Walt Disney World isn’t necessarily the happy “where-dreams-come-true” place when you have a ventilator the size of a car battery strapped to a wheelchair as you sprint from ride to ride, fearful of losing power.
“We rushed from the tram over to the Magic Kingdom and went straight to the Pirates of the Caribbean ride,” explains George Fox, the father of 6-year-old Phoenix, as he recalls a recent family trip. “As soon as we got off the ride, we rushed right back to the tram to get back to our hotel room; the battery was dying. We realized this wasn’t going to work.”As parents of a child who depends on a ventilator to breathe, George and Gina Fox are always on high alert. They take turns waking an average of six times a night to turn Phoenix over and help him sleep comfortably.
Their son suffers from a rare form of muscular dystrophy called glycogen storage disease type II, also known as Pompe disease.
“Life with Phoenix is like watching a child swimming who is not able to swim,” says Gina. “Only that’s what we feel like 24/7.”
The Fox family lived in the Florida Keys when Phoenix was diagnosed with a heart condition when he was 3 months old. His doctors could not determine what was causing the problem.
“For months, Phoenix was examined by so many doctors, but none could pinpoint a diagnosis,” Gina says. “All we wanted to know was what was wrong with our child. They drew blood. They ran different tests — but nothing.”
Their hope was waning.
One phone call on a Friday afternoon from Dr. Barry Byrne, a pediatric cardiologist and microbiologist at the UF College of Medicine, led them to the answer.
They happened to find Byrne after receiving a phone call from Shands at UF personnel who were following up on an unrelated previous surgery. The call prompted Gina to contact the pediatric cardiology unit at Shands Children’s Hospital.
She explained her son’s condition to a just a few nurses before one connected her to Byrne.
“I specifically remember Dr. Byrne telling me to send Phoenix’s EKG (electrocardiogram) and he’d be able to eliminate Pompe disease once and for all,” Gina says. “The EKG was sent that afternoon, and Byrne called back within an hour and said he was 99 percent sure Phoenix had Pompe.”
The news was devastating. The couple quickly learned that Pompe disease is a complex disorder that usually takes a child’s life before age 2. But the parents also were relieved to have a diagnosis; to find not just a physician who could identify their son’s disease but a scientist who has dedicated his career to finding a cure.
The following Monday the family made the trip from South Florida to Gainesville to meet Byrne. That first appointment was the start of a new life and a new home for the Fox family. About four weeks later, the family moved to Gainesville from their home in Islamorada, so Phoenix could be closer to the treatment offered by Byrne and the UF Powell Gene Therapy Center.
“Meeting with Phoenix’s parents on that first day was the beginning of a long educational process,” Byrne says. “Understanding the uncertainty of Pompe disease is one of the biggest challenges for a family, really for anyone involved in caring for these patients.”
Byrne, director of the Powell Gene Therapy Center, has studied the use of gene therapy to restore muscle strength in people with muscular dystrophy for almost 15 years. Those with muscular dystrophy inherit a mutated gene unable to produce a crucial enzyme, and their muscles become increasingly weak as the disease progresses. Eventually, patients experience respiratory failure.
Phoenix is unable to do most simple tasks such as breathing without a ventilator, walking or even standing. He cannot roll over while lying down, and he cannot talk or eat because the small muscles in his throat and mouth also are affected.
Currently, no long-term treatments are available for any form of glycogen storage disease. The UF Powell Gene Therapy Center is one of only a handful of centers tackling the disease, and a new therapy designed to maintain heart function and increase muscle strength by infusing the body with the missing enzyme has helped extend Phoenix’s life and offered hope in the form of time.
This fall, Phoenix and several infants will participate in a gene therapy clinical trial to “infect” cells of Pompe patients with the genetic machinery they have been missing since birth.
“Ultimately we hope that by restoring the function of this gene in both muscle and nerve, the patients may have improved respiratory function and possibly breathe independently,” explains Byrne, who also is a member of the UF Genetics Institute.
But the Foxes aren’t leaving all the work to Byrne and his colleagues at the College of Medicine. The couple not only relocated their home to Gainesville, they also moved their business and are doing their part to give back to the community.
They own Down to Earth, a clothing boutique in Gainesville’s Oaks Mall that offers customers unique gift items as well as an opportunity to help fund medical research that could help bring them closer to a cure for their son’s disease. Approximately 10 percent of the store’s sales go to the Phoenix Fox Research Fellowship, which supports Byrne’s work by funding a research fellowship for postdoctoral students working under Byrne.
“Because this fund is in its early stages, we have focused on attracting a trainee involved in the effort,” Byrne says. “The best investment that can be made in a rare condition like Pompe disease is to get a lifelong commitment from a researcher.”
The Foxes say it is a good investment, not just for their son’s future but for all those who suffer from the many forms of neuromuscular diseases.
“UF is partly responsible for saving our son’s life, so we want to do everything we can to help UF,” George says.