When chatting with Adrian, it’s easy to forget that he’s only 7 years old. 

Happy, poised and confident beyond his years, he can make a new friend out of a stranger in no time. 

“He’s like his dad,” his mom, Jocelyne, says with a laugh. “He’ll talk to anybody.” 

A budding artist at heart, Adrian will show off his latest drawing from a sketchpad he always keeps nearby. He also loves to swim, and to have adventures with his cousins and little brother. 

There is something sacred about the pleasures of childhood. Adrian’s mom and dad want him to enjoy being a kid as much as he can — because, in his 7 years of life, he has had to contend with some very serious, grown-up issues. 

Diagnosis

When Adrian was a toddler, his parents noticed that he was slow in learning to walk. He would stumble and fall more than other kids, often coming home from preschool with scraped knees. 

His parents were concerned, and for good reason. A series of doctor visits led to genetic testing and ultimately, a diagnosis that no parent wants to bear.

At age 4, Adrian was diagnosed with Duchenne muscular dystrophy (DMD). The disease mostly affects boys and is caused by a genetic mutation that prevents the production of dystrophin, a protein vital to the protection and support of muscle fibers. DMD is characterized by progressive muscle weakening and degeneration. It also impacts other organs, including the heart and lungs. It occurs in one in 3,500 to 5,000 newborns. 

The news that their beloved boy has a challenging, progressive disease was devastating at first. But Jocelyne and Adrian’s dad, David, knew that their son was counting on their strength and love. 

“We knew that if we didn’t snap out of the way we felt, that we wouldn’t be able to help him,” Jocelyne says. “We needed to get it together, to choose a different way.” 

Expert Care 

For a time, the family received care at a clinic in Gainesville, Florida, but soon they learned about the Muscular Dystrophy Association (MDA) Clinic at Johns Hopkins All Children’s Hospital in St. Petersburg, much closer to their Brandon home. 

The interdisciplinary clinic provides coordinated specialty care in all areas related to Adrian’s diagnosis — including neurology, cardiology, genetics, pulmonology, pediatric rehabilitation medicine and others. 

Matias Lopez-Chacon, M.D., is a pediatric neurologist trained in neuromuscular medicine and is co-director of the MDA Clinic.

“We always strive to stay one step ahead,” Lopez-Chacon says. “We have an understanding of the progression of these diseases. We want to help these kids thrive and to have the very best life.” 

Adrian’s parents are grateful for all of the care Adrian has received at Johns Hopkins All Children’s. 

“They’ve been great,” David says. “I honestly feel they’ve gone above and beyond.” 

There is no cure for DMD, but with continuing research, improvements in medications, evolving therapies, and other advancements in care, patients are living longer and fuller lives. 

The Nagy Lab at Johns Hopkins All Children’s has published peer-reviewed research, led by Andreas Patsalos, Ph.D., and Laszlo Nagy, M.D., Ph.D., that may lead to improvements in care for patients with inflammatory diseases such as Duchenne. The team is studying specific proteins in white blood cells that direct muscle repair in the body with the hope they can better target treatments to promote healing.

Currently, Adrian is on a regimen of corticosteroids that seems to be working well for him in helping to slow the progression of the disease.

He walks and moves around well, but he needs help with things like showering or going up stairs. 

Physical therapy has played an important role in Adrian’s success. Physical therapist Heather Davis strikes a delicate balance when working with children who have DMD. 

“With a typical person, when we work out, we tear down those muscle fibers, and they come back stronger,” Davis says. “But with Duchenne, it doesn’t work that way. So, we teach these kids how to use their muscles in a different way.” 

Using games and fun tools on the therapy floor such as obstacle courses, Davis has helped Adrian with strength, balance and endurance. 

One of the most important things she has worked on with Adrian is helping him to advocate for himself — to take a break when he’s tired, to ask for help, to set boundaries — skills he will continue to benefit from along his journey with DMD.

His dad jokes that his boy might be learning some of those skills a little too well. 

“He’ll say, ‘Dad, I’m tired. Will you carry me? And I break every time,” David says with a chuckle. 

“We’ll be at Busch Gardens, and here’s dad, carrying this big baby on his back.

“But being Adrian’s dad is an amazing experience. I wouldn’t trade it for the world. His mom and I will always be there for him.”