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Team Sanfilippo Foundation earns $100K award to fight rare genetic disease

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Monday, September 12, 2011

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Non-profit organization Team Sanfilippo Foundation, founded by local mother Kathy Buckley in 2009, recently earned a $100,000 prize in the Eastern regional category of the nationwide Vivint Gives Back Facebook Campaign.

“We’re very, very excited,” Buckley said Thursday. “The money will really help with research.”

The prize marks yet another step in Buckley’s fight to find a cure for the rare genetic disorder called Sanfilippo that plagues her 11-year-old son, Matthew. The syndrome belongs to a class of diseases called Mucopoly-saccharidoses that either prevent sufferers from producing an enzyme required to recycle material within cells or causes them to produce enzymes that are defective.

The result is a buildup of material in cells throughout the body, which is particularly devastating to the brain and central nervous system. Even children as young as Matthew show symptoms similar to elderly Alzheimer’s patients.

Two-thirds of the prize money will go toward an FDA drug screening, which will help advance research on specific gene therapy that, if the right activation drug is found, could potentially help patients suffering from Sanfilippo and similar diseases.

When he was diagnosed in December 2008, Matthew’s doctor told Buckley, “There’s no treatment — just take him home, you can’t do anything.”

But Buckley refused to quit.

The determined mother founded the grassroots Team Sanfilippo Foundation, which has since exploded into a worldwide effort fueled by parents with children suffering from the rare disease. With the recent $100,000 prize from Vivint, Team Sanfilippo has now raised almost $500,000 to help fund genetic research to find a cure.

Earlier this week, Buckley, president of Team Sanfilippo, along with vice president Misty Luthcke and longtime supporter Carl Kapes, was flown to Utah by Vivint to claim the latest prize.

Vivint is a home automation company that specializes in creating programs that allow homeowners to manage home security systems, turn off the lights or control a room’s temperature from their cell phone or other digital device.

In the spring, Vivint launched its $1.25 million giveback campaign to benefit charitable organizations across the United States and Canada using social media, namely Facebook, as a vehicle for fans to vote for their favorite nonprofit.

“We did the campaign — it becomes like a political campaign on Facebook,” Buckley said. “We got friends, family and supporters to vote. We had voters from Spain, Italy, Poland — all over Europe — because we have board members over there, so it was a global effort of all the parents who have children with Sanfilippo Syndrome, so we made a nice network out of it.”

With the Vivint winnings, Buckley said $75,000 will pay for the FDA screening where scientists will search the FDA drug library to look for a drug that activates a specific gene, which research proved earlier this year can break down the waste typically accumulated in patients suffering from MSP diseases.

“They’re looking for a compound that activates a certain gene that would induce your body to go into what’s called exocytosis, where it would rid itself of the garbage it’s been accumulating,” Buckley said.

Last year, Team Sanfilippo put a $250,000 Pepsi Refresh grant toward funding the research that discovered the gene’s properties. With Vivint’s money, Team Sanfilippo will again move the research forward, getting closer to a marketable product that could help treat Matthew and patients across the world.

“The parents felt awesome about winning,” Buckley said. “They felt empowered because some of them can’t even manage day-to-day with a sick child and they feel like they can do something now since they all worked together to win this money on Facebook. Some of them can’t do fundraisers because they’re too overwhelmed and for them, and all of us, we’re really excited.”

© Copyright 2011 The Saratogian

Author: By Suzanna Lourie
Source: The Saratogian
3.25
3.2 from 4 votes
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