During a visit to the doctor for chronic pancreatitis in 2016, the gastroenterologist suggested to Jennifer Sarkar that she take her son, Carter, to see a geneticist because he was not yet potty-trained. "After 30 seconds [the geneticist] looked at him and said, 'He might have Sanfilippo syndrome,'" Sarkar recalls to ABC News. Children with the syndrome, sometimes called "childhood Alzheimer's," have similar facial features and Carter, now 6, was ultimately diagnosed with the terminal disease. His parents have launched a campaign to raise $1 million in one month for Sanfilippo research in an effort to save their son, whose life expectancy currently only reaches into his teens. There is no cure for the neurodegenerative disease, which affects about 1 in 70,000 children, eventually leaving them unable to walk, talk, or swallow.
Carter is "very playful," "sporty and outgoing," his mom says, but he has already begun to have trouble walking and is losing some language skills and memory. "We'll be at our favorite place and he will be so scared and frightened," she says. "He's crying because he doesn't know how we got there. He starts to cry, I start to cry." Children with Sanfilippo are deficient in an enzyme that breaks down normal byproducts of cell metabolism, so the waste instead builds up, damaging cells—especially brain cells. The family's campaign is raising funds for the Cure Sanfilippo Foundation to help it fund a clinical trial involving enzyme replacement therapy "that has had remarkable results of helping fix the brain in closely related diseases," Jennifer writes on the campaign page. It has raised more than $600,000 so far. Carter's 8-year-old sister tells Inside Edition why she hopes people will donate: "He’s fun to play with. He does amazing stuff with me. I don’t want Carter to be in the hospital that much." (Read more terminal illness stories.)