Gavin’s Story: Spine Surgery to Correct a Deformity Caused By a Rare Genetic Neuromuscular Disorder

Though Gavin is only 5 years old, his life already has more twists and turns than most people will have in an entire lifetime. It began with a traumatic birth at a hospital near his hometown of Harrisburg, Pa. His mother, Christie, spent 40 hours in labor. When Gavin was finally born via vacuum extraction, he was gray and lifeless. He was rushed to the neonatal intensive care unit, his survival in question. Moments later, Christie hemorrhaged and fell unconscious.

Gavin’s father, Greg, thought he was going to lose both his newborn son and his wife. “It was the scariest day of my life,” Greg recalls.

Fortunately, Christie recovered and was discharged after five days in the hospital. And while Gavin initially suffered stridor and respiratory issues, his condition eventually stabilized. But the list of things the NICU doctors said were wrong with him was seemingly endless and the prognosis dismal. Gavin had some sort of neuromuscular condition the doctors couldn’t pinpoint. His neck had two 90-degree curves, his rib cage was misaligned, and he was unable to open his hands from fists.

Gavin was discharged home in a cloud of uncertainty. At an orthopaedic appointment a month later, Greg and Christine were told their son would never walk or use his hands.

“The doctors had never seen anything like Gavin, therefore they had no reason to think there would be a good outcome,” says Greg.

It wasn’t until Gavin was 2 years old and a neurologist near their home recommended the parents go to Children’s Hospital of Philadelphia (CHOP), which has a specialized Neuromuscular Program, that the outlook for Gavin began to change.

Hope in the subspecialized care at CHOP

At CHOP, a care team including specialists from Orthopaedics, Neurology, Pulmonology and Genetics united to perform a comprehensive evaluation of Gavin’s medical issues. After Gavin’s first appointment, Christie called Greg and said, “There’s hope here.”

“CHOP has a pediatric pulmonologist who specializes in difficult airways,” says Greg.

“She sees four to five kids a day with conditions like Gavin’s, whereas other hospital specialists maybe see four in their career. It’s just a different level of care.”

A genetic panel found that Gavin has three rare genetic conditions. One of them — congenital myasthenic syndrome — can result in skeletal abnormalities. Gavin was diagnosed with severe kyphosis, a forward curvature of the spine in his upper back, and was placed under the care of Patrick Cahill, MD, a pediatric spine specialist and Director of CHOP’s Center for Thoracic Insufficiency Syndrome.

Dr. Cahill is an expert in treating severe and life-threatening spine, lung and chest wall conditions, including kyphosis and neuromuscular scoliosis. He is one of the few fellowship-trained spine surgeons practicing in a pediatric spine center, giving him added insight and extensive experience in complex cervical spine disorders. Patients travel from all over the country and world to obtain the specialized care Dr. Cahill and his team at CHOP provide.

Gavin returned to CHOP for follow-up appointments with Dr. Cahill every six months to monitor the progression of the curve in his spine. If the curve progressed too far, it could compress Gavin’s spinal cord and cause paralysis. Spinal fusion surgery can stabilize the spine and halt progression of the curve, but such definitive surgery is ideally done after a child has reached skeletal maturity. For that reason, Dr. Cahill hoped to delay Gavin’s surgery for as long as possible.

But when Gavin was 3, the curve in his spine had progressed from 90 degrees to 130 degrees. He couldn’t hold his head up (he had to rest it on his shoulder), and he was beginning to lose motor and sensory function below his waist. Dr. Cahill knew it was time for surgery.

Collaborating across disciplines to change lives

A unique collaborative surgical team consisting of orthopaedic surgeon, Dr. Cahill, and neurosurgeon Benjamin Kennedy, MD collaborated to create a plan for surgery that would involve spinal cord decompression, spinal fusion and growing rod implantation. Prior to surgery, Gavin spent four weeks in halo-gravity traction to achieve as much nonsurgical correction of the curve as possible.

After surgery, Gavin spent three months in a rehabilitation hospital near his home. He defied all expectations by walking out of rehab using a walker. At his first postsurgical follow-up appointment, both Dr. Kennedy and Dr. Cahill were brought to tears to learn everything that Gavin was able to do, and they continue to be amazed by his progress. 

“He’s responded to treatment better than anyone could have anticipated,” says Christie.

Gavin is now a happy, active 5-year-old who runs, jumps and plays soccer using a walker. He has gone rock climbing and been on a stand-up paddle board.

“Growing rod surgery has been life-changing, not just for Gavin but also for us as parents,” says Greg. “I feel like I have a front row seat to a medical miracle. When he was born, we were told he wouldn’t live past day three of his life. When he was 45 days old, we were told he wouldn’t walk. At a little over 3 he showed nearly no leg function, and at 5 he plays soccer with his friends at preschool.”

Hard work pays off

Gavin is also able to use his hands, which is a credit to the hard work he’s put into occupational therapy, physical therapy and speech therapy sessions since infancy.

“There was a time when Gavin was doing almost 12 hours of therapy a week,” says Christie.

One of the genetic conditions Gavin has affects his hearing. He attends an all-deaf preschool and uses an iPad and sign language to communicate. He sees a CHOP audiologist regularly and recently underwent surgery at CHOP for a cochlear implant.

It’s reassuring to Christie and Greg that whatever health issue Gavin may face, there is a program or subspecialist at CHOP who can help address it.

“We have the most amazing team, and it’s a big one,” says Greg. “They are fantastic, and I can genuinely say that I know they want to see him succeed and they want to see him succeed for a long time.”