THE DYSFERLINOPATHY JOURNEY
THE DYSFERLINOPATHY JOURNEY
My name is Steve and my “journey” with this condition began in February of 1997. At that time I was 17 years old, I was a junior in high school, and very active in sports and weightlifting. Nothing too dramatic happened other than the fact that I wasn’t getting any stronger and began getting weaker very slowly, in spite of my efforts in the weight room. Also, I was doing a fair amount of running that spring and I began experiencing long term muscle soreness. I finally went to the doctor in the summer and I started getting blood work done on a regular basis. The results revealed very high levels of the CK enzyme in my blood. That was the first tangible evidence that there was something wrong. At that point, I was referred to a specialist at a local hospital here in Reading, PA. This particular specialist performed a muscle biopsy which was used for a number of different tests from that point on.
I was then referred to a specialist in Hershey, PA, then to another one at Johns Hopkins in Baltimore, then to another one at Penn University in Philadelphia, then to another one in Rochester, NY, then to Dr. Bonnemann at Children’s Hospital of Philadelphia (CHOP). The doctor from Rochester (Strong Medical Center), Dr. Thornton, was really the first person to figure out what was going on; however, he did not have the means to confirm a diagnosis, which is why he referred me to CHOP. Finally, in 2006 it was genetically confirmed that I had this disease. I can’t honestly say that it was that much of a relief to finally know what exactly was wrong, knowing that it couldn’t be fixed anyway. However, I’m certainly glad that I know exactly what I’m dealing with now, especially if treatment ever becomes available.
So, I’ve been dealing with this condition for over 14 years now. The things I do for fun, my daily routine, my future plans, my ambitions, my relationships, etc. have all been affected by my experience with this condition. I wouldn’t consider it a tragedy, however, as I’m probably happier than most people I know. Don’t get me wrong, I’d surrender any material possession I have to get better and be able to enjoy the physical activities which were once such a huge part of my life, but I never got too bent out of shape over the whole thing. I think the trick is to continually develop new interests rather than get caught up emotionally in the things that I may not be able to do anymore. It’s a bit of a struggle, but most transitions are I suppose. I’m fortunate in that I have great friends, a great family, and a very strong faith in my Maker, so I rarely feel alone. That said, without these positive elements in my life, I think it’s safe to say that things would be a lot more difficult for me. But then again, without friends, family, and faith, perfect physical health wouldn’t mean much to me anyway.
In spite of my condition, I’m very thankful for the things that I do have and the ability I still have left. I still walk without a cane but stairs are very difficult for me. I’ll probably end up buying a cane for myself to celebrate my 32nd birthday in October. I may even have a party and give it a name… Obviously, I wish I’d never gotten to the point where I needed a cane or even had to think about a wheelchair, and I don’t enjoy dealing with my physical disability, but I’m doing my best to learn from the challenge. Hopefully, when it’s all said and done, I’ll be a better person because of it. Perhaps other people around me will be able to draw strength from my resolve and resilience, assuming I’m a strong enough person to maintain them. I imagine time will tell, one day at a time.