Aug 12, 2014
09:43 AMHealth & Science
Connecticut Family Wins Award Amid Battle With Rare Genetic Disorder
When Anne Metcalf and her husband walked into Bill’s Seafood of Westbrook two summers ago with their son Andrew, they had no idea their lives were about to change, markedly.
The family, which was driving from Manhattan to Cape Cod, saw some leaflets about CDKL5, the rare genetic mutation that afflicts 6-year-old Avery Leopoldino, the daughter of Bill’s manager Mark Leopoldino, subjecting her to daily and nightly seizures and robbing her ability to walk, talk and use her hands.
The Metcalfs had spent 10 years visiting virtually every major medical center, searching for an answer as to what was wrong with their son.
(Below right, Leah Wysock with Avery Leopoldino and Mara Kelley, who contributed her birthday money to Team Avery.)
“If they hadn’t gotten that information, they’d probably still be looking for a diagnosis,” said Leopoldino who, last weekend in Washington, D.C., accepted an award at the national Family Conference for Rett Syndrome & CDKL5 for outstanding fundraising and awareness on behalf of Team Avery, a charity established by the Community Foundation of Middlesex County (CFMC) to raise awareness and afford research funds for the disease.
“They’d probably still be enduring the uncertainty.”
It’s likely that sixth-grader Leah Wysocki of Old Saybrook didn’t know about Andrew Metcalf and his family when she donated her Christmas money to Avery’s Fund last year.
“I already have everything I need,” she wrote in a letter to the CFMC. “I wanted to help reasearch [sic] for CDKL5.”
It’s equally probable that the classmate who inspired Leah, Mara Kelley, offering her birthday money to Avery’s Fund, wasn’t aware that a disease so rare that it afflicts only 400 children worldwide — so rare that it has yet to be commonly identified by a proper name — has little chance of getting research funding, shifting the burden to families already overwhelmed with the 24-hour care it requires.
How much Leah and Mara, as well as the Old Saybrook Boy Scout troop that organized a can and bottle deposit fundraiser for Avery’s Fund, knew about those suffering from CDKL5 or rare diseases in general doesn’t matter, according to Leopoldino.
Like the students at Haddam-Killingworth High School who lifted their voices in song at their holiday concert and then held a telethon, raising more than $25,000 for CDKL5 research and awareness; like the hundreds of motorcyclists revving up their engines in the Avery Rose Hope – Love – Cure Ride the past two Junes, “They saw a need, they wanted to help, wanted to improve the lives of others,” he said.