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.
DiChiacchio told KVUE she believes the reason is because it is not financially beneficial for pharmaceutical companies.
Because of that, the DiChiacchio family is throwing all their efforts into raising money for the Cure Sanfilippo Foundation, which aims to raise enough for clinical trials that can ultimately find treatments and a cure.
Knowing the hardship of the situation, DiChiacchio has in mind other families going through the same thing.
“This is not just for Connor,” she said.
She realizes should a clinical trial be funded, that doesn’t guarantee Connor would be accepted, but she continues her fight anyway.
Because of his cognitive impairments, Connor isn’t aware of the nature of his syndrome, but his mom said he continues to have a “heart of gold.”
Watch Connor’s story below.