The Glenn and Cara O'Neill family of Columbia, South Carolina, has raised enough money to launch a clinical trial in hopes of saving 5-year-old Eliza from a disease that will otherwise rewind her development and ultimately kill her.
It's a journey that has relied upon donations from thousands of strangers through a GoFundMe campaign, and the dedication of her parents, who have cloistered their small family in isolation to prevent exposure to outside bugs that could hamper participation in the clinical trial that their international fundraising efforts made possible.
As the Deseret News reported last year, Eliza has Sanfilippo syndrome Type-A. Her body lacks an enzyme that breaks down sugar molecules and without it, she will ultimately die. But first, she'll lose the progress she's made developmentally.
There's no guarantee that she'll be selected for the clinical trial that they raised $2.2 million to make possible, but they're hoping that isolating themselves for nine months will prevent any exposure to a virus called AAV9 that is going to be crucial to delivering a cure if Eliza is selected to participate in the trial. And they're delighted that other children with the rare disease will get a chance through their efforts as well.
This week, the O'Neills released a touching video of a daddy-daughter dance, since Eliza was unable to participate in the Frozen-themed dance put on by her school this winter.
Today.com explained her disease it this way: "Children with Sanfilippo syndrome are born with two copies of a faulty gene. Normally, the gene makes an enzyme that breaks down glycosaminoglycans, or GAGs, which are long chains of sugar molecules that are the glue that holds cells together. Without the enzyme, GAGs build up inside the cells, gunking everything up and eventually killing them."
Researcher at Nationwide Children's Hospital figured out a way to let functioning copies of the defective gene hitch a ride on the AAV9 virus into the affected individual's brain, where they "infect" it with the copies that do work. In mouse experiments, the damage was corrected, winding back the disease's effects, Douglas McCarty, principal investigator and associate professor of pediatrics at Ohio State University College of Medicine, told Today.
In an email to reporters who have covered Eliza's story in the past, the O'Neills provided an update. "We don't have the fairy-tale ending not yet. How is Eliza doing? She's happy. She still is speaking, reciting her letters and counting. She is holding on as best she can. We are now nine months into our self-imposed isolation. For 280 days our family has had little to no contact with any people directly, or to anything people have touched."
During the quarantine, the O'Neill parents Cara, a pediatrician, and Glenn, who works from home remotely have found lots of ways to keep Eliza and big brother Beckham, 8, entertained.
"The family leaves their house about once a week to go to an empty beach or field, where Eliza and Beckham can run around and ride their bikes," according to People.com.
Glenn O'Neill said the isolation is the only way to keep them safe during a critical period while they try to avoid any chance Eliza could pick up a virus that would prevent her from participating in the clinical trial, which has been delayed by drug production problems.
"They also started their own Dancing with The Stars competition where they put their iPod on shuffle and judge each other's dancing skills," according to People magazine, which noted that "the family plays make-believe in the backyard, lets Beckham give them haircuts and the walls of their house have become a place to create artwork."
It's a journey that has relied upon donations from thousands of strangers through a GoFundMe campaign, and the dedication of her parents, who have cloistered their small family in isolation to prevent exposure to outside bugs that could hamper participation in the clinical trial that their international fundraising efforts made possible.
As the Deseret News reported last year, Eliza has Sanfilippo syndrome Type-A. Her body lacks an enzyme that breaks down sugar molecules and without it, she will ultimately die. But first, she'll lose the progress she's made developmentally.
There's no guarantee that she'll be selected for the clinical trial that they raised $2.2 million to make possible, but they're hoping that isolating themselves for nine months will prevent any exposure to a virus called AAV9 that is going to be crucial to delivering a cure if Eliza is selected to participate in the trial. And they're delighted that other children with the rare disease will get a chance through their efforts as well.
This week, the O'Neills released a touching video of a daddy-daughter dance, since Eliza was unable to participate in the Frozen-themed dance put on by her school this winter.
Today.com explained her disease it this way: "Children with Sanfilippo syndrome are born with two copies of a faulty gene. Normally, the gene makes an enzyme that breaks down glycosaminoglycans, or GAGs, which are long chains of sugar molecules that are the glue that holds cells together. Without the enzyme, GAGs build up inside the cells, gunking everything up and eventually killing them."
Researcher at Nationwide Children's Hospital figured out a way to let functioning copies of the defective gene hitch a ride on the AAV9 virus into the affected individual's brain, where they "infect" it with the copies that do work. In mouse experiments, the damage was corrected, winding back the disease's effects, Douglas McCarty, principal investigator and associate professor of pediatrics at Ohio State University College of Medicine, told Today.
In an email to reporters who have covered Eliza's story in the past, the O'Neills provided an update. "We don't have the fairy-tale ending not yet. How is Eliza doing? She's happy. She still is speaking, reciting her letters and counting. She is holding on as best she can. We are now nine months into our self-imposed isolation. For 280 days our family has had little to no contact with any people directly, or to anything people have touched."
During the quarantine, the O'Neill parents Cara, a pediatrician, and Glenn, who works from home remotely have found lots of ways to keep Eliza and big brother Beckham, 8, entertained.
"The family leaves their house about once a week to go to an empty beach or field, where Eliza and Beckham can run around and ride their bikes," according to People.com.
Glenn O'Neill said the isolation is the only way to keep them safe during a critical period while they try to avoid any chance Eliza could pick up a virus that would prevent her from participating in the clinical trial, which has been delayed by drug production problems.
"They also started their own Dancing with The Stars competition where they put their iPod on shuffle and judge each other's dancing skills," according to People magazine, which noted that "the family plays make-believe in the backyard, lets Beckham give them haircuts and the walls of their house have become a place to create artwork."
