Comprehensive Neuromuscular Center

Patient Stories | Joel and Duchenne muscular dystrophy

Texas Family Goes the Extra Mile for Specialized Care at Cincinnati Children's—And It Saved Joel's Life

At 3 years old, Joel Poysky was diagnosed with a rare genetic disorder. Doctors didn’t expect him to live past age 15. It's a fatal condition, they said. Enjoy the limited time you have together, they suggested. 

His parents, Rachel and James, disagreed. They were determined to find the right medical care for their son so he could thrive despite the limitations of Duchenne muscular dystrophy. 

They started looking outside their home state of Texas and found Cincinnati Children's Comprehensive Neuromuscular Center. That was 17 years ago. They've been travelling twice a year to Cincinnati ever since. For them, the distance is not important when it comes to providing the best care for their son.  

“When you have a rare disease, it’s a game changer,” said Rachel. “Even though you might be surrounded by great medical care where you live, that doesn’t mean they have as much experience with that particular disease. So, you go where the experts are."

Finding the Right Specialists and the Right Schedule

James, who is a pediatric neuropsychologist, suspected his son had the disorder when he noticed Joel was not running or jumping like other children his age. Sure enough, a blood test and further genetic testing confirmed the diagnosis.

Duchenne muscular dystrophy is a genetic disorder in which a child progressively loses muscle throughout their body. Patients may suffer from speech challenges, problems with their heart and breathing, loss of strength in their arms and legs, and challenges with learning and behavior.

In Joel’s case, he is treated by a team of specialists. So when the Poyskys started traveling for Joel’s care, their providers at Cincinnati Children’s worked hard to accommodate the family’s schedule and reduce the amount of time spent in the hospital.

Rather than requiring the family to stay for a week or more while Joel saw all the necessary specialists, his providers scheduled his appointments one after another. He sees physical therapists, neurologists, pulmonologists and psychologists, and he undergoes cardiac magnetic resonance imaging (MRI) tests, bone scans, pulmonary function testing and other tests and therapies.

Not only are the visits compacted, but the providers also take the extra step of communicating with one another so the Poyskys don’t have to do it themselves. 

“When we’re in clinic and an issue comes up that involves another specialty, that doctor can find another doctor to answer the questions while we’re still there,” Rachel said. “Then, I’m not having to tell the cardiologist what the pulmonologist said.”

Care When Joel and His Family Needed it Most

Joel and his parents have come to depend on their caregivers at Cincinnati Children’s—not only during their twice-yearly visits, but also when they have questions or concerns about his health between visits. In August 2022, they had a big scare but knew they could trust their care team to get it resolved.

During a family vacation to North Carolina, Joel caught COVID-19. For the previous two and a half years, the Poyskys had successfully protected their son from the potentially deadly disease. When Joel finally got COVID, they were in a cabin hundreds of miles from home.

“He started coughing all night,” Rachel said. “It was getting worse, so I called Cincinnati Children’s.”

Rachel connected with pediatric nurse practitioner Lisa Reebals, APRN, through the online messaging system MyChart. Joel’s pediatrician had recommended that he receive an infusion of medication, and Rachel asked Reebals if they should get in the car and make the seven-hour drive to Cincinnati.

Reebals replied back, saying that Cincinnati was too far, and that she and the pulmonology team already had found a children’s hospital that was only 30 minutes away from where the Poyskys were staying. All of Joel’s records had been sent to the hospital, and all Rachel had to do was drive her son there.

“I didn’t have to think about anything,” Rachel said. “At the hospital, they were able to treat him so we could get him back home to Texas. The providers at Cincinnati Children’s went so far out of their way to find him a hospital and send all his records there.”

To Rachel, Reebals and the other providers went the extra mile. But for the team at Cincinnati Children’s, it was natural to want to do everything they could to help their patient.

“It’s a real philosophy of care and partnership,” said Reebals. “We say to ourselves, ‘How can we make this work for the family? What would meaningful care look like for me?’”

A Trusting Relationship

Looking back, Rachel can think of several other occasions when staff members went above and beyond to care for her son over the years. Once, after Joel became upset in front of a receptionist about an unexpected MRI, the receptionist took the extra step to make sure a child life specialist was present to help him with the procedure.

“We always know that when we’re at Cincinnati Children’s, they’re going to listen to what the child needs and put the child first,” said Rachel.

Joel is now 20, and though he is an adult, he's still able to see providers at Cincinnati Children’s, given his condition. He loves animals, enjoys volunteering at church and is active in his church’s college ministry. He attends community college and hopes to study history at a four-year school, with the assistance of a caregiver.

“When he started college, he went to the disabilities office and set up all his own accommodations,” said Rachel. “He advocates for himself now. That’s one of his strengths that he got from his providers. The doctors at Cincinnati Children’s treat him like he’s a part of the decision-making process—not just on the side.”

When Joel was born, he wasn't expect him to live long. Now, he’s a young adult and with the help of Cincinnati Children's is now thriving in a world that can be difficult for a man who uses a wheelchair and faces other physical challenges.

“Every day is a gift,” said Rachel.

(Published May 2023)