A Massachusetts couple is in a race against time to try and raise money to save their 13-month-old son who has a rare and fatal disease.
Purnell “Nell” Sabky was diagnosed on May 12 with Niemann-Pick Type A disease — sometimes referred to as “childhood Alzheimer’s” — the worst form of a lysosomal storage disease that affects metabolism and is caused by genetic mutations.
For now, his life expectancy is 2 to 3 years, but his parents, Sam and Taylor Sabky, are doing everything in their power to prolong their son’s life for as long as possible.
“We’re foot on the pedal,” Sam, 29, of Roslindale, Massachusetts, tells PEOPLE. “Time is of the essence.”
After the devoted parents received the devastating news, they went from feeling “hopeless” to motivated after being told there was a gene therapy treatment for Niemann-Pick patients that might save his life.
Their goal is $750,000, which will go to the Wylder Nation Foundation, a non-profit founded by the family of a boy who died from the disease in 2009. They’re working with the University of California San Francisco’s Bankiewicz Laboratory to create the therapy.
“It might work out, it might not, but we’re going to give it a shot,” he says. “If it doesn’t work we’ll still have moved the ball forward. The treatment then might be available for the next Type A baby. That’s the silver lining in all of this.”
Nell’s condition is sometimes referred to as “childhood Alzheimer’s” because of the neurological effects it has on the brain.
“He will become distant, lose his smile and his laugh,” Sam says. “That will be the toughest part.”
The decline typically begins between 15 and 18 months old, so the family is trying to raise funds by the end of June through their GoFundMe account. So far, over $260,000 has been donated.
“We’re motivated and inspired from the response we’ve gotten,” he says. “It was initially friends and family and now it’s all strangers.”
While they can’t help but think of his future, for now, they only see a smiling, happy baby.
“From the start he was just the sweetest cuddle bug,” Sam says. “He’s so loving and affectionate, but who knows where we’ll be in a month.”