Boston family looks to find cure for baby with rare disease

BOSTON (WHDH) - A Boston family is searching for the cure to a rare disease after their young son after he was diagnosed with a rare disease.

By the time Purnell Sabky was six months old, his mother Taylor Sabky said he was not meeting some age milestones like other babies and brought him to his doctor.

Purnell was diagnosed with the rare Neiman Pick Type A, which is often referred to as “Baby Alzheimer’s.” This disease means he has a mutation on a gene dealing with how the body handled fat. His body is building up fat around his organs before reaching his brain. The disease is so rare, between five and 10 babies are estimated to be alive with it in the United States at one time.

Most children with Neiman Pick Type A are only given between a few months and a few years to live. Purnell is not expected to live past three years old.

“The worst news you can get is that your child is dying and there’s nothing you can about it,” said Sabky. “It is a place of utter helplessness.”

The Sabky family is hoping to raise money for gene therapy to be created and tested. They are hoping to raise $750,000 to make it happen.

“As parents, first and foremost, want to save him,” said Purnell’s father, Sam Sabky. “But at least we know the progress we make, this is progress for a cure.

Purnell’s GoFundMe: https://www.gofundme.com/SavePurnellToday

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