Jack Dolly emerged from the hospital a bit unsteady.
Arriving at just 33 weeks, this premature baby surprised doctors by breathing on his own and was able to leave the NICU just 17 days later.
“They assured us he was fine,” shared Kelsey Drury, Jack’s mom.
For a bit, he was fine.
However, as time passed, Jack ceased to reach certain milestones. The initial happiness transformed into anxiety.
Then came the heartbreaking diagnosis: Jack had a rare terminal illness and, tragically, most children with it don’t live to see their 10th birthdays.
“I found myself envisioning planning his funeral,” Kelsey recalled, reflecting on the day they received the diagnosis.
Yet now, amidst the turmoil, there is a glimmer of hope.
In New Jersey, local organizations are gearing up to initiate the first clinical trial for a gene therapy that could potentially benefit Jack.
Early signs and escalating worries
Kelsey first sensed something was off when, at eight months old, Jack still hadn’t managed to roll over.
“He would lay there, reaching for toys and playing,” she said. “He seemed to be there cognitively; he laughed and made eye contact.”
Initially, it was easy to overlook—after all, Jack was born two months early, and it’s common for preemies to take extra time meeting developmental milestones.
“He was on track with his babbling and athleticism,” Kelsey mentioned. “But then it became clear he was falling behind.”
By 10 months, Jack was enrolled in feeding and physical therapy, but no one could determine the cause of his delays.
“Even the neurologist, after sharing the genetic findings, admitted she had never encountered this condition,” Tim Drury, Jack’s dad, said.
Despite hours of therapy at home and at clinics, Jack showed no significant improvement.
“In the end, he couldn’t crawl,” Kelsey explained. Instead, he resorted to scooting around the house.
By 18 months, things took a turn for the worse, with Jack struggling to support his weight and unable to walk.
“I called him my ‘spaghetti guy’ because every time we tried to stand him up, his legs would give way,” Kelsey said. “That’s when our worries deepened.”
Hope and heartbreak
After being referred to a neurologist for genetic testing, the lab misplaced Jack’s sample, leaving the family in limbo for six months.
“Some days are filled with optimism, while others are dark,” Tim shared.
On July 1, shortly after Jack turned two, they finally received a diagnosis: Infant Neuroaxonal Dystrophy (INAD).
INAD is an unusual genetic disorder that causes fatty substances to accumulate in the nerves, disrupting signals and slowly eroding muscle control, vision, language, and cognitive skills.
For a child to have INAD, they need to inherit a defective PLA2G6 gene from both parents. Carrier testing exists but is quite complex since the condition is so rare.
No known treatments or interventions are available to slow its progression. Less than 250 children globally are diagnosed each year.
The diagnosis was devastating—a rare illness that left even their doctors confused.
“We were completely uninformed, and even our doctors had not heard of it,” Tim noted.
While their pediatricians and therapists were at a loss, one specialist pointed them towards the INAD Cure Foundation.
“Surprisingly, the only foundation working on possible treatments for INAD is right here in New Jersey,” Tim revealed.
For years, nonprofits have collaborated with scientists to develop gene therapy aimed at delivering healthy copies of the PLA2G6 gene to the affected cells.
“The objective is to tackle the core issues of INAD to hopefully slow or stabilize its progression,” said Lina Panwara, the foundation’s founder.
As the Drurys became involved, early trials in mice suggested promising results.
“The treated mice showed improved motor skills and longer lifespans than those who weren’t treated,” Dr. Darius Adams, a geneticist with the foundation, explained.
The foundation has inked a contract with a pharmaceutical company, and a cautious sense of optimism surrounds the production of the treatment.
Confronting the unknown
A significant challenge remains. The foundation requires $450,000 to fund the manufacturing of the gene therapy.
The Drurys have shared their journey online.
They launched “Jack’s Miracle Mission” to narrate their story via heartfelt videos. Kelsey had anticipated small donations, not a flood.
“It only took me six days to bridge the $450,000 gap,” Tim recalled with astonishment.
What began with support from friends and family morphed into a community-driven effort, gathering contributions from celebrities like reality TV star Danielle Cabral and Nicole “Snooki” Polizzi.
The INAD Cure Foundation is now waiting for FDA approval to start clinical trials, expecting to begin the registration process soon.
“We aim to kick things off early next year,” Tim stated.
However, with only ten spots available in the trial, Jack’s participation is uncertain.
“Jack is among the youngest candidates, which indeed gives him a chance to join the study,” Tim said hopefully.
The cost of treatment is around $200,000 per child, and “Jack’s Miracle Mission” is aiming to raise $2 million for the full trial.
“For children like Jack, it’s crucial because this is a degenerative disease where they lose capabilities and don’t regain them,” Tim emphasized.
“Immediate treatment is essential,” he added.
While treatment won’t cure him, it may help extend the time Jack has, albeit briefly.
“Slowing down the disease’s progression could improve his quality of life,” said Panwara, a mother herself.
Finding joy amid uncertainty
As Jack waits to know if he will secure a trial spot, the family focuses on making the most of their time together.
“We have no definitive end time,” Tim reflected. “Though Jack’s time may be limited, I’m determined to fill it with as much love and happiness as possible.”
For Jack, that often means dancing to “Baby Shark,” having impromptu dance parties, and bursting into fits of laughter.
For Kelsey and Tim, it’s about cherishing every smile, cuddle, and the outpouring of kindness from strangers rallying behind their son.
“We see so many negative headlines nowadays, but there’s a remarkable side to humanity that persists,” Tim said.
“People are capable of showing incredible kindness.”
