Glenn and Cara O’Neill would do anything to save their daughter, Eliza, from a rare degenerative disease called Sanfilippo Syndrome Type A, including isolating themselves from the world for almost two years. Sometimes referred to as “child Alzheimer’s,” the disease is a degenerative metabolic disorder. Eliza lacks the enzyme that breaks down heparin sulfate, which naturally occurs in the body, causing it to build up over time. Her cells do not function properly as a result of the buildup, which can impair anything from movement to speech to sleep.
According to ABC News, in the last two years alone the O’Neill’s have had to endure watching their child lose the ability to say “I love you,” sing her favorite song, and recite the alphabet. There is no cure for Sanfilippo, but Glenn and Cara wanted to do everything possible to help their daughter. They raised millions of dollars for the foundation they started in hopes that she could take part in an experimental but promising gene therapy trial. If Eliza contracted any common childhood illnesses, it would exclude her from taking part in the trial, so the family decided to isolate themselves from the entire world in order to protect their daughter.
Glenn O’Neill said, “It’s all a very, very tough call to do it,” as the family originally thought it would only be a couple of months, but it turned out to be years. “It went from 100 days to 300 days and 500 days,” O’Neil said. They had very little contact with people wearing special protective gear, or seeing them through windows and doors.
After 700 long days of complete isolation, the family received the call they had been hoping for. Their baby girl would finally receive the experimental treatment that could save her life.
The family was in disbelief that it was actually happening. “After all this time and the difficulty of the journey, you just get paranoid. I wanted to just cradle her for a week and hold her in my arms and hug her,” said Glenn. “It wasn’t until she went into the room and was put under and the doctors came out of 30 minutes later” to say she had received the medication “that we were able to let down and cry and say this is happening,” he recalled.
The O’Neills hope that they can help others like their daughter by sharing their story and helping to raise funds for their foundation, Cure Sanfilppo Foundation, to help find a cure.
As they adjust to living outside the confines of their home once again, O’Neill says he is hopeful that the treatment will help Eliza. He says that so far, she seems to be more responsive than she was before the medication.
“To see her do these things and interact and see these things that we thought were gone forever,” he said. “All we want to do is spread this story far and wide.”