BOZEMAN, Mont. — At 5 years old, Loic Blackford loves Spider-Man, American flags and the color red. His mom describes him as funny, intelligent and strong.
WATCH: Here's how one family is turning their son's rare diagnosis into a fight for a cure
But behind his big personality is a rare genetic disease that has changed nearly every part of his family's life.
Loic was diagnosed with pantothenate kinase-associated neurodegeneration, or PKAN, when he was 2½.
PKAN is a rare genetic disorder that affects an estimated one to three children in every million. Over time, the disease can cause a person to lose physical and cognitive abilities.
When Sherine Blackford began researching her son's diagnosis, she said what she found was difficult to comprehend.
“It's coming up on the screen that it's terminal, there is no treatment, there is no cure. It's not if he's going to be in a wheelchair; it's not if he's going to have a feeding tube; it's when.”
For Sherine, the diagnosis meant confronting a future she never imagined for her son.
“Over time you slowly lose every ability that you have,” she said.
Before his symptoms progressed, Loic was reaching milestones, although Sherine said he was sometimes slower than other children his age.
“He was running, he was walking, he was counting, he was learning his colors and his sounds,” she said.
Then, last October, Sherine said those abilities began to disappear.
Despite the setbacks, Loic continues to show his personality — and his smile.
He has undergone countless surgeries in Boston and started kindergarten this year.
“His teachers are amazing; his school is amazing; everyone rallies around him,” Sherine said.
That support has become an important part of the Blackford family's fight.
The family started the Loving Loic Foundation, an organization focused on funding research into treatments and a cure for PKAN.
The foundation is working with the University of Massachusetts Chan Medical School to develop a gene therapy for the disease.
For Sherine, the possibility of a treatment is no longer just an idea.
“It exists. It's no longer just a theory, it's something that is already in this world, and we need to push to get the rest of the money so we are moving in a timeline that saves these children's lives,” she said.
The Loving Loic Foundation has raised $3 million toward its $5 million goal.
Sherine hopes the research will eventually help more than just her son.
“If we are able to do this in this disorder, it creates a pipeline for doing it in others,” she said.
And as the family works toward that goal, Sherine said they have found support from people they never expected.
“What this has shown me is that this community is amazing and there are so many people who are just willing to help you, even strangers,” she said.
The Loving Loic Foundation will hold its third annual gala Oct. 9 at the Armory.
For information about the gala or how to support the foundation, you can click here to visit the Loving Loic Foundation website.
