On May Mother's Day, 1-year-old Purnell "Nell" Sabky was diagnosed with Niemann-Pick Type A disease. Often referred to as "childhood Alzheimer's", Niemann-Pick Type A is the most severe form of a lysosomal storage disease that affects how infants metabolize fat. Beginning at 15-18 months, the excess fat starts to build up in cells, major organs and around the brain, which causes rapid neurodegeneration.12th, the day before
"When you look at him now, he smiles at you, he is studying everything and learning about the world. Part of you wonders if it is really possible that he is sick and the other part wonders when are you going to start losing your child," anguished Taylor Sabky, Nell's mother and a public school teacher in Boston.
Based on similar cases, Nell's life expectancy is 2 to 3 years; he just celebrated his 14-month birthday on June 23rd. But Sam and Taylor, both former Division I athletes, are not ready to give up hope yet. After receiving the shattering diagnoses, they began researching their options and discovered that there was a gene therapy treatment on the horizon that had the potential to save Nell's life.
For the Sabkys, "knowing that there is an option within reach has given us so much hope. It might work out, it might not, but we're going to give it a shot," Sam says. "If it doesn't work we'll still have moved the ball forward. The treatment then might be available for the next Type A baby. That's the silver lining in all of this."
Adequate funding is the one bottleneck that is preventing the treatment from coming to market and giving Nell a fighting chance. The Sabkys are in the race of their life to raise the funds in time to save their young son. Their goal of $750,000 will go to the Wylder Nation Foundation, a non-profit founded by the family of a boy who passed away from the disease in 2009. Wylder is partnering with the University of California San Francisco's Bankiewicz Laboratory to create the therapy.
In less than a month, the Sabkys have raised almost $600,000 in both online donations via their GoFundMe page and from fundraising events in the Boston area. The over 7,000 individual donors are as close as next-door neighbors and well-wishers as far away as Australia. Of the overwhelming public response, Sam is emphatic: "All of [our donors and supporters] have made us so hopeful, inspired, motivated and grateful. Their generosity has humbled us and moved us to tears. We have taken great comfort in the fact that whether it works out for Purnell or not, the treatment will be there for future babies with this terrible disease. Our collective efforts will achieve the most meaningful thing one can achieve in this world: we can save lives."