An experimental treatment could be lifesaving for a 6-year-old Castaic boy with a rare genetic disorder, but unless his family is able to raise funding, that research may never get off the ground.
Carter Sarkar was diagnosed with Sanfilippo syndrome — sometimes referred to as childhood Alzheimer’s — which is currently considered fatal. But through the Cure Sanfilippo Foundation, his family is hoping he can participate in a potentially groundbreaking clinical trial that could also save his life.
The neurodegenerative disease is caused by an enzyme deficiency that stops patients from properly processing cellular waste. The treatment would involve an enzyme replacement therapy that Carter's parents say has shown remarkable results in treating similar conditions.
But without the experimental therapy, the deficiency will continue to cause his cells to become clogged with waste, leading him to lose cognitive skills and mobility, among a number of other complications.
"All the skills he's already acquired such as eating, swallowing, being able to remember our names, where he is — all of that's going to go away, and he'll enter an infant-like state," said Carter's mom, Jennifer Sarkar.
Currently, there are no treatments for the disorder. It primarily affects children because those diagnosed with it rarely reach adulthood.
Though Carter can still talk some and continues to run and play with his 8-year-old sister, Sophia, his parents said he's beginning to show signs of the disease.
"He looks totally confused at his favorite place and how he got there, and then he starts screaming for me to take him home," Jennifer said. "I feel so bad."
His dad, Samir, said it's an emotional experience as the family tries to enjoy the time they have with him now, before the degeneration progresses.
"The boy you see today will no longer be," he said. "I can't tell you how many times a day I cry because it's just so many different emotions."
Something as simple as seeing another child his age cross the street hand-in-hand with their mother can be devastating to Jennifer.
"I think, 'You're so lucky. You're so blessed to be able to do something like that,'" she said.
But the Sarkars are trying to stay focused on the big picture by putting their energy into getting the clinical trial off the ground.
"It's really now or never," Jennifer said. "I'm going to have to bury my son. And I'm going to have to explain to his sister that this disease took him."
The Sarkars are hoping to raise $1 million for the Cure Sanfilippo Foundation, the nonprofit that is funding the trial. As of Thursday night, they had raised about $90,000 of their goal through a GoFundMe campaign.
To learn more about Carter and how his family is working to find a cure for Sanfilippo syndrome, visit CartersChallenge.com.