Purnell Sabky is only about two years old, but he’s already in a fight for his life. He has a rare condition called Niemann-Pick Type A, the worst type of a lysosomal storage disease that affects his metabolism. The disease, which is caused by a genetic mutation, is also known as “Childhood Alzheimer’s” because of its many similarities to Alzheimer’s disease; it causes the victim to slowly un-learn things he or she had previously been capable of doing, such as eating, grasping objects, walking, smiling, laughing, recognizing family members, and even breathing. There are fewer than 1,200 cases of this condition worldwide.
Purnell’s parents, Taylor and Sam Sabky, noticed something wasn’t quite right when their only son was about six months old. He’d been having some gastrointestinal issues, and he was not hitting the milestones he should have been, like sitting up and crawling. They were referred to a geneticist at Boston Children’s Hospital and later traveled to New York for further testing. That’s when they received what they’re calling a “death sentence” for Purnell.
Purnell was diagnosed with this horrible disease when he was a year old, 2 days before Mother’s Day of 2017. At that time, his doctors didn’t expect him to live past age 2 or 3, which is the average life expectancy for someone born with Niemann-Pick type A.
“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,” says Purnell’s mom, Taylor. “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.”
Since the diagnosis, Purnell and his family have been doing everything they can to fight for a cure before it’s too late. His family has set up fundraising initiatives to help Purnell get gene therapy treatment, which could prolong his life. In the tragic case that he doesn’t live long enough, they hope the funds will be able to help another child get the gene therapy that may be able to save their life.
For now, the family has raised enough money for scientists to develop the vector that will act as a vehicle to replace Purnell’s current malfunctioning gene with a new healthy one. Taylor and Sam are focusing on keeping Purnell as healthy and happy as possible while they wait for the treatment to be available.
While Purnell’s disease is not the same as traditional Alzheimer’s, it shares many similarities with Alzheimer’s disease, leading some to believe that finding effective treatments or a cure for one may assist researchers in developing treatments or a cure for the other. Click here to learn how you can contribute to Alzheimer’s research and care.
Click “next” below to read about Marian, a darling little girl who also has childhood Alzheimer’s.
Elizabeth Nelson is a wordsmith, an alumna of Aquinas College in Grand Rapids, a four-leaf-clover finder, and a grammar connoisseur. She has lived in west Michigan since age four but loves to travel to new (and old) places. In her free time, she. . . wait, what’s free time?