Young Girl’s Rare Deadly Disease Helps Raise Over $500,000 for Research

Eliza O'Neill is a four-year-old from South Carolina who was diagnosed with Sanfilippo syndrome, which is a rare deadly disease that causes one to lose the ability to speak and walk. Most of those diagnosed don't live far into their teens.

She suffers from Sanfilippo type A, the most severe form of the disease. Those diagnosed with type A are missing or have an altered form of an enzyme called heparin N-sulfatase. Sanfilippo syndrome in general does not allow the body to properly break down long chains of sugar molecules, affecting the body's behavior.

Eliza's parents, Glenn and Cara, decided to make a video about Eliza in hopes of raising money to research the rare untreatable and incurable disease. In six months they helped raise $250,000 locally - not a bad accomplishment for a grassroots fundraiser. Then they decided to make their video a month ago and it went viral. In a two-week span the video reached people across the world and raked in over $500,000 in fundraising.

"From a parent perspective, until someone comes in and tells us a big company is going to pay for it, a hospital, or the government, we are left to go out and do it ourselves," said Glenn O'Neill in this ABC News article. "There is no other choice. I think that is why people are connecting with this video and story."

Eliza's parents hope to use the money they've raised, and also raise more money, for two researchers at the Nationwide Children's hospital in Columbus, Ohio. Doug McCarty and Haiyan Fu have been working on a cure for Sanfilippo syndrome for over 16 years and the next step in their studies is setting up a clinical trial for their gene therapy treatment (which they found works in mice). The cost of the clinical trial is about $2 million, and the O'Neill's are almost halfway there.

Sanfilippo syndrome only affects 2,000 children each year worldwide, so it's very difficult for researchers to obtain money for exploring it, and it's very unlikely a drug manufacturer would invest in research and experiments for its cure.

You can help donate to the O'Neill's cause at GoFundMe.com where 100% of the contributions will go to the clinical trial for the researchers in Ohio.