Five-year-old Eliza O’Neill, of Columbia, SC, wants only one thing for her fifth birthday – to live.
Eliza suffers from a genetic disorder known as Sanfilippo Syndrome, meaning she lacks a vital enzyme for cellular function. The terminal condition causes an gradual buildup of heparin sulfate, a toxic material that leads to “learning disabilities and behavioral problems,” according to the Daily Mail. Children suffering from Sanfilippo Syndrome are not typically expected to live longer than their teens.
A year ago, Eliza’s family anticipated her losing her ability to speak by the time of her fifth birthday. Glenn O’Neill, Eliza’s father, said that while she can still talk, the disease is beginning to have an effect on her development. Some days are better than others when it comes to her ability to speak normally, and she is reportedly no longer able to learn new things.
"It's the disease beginning to catch up with her,” Glenn told ABC News. “This disease just kind of taunts you. You don't know when things are coming but you see them happening."
After Eliza’s diagnosis, her family began attempting to raise money for a clinical trial for gene therapy that could potentially help to cure her disease. While there is no guarantee that the therapy would work, the O’Neill family felt they had no choice but to try. They set up a crowdfunding campaign via GoFundMe.com that raised $1.3 million, and have also raised an additional $400,000 outside of the campaign.
“If we don't get the trial funded, and we don't get it up and running, the guarantee is that she has no chance,” Glenn said.
The family has remained inside their home for the past six months in order to prevent anyone in the family from catching a virus that could be transferred to Eliza. Eliza’s mother has quit her job as a pediatrician, and her brother has been pulled from school and is now being homeschooled.
The family will be giving Eliza a birthday in their backyard, and Glenn tells ABC news that he plans to “dress like a clown and juggle.”
The gene therapy treatment, if funded and approved, would occur next year. The treatment has, according to reports, successfully rid mice of heparin sulfate.