) So, I’ve learned to check things out in advance. I also try to focus on things that I can do and put things that I can't do out of my mind. It works most of the time.
FSHD is a highly variable disease. The pattern of weakness, rate of progression and level of physical pain can be quite different from one person to another. But the limitations created by FSHD don't always turn out for the worst.
In high school, giving up sports seemed like a big loss. Now, I’m not so sure. Perhaps it was a blessing in disguise, guiding me to spend more time on my studies.
We live in a time when people with physical disabilities have more access than ever before to education, equal employment opportunities and public places. I recommend taking full advantage of your local MDA office ; they’re very helpful in answering questions and helping you get established at an MDA clinic, where you’ll find physicians who are knowledgeable about muscle diseases.
MDA-supported research is making real and exciting progress deciphering the underlying causes of FSHD, with an eye toward developing therapies to treat the disease.
The good news is that people with FSHD have long lives to live. So think about things that you like to do and then choose work, hobbies and volunteer activities that maximize your strengths and minimize your weaknesses.
And always remember: You're not alone. You have your friends, family, a great country and a wonderful ally in the Muscular Dystrophy Association.
John Quinlan, M.D.
Lakeside Park, Kentucky