Taylor and Sam Sabky are just like any other new parents. They adore their 13-month-old son, Purnell. The only difference is that they are desperate to save their precious child from a cruel disease that very little is even known about.
"Purnell is the sweetest, most gentle boy," Sam Sabky told Parents.com in an email. "He loves to cuddle, he loves to study things, and he loves to laugh—his smile just melts hearts." He adds, "If you look at Purnell, you would not think he was dying. He is smiley, interactive, playful, and just overall happy."
Purnell has been diagnosed with Niemann-Pick Type A (also known as "Baby Alzheimer's"), a rare and fatal genetic disease that prevents his little body from properly metabolizing fat. Instead, it builds up in his cells, and will eventually cause his body to shut down. "The saddest part is that the disease is rapidly neurodegenerative, which means Purnell will soon grow distant from us and lose his warm smile and laugh. That's the most heartbreaking part."
Right now, specialists believe Purnell is in the plateau phase, which as Sabky explains, "is the period of time he stops progressing before beginning to decline. We are doing everything in our power, with therapy and diet, to delay that onset. No matter the outcome, we will cherish every moment we have with our Purnell."
"There is currently no available treatment and if nothing is done, it is unlikely Purnell will make it to his third birthday," Sabky told us.
As a soon-to-be mom of four, my heart breaks for this adorable family. Especially since it must be so frustrating not to have the answers you so desperately need.
As Sabky says, "There's no bigger feeling of helplessness than thinking you can't do anything to save your child." He adds, "At any one time, there are an estimated 5-10 Type A babies alive in the U.S. Rare disease treatments are grossly underfunded, but there is a promising gene therapy treatment being developed at the Bankiewicz Lab at UCSF, which would replace Purnell's mutated gene —the root cause of the issues—with a functioning one, so that his body can produce the enzyme it needs to metabolize the fat in his brain."
The Sabkys hope to raise enough money to help fund the treatment that can save all future babies affected by this devastating disease. And for them, this is the most meaningful thing that can come out of their painful ordeal.
But time could be running out for the Sabkys' sweet little boy. "Because Purnell's disease is degenerative, with the decline beginning as soon as two months from now, time is of the utmost essence to raise the money needed and give Purnell a chance at treatment," his dad says. He urges anyone who wants to help to visit GoFundMe to donate and says, "No amount is too small!"
More than $330,000 of the family's $750,000 goal has been raised so far on GoFundMe, at time of writing. "People we've never met [are] going above and beyond, not just with donations, but with sharing our story, sending in leads, and reaching out with positive, uplifting messages. We are truly inspired and grateful," Sabky tells us.
"We went from hopeless to hopeful," this inspiring father says, adding, "That feeling has grown by leaps and bounds thanks to [the] response of everyone. We're getting closer every day, and feeling more and more inspired by the heart-warming and overwhelming love and support pouring in. It's what keeps us going."
Follow Purnell's story with the hashtag #SavePurnell.