Eliza O’Neill was diagnosed with Sanfilippo Syndrome back in July 2013. The disease attacks a person’s metabolism and prevents their body from breaking down sugar molecules. It also causes severe neurological symptoms, including intellectual disability.
An estimated 2,000 children are born with Sanfilippo Syndrome worldwide each year.
In the video, Eliza’s fight is documented in an effort to raise money that could fund a cure for the 4-year-old.
Cara took Eliza to a genetics meeting back in July 2013 when doctors told Cara about the diagnosis.
“They said… you know… ‘I’m not going to beat around the bush. I’ll just tell you like it is. She has Sanfilippo Syndrome.’ Having heard about the syndrome before through my medical training, I just… that sinking pit in your stomach feeling. This is really bad,” Cara says in the video.
By the time Eliza is 5-years-old, she will lose the ability to speak.
“You know where it’s headed. It’s headed toward suffering… it’s headed toward pain. As a father, you want to be able to protect your children,” Eliza’s father, Glenn, says in the video.
Most people diagnosed with the syndrome live into their teenage years. Others with more severe cases of the syndrome, like Eliza’s, die at an earlier age.
Doctors said symptoms appear most severely in people diagnosed with type A Sanfilippo Syndrome, the one Eliza is fighting to beat.
Now, the family is fighting to raise money for a new treatment that would require Eliza to enter a gene therapy trial that starts later this year.
The donations will support the gene therapy trial being conducted at Nationwide Children’s Hospital in Columbus, Ohio. The hospital is attempting to get FDA approval to start treating the disorder.
“If the money doesn’t come in time, she’ll stop speaking in the next 6 months. She’ll stop walking in the next two years. Stop feeding herself in the next 3-4 years. She’ll develop seizures and movement disorders… experience a lot of pain and suffering. And then she’ll die,” Cara says in the video.
If successful, the therapy could prevent the syndrome from destroying Eliza’s body.
Researchers said that they can begin ordering doses of the gene as soon as $1 million is raised. The treatment will cover 15 children, who will be injected with the gene and monitored for the next 15 years.
Eliza’s parents set the gofundme.com goal at $1 million.
“We need action. We don’t just have hope… there is something very real that exists, that with enough money will happen and happen in time for Eliza and other kids,” Cara says in the video.
The video has been watched over 80,000 times and their gofundme.com fundraiser has already raised over $165,000.
Interested in donating? The family is collecting contributions at gofundme.com. All donations will go directly to funding the trial. Checks can also be sent to: Cure Sanfilippo Foundation; PO Box 6901; Columbia, SC 29260.