Patient Stories: John

The first sign of Miyoshi Myopathy was in my junior year in high school. I was a fit kid, but not a fast runner. During football practice I was as fast as a heavy lineman. The coaches and I just thought I was a slow runner. That same year I tried out for wrestling, but I couldn’t run or jog without stopping and taking breaks. After high school it got worse; I couldn’t run at all and tripped often. In 1988, with a muscle biopsy, I was diagnosed with a type of limb girdle muscular dystrophy. At that time doctors didn’t know what type. I was now one of “Jerry’s” kids/adult.

My symptoms went from walking with a cane, then using forearm canes, to a manual wheelchair and now an electric wheelchair. At first diagnosis, I thought the disease would only affect my legs; however, through the years I have lost function in my lower and upper extremities and now have pain, fatigue and discomfort. I am now 43 years of age with two kids. Over the years I have found a way to “adapt, overcome and improvise" (Clint Eastwood).

In 2002, at an MDA clinic in Stanford California, Dr. Katz diagnosed me with Miyoshi Myopathy. He was certain with his diagnosis. But just by asking me a few questions, doing limited physical tests, and observing me with no "data," the diagnosis didn’t feel official. My motto is SHOW ME THE DATA THAT MATTA’S (matters).

With the muscle biopsy obtained as a young adult, the Jain Foundation was able to send it to the appropriate scientists to confirm to me that I do have Miyoshi Myopathy. Thanks to Esther Hwang and her team for giving closure to the type of Limb Girdle-Muscular Dystrophy disease I have. Now when people ask me what “happened to me” or “why are you in a wheelchair” I can say with conviction “I have a rare muscle disease called Miyoshi Myopathy”.

 

Click here to read more patient stories.

Click here to register with the Jain Foundation.