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. But 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. And 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,” said Dr. Natalie Katz, a pediatric neurologist at Duke Health.
Now, one of the biggest advances in treatment is being done at Duke Health: it’s a weekly IV infusion called exon-skipping.
“It will help rejoin those ends so that you get a mostly functional protein,” explained Katz.
It doesn’t cure DMD, but doctors say they’re helping many kids, like Creed, stay stronger, longer.
“When I met him a couple of years ago, he was still and is still walking,” recalled Katz.
For Creed, it allows him to keep up with friends and push forward not only for himself but for others.
“Being strong when not everyone else can,” he told Ivanhoe.
New options now include updated steroid treatments, non-steroid medications designed to help prevent muscle scarring, and emerging gene therapies aimed at delivering a working version of the missing protein that causes Duchenne.
Researchers around the world continue testing these new drug and gene-based treatments, with the goal of slowing, and one day stopping, the disease.