Money for research, hope for a cure: Race honors Eliza O’Neill and Sanfilippo kids

When Rachel Hickey moved from Chicago to Columbia, she finally connected with the family whose story had captivated her in a YouTube video and, in part, inspired her future career.

Hickey, a 24-year-old graduate student of genetic counseling at the University of South Carolina, had been one of the hundreds of thousands of people around the world who watched Eliza O’Neill’s story shortly after she was diagnosed with Sanfilippo syndrome in 2013.

On Saturday, Hickey and some of her genetic counseling peers joined dozens of others at a 5K race fundraiser to increase awareness of the rare, degenerative disease and raise money for research into an effective treatment or cure.

“There’s a lot of hope for a cure,” Hickey said.

Seven-year-old Eliza was diagnosed with Sanfilippo about four years ago. The disease causes a toxic material to build up in children’s brains, leading to severe disability. It’s described as the equivalent of a childhood Alzheimer’s disease.

By around age 6, most children with Sanfilippo have irreversible damage and lose the ability to speak. Most don’t live to see adulthood.

In three years, the Cure Sanfilippo Foundation, founded by the O’Neills, has raised about $4 million to go toward research and treatment of Sanfilippo.

“At the same time, $4 million, in the world of (research and drug development) doesn’t get you very far,” Glenn O’Neill said. “We, literally, fight for every dollar we can get, and every dollar we can get is incredibly important.”

Last May, Eliza became the first of several children to receive an experimental gene therapy treatment her family hopes will slow the progression of the disease.

“They’re not only looking for a cure for their own daughter, but for all kids with Sanfilippo,” Hickey said. “I think that’s something that sets them apart. It’s not just tunnel vision for them. They’re really doing it for all people that are affected with it.”

That includes people like Rowan Fernandez, a 5-year-old with spunky purple hair, and Keira Esposito, a smiley 7-year-old who greeted Rowan with a hug at the race. Theirs were among the Sanfilippo families that joined the O’Neills Saturday.

Besides their hope of finding a cure, they all came with another common cause: Telling their stories to raise awareness about Sanfilippo.

“Unless we increase awareness, physicians don’t know what to look for in their diagnosis,” said Dr. Debbie Greenhouse, a Columbia pediatrician who attended the race. “Until more people know about it, there will be absolutely no way to know how many kids have it.”

This story was originally published March 25, 2017 at 9:37 PM with the headline "Money for research, hope for a cure: Race honors Eliza O’Neill and Sanfilippo kids."