Family Blows Out Birthday Candles for Daughter with Fatal Sanfilippo Syndrome
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O’Neill Family(NEW YORK) — The O’Neills huddled by the window with 5-year-old Eliza to sing “Happy Birthday,” but she was so busy watching people sing to her from across the street that she didn’t seem to mind when her brother blew her candles out for her.
Eliza and her family haven’t left their South Carolina home in six months in the hopes of keeping Eliza virus-free for the magical day that she gets into a clinical trial to cure her rare and deadly disease: Sanfilippo syndrome. The family has raised nearly $2 million to fund the trial.
“Her big brother helped her blow out the candles as we all made our wish,” her father, Glenn O’Neill, wrote on the Saving Eliza GoFundMe page. “A wish for LIFE for Eliza and other kids. A wish to stop this disease Sanfilippo syndrome in time.”
Eliza was diagnosed in July 2013 with Sanfilippo syndrome, a genetic disorder that means she lacks an enzyme to break down heparin sulfate, which naturally occurs in cells, causing it to build up over time. This buildup renders cells unable to function properly and can affect everything from sleep to speech to movement.
Sanfilippo is terminal and has no treatment. The disease affects about 1 in 70,000 live births, said Doug McCarty, a researcher at Nationwide Children’s hospital in Columbus, Ohio, who has been working on a cure with his colleague Haiyan Fu.
So the O’Neills launched a fundraising campaign to help McCarty and Fu fund a clinical trial for a gene therapy they hope will cure Eliza. They’ve already raised 1.3 million on a GoFundMe.com page and another $400,000 elsewhere. They hoped to raise an additional $500,000 on Eliza’s birthday, Nov. 16.
And they’re close. A donor Sunday contributed $30,000. They’ve already raised more than $10,000 this morning alone.
“We have been in tears several times today thanks to your kindness,” Glenn O’Neill wrote on the Facebook page. “This is really happening.”
The O’Neills aren’t the first family to raise funds for the disease. “A Cure for Kirby” and “Ben’s Dream” are the nicknames for two other Sanfilippo foundations set up by families to raise money toward a cure over the years. Ben Siedman died earlier this year just shy of his 18th birthday. Kirby Wilson is in her early 20s, but wheelchair-bound and unable to speak.
The O’Neills had said they expected Eliza to lose her ability to speak by this birthday. She still talks, but she’s sometimes slower to find the words, and the O’Neills have noticed she’s not learning new things anymore.
There’s no guarantee McCarty and Fu will get government approval to do their clinical trial or that Eliza will get in, but the family said they had to do something, Glenn O’Neill said. There’s also no guarantee it will be a cure.
“If we don’t get the trial funded, and we don’t get it up and running,” Glenn O’Neill said, “the guarantee is that she has no chance.”
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