Two years ago, an elementary school psychologist told Marisa DiChiacchio something that she describes, to this day, as “crazy.”
Marisa’s 9-year-old son, Connor, was, quite literally, losing his mind. A special-ed team who had thought he was autistic discovered that the child’s IQ, at 100 a few years earlier, had plunged to just 60 as a third grader.
Connor wasn’t autistic; his brain was erasing itself.
Nine months ago, Marisa and Connor’s dad, Mike Dobbyn, received an explanation in the form of a terrifying medical diagnosis: Childhood Alzheimer’s. Today, the Chester County family are sharing their story and opening their desperate arms to the world for help in saving their son.
Officially, what 11-year-old Connor Dobbyn has is Sanfilippo syndrome Type C. It is an inherited genetic disorder in which a child is lacking a necessary enzyme. It causes progressive damage to the brain and, ultimately, the body. It’s rare — but Connor’s type is the rarest: Only one in a million kids get Type C.
Most Sanfilippo-diagnosed children die before adulthood. Their brains are slowly destroyed, forcing their bodies into withered states, too.
To confront this enemy, Marisa and Mike are managing to do what many divorced couples would find emotionally inconceivable: They are setting aside their differences to march arm-in-arm on a rescue mission: Tell the world about their boy, find the scientists and other Sanfilippo parents dealing with this terrible disease, raise as much money as possible for clinical trials, and try to save some kids — starting with their own son.
“Everything that Connor has learned — walking, talking, writing, feeding himself — he will lose all those skills,” Marisa, 43, a human resources recruiter, explained through sobs from her Glenmoore home. The Lansdowne native and Archbishop Prendergast/St. Joseph’s University graduate has a commanding cadence and a brightness to the way she speaks. But emotion overtook her more than once in our first of several conversations earlier this month.
“I can’t even believe there is something out there like this," she said. “And I had never heard of it. No one I know has ever heard of this. It’s so devastating.”
For years, Connor’s parents had struggled to figure out why he had speech, social, and motor-skill deficits. Doctors were stumped. They had him repeat kindergarten. A support team at the Owen J. Roberts School District, meanwhile, theorized he was maybe autistic and did what they could.
If not for the district’s IQ test two years ago, there would have been no trigger for the genetic tests that, by last April, revealed Sanfilippo.
Marisa and Mike went home in a state of shock after hearing the diagnosis. They kept mostly quiet about it until school resumed this past fall. They are now going very public to help raise $1 million toward the $5 million needed to launch a clinical trial for the gene replacement treatment that is Connor’s only hope.
With any luck, a blast of the corrected gene into Connor’s system might stall the disease and keep his cognitive function at its current level: He’s a smiley fifth grader who plays with rubber duckies and watches the toddler TV favorite Paw Patrol, even while classmates are mastering video games like Fortnite. This is what his parents are working toward.
“As a family, we’re just on a mission since we got this diagnosis," said Mike, 42, a Massachusetts native who is a financial adviser with Merrill Lynch in Wayne. “This is potentially a cure.”
So far, through mostly word-of-mouth, they have raised in the ballpark of $100,000. They also allowed documentary filmmakers from the Cure Sanfilippo Foundation to spend a week with the family earlier this month. They’re hoping the video goes viral once blasted out on social media a few months from now. It forced them all to talk candidly in front of their boys about Connor’s bleak life expectancy — something Connor himself does not, thankfully, appear to grasp.
“He’s so innocent and pure and loving and kind,” Marisa said. “I don’t think he knows.”
Keenan, 9, however, has struggled with the knowledge.
“Cure Sanfilippo!” the fourth grader shrieked as he approached me the other night. “The one that I want the most is Connor!”
The family are directing donors to www.fightforconnor.com, which connects to the Cure Sanfilippo Foundation. That South Carolina-based nonprofit is harnessing fund-raising efforts for treatments and is led, coincidentally, by a Sanfilippo dad who was born in Upper Darby.
Glenn O’Neill is his name. He has a 10-year-old daughter, Eliza, with a less rare form of Sanfilippo than Connor. Seven years after her diagnosis, however, Eliza has lost many of the abilities she once had.
“You’d begin to get to meet your daughter’s personality and get to know them, and then very quickly everything gets taken away,” said Glenn, 47, whose pediatrician wife also helps lead the foundation. “My daughter used to sing `Twinkle, Twinkle, Little Star’ — the entire song. Then it became ‘Twinkle Twinkle.’ Then it became ‘Twinkle.’ Then the letter T. Then nothing. That all happened in a matter of six months to a year.”
“It’s an awful disease,” Rebecca Ahrens-Nicklas, a genetics specialist at Children’s Hospital of Philadelphia, told me.
The future for kids, in the absence of an approved treatment, is bleak.
“Feeding tubes, wheelchairs, seizures, and death,” O’Neill said. "Every child. It shouldn’t be that way. Money is standing in the way of our ability to help these children.”
Connor’s favorite color is blue. He inhales goldfish crackers like any 90-pound fifth grader sprawled on the couch watching TV. But he can’t lather his own hair with shampoo. His speech is muffled. Even wiping himself after a bathroom visit is a thing of the past.
Still, says his mom: “He’s a lovebug.” A kid who demands snuggles as soon as he gets home from school. A mischief-maker. A beloved friend to his crew of loyal mates at school.
A child who deserves a chance.