Starting a Blog...What is Duchenne Muscular Dystrophy?

Hi...My name is Heather
I never thought I would start a blog (I am just not the type). I have always enjoyed my privacy. I have had quite a normal life, mostly followed the rules (except for a few wild times in school), finished college (Go Longhorns!), have great friends and family, married the man of my dreams ( one said my dream was perfect...just kidding), and moved to the Houston suburbs. Before I got pregnant, I had genetic testing. I was cleared of being a carrier of Cystic Fibrosis, Tay Sach's Disease etc. Doctors said I was perfectly healthy. I went on to have my first son in 2003. He is a happy, healthy, and well-adjusted 6-year old now. We had our second son in 2006. Doctors all reported he was healthy at birth and at every 6-month check-up. When he was about 2 years old, we began to be concerned with his speech and started speech therapy. Doctor's still didn't seem concerned. Then, right before his 3rd birthday, a lady evaluating him for speech noticed his well-defined calf-muscles (we had always just thought he had nice calf muscles). I immediately went on Google and found out about Duchenne Muscular Dystrophy, a disease I didn't even know existed, but one that was about to break my heart into a million tiny pieces. After bringing my son back to the doctors and demanding testing, he was diagnosed with Duchenne.

Duchenne Muscular Dystrophy is a the most common fatal genetic disease diagnosed in childhood. It is an x-linked disorder affecting boys, which causes a deterioration of all the skeletal muscles in the body and the heart muscle. Boys affected with the disease are usually in a wheelchair by about age 10 and die in their late teens or early 20's. How could this be happening? My husband and I said over and over. We did all the right things. I have no family history of muscular dystrophy, but found out later, I may be a carrier and not even know it. Even if I am not a carrier, I could still have a child with muscular dystrophy. One-third of the cases are from mothers who are not carriers.

Even though are hearts are still breaking, my husband and I are now on a mission to increase awareness and research for this disease. Not only do we want to stop this from happening to other families...We are in a race against time to save our son's life. There are currently researchers and scientists working diligently to come up with good treatments and a cure for this disease, but there is limited funding and awareness. We need the help of save these boys so they can continue to enjoy things that we all take for granted everyday...walking, standing, breathing.

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Comment by Sindy Boldizar on July 30, 2009 at 2:27pm
My heart goes out to you. I have almost the same story. Had an amnio with both of my children and my boy was DX at 2 1/2. He is now 4. I got tested and I am not a carrier. We all have to work together to fight this and find a cure......Sindy in NJ

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