The Vaishs have endured everything from blizzards to exploding plane engines to travel several times a month from Los Angeles to Nationwide Children’s Hospital in Columbus, Ohio. The motivation: their loving and spirited 12 year-old son Ryan, and finding a way to slow down the devastating muscle-wasting disease that threatens his life.
Ryan Vaish’s parents say that he was always a ‘healthy child,’ and never gave his unusual running gait or small delays in motor development a second thought. That changed after a concerned physical education teacher noticed Ryan was having trouble with certain activities. Ryan’s parents took him to his pediatrician, where a blood test confirmed that Ryan had a rare genetic disease called Duchenne muscular dystrophy (DMD).
“I kind of went crazy, hearing the diagnosis,” recalls Ryan’s mother, Ana. “We had never heard of Duchenne’s. When we learned about how the disease progressed, it was unimaginable that our sweet, happy-go lucky son could go through this. We were devastated.”
Affecting mostly boys, the disease slowly destroys muscle fibers in every part of the body, including the heart. DMD eventually steals a child’s ability to walk, run and breathe. Twenty years ago, most children with DMD would die of heart failure in their teens or early twenties.
That changed when Dr. Jerry Mendell of Nationwide Children’s Hospital working with other clinician scientists proved that steroid therapy could significantly slow the disease’s progression. The treatment ultimately became the standard of care worldwide, extending the lives of thousands of children. It was the same protocol that Ryan started on shortly after his diagnosis. However, it wouldn’t be the last time Ryan would benefit from the advances in DMD research made at Nationwide Children’s.
“As I started looking into the research that was going on, I found a clinical trial at Nationwide Children’s,” Ana says. “Even though the hospital was thousands of miles away, the researchers there were trying to delay the progression of the disease, and I wanted to give the best to Ryan.”
While Dr. Mendell’s research had changed the course of DMD treatment two decades earlier, he hadn’t been idle. The genetic complexities of DMD put a cure far into the future - but Dr. Mendell knew more could be done to catch DMD earlier and slow down its terrible course. The outcome of his work resulted in multiple studies aimed at doing just that. At age nine, Ryan joined one of these trials, and began making weekly cross-country trips to receive treatment.
“It takes us a whole day to get there, but when we do get there, there isn’t anything the staff wouldn’t do to help us feel better. And they are just fabulous to the boys,” says Ana, speaking fondly about the other study participants as if they were her own children. “The nurses are amazing getting IVs into the boys, making them laugh, setting up video games for them.”
Three years into the trial, Ryan is still walking, playing video games, horsing around with the dog and arguing with his little sister – a typical 12-year old living with a very atypical disease.
“His condition is stable now, but I think that Ryan probably would be completely confined to a wheelchair if we hadn’t started coming to Nationwide Children’s when we did,” says Ana. “I tell Ryan that his body may be weak, but that his brain is very strong, very sharp. He knows that he has played a part in something that will hopefully, one day, help so many other boys.”
Supported by a robust translational research program, Dr. Mendell and teams from Nationwide Children’s Center for Gene Therapy and Neurosciences Center work closely with other scientists at the hospital who are studying related disorders. Real-time information sharing between these teams has helped Dr. Mendell find new ways to help slow DMD’s relentless attack, including the development of experimental treatments that may be able to preserve muscle tissue.
Not satisfied with just slowing the disease, Dr. Mendell has also been developing a blood test that could help identify the disease at birth. Currently, most children aren’t diagnosed until age five, giving the condition years to gain ground before steroid therapy is usually initiated.
Using a system developed by Dr. Mendell’s research team, the DMD blood test could be easily integrated into the current newborn screening protocol which is used by every hospital in the nation. Positive feedback from the U.S. Department of Health and Human Services and support from national health foundations will likely help bring this innovation to millions of children worldwide within the next decade – marking another historical achievement from a team that has already improved the outcome of this disease more than once.
“Dr. Mendell has spent his entire career trying to find a way to change the lives of these boys. He and his team have made history over and over again. They are real-life superheroes,” says Ana. “But when Ryan comes in for treatment, they act like he’s the hero. The VIP. That makes every minute, every mile, every hardship getting here completely worth it.”