Many Americans don't know about a rare genetic disorder that affects about 1 in 70,000 people called Sanfilippo syndrome.
The condition is described, in part, as:
A progressive disorder that mainly affects the brain and spinal cord (central nervous system). People with MPS III generally do not display any features of the condition at birth, but they begin to show signs and symptoms of the disorder during early childhood. Affected children often initially have delayed speech and behavior problems.
This condition causes progressive intellectual disability and the loss of previously acquired skills (developmental regression). In later stages of the disorder, people with MPS III may develop seizures and movement disorders.
A more upsetting name for it is Childhood Alzheimer’s.
The Washington Post recently told the story of a family who struggles with this disease.
Little Eliza O'Neill was diagnosed with Sanfilippo syndrome in 2013 when she was just 3-and-a-half years old.
Initially, doctors assumed some of Eliza's issues were indicative of autism. But after the family took her to a geneticist, they received the news that Eliza was battling a terminal illness.
As a result of this newly diagnosed illness, she would deteriorate in ways no parent should have to witness — losing her ability to walk and talk, among the other ailments she would suffer.
Even more devastating, she'd likely be wheelchair-bound by age 10 and require around-the-clock care.
Eliza's Mom, Cara, discussed receiving the news about her daughter:
“At that point, the bottom falls out of your entire world,” Cara told The Washington Post, “and you have to figure out where you’re going to go from there.”
The O'Neills held onto hope that Eliza would be eligible for a clinical trial that could help her chances. However, there was a catch. Eliza could not contract a specific virus — AAV9 — if she were to have a chance at participating in the trial. If her body built up an immunity to AAV9, she'd become ineligible.
Her father Glenn explained:
“Her body would then reject the gene therapy,” Glenn says. “So when the trial happens, she wouldn't be able to take part in it. We are not going to risk that.”
So, Eliza's family took a drastic measure.
They quarantined themselves in the house for 726 days — over two years. They home-schooled their children, and any teacher or therapist who entered their home had to wear a mask and gloves. If family members went outside, it was only to isolated areas, where no other people were present.
The O'Neills also did exhaustive fundraising for further research of the gene therapy during their self-imposed quarantine. They are just over halfway to making their $4 million fundraising goal, and they are still accepting donations.
In May of this year, doctors called the O'Neills with the life-changing news that Eliza had the go-ahead for the gene therapy trial.
After she recovered, the whole family moved out of their 2-year bubble.
Though they have no idea whether the therapy will work or not, the O'Neills are hopeful. They also continue to raise money for other families struggling with this rare, terrible disease.
As for his daughter's struggle, and those suffering from the same disease, Glenn O'Neill has only one answer: “We will never give up.”