Breakthroughs in treatment offer hope for rare Duchenne muscular dystrophy

(WISH) — About one in every 3,500-5,000 boys worldwide is born with Duchenne muscular dystrophy, or DMD, a rare genetic condition that causes muscles to weaken over time.

For decades, families have been told there was no cure and few treatment options. However today, new treatments and gene-based therapies are beginning to change what life with Duchenne can look like.

Fourteen-year-old Creed Kolasa is funny, competitive, and, like most teens, just wants to have fun. Creed is doing it all while living with DMD.

“It’s where my bones aren’t as strong as everybody else’s,” he explained.

DMD is usually diagnosed in early childhood and can change the course of a family’s life in an instant.

“I remember just, I couldn’t breathe. I’m looking down at this little five-month-old precious little boy and thinking what am I gonna do here?” recalled Creed’s mom, Jessica.

For years, options were limited. Duchenne is caused by a missing protein called dystrophin. Without it, muscles weaken over time, with life expectancy historically in the mid-20s.

“I have had several families describe it as robbing you of your child and the life you expected for them, which is really hard,” Dr. Natalie Katz, a pediatric neurologist at Duke Health, said.

Now, one of the biggest advances in treatment is being done at Duke Health: it’s a weekly IV infusion called exon-skipping.<...