Parents Desperately Trying to Raise $750K for Sick Son

Only a few children in the US have Niemann-Pick Type A, and all die young
By Elizabeth Armstrong Moore,  Newser Staff
Posted Jun 2, 2017 6:28 AM CDT

(Newser) – Just weeks ago, a Boston couple learned their now-13-month-old son has an extremely rare and currently untreatable genetic disease called Niemann-Pick Type A, more colloquially known as "Baby Alzheimer's." In short, the boy suffers from a lethal mutation of a gene that prevents his body from processing fat, so it builds up around his organs before reaching his brain, leading to dementia. No more than 10 babies in the US are thought to have it at any given time, and like Purnell Sabky, they're only given a few months to years to live, reports WHDH in Boston. "The worst news you can get is that your child is dying and there's nothing you can about it," his mother says. "It is a place of utter helplessness."

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Determined to save him, or at the very least help future children who receive the grim diagnosis, the Sabky family is trying to raise $750,000 to fund a gene therapy treatment that is in development. They've raised a third of that so far on GoFundMe. The funds will go to the Wylder Nation Foundation, a non-profit a family started after their boy died of the disease in 2009. The foundation is working with researchers at UC San Francisco's Bankiewicz Lab; they need to finish that development, complete safety studies, and get the green-light from the FDA to begin a clinical trial. "Time is of the essence," say Purnell's parents, and Fox 25 explains why: The declines typically start between 15 and 18 months, and doctors say it's unlikely Purnell will see his 3rd birthday. (This toddler's family is helping raise money for research, too.)

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