Jack Drury made a remarkable entrance into the world.
Arriving at only 33 weeks gestation, this premature baby surprised medical staff by breathing independently and leaving the neonatal intensive care unit just 17 days later, heading home to New Jersey.
“They reassured us he would be okay,” shared his mother, Kelsey Drury, with The Post.
Initially, it seemed like he was doing well.
However, as time passed, Jack began to miss important developmental milestones, turning the family’s joy into anxiety.
Then came the heartbreaking revelation: The Drurys’ beloved son was diagnosed with an uncommon, terminal illness so severe that most children do not survive past their 10th birthday.
“I found myself envisioning his funeral,” Kelsey, 34, recalled the ordeal that ensued after Jack’s diagnosis.
Now, against all expectations, a glimmer of hope has emerged.
A grassroots initiative in New Jersey is working feverishly to launch the first clinical trial of a gene therapy that could provide Jack—and other affected children—a chance at survival.
Signs of Trouble
The Drurys began noticing something was amiss when Jack reached 8 months of age, as he still hadn’t rolled over.
“He would just lie there playing, swatting at objects above him,” Kelsey explained. “His cognitive abilities were apparent—he would laugh and engage eye contact.”
At first, concerns were brushed aside since Jack was born prematurely, and it is common for preemies to take longer to reach developmental milestones.
“He was progressing well with his fine motor skills and babbling,” Kelsey said. “But then we gradually realized he was falling further and further behind.”
The Drurys sought help for Jack through feeding, physical, and occupational therapies starting at 10 months, yet no clear explanation was provided for his delays.
“Not only were we left in the dark, but the neurologist who shared the genetic results with us admitted she hadn’t encountered it before.”
Tim Drury
“We invested hours in physical therapy, returning home to work on exercises, but there was no progress whatsoever,” Kelsey lamented.
“Eventually, he just stopped crawling,” she added, opting instead for “butt scooting” to traverse their South Amboy home.
By 18 months, there was a significant regression: Jack lost the ability to bear weight on his legs.
“I used to call him ‘spaghetti man’ because whenever we tried to make him stand, his legs would buckle,” Kelsey recalled. “That’s when our worries escalated.”
Despair and Hope
The family was directed to a neurologist for genetic testing, but after the lab misplaced Jack’s samples, they endured six agonizing months of uncertainty.
“There were days filled with hope and others consumed by dark thoughts,” Tim Drury reflected.
On July 1, shortly after Jack celebrated his second birthday, they finally received the diagnosis: infantile neuroaxonal dystrophy (INAD).
INAD is an exceedingly rare genetic disorder that leads to the accumulation of fatty substances in the nerves, impairing signals and steadily causing children to lose muscle coordination, sight, speech, and mental faculties.
For a child to manifest INAD, both parents must pass on a defective copy of the PLA2G6 gene. Carrier testing is accessible, but the intricacies make it challenging due to the rarity of INAD.
Currently, there is no known cure or treatment to slow its progression. Fewer than 250 children globally are diagnosed, according to the National Organization for Rare Disorders.
The diagnosis hit them hard—such a rare illness that left even their doctors perplexed.
“Not only were we unaware, but the neurologist confessed she’d never encountered it previously,” Tim, 37, remarked.
Their pediatrician and therapists were equally baffled. However, one doctor had heard about the INADcure Foundation and guided the Drurys towards them.
“As luck would have it, the only foundation pursuing a possible treatment—and striving for a cure—happens to be based right here in New Jersey,” Tim noted.
For years, this nonprofit has collaborated with researchers to formulate a gene therapy aimed at delivering a healthy copy of the PLA2G6 gene—the one impacted by INAD—to cells in need.
“Our goal is to tackle the root cause of INAD, with the intention of slowing or halting the disease’s progression,” Leena Panwala, the foundation’s founder and president, stated.
When the Drurys first connected with the foundation, preclinical trials on mice were yielding promising outcomes.
“The treated mice exhibited longer lifespans and improved motor functions compared to those that did not receive the therapy,” noted Dr. Darius Adams, a clinical and biochemical geneticist on the foundation’s Scientific Medical Advisory Board.
The nonprofit has secured a partnership with a pharmaceutical company to produce the treatment, and Adams expressed “cautious optimism.”
Confronting Challenges
A significant challenge lay ahead: The foundation needed $450,000 to pay the manufacturer before the gene therapy could be implemented.
The Drurys channeled their feelings into action.
They initiated Jack’s Miracle Mission, sharing their family’s journey through a heartfelt video online. Kelsey anticipated modest contributions, but was met with overwhelming support.
“It took just six days to raise the $450,000,” Tim reported.
What began with support from family and friends grew into a wave of community backing, including celebrity endorsements from “Real Housewives of New Jersey” star Danielle Cabral and Nicole “Snooki” Polizzi from “Jersey Shore.”
The INADcure Foundation is currently awaiting FDA approval to commence the clinical trial, with enrollment set to initiate once they receive the go-ahead.
“They aim to start this early next year,” Tim mentioned.
However, with only 10 spots available, there’s no guarantee Jack will be selected.
“Jack is among the younger candidates known globally, so there’s definitely a possibility he’ll be included in this trial,” Tim shared.
The estimated cost of treatment per child is approximately $200,000. Jack’s Miracle Mission is targeting $2 million to ensure the complete funding of the trial.
“Knowing that this is a degenerative disease, for children like Jack, they will lose skills that they will never regain,” Tim emphasized, adding that Jack has stopped scooting and is now finding it difficult to hold his bottle and feed himself.
“We require therapy for Jack to commence as soon as possible,” Tim noted urgently.
While the treatment does not promise a cure, it could extend the time children have as the search for one continues.
“Slowing disease progression could enable children to retain their abilities longer, decrease complications, and enhance their quality of life—outcomes that are profoundly significant for families,” stated Panwala, whose daughter is also affected by INAD.
Finding Joy in Uncertainty
As they await news about Jack’s enrollment in the trial, the Drurys have turned their attention to making every moment with their son special.
“We all have a limited time, and while Jack’s may be shorter than most, I want to fill his days with as much love and joy as possible,” Tim expressed.
For Jack, that means endless playtime with “Baby Shark,” spontaneous dance sessions, watching Ms. Rachel on TV, and laughing so hard that it leaves him with hiccups.
For Kelsey and Tim, the essence lies in every smile, every hug, and in the vast outpouring of love from compassionate strangers who have come forward to support their little boy.
“It’s easy to get caught up in the negative headlines about hardships and the darker side of humanity, but we’ve witnessed the remarkable kindness people are capable of,” Tim remarked.
