Javier Gonzalez leans over the crib and lifts his infant son, Joshua Jacob, into an embrace, until a tangle of power cords and a plastic tube attached to the boy’s throat get in the way.
Gonzalez holds the boy, nicknamed JJ, with one arm, and uses the other to brush aside the connections to the medical devices beside the crib, including a ventilator so he can breathe through a hole in his throat, and a suction machine to keep his airway clear.
Gonzalez steadies JJ’s neck with a gentle hand and coaxes the 20-month-old to greet a stranger.
“Say hello,” Gonzalez says in a singsong voice, and JJ slightly shakes his head.
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Like many of the muscles in JJ’s body, the ones in his neck are weakened by a rare genetic disorder called X-linked myotubular myopathy, which primarily affects boys. The disease causes such severe muscle weakness that those born with the condition miss the motor-skill milestones that mark a newborn’s development into a toddler.
JJ cannot lift or turn his head, or sit up without falling over — tasks that most infants accomplish by 6 months of age. And he cannot breathe or swallow without the help of machines to perform the work that his diaphragm, tongue and esophagus are incapable of doing on their own.
Because of their severe breathing problems, babies with X-linked myotubular myopathy usually survive only into early childhood, though some have lived into adulthood.
“Seventy percent don’t make it to 2 years old,” said Jessica Gonzalez, JJ’s mother. “And 95 percent don’t get to 10 years old.”
To provide JJ’s daily therapy and prevent him from choking on saliva or developing pneumonia and other complications related to his disease, the Gonzalezes depend on electronic medical devices.
The medical ventilator can run only a few hours on a battery pack, Jessica Gonzalez said, but other devices need power to feed JJ, who has a tracheostomy to suction his throat of saliva and mucus, and to gently squeeze and shake free fluid that accumulates in his lungs.
A power outage could be deadly for JJ, which is why the Gonzalezes evacuated before Hurricane Irma made landfall in South Florida on Sept. 10.
The Gonzalez family, which includes JJ’s older sister, Bella, 9, spent nearly two weeks away from home, driving in a medically equipped van to Jacksonville, then to Georgia, Alabama and Mississippi in a dizzying effort to dodge the storm’s shifting track.
Sheltering in place was not an option, they said, and checking into a local hospital would have meant that the family would be separated because only one parent was allowed to stay with JJ during the storm and 24-hour medical attention was not guaranteed.
The National Institutes of Health estimates that the incidence of X-linked myotubular myopathy is 1 in 50,000 newborn males worldwide.
The family decided that leaving town was a safer option, Javier Gonzalez said. But when they returned to their home in Miami’s Fontainebleau neighborhood, the Gonzalezes discovered that the roof had collapsed in several places, leaving large holes in the ceiling of their living room and master bedroom.
Javier Gonzalez said the holes can’t be patched, and that the roof must be replaced. The family applied for disaster assistance through the Federal Emergency Management Agency but received a letter in November turning down their request because the house is safe to occupy and they have insurance, which Gonzalez said has denied their claims.
They were planning to move JJ’s bedroom into the living room, where there’s more space for the medical devices and an electric hospital bed to replace the crib, which he is outgrowing. But they’re worried that the holes in their roof will cause further damage, including mold, which could affect JJ’s ability to breathe.
“I don’t know if mold is growing and circulating through the house,” Jessica Gonzalez said.
The Gonzalez family is asking for help replacing the roof of their home, which they estimate will cost about $9,000.
“We live paycheck to paycheck but still can’t afford everything,” Jessica Gonzalez said. “We’ve struggled a lot to make certain payments.”
The Gonzalez family’s finances weren’t always strained. When JJ was born in March 2016, Jessica Gonzalez was working as a registered nurse in cardiac surgery at Baptist Hospital Miami.
We’ve struggled a lot.
Jessica Gonzalez, whose son has X-linked myotubular myopathy
Javier Gonzalez, a veterinary technician, said the family bought their home knowing they would need two incomes to make ends meet. But after JJ’s birth, Jessica Gonzalez said the boy’s repeated medical emergencies meant she had to quit her job and care for her son full time.
Even though Medicaid pays for a nurse to watch JJ around the clock, she said it takes at least two people to respond to a medical emergency.
“You can’t safely treat the emergencies these children die with if you don’t have a plan for multiple people to take care of him,” she said. “You have to be quick.”
For parents of children born with X-linked myotubular myopathy, the healthcare system is often inadequate for their needs, said Alison Frase, who started the nonprofit Joshua Frase Foundation to support research into the genetic disorder after her son was born with it in 1995.
“It is a 24-7 intensive, one on one,” said Frase, whose son lived to 15 before he died of complications from the disorder in 2010. “Even if your child goes into the hospital, you end up taking care of your child because these nurses aren’t capable of standing there, one-on-one, with these kids. You need to know how to respond.”
Caring for a child with the disorder can also be financially draining, she said. After her family’s health insurance ran out, Frase said, “We blew through all of our savings caring for our son.”
There is no treatment or cure for X-linked myotubular myopathy. But the Gonzalezes said they have found hope in a novel study for a gene replacement therapy that has shown early promise in animal tests.
The Gonzalezes said they also have grown personally from the experience with JJ.
“We both believe that he’s here for a reason, and we have no idea what it is,” Javier Gonzalez said of his son. “But we want to give his life as much purpose as possible, and to use his story to, hopefully, encourage others.”
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