The first thing that strikes you about Gina Fox is her smile. “Hello, friend!” she greets everyone, even strangers. She exudes a positive vibe that can’t be ignored. Those around her smile back, feeding off of her energy.
She and her husband, George, along with their 10-year-old son, Phoenix, are a model family. High school sweethearts, Gina and George grew up together in the Florida Keys, married and settled down in their laid-back hometown of Islamorada. That’s where Gina, who has been an entrepreneur for more than 15 years, opened her first Down to Earth boutique in 1998. Four years later, Phoenix was born.
When Phoenix was about 1-and-a-half years old, the Foxes sold everything and moved to Gainesville. What prompted the sudden move wasn’t a job opportunity; it was a life opportunity.
Living While Dying
Phoenix suffers from Pompe disease, a rare neuromuscular disorder that results in progressive muscle weakness and is caused by a genetic defect that prevents an adequate production of a key enzyme, acid alpha-glucosidase.
Most children born with the disease die before they reach 1. However, thanks to the research and efforts of Barry Byrne, MD, PhD, a pediatric cardiologist and research scientist at Shands, Phoenix has overcome those odds; but Gina and George continue the daily battle to keep him alive.
Phoenix is like most 10-year-old boys: he loves music, movies, video games, and surfing the net. He’s a part-time student at Hidden Oak Elementary School and is homeschooled on other days. He can be impatient and gets frustrated easily: a typical kid.
Typical, except that Phoenix lives life in three-hour segments. That’s how long he can sit or lay still. Plus, the batteries in his five life support machines don’t last too many hours, so he and his parents are always watchful, ensuring there’s enough power to keep him breathing. They also must keep him moving, including at night, when they roll him every three hours to avoid bedsores.
Unlike most boys, Phoenix doesn’t move or breathe on his own. He cannot eat, speak or express himself unless he uses a device that sits on his head and senses where his eyes move on a page. That’s how he communicates.
Phoenix is physically helpless, relying on Gina and George for everything.
As a result, he doesn’t have a lot of friends. When they go on a family walk, other kids stare. Society stares.
“As a parent, it is frustrating how ignorant and uninformed people are,” says Gina as she shakes her head.
But Gina insists that the disease does not control them. Instead, it focuses them on the challenges of each day.
“We live simple lives. We’re down to earth,” says Gina. “As long as he’s comfortable and happy, then we’re happy.”
The First Years
In Islamorada, the Foxes had what Gina calls a “big life.” George has a marine electronics background and worked with big boats and yachts, while Gina ran her successful boutique.
In 2002, their “big life” came to a halt.
“We were called and tested to be parents,” Gina says.
If anything will test you as a couple, she explains, it is a disease within your four walls. She emphasizes that it tests your character, patience, sanity and humility. Phoenix’s disease is at the forefront of everything in their life.
During Phoenix’s three-month well check, the pediatrician noticed what he thought was a heart murmur. Concerned, the physician consulted with a surgeon in nearby Miami, who diagnosed Phoenix with hypertrophic cardiomyopathy, a condition in which the heart muscle becomes excessively thick. Tests also showed that Phoenix’s heart was three times the size of a normal heart. Miami surgeons recommended a heart transplant and wanted to put Phoenix on the transplant list.
The family spent their first Christmas together at Miami Children’s Hospital. Phoenix continued to get sick, and Gina – perhaps due to “mother’s intuition” — knew they were on the wrong path.
Gina’s mother recently had had surgery at Shands, so Gina contacted the pediatric department there hoping for a more accurate diagnosis. After hearing all of Phoenix’s symptoms, Byrne diagnosed and — following an EKG, fiberblast and echocardiogram — confirmed that Phoenix had Pompe disease.
Gina immediately knew she had found the right doctor. He was a specialist and on the edge of a major breakthrough.
“This was the guy who was going to save our son’s life!” Gina exclaims.
By then, Phoenix was 6 months old and time was not on his side. He almost died when he was 10 months old due to mitral valve regurgitation. He also had a pic line, a muscle biopsy, and a feeding tube in his nose that he would regularly pull out.
Traveling back and forth from Islamorada to Gainesville became unbearable and dangerous.
Once they moved to Gainesville, the Fox family spent most of their time at the hospital. Phoenix aspirated while eating and was rushed to the ER when he was 5. They spent the next 4 months at Shands, treating him for pneumonia. That’s when he was first ventilated.
“Once he went on a ventilator, he was able to fight the pneumonia,” Gina says. “The ventilator helped him turn a corner. We hadn’t realized how difficult breathing had been for him until then.”
These days, George is a stay-at-home dad while Gina runs her Down to Earth boutique in Tioga Town Center. Gina can no longer care for Phoenix when she is alone for long periods of time because he is too heavy for her to lift. The role reversal is not something they would have chosen, but it is the best option given their circumstances.
“You have to step back and think: Maybe ‘Plan B’ is what it’s all about,” says Gina. “The disease is so much bigger than you. Sometimes I feel like I’m watching a child in a pool, and he can’t swim, so you have to keep your eye on him to make sure he’s okay.”
But there is hope.
In April of 2011, Phoenix had a gene therapy transfer as part of a clinical trial. Byrne injected Phoenix’s diaphragm at the UF Powell Center for Rare Disease Research lab. Phoenix was the best responder to the trial and was even able to come off his ventilator for three hours. He seemed more comfortable and could tolerate his sickness better.
Phoenix and the other children participating in the trial are the future of Pompe. They, and the researchers helping them, are moving science.
In the future, there may be a cure using systematic gene therapy. This will allow medical experts to target nerves, which will then target the muscles affected by the neuromuscular disease.
“’Cure’ is such a four-letter word, I’ve learned,” Gina says.
“Parents grab hope of a cure and then don’t live in the moment. They need to let go of that because … what if it never comes?”
For now, Phoenix receives an infusion of enzymes at home. The procedure takes four hours and is administered every two weeks. Sometimes it takes longer. Gina emphasizes, patience is always at the forefront.
Gina’s many “friends” help on a daily basis, coming into her store and sharing their stories and confiding in her. That is cathartic. When she comes home from work at 6 p.m., she is ready to start her “shift” and relieve George so he can cook, golf or do something for himself … at least for an hour or two.
Other than a nurse who comes three times a week, George is Phoenix’s primary caregiver. He even sleeps on the floor next to Phoenix so that he can roll him during the night.
George and Gina are accustomed to it, but it is difficult, particularly when Phoenix doesn’t sleep well. As Gina explains, it is like having an infant forever.
Nevertheless, Gina is grateful.
“He has taught me a lot…more about my life than anyone else,” Gina says. “And he’s never spoken a word.”