Boy With Alzheimer’s-like Illness Races For Time
By Dennis Thompson HealthDay Reporter
MONDAY, November 2, 2020 (HealthDay News) – Connor Dobbyn is an energetic and loving 12-year-old, but he’s disappearing every second.
Connor has Sanfilippo syndrome, a genetic disorder of the brain in children that experts liken to Alzheimer’s disease.
The boy has already lost some of what he learned during his short stay on Earth, and every day he loses a little more.
“We’re on probation. They aren’t living to their teenage years,” said his mother, Marisa DiChiacchio, who lives with Connor in West Chester, Pennsylvania. “We have six years at most.”
Here’s the good news: Researchers believe they’ve found a cure for Connor’s type of Sanfilippo, a therapy that replaces the bad gene in his body with a healthy working version.
But they need millions of dollars in funding to test this potential cure. Connor’s parents set up a GoFundMe page with a goal of $ 3 million for a clinical trial that could save their son’s life.
“The research is over. It’s like right there, but they need the money to fund the clinical trial,” DiChiacchio explained.
Children with Sanfilippo syndrome suffer from the build-up of a long-chain sugar molecule called heparan sulfate, which is normally used by the body to build cartilage, connective tissue, nerve tissue and skin, according to the Nemours Foundation.
These children have a defect in one of the genes that produce the enzymes needed to break down heparan sulfate. Without these enzymes, heparan sulfate “builds up all over the body and brain,” explained Cara O’Neill, scientific director and co-founder of the Cure Sanfilippo Foundation.
As the substance clogs the brain and body, children begin to experience the type of mental and physical decline associated with dementia in older people. Children lose the knowledge and skills they have learned, develop seizures, suffer from hearing and vision loss, have difficulty walking and moving, and even have difficulty chewing and swallowing. food, O’Neill said.
“These children are becoming non-verbal. They lose their ability to walk and speak. They are in wheelchairs and strollers. Almost all of them develop seizures and various movement disorders,” said DiChiacchio. “There is literally no cure at this point. These children are dying.”
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