O’Neill family races against time to find Sanfilippo cure, as disease starts taking toll on 5-year-old Eliza

Time is against Eliza O’Neill.

The bubbly 5-year-old is not the same girl her family could see even a year ago. Time is taking her away.

The regressive effects of Sanfilippo Syndrome, a rare, terminal genetic disease, are becoming more obvious in Eliza.

Diagnosed two years ago, Eliza is reaching the age when the disease starts to show its signs of declining learning ability and mental function. By age 6, most children with the disease have irreversible brain damage and lose the ability to speak. Many don’t live beyond their teens.

Eliza’s family can only hope for a miracle treatment or cure to put more time on their daughter’s clock.

“As Eliza gets older, we see the disease progress in her more,” Eliza’s father, Glenn O’Neill, said. “All we can do is go forward. All we can do is remain positive and ... keep getting her story out there.”

An emotionally charged year-long fundraising campaign leading up to Eliza’s 5th birthday last November raised nearly $2 million to help propel an experimental gene therapy trial the O’Neills hope might help Eliza. But that wasn’t enough to overcome hurdles the trial still faces to getting under way, and the trial still needs more time and money.

This Saturday, the O’Neills and supporters around the country and as far away as Peru are hosting a renewed fundraising campaign dubbed #7Eleven, with dozens of garage sales, lemonade stands and other sales giving proceeds to go toward Sanfilippo research and treatment.

Through their Cure Sanfilippo Foundation, the O’Neills continue to push toward a financial goal for treatment as well as a goal of raising awareness of the disease.

Eliza’s story captured attention around the world during last year’s fundraising campaign as a result of the viral #SavingEliza Youtube video. The awareness brought to her story and to Sanfilippo Syndrome helped start a potentially life-saving chapter in the life of 5-year-old Will Byers.

Will’s mother, Valerie, came upon Eliza’s story earlier this year from a Today Show post about the #SavingEliza video.

“As soon as I watched that story and watched that video, I started crying,” said Byers, whose family lives near Houston in Spring, Texas. “I knew those symptoms were what Will had. My heart just broke.”

Will had been diagnosed in August 2014 with autism, but the diagnosis never sat well with his parents.

“We never felt like that fit everything that was different” about Will, Byers said.

When the O’Neills’ story opened Byers’ eyes to her son’s symptoms, Byers had him tested immediately for Sanfilippo. A positive diagnosis for Sanfilippo Type B – different from Eliza’s Type A – came back just in time for Will to be accepted into the last spot for an experimental enzyme replacement therapy trial.

“We would have continued along with the misdiagnosis of autism if (the O’Neills) had not raised awareness by sharing their story,” Byers said. “Because of the O’Neills and their awareness, we now have a chance.

“When you have Sanfilippo, time is your greatest commodity and your greatest enemy. You can’t waste it.”

The O’Neills know that truth painfully well, as they continue to wait for their daughter’s one possible saving grace treatment to come through.

Eliza goes through behavioral therapy and learning and memory exercises to help keep her mind sharp, but the family already can see how words and thoughts get clogged up inside her and are unable to be expressed, her father said.

“These next six months, it’s going to be a wild ride,” Glenn O’Neill said. “Six months in this disease can be an eternity. It can be the difference in her never talking again.”

But they keep up their hope, and they keep up their fight for a treatment and a cure.

“When it’s all you have, you have to go after it like it’s a miracle,” O’Neill said. “We’re just keeping at it, trying to keep our spirit and our hope. And we’re not going to let that go.”

This story was originally published July 9, 2015 at 5:58 PM.