The story of Jason
Jason Parker Winslow was born on the 13th September 2006 at the Seychelles Victoria hospital. The most beautiful little human.
He didn’t reach all his milestones as a baby and toddler and even though he presented with all the common traits of Duchenne which are large calf muscles, didn’t crawl, fell down often couldn’t climb stairs, only started walking at age 2, delayed speech the Doctors and Specialists at the Early Childhood Intervention Center couldn’t make the diagnosis. We were told he is developing late and will catch up but as a Mommy you know something isn’t quite right.
We lived in Seychelles for 15 years and sadly had to move back to SA when Jason was diagnosed with Duchenne in July 2013.
Jason visited a GP for the flu when he was 6 years old. The doctor recognized the huge calves, waddle when he walked and the fact that he couldn’t squat. He wrote Duchenne on a post it and told me to go home and read about it.
My husband and I were devastated when we read about the disease. Rare, fatal, incurable, boys passing away in their teens. Our world crumbled there and then. With the huge calves that looked athletic we never thought to Google muscle wasting.
That’s where Jason’s journey with Duchenne Facebook was born. After digesting the diagnosis and doing lots of research to educate myself I decided to share symptoms etc on his page with today still the hope it will help one family make an early diagnosis.
https://www.facebook.com/Jasons-journey-with-Duchenne-671989592904901/
Jason is our only child. He is quite a character and has a contagious laugh. Although on the Autism spectrum he has beautiful amazing qualities like remembering routes to certain places without using a GPS. His memory is incredible and he can tell you what we ate and wore on a specific date.
He loves Creole music especially when my Dad plays it on the guitar. He never goes anywhere without his music playing. All types.
Duchenne is a genetic condition which can be passed on from the mother but in our case my I tested negative, it was a spontaneous mutation that happened and so this means that Duchenne can happen to any family even without a history of it.
There is a protein you and I have called Dystrophin that keeps the muscle membranes strong to repair themselves. With Duchenne there is a deletion or duplication on this protein link which means there is no flow like a broken puzzle.
It’s taken years to find a Cure for this complicated disease. There are scientists working on gene therapy which aims to deliver the dystrophin via a virus. But it’s a stop start venture.
Jason became non ambulatory at age 11. Duchenne affects all the skeletal muscles eventually the heart and breathing muscles because they are muscles too. He uses a Bi Pap machine home to help him with his shallow breathing at night.
Jason’s message, I may be Rare, but I’m not my diagnosis , I am Jason, and I will never give up!