Hear J.R.'s story,
as featured on KS95 For Kids.
Ask J.R. about his interests, and he'll proudly introduce a collection of more than 50 Minnesota Twins bobble-head figures. A lifelong Twins fan, J.R. excels at math and hopes to someday become a mechanical engineer.
When J.R. was a baby, his father, Jesse, noticed he wasn't keeping up with other infants his age. After more than a year seeking answers - and one scary misdiagnosis - Jesse met Steven Smith, M.D., a pediatric neurologist at Gillette Children's Specialty Healthcare.
A Complex Disorder
Smith diagnosed J.R. with congenital myopathy, a neuromuscular disorder that causes muscle weakness throughout the body. The condition limits J.R.'s ability to move his arms, legs and neck muscles. It also affects respiratory function, making breathing - especially during sleep - more challenging for J.R. than it is for other children.
Though not fatal, congenital myopathy is currently incurable. Its effects resemble those of muscular dystrophy, but the disease does not appear to be degenerative and its symptoms can be treated. It remains poorly understood in the medical community. Through his doctors at Gillette, J.R. participates in research studies aimed at identifying the disease's variants and, ultimately, finding a cure.
"He's a bright kid," says Jesse of J.R. "He wants to understand what's happening to his body, and that means asking questions." Jesse notes that J.R. always gets respectful, age-appropriate answers at Gillette. In addition, he sometimes gets a glimpse into neuromuscular research. "We're fortunate that many of J.R.'s doctors are directly involved in research projects," says Jesse. "They're proactive about getting him involved."
Becoming an Advocate
A naturally outgoing child, J.R. helps raise awareness of neuromuscular conditions through statewide events, speaking to crowds as large as 2,000. Being in the spotlight doesn't faze J.R. - in fact, he dreams of one day swapping his power wheelchair for a metal suit modeled after the movie Iron Man.
Because congenital myopathy affects virtually every area of J.R.'s body, his care involves many specialists. Jesse is grateful that Gillette offers a full range of services to meet J.R.'s needs. "At Gillette, we have a whole team of specialists advocating for J.R..," he says. "It's very reassuring."