Jennifer and Samir Sarkar fear they won't hear their son, Carter, say their names again. They're afraid their 6-year-old will stumble and rely on a wheelchair when his legs won't bear his weight anymore. And the most terrifying is the thought that they might not have him in their lives any longer.
These are all devastating realities the Los Angeles family is fighting against. When Carter was diagnosed with Sanfilippo syndrome, also called "Childhood Alzheimer's," in 2016, his parents were heartbroken.
"You hear about the symptoms and what will happen to your child, and time just stopped. We knew we were now in a race against time," Jen and Samir told Mom.me via email.
Sanfilippo syndrome is a rare metabolic disorder that causes fatal brain damage. The genetic condition is caused by an enzyme deficiency that clogs the cells and leads to cellular malfunction throughout the body, but especially the brain. According to the Cure Sanfilippo Foundation, as the brain gets more damaged, children might experience speech problems, developmental delays, challenging behaviors, extreme hyperactivity, poor sleep, heart problems, seizures and loss of mobility. They undergo progressive dementia like people with Alzheimer's. One in 70,000 children are born with the condition with a typical life expectancy of about 15 years — with Carter's type (Type A) being the most severe and common.
The Sarkars, who also have an 8-year-old daughter, Sophia (not affected by Sanfilippo), were first worried when they noticed that Carter wasn't hitting his 12-month milestones. His doctors thought Carter was a little bit behind but weren't too concerned at first. That's because children appear healthy at birth, and the early symptoms are often mild developmental delays. The disease is also hard to predict because its progression varies from child to child.
Right now, Carter is still talking, and able to walk and eat on his own. But Jen and Samir said they've started to see him fall more often and noticed that their son can get confused at times as to how or when he got somewhere. He's also forgetting the names of things he once knew, and his attention is a bit more scattered.
"Sanfilippo syndrome is a parent's worst nightmare. This disease is one that we had never even heard of before and never knew even existed. It is truly a race against time to save your child," Jen and Samir said. "No parent should ever have to watch their child suffer in pain and agony, which is why we are determined to change Carter’s fate. Our goal is to one day instead of having a doctor say, 'I'm sorry, there's nothing we can do for them,' to say, 'I'm sorry, but know that we have a cure!'"
Hoping to help fight the disease, the Sarkars have set up a GoFundMe page with a $1 million goal in hopes of getting a trial up and running to give Carter a chance at life. With rare diseases like Sanfilippo, parents are often left to drive and fund the research for treatments and a cure. All of the funds will go to the Cure Sanfilippo Foundation, which is funding a trial and research on novel enzyme replacement therapy.
While the condition has devastated them on so many levels, the Sarkars said that it has also affected their family in another major way.
"It has made our family closer," they said, adding that they're now more "aware of how valuable and precious little moments and making memories are."