A family is fighting to save their eldest son’s life after the 12-year-old was diagnosed with a rare, fatal syndrome likened to Alzheimer’s.
Connor Dobbyn, who lives in Pennsylvania with mum Marisa DiChiacchio and dad Mike Dobbyn, was diagnosed with Sanfilippo Syndrome Type 3C in April 2019 after his family noticed continuing issues with his speech development.
The parents, who also have a younger son, are now rallying around him to raise US$3 million for a clinical trial that could save his life.
They began becoming concerned about Connor a few years ago when they noticed he was falling behind in school, according to a GoFundMe created in their son’s name.
At the time he was diagnosed with autism, but there was no clue of “the devastation that lay ahead”.
Connor has been undergoing speech therapy sessions since he was 18 months old but has never progressed more than a two to three-year-old, Mike and Marisa told Yahoo News Australia.
“When Connor was diagnosed in April of 2019, what always had been and continues to be the most evident is his speech,” they said via email, adding he “speaks at a very rapid rate and it is difficult to understand” sometimes.
However, the 12-year-old will tragically lose his speech, and stop being able to walk or feed himself as the deadly disease progresses.
Sanfilippo Syndrome Type C is a genetic degenerative brain disorder in children caused by a single missing enzyme. It has been likened to Alzheimer’s, but in kids.
“Because Connor lacks this single enzyme, toxic storage material is building up in his brain every second and damaging it,” the family said in the fundraiser for the clinical trial.
“As the degeneration rapidly progresses, Connor will stop walking, stop talking, stop being able to feed himself.
“He’ll develop movement disorders and seizures, suffer severe dementia, endure a lot of pain and suffering, and then he’ll die. All in the coming years.”
Mike and Marisa told Yahoo News Australia there was “no real tipping point” with the “100% fatal” syndrome.
“The degeneration is happening in his brain, and body, every second. It just gets worse and worse every day,” the parents said.
“As his parents, this is just devastating to think about,” they said, calling it “the worst disease you’ve ever heard of”.
With no US Food and Drug Administration-approved treatment or cure, Connor’s family have taken on the task of raising US$3 million in funding for Cure Sanfilippo Foundation, to conduct the first-ever gene therapy trial for the syndrome.
It is not a guarantee that Connor will be accepted into the trial, but Mike and Marisa said “it’s his only chance” and will give so many other children a chance at life.
Since starting the campaign in July, they have raised more than US$170,000, but are still a long way off their target and are racing against the clock, they said.
“For many rare diseases there is not a great deal of interest from large pharmaceutical companies because they don't see there being a future financial return for their business model,” the pair said.
“For a disease like Sanfilippo Type C, it is up to the parents and nonprofit groups to move the needle forward for research and clinical trials.
“It is up to us to make this a reality. What parent wouldn't do anything they can to save their child?”
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