Family fighting to save son diagnosed with rare disease

A Boston couple whose 13-month-old son has an extremely rare, fatal disease is raising money to make their child the first to be cured of it.

Purnell “Nell” Sabky has Niemann-Pick Type A disease, for which there is currently no treatment. If nothing is done, doctors do not expect Nell will make it to his third birthday.

“Every test that was done at every juncture, this was mentioned, but we always thought it was something that they had to check,” Nell’s mother, Taylor Sabky told Boston 25 News from the family’s Roslindale home Monday. “We never really thought that it was going to be something he would have. It’s just so rare.”

At any one time, about five to ten children in the United States have the disease. Niemann-Pick Type A, which some call “Baby Alzheimer’s”, is caused by a genetic mutation that prevents the body from metabolizing fat, leading to build-up around the organs, including the brain.

RELATED: Learn more about Niemann-Pick disease

“In addition to the complications of his body, he’ll start to grow distant from us,” Nell’s father, Sam Sabky, said of his happy, curious son. “He won’t be able to smile, he won’t be able to laugh, and that’s really the hardest part to deal with.”

“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 said of the diagnosis she received just before Mother’s Day. “We want him to have a future, to grow up, to do the small things like saying ‘mama’ and ‘dada’, to more long-term things. You think about him getting married, you know, what he’s going to do for a career.”

Because decline typically begins between 15 and 18 months old, the Sabkys are rapidly raising money through a GoFundMe account, hoping they meet their goal of $750,000 before it's too late.

The funds will go to the Wylder Nation Foundation, a non-profit founded by the family of a boy died of the disease in 2009. The foundation is working with researchers at the University of California San Francisco’s Bankiewicz Laboratory to make gene therapy a reality for Niemann-Pick patients.

“When we left the doctor’s office, they said that this (treatment) is on the horizon, but that it wasn’t within reach,” Sam said. “And then, when we connected with the Wylder Nation Foundation and got on a conference call with the researchers that are developing the treatment, they said they have really promising data, and they think they may even have a cure, and that the sole roadblock for moving things forward is funding.”

If funded, researchers will build the clinical-grade vector that delivers the treatment, Sam explained. Then, the team must finish safety studies and work to gain Federal Drug Administration approval for the investigational drug, before the clinical trial can begin.

Nell would be the first child in the world to receive the treatment. His parents explained, “time is of the essence.”

By Monday night, the Sabkys had raised more than $90,000 on their GoFundMe account with donations from family, friends and complete strangers.

“It restores your faith in humanity and renews our hope that we can do this, and that we have to do this,” Taylor said.

As the family works relentlessly to share their story, they cherish each moment with Nell, taking trips with him and making happy memories.

“We can dictate this timeline on our terms and try to give him a shot at life,” Sam said. “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.”

To donate to #SavePurnell, click here.

Cox Media Group