Two-year-old defies odds, now battles rare neurodegenerative disorder INAD

A two-year-old from New Jersey who defied survival odds after a premature birth now faces a life-threatening setback. Jack Drury was born at 33 weeks and was discharged from the hospital's NICU 17 days later. Now he has been diagnosed with infantile neuroaxonal dystrophy, a rare genetic disorder with no known cure.

A month after his second birthday, Jack's doctors confirmed the diagnosis. INAD is caused by a mutation in the PLA2G6 gene and attacks the nerve cells that relay messages from the brain to the rest of the body, leading to progressive loss of vision, motor control and cognitive skills. His mother, Kelsey Drury, says she began noticing delays around eight months, and physical therapy yielded little progress. By about 18 months, he could not walk or bear weight on his legs; relatives recalled the nickname spaghetti man because he would collapse when trying to stand.

Jack's condition follows an unusually hopeful start. Doctors in New Jersey described his early survival as a miracle, but INAD is extremely rare; fewer than 250 children worldwide have been diagnosed, according to the National Organization for Rare Disorders. The National Institutes of Health describes INAD as a degenerative disease that damages brain nerve cells and gradually robs children of their sight, movement and thinking abilities. There is no known cure or therapy to slow the disease.

That uncertainty has been hard for the family. A neurologist who delivered the genetic results told them she had not heard of INAD before, underscoring how little is understood about the disorder. The journey to this diagnosis was complicated by a lab mishap: a lab lost Jack's samples for his neurological genetic testing, delaying results for months before the diagnosis could be confirmed.

Amid the bleak prognosis, a glimmer of hope exists in a New Jersey-based nonprofit, INADcure Foundation, which has collaborated with scientists to pursue a gene-therapy approach for a potential clinical trial. The family started Jack's Miracle Mission to raise funds to cover the costs of developing the therapy and seeking FDA approval to start the trial. The foundation says a trial could begin early next year, but there are only 10 spots and Jack's place is not guaranteed.

Timing and cost pose substantial hurdles: the average treatment is expected to cost about 200,000 per child, and Jack's family hopes to raise about 2 million to cover the full cost of therapy for their son and any other participants. The foundation aims to enroll the youngest patients possible and has described Jack as one of the younger participants globally that scientists are aware of.

Tim Drury, Jack's father, says time is precious and stresses that his aim is to fill every moment with love. We all have a time that ends, he said; Jack's might be shorter than most, but I want to fill the time he does have here with as much love and joy as I can possibly provide.