When Jennifer Sarkar took her then 3-year-old son, Carter, to a geneticist at the urging of a family doctor, she never expected to hear there was a chance her little boy was slowly succumbing to a rare genetic disorder.
“My heart broke,” Jennifer, 29, tells PEOPLE of the life-changing day two years ago. “To this day, I still get emotional about it.”
After testing, Carter was officially diagnosed with Sanfilippo syndrome, also known as Childhood Alzheimer’s, which is a progressive disease caused by a missing enzyme meant to recycle cellular waste. Since there is no way to dispose of it, the waste accumulates in the brain and eventually causes significant damage to the organ. Over time, this can cause loss of speech and cognitive skills, intellectual disabilities, cardiac issues, seizures, inhibited mobility and dementia, according to the Sanfilippo Children’s Foundation. The disease typically claims the lives of patients before they reach adulthood.
“You just feel horrible for your child, because no child should ever have to endure this much pain, this much suffering,” Jennifer, from Santa Clarita, California, says. “They should never know a life like this.”
According to the National MPS Society, one in 70,000 newborns is born with Sanfilippo syndrome, with symptoms often appearing after the first year of a child’s life. There is currently no known cure for the disease.