The family of a 5-year-old girl with a genetic disorder that could rob her of the ability to speak, walk and feed herself is quarantining themselves in their home in Columbia, South Carolina, in hopes of keeping their daughter, Eliza, healthy enough for a clinical trial that could save her life.
“It’s a tough decision we struggle with, because these could be Eliza’s best days, and we’re taking her away from the zoo and the playground and things that she loves in the hopes that it’s going to be worth it, giving her a better chance at having a full life,” her father, Glenn, explains.
Eliza was diagnosed with Sanfilippo Syndrome in July 2013 after her parents noticed some developmental delays that led them to have an MRI and a screening test performed. Sanfilippo Syndrome is a genetic disorder in which the body is unable to properly break down long chains of sugar molecules. Eliza’s mother, Cara, who is a pediatrician, explains that children with Sanfilippo Syndrome develop normally for the first couple years until the enzyme deficiency causes a buildup of toxic material, which causees them to regress.
The disorder causes severe neurological problems and leads to debilitating intellectual abilities. By age 6, most children with the disorder have brain damage and lose the ability to speak. Children slowly lose the ability to walk and feed themselves. They often develop seizures and are not expected to live into their teen years.
“You know where it’s headed. It’s headed toward suffering. It’s headed toward pain,” Glenn says. “As a father, you want to be able to protect your children.”
The O’Neills discovered that doctors at Nationwide Children’s Hospital in Ohio are researching a possible cure for the disorder involving gene therapy and have seen success in animal tests, but they do not yet have funding for human trials. Cara explains that participants in the trial would get a one-time infusion into the blood stream. The infusion would give children a normal copy of the gene needed to make the enzyme they're missing.
Within weeks of the diagnosis, the family began raising money to help fund a trial that could help save the life of Eliza and other children with the condition.
The family decided to quarantine themselves after hearing from other families that getting a common virus could accelerate the effects of the disease. The O’Neills want to keep Eliza as healthy as possible in the hope that she will be a strong candidate when the trial, which could start as early as 2015, is funded.
The Doctors surprise the O’Neills with a $15,000 contribution to the Saving Eliza campaign, donated by Basis, the maker of the Peak fitness and sleep tracker.
To learn more about Sanfilippo Syndrome and to donate money to help fund the trial and additional research, visit www.savingeliza.com.