WORCESTER (CBS) — Caring for a child with Duchenne Muscular Dystrophy can be incredibly challenging, but thanks to a local family’s philanthropy and a local medical school’s commitment, treatment is becoming easier for patients and their families.
At just over a year old, Diego Ramirez was diagnosed with Duchenne Muscular Dystrophy, or DMD, a progressive genetic disorder in boys that leads to muscle breakdown.
“His muscles felt a little tighter for me, and I felt he was delayed in his development,” said Diego’s mom, Leslie Guzman.
Most boys with DMD lose the ability to walk by age 12 and over time, develop a host of other health problems, requiring families to invest large amounts of time and money shuttling from specialist to specialist.
Tracy Seckler’s son, Charley, was diagnosed with DMD at age four. They traveled all the way to Cincinnati for comprehensive care.
“Then there are the other people who unfortunately don’t have the means or the availability to travel far away,” said Tracy.
“As a mom, I’ve always known that there was something missing here in the Northeast, “ explained Tracy.
Dr. Brenda Wong is one of the country’s preeminent DMD experts and the program’s director.
“We provide them with this medical home for coordinating care so it’s a one-stop-shop for them.” Dr. Wong said
Patients come from all over the world to get testing, participate in research, and see all of their providers like cardiologists and physical therapists in just one-to-two days.
“So when you have someone who is not taking care of just one aspect but in such a comprehensive way and in such a caring and human way, it feels like there’s someone putting wings in myself and lifting me so I don’t feel that weight on me alone,” explained Leslie.
And Diego is beating the odds.
“He’s walking at 15,” said Dr. Wong. “He’s getting up from floor to a chair at almost 15, and he’s starting high school.”
And he plans to go to college.
“I hope other kids with Duchenne keep on walking and even though they can’t walk, that they still never give up,” said Diego.
In 15 years, Charley’s Fund has directed more than $45 million to research and initiatives to find a cure for DMD.
And Charley, now 19, is living independently as a freshman at NYU.