Earlier this week we introduced you to Eliza O’Neill. Four years ago she was born with Sanfilippo syndrome type A, a rare genetic disorder that causes a deadly buildup of heparin sulfate in her cells. Soon her parents say, Eliza will lose the ability to speak, and walk and then she’ll develop seizures.
There currently isn’t a cure for this disorder, which affects 1 in 70,000 births – across all four classifications. Symptoms often appear after the first year of life, and a decline in learning ability typically occurs between the ages of 2 and 6. Most persons with Sanfilippo syndrome live into their teenage years, but often experience blindness, the inability to care for themselves, intellectual disability, seizures and nerve damage that slowly gets worse and eventually requires wheelchair use.
Looking to change her path Eliza’s parents launched a campaign to create awareness about the syndrome, and to also raise funds to set up a clinical trial.
ABC News reports that the researchers, Doug McCarty and Haiyan Fu of Nationwide Children’s hospital in Columbus, Ohio, have been working on a cure for about 16 years. They’ve found a gene therapy treatment that works in mice, and they hope to try it in humans. But setting up a clinical trial takes money – about $2 million that they don’t have.
That’s where Glenn and Cara O’Neill come in. The couple created a video about their daughter’s condition, hoping for it to go viral. Shortly after Benjamin Von Wong a Canadian filmmaker stepped in to help the family. He and his team created another video that spoke of the family’s history. The video, along with the hashtag #SaveEliza went viral, which has helped raise $600,000 to date.
“From a parent perspective, until someone comes in and tells us a big company is going to pay for it, a hospital, or the government, we are left to go out and do it ourselves,” Glenn O’Neill said in an interview with ABCNEWS. “There is no other choice. I think that is why people are connecting with this video and story.”
Doug McCarty hopes that the gene therapy clinical trial can start later this year. Six children with Sanfilippo type B and nine children with Sanfilippo type A will be injected with a virus that serves as a vector to deliver new genetic material to their cells, hopefully allowing them to make the enzyme they need to breakdown the buildup of heparin sulfate in their cells.
“We don’t want the patient families to have unrealistic expectations,” researcher Fu said. “We don’t want to say it’s a cure now because it isn’t a cure until after the trial.”
The family is aware that Eliza may not get into the clinical trial or that it will work, but said they need to try everything they can for their only daughter.
“We don’t want to be two years from now and say as parents that we left anything on the table,” Glenn O’Neill said.
This couple should be very proud of all of the media attention this story has received this week. They definitely haven’t left anything on the table. In fact they have done more for the disorder than anyone could have ever imagined. We hope that the trial is successful and the team Nationwide Children’s hospital is able to start combating this heartbreaking disease.
