Mom fights for research for rare genetic disease that mimicked autism in her son

Holding hands. (Photo by cottonbro from Pexels.)

When Connor Dobbyn was young, his parents began seeing developmental delays.

Until the boy was 10, doctors believed he had autism.

Connor’s parents tried aggressive occupational and speech therapy, but none of it seemed to help, so they took him to have genetic testing done.

When his mother, Marisa DiChiacchio, got the call from the doctor, the diagnosis Connor received was crushing.

“She might as well have been Charlie Brown’s teacher, because I wasn’t hearing a thing she was saying,” DiChiacchio said.

The doctors, according to a KVUE-TV report, told Connor’s mom he has a rare genetic condition called Sanfilippo Syndrome, a metabolism disorder that leads to serious problems in the brain and nervous system.

Ultimately, it is a fatal disease that causes Alzheimer’s-like symptoms like dementia. Patients usually die by their mid-teens.

The biggest problem, at the moment, is that there are no treatments available for Connor’s variation of the disease.


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