Family Known as Face of Sanfilippo Syndrome Keeps Working for a Cure

They had a son they adored, and now Cara and Glenn O’Neill longed for a girl. After a couple of miscarriages, they were overjoyed at the birth of Eliza. But 3 1/2 years later, their daughter was diagnosed with Sanfilippo syndrome.

After establishing a foundation and raising more than $2 million to fund research to help save Eliza and others, the O’Neills are paying it forward with another fundraising goal of $99,000 in honor of their daughter’s ninth birthday. The Cure Sanfilippo Foundation has raised more than $20,000 to help take promising research to the next phase.

Because children born with Sanfilippo don’t have sufficient levels of a critical enzyme, they can’t break down and recycle natural cellular waste. Their cells become clogged with toxic levels of heparan sulfate, resulting in speech problems, developmental delays, challenging behaviors, and poor sleep.

Glenn and Cara O’Neill, whose family has become the face of the disease, produced an emotional video about Eliza that went viral, landing the couple on NBC’s “Today” show.

“It was just great for 2 1/2, three years,” said Glenn, the foundation’s president. “I would say we had the perfect… it was just the perfect life.”

In a video last year, Cara spoke of the disease’s challenges from a caregiving perspective.

”I think people are used to the concept of elderly people getting dementia and losing their abilities, but the fact that it’s happening in young children … kind of blows your mind,” said Cara, a pediatrician. “This disease really presses your limits of what you think in your mind you can handle.”

Two years ago, Eliza underwent experimental gene therapy and has made progress, according to a letter in which her parents imagine what she might say. She has, for example, tried to say words, and enjoys climbing a tree fort. She also is learning to use a fork.

But there is much to be done. According to the foundation, three projects are in need of urgent funding: enzyme replacement, gene therapy, and mesenchymal stem cell therapy to repair the brain.

In addition to clinical stage programs, however, several early-stage innovative approaches are being developed, including the development of certain disease models and screening compounds for Sanfilippo disease Type A and B. Recent grants funded by the foundation can be found here.

”They’ve done something that I’ve never seen anyone do before,” said Deborah Greenhouse, a Columbia, South Carolina physician, in a video. “They took a diagnosis of a devastating disorder, and they turned it from something negative and something tragic into something that would create hope for families everywhere.”