Before I gave this presentation, I knew a little about muscular dystrophy from knowing Jonah through my church. I knew he was in a power wheelchair and that was his main form of getting around, but I truly did not understand how much it affected his life. When I interviewed his dad, I learned that he has difficulty with transferring in and out of the bed, toileting, and self-feeding, which were his primary concerns that I addressed in the presentation. It never occurred to me that the muscles become so weak that he could not do anything for himself. The one thing that broke my heart was when Jonah's dad said the hardest part about having DMD is not being able to play with kids his age because he can't run around and keep up with children in school.
I learned that individuals with MD are typically diagnosed at age 5, which is when Jonah was diagnosed, and that his form of muscular dystrophy, Duchenne's muscular dystrophy, is the most common form. I learned that DMD is caused by a defective gene called dystrophin, which is responsible for making protein in the muscle, and that individuals with DMD have a 50% chance of passing it on to their children. DMD also causes pseudohypertrophy, which is false enlargement of the muscles in the calves, due to an increase in creatine kinase in the muscle. His calves are not large because of the muscle fibers, but because of scarring and fat buildup on the muscle.
Overall, my main takeaway from this project was that there needs to be more research done to find a cure for DMD. Most males diagnosed with DMD do not live past their twenties, which significantly decreases their quality and longevity of life. Just because people have DMD, does not mean that they don't have something to offer to the world. You can learn more about Jonah and his little brother, Emory, at www.fightdmd.com.
No comments:
Post a Comment