Jason's journey with duchenne

Duchenne Muscular Dystrophy also known as DMD is caused by a defective gene for dystrophin (a protein in the muscles) However it often occurs in people without a known family history of the condition. The condition most often affects boys due to the way the disease is inherited.

Duchenne is rare and affects 1 in 5000 boys worldwide. It not only affects the skeletal muscles but the heart (a muscle) and breathing muscles took such as the diaphragm. There is currently no cure. Lifespan of boys affected by DMD is late teens. 

Jason, 14 years old, was only diagnosed at age 6 despite all the visible traits as a toddler. Common symptoms are large calves (muscle breakdown, scar tissue), frequent falls, not able to climb stairs or walk and delayed speech. 

Following numerous tests, specialists kept telling us that we should not be concerned and that he is developing late and that he will catch up. 

Eventually diagnosis was made by a doctor during a consultation to treat a cold. The GP was concerned about Jason’s, large calves, waddle, and the fact that he couldn’t squat at 6 years old. 

He recommended we have testing done for Duchenne Muscular Dystrophy, a condition completely foreign to us and most people.
Despite taking the recommended dosage of daily steroids to maintain muscle strength and frequent physical therapy Jason sadly lost ambulation at age 11.