Wednesday, February 17, 2010

What is Muscular Dystrophy?

By Chris

While Dan and I both use wheelchairs, it is obvious to tell we have differing physical abilities. Both of us have had disabilities since birth, but they are unique. I have Muscular Dystrophy and Dan has Spina Bifida. I have Duchenne Muscular Dystrophy (DMD) which is the most severe form of the disease. I was diagnosed after analysis of a muscle biopsy at the age of four. At the time life expectancy was predicted to be 14 years. At the time of this entry I am nearly 28 years old. That's right, almost exactly 2 times the predicted lifespan.

Duchenne Muscular Dystrophy occurs nearly entirely among the male population. People diagnosed with this disease lack the gene which produces dystrophin, a protein that is integral to keeping calcium inside muscle cells. Without calcium muscles cannot be maintained or developed. Eventually all muscles within the body are affected. Currently I am on medications for cardiac, pulmonary, and neurological symptoms. I also have a pacemaker defibrillator and a tracheostomy tube which is attached to a ventilator at night. I use a large power wheelchair with a tilt and recline seating system. I also have a personal care assistant who helps me with my personal care needs as I am very limited in what I can do for myself physically.

Muscular Dystrophy progresses over time. Up until the summer after I turned 11 years old I was able to walk. I always walked slower than other kids and cramped up much sooner, a typical situation for boys with Muscular Dystrophy who often walk only on the front part of their feet. Over time I have become weaker and weaker, but that's just the way it is.

If anybody observes the physical abilities of Dan and myself, the differences become obvious. Unlike me, Dan can push himself around in his manual wheelchair. He often climbs out of his wheelchair and around his apartment like some sort of trained chimpanzee. That's not meant as an insult, it's just the best way to describe his movement. I use battery power and need much more assistance to accomplish certain tasks. This has been a nonscientific description of a genetic disease. Feel free to send your questions. Non-doctor Chris signing off.

7 comments:

The Stoker said...

Chris, do you know where the current research is focusing for muscular dystrophy? Is it gene therapy?

H. Sterling said...

Thanks for all the info on MD ....the "trained champanzee" comment cracked me up!

Anonymous said...

Chris, stay strong in spirit. Gonna be some good stuff coming out of stem cell, genetic research. I'm sure. I'm 52 and my LGMD2 is gettin me down but we gotta stick together.

Chris said...

DMD research is heavily linked to gene therapy. We'll have to see how that develops. Check the MDA web site for more info. Thanks for your input!

Chris said...

Glad to provide info on MD or disability. Dan is ape-like.

Gerry Ching said...

I'm liking the new blog bro! Really, really good stuff, I'm learning and understanding more and more...

meg said...

Thanks for sharing Chris! I think it is awesome that you and Dan are doing this together.