“I still remember that phone call,” Rebekah Smith recalled of getting her son’s spinal muscular atrophy diagnosis shortly after his third birthday. “For years I was wondering what was wrong with Jonah. Knowing and having that information has made a huge change in our lives because now we know what we’re dealing with and how to treat it.”

Jonah’s journey to a diagnosis of spinal muscular atrophy

When Jonah was born, both of his hips were dislocated, he had two broken femurs and both of his feet were turned up and out. For Rebekah and her husband, Jonathan, Jonah’s challenges were a shock because “as far as we knew, we were having a perfectly healthy child.” Wanting to know more, the Smiths traveled to an out of state hospital to meet with a geneticist when Jonah was one month old. The following month, they met with the genetics team at CHoR and began a series of tests as they searched for answers.

Before his first birthday, Jonah met with specialists from neurology and orthopaedics and began receiving early intervention services through Chesterfield County. When he was 10 months old, Jonah had surgery on his hips and began crawling, something Rebekah said he could barely do before the procedure. Less than a year later, he had surgery on his feet, and by age 3, he began regular physical and occupational therapy at our Petersburg Therapy Center. After his diagnosis, he also began seeing specialists from our physical medicine and rehabilitation team.

SMA is no match for Jonah and his love of basketball

Jonah’s official diagnosis is spinal muscular atrophy with lower extremity predominance 1, which was caused by a spontaneous gene mutation and is a different gene mutation than the one occurring in the more common type of SMA. In Jonah’s case, SMA-LED1 causes weakness only in the lower extremities by affecting muscles and motor skills. Although he uses a wheelchair most of the time, Jonah is able to walk short distances with leg braces and walking sticks. Prior to having two foot surgeries last fall, he was learning to use braces and walking sticks to climb stairs. Although he’ll need future surgeries on his knees, Rebekah said they’re waiting so he doesn’t miss any more of his kindergarten school year.

“I like coming to the hospital because they make me feel better,” Jonah said during a Zoom interview. While he was more interested in showing off his remote-control car and watching his reflection on the screen, he was excited to talk about playing basketball through Sportable, a local adaptive sports club, and his favorite coach, Derek.

“Dribbling is my favorite part,” Jonah said of the sport he’s been playing for a year.

Representing CHoR on the big court at a VCU basketball game

In January, Jonah represented CHoR at a VCU Rams men’s basketball game and presented the game ball with Dr. Shari Barkin, physician-in-chief of CHoR and chair of the Department of Pediatrics at VCU School of Medicine.

Because Jonah also has scoliosis and ADHD, Rebekah acknowledged that playing basketball and swimming, also through Sportable, keep him active and help him focus. They also help build his confidence and provide a sense of community with other kids.

CHoR specialists make coordinated care easy for Jonah and his mom

“Despite everything Jonah’s been through in his short life, he’s the strongest person I know,” said Rebekah. “He is the most fearless and inspirational person you will ever meet.”

Rebekah said she appreciates the chance to meet with Jonah’s team of specialists every six months to answer her questions and access any resources she needs. Having everyone in the same room “makes our lives easier,” she noted.

Rebekah met Dr. Chester Sharps, Jonah’s orthopaedist, when he assisted with Jonah’s hip surgery at 10 months old. When it was time for Jonah’s foot surgeries last fall, Rebekah knew her son was in good hands.

“Dr. Sharps explains everything in easy-to-understand terms,” Rebekah said. “He is so patient and makes me feel so secure.”

With two other children at home, Rebekah said not having to travel for Jonah’s care is one of the things she loves most about CHoR. But the list doesn’t end there.

“Children’s Hospital of Richmond at VCU has every specialist we need including therapists, and the resources are more than I could ask for,” Rebekah said. “When I became a mom of a handicapped child, I didn’t know what to do or what to expect. Jonah’s team has held my hand every step of the way.”

By Alissa Poole

Meet our other inspiring calendar kids on the CHoR blog.