Eliza O'Neill was born with Sanfilippo syndrome, a rare metabolism disorder that hampers the body's ability to break down glycosaminoglycans, long sugar carbohydrate chains present in many cells.
Because her genetic disorder destroys her brain cells, 4 year old Eliza will lose her ability to speak and walk. She will also develop seizures. Unfortunately, there is currently no available treatment for the condition.
Individuals with the disorder, which affects only one in 70,000, do not live far beyond their teenage years. Of the four types of Sanfilippo syndrome, also known as MPS III, Sanfilippo type A is considered the most severe and people who had this often die at an early age. Eliza had type A Sanfilippo syndrome.
Eliza's parents, Cara and Glenn O'Neill learned through the internet that the disease would take a toll on their daughter soon as kids who have the condition often start to regress when they reach 5 or 6 years old. The couple, however, learned of researchers at the Nationwide Children's Hospital in Columbus, Ohio, who were trying to find a cure for the disease.
Doug McCarty and Haiyan Fu have already found a gene therapy that treated the disease in mice. Unfortunately, the cost of setting up a clinical trial prevented them from trying the treatment on humans. They needed $2.5 million for a clinical trial and drug companies are apparently not interested to fund such trial because the disease is rare.
What the O'Neills did was turn to the internet to raise money for the trial. Glenn made a video about Eliza and her rare condition with the help of Canadian filmmaker Benjamin Von Wong and posted it on gofundme.com. In as little as two weeks, the video has gone viral and raised $500,000 which will be used to fund the research on Sanfilippo syndrome.
The O'Neills hope to raise $1 million. To date, they have already gathered $571,623.00. Although the O'Neills are aware that there is no guarantee that the clinical trial will work or if Eliza will even make it to the trial, they said that they have to do everything for their daughter.
"We can't let this happen. We can't stand by and watch our little girl lose everything she is, suffer unimaginable pain and frustration and ultimately die," Glenn wrote for the campaign.
