What We Thought Was Autism Became an Inconceivable Diagnosis

November 12, 2020

Connor Dobbyn was diagnosed with Autism at age 5. “We thought we hit the nail on the head with this diagnosis,” said Connor’s mom Marissa. “However, it wasn’t until an annual IEP at school that they found it to be something much worse.” Connor went from having an IQ of 100 to 60 in just a couple of short years.

“What we thought was typical for Autism turned out to be a rare and fatal disease called Sanfilippo Syndrome, which is like childhood Alzheimer’s,” said Mike, Connor’s dad. “The spectrum is so broad with Autism and every child on it is so different. With Sanfilippo, every child’s fate is certain.” Connor will soon lose the ability to talk and walk. He will end up in a wheelchair, with feeding tubes, in constant pain, have memory loss, and ultimately pass away, likely in his late teen years. He’s 12 now. “No child should ever have to endure this.”

“I never imagined my child would endure this,” said Marisa. “Mike and I do not want other parents, who may only have a partial diagnosis of Autism for their child, to go through what we have gone through.” They hope that by sharing their story, other parents who might see similarities between Connor and their child will contact their doctor immediately about testing for Sanfilippo Syndrome.

“Autism may be the first diagnosis, but Sanfilippo Syndrome or another genetic disease may be the underlying reason for their Autistic behaviors,” pointed out Marisa.

Sanfilippo Syndrome currently has no cure, but Connor’s family has hope for their son and other children with the disease. Researchers think they’ve found a way to stop this with gene therapy, but millions in funding are needed to conduct a clinical trial for children.

Connor’s family is working with Cure Sanfilippo Foundation to fund the clinical trial and launched a “Save Connor” campaign at SaveConnor.com. The heart of the campaign is a 3-minute video that shares the family’s story and how people can help make this single chance at life happen for Connor. The goal is to raise the $3 million to fund the clinical trial.

“If the money is raised in time, the clinical trial will happen. We believe the clinical trial could slow down Sanfilippo Syndrome’s progression and keep Connor where he is right now. But that only happens if we raise $3 million and quickly,” said Mike.

Learn more about Marisa and Mike’s fight to Save Connor at SaveConnor.com.

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