A Massachusetts couple is in a race against time to save their 13-month-old son from an extremely rare, fatal disease often referred to as “childhood Alzheimer’s.”
Last month, Purnell “Nell” Sabky was diagnosed with the genetic disorder Niemann-Pick Type A, and doctors told his parents that, without intervention, he likely would not live to see his third birthday.
Niemann-Pick Type A is caused by a lack of a specific enzyme, and the disorder prevents the body from metabolizing fat, which leads fat to accumulate around the organs. Patients typically develop an enlarged liver and spleen by 3 months old, and fail to gain weight and grow normally. At around age 1, patients with the disease usually begin to experience a progressive loss of mental abilities and movement, according to the U.S. National Library of Medicine.
“In addition to the complications of his body, he’ll start to grow distant from us,” Sam Sabky, Nell’s father, told Boston 25. “He won’t be able to smile, he won’t be able to laugh, and that’s really the hardest part to deal with.”
With no treatment or cure available, the Sabkys’ doctor told Sam and his wife, Taylor Sabky, that a genetic therapy was on the horizon but that a lack of funding was preventing it from moving forward. They are now racing to raise $750,000 by the end of June with the hopes of treating Nell before his disease progresses much more.
“You think of all the things that your child has ahead of him, and then you hear something like this, and it cuts short all those dreams and wishes,” Taylor told Boston 25. “We want him to have a future, to grow up, to do the small things like saying ‘mama’ and ‘dada,’ to do more long-term things. You think about him getting married, you know, what he’s going to do for a career.”
The money raised will go to the Wylder Nation Foundation, which is working with researchers at the University of California San Francisco’s Bankiewicz Laboratory to make the treatment available to patients, Boston 25 reported. While Nell would be the first patient to enroll in trials, the family is aware of how delicate the timeline is.
“We can dictate this timeline on our terms and try to give him a shot at life,” Sam told Boston 25. “And at the very worst, we can take comfort at the fact that we move the ball forward for maybe the next kid or the kid after that. And that’s a legacy we’d be really proud that Purnell left on the world.”
As of Thursday, the family’s GoFundMe page had received more than $191,000 in donations.