Our Healthy Baby at 8 Months Faces a Rare Disorder That Could Claim His Life by Age 10

Jack Drury is the only child of Tim and Kelsey Drury.

But over time, the milestones he should have been hitting didn’t come — and the joy of his early triumphs slowly gave way to fear.

Then came the devastating diagnosis: their only child had a rare, terminal disease so aggressive that most children don’t live to see their 10th birthday.

“I was having dreams of planning his funeral,” said Kelsey, 34, recalling the dark days after Jack’s diagnosis.

Now, against all odds, a flicker of hope has emerged. In New Jersey, a grassroots group is racing to launch the first clinical trial for a gene therapy that could give Jack — and others like him — a fighting chance.

Early signs, growing concerns

The Drurys first sensed something was wrong around 8 months, when Jack still hadn’t rolled over.

“He just kind of laid there and played, batting at objects above him,” Kelsey said. “Cognitively, he was fine — he would laugh and look at you.”

At first, it was easy to dismiss. Jack had been born two months early, and preemies often take longer to reach developmental milestones.

Jack was developing normally until just a few months before his first birthday.

“He was right on target with fine motor skills and babbling,” Kelsey said. “But around that time, we started to notice he was progressively falling behind.”

By 10 months, the Drurys had enrolled Jack in feeding, physical, and occupational therapy — yet no one could explain why he was slipping behind.

Over time, children with Jack’s disease lose their motor skills.

“I used to call him ‘spaghetti man’ because whenever we tried to get him to stand, his legs would just collapse,” Kelsey said. “That’s when we really started to worry.”

Hope and despair

The family was referred to a neurologist for genetic testing — but the lab lost Jack’s samples. For six agonizing months, the Drurys were left in limbo.

“Some days were filled with hope, others with really dark thoughts,” said Tim Drury, Jack’s father.

Finally, on July 1, a month after Jack turned 2, they received the diagnosis: infantile neuroaxonal dystrophy (INAD).

INAD is an extremely rare genetic disorder in which fatty substances build up on nerves, disrupting signals and slowly robbing children of muscle control, vision, speech, and cognitive abilities.

For a child to develop INAD, both parents must pass on a copy of the faulty PLA2G6 gene. Carrier screening exists, but the process can be complicated due to the disease’s rarity.

There is currently no known cure or treatment to slow its progression. Worldwide, fewer than 250 children have been diagnosed, according to the National Organization for Rare Disorders.

Only a handful of children in the U.S. are living with INAD.

The diagnosis was devastating — a disease so rare that even their doctors were caught off guard.

“Not only had we never heard of it, but the neurologist who gave us the genetic results admitted she hadn’t encountered it before,” said Tim, 37.

Their pediatrician and therapists were equally unfamiliar with the condition. But one doctor had heard of the INADcure Foundation and directed the Drurys to it.

“It turns out that, out of all the places in the world, the only foundation pursuing a potential treatment — and aiming for a cure — is right here in New Jersey,” Tim said.

For years, the nonprofit has collaborated with scientists to develop a gene therapy designed to deliver a healthy copy of the PLA2G6 gene — the one affected by INAD — to the cells that need it.

“The goal is to address the root cause of INAD, with the hope of slowing or stabilizing disease progression,” said Leena Panwala, the foundation’s founder and president, in an interview with The Post.

Gene therapy treatments for INAD are showing promise.

The Drurys launched Jack’s Miracle Mission, sharing their story in a heartfelt video online. Kelsey expected only a trickle of donations — but instead, a tidal wave of support poured in.

“It took us six days to close the gap on the $450,000,” Tim said.

What began as gifts from family and friends quickly snowballed into broader community support, including contributions from celebrities like Real Housewives of New Jersey star Danielle Cabral and Nicole “Snooki” Polizzi of Jersey Shore.

The INADcure Foundation is awaiting FDA approval to launch its clinical trial, with enrollment set to begin as soon as it receives the green light.

“They have a goal to start early next year,” Tim said.

With just 10 spots available, Jack’s place isn’t guaranteed.

“Jack is one of the younger participants globally, so there’s certainly potential that he’ll be part of this study,” Tim said.

The treatment is expected to cost around $200,000 per child. Jack’s Miracle Mission is working to raise $2 million to cover the full cost of the trial.