Montana family faces the unthinkable as child battles rare genetic disease

Bozeman, Montana – As a Bozeman family’s kid fights a rare genetic ailment, they are experiencing heartache and devastation. They aren’t losing hope, though, despite everything.

“I spent the first few days crying and grieving that this is what’s going to happen to him,” said Sherine Blackford. “Then I spent the next four days being angry at the world—now, I just want to find a solution.”

Loic Blackford, the son of Sherine and Mark Blackford, displayed developmental impairments at the age of barely 14 months, prompting their investigation.

“He was having trouble sitting, pulling himself up, he wasn’t walking, or babbling,” said Sherine. “I was on a mission to figure out what was wrong.”

Sherine and Mark received news on March 25, 2023, that would alter their lives forever.

“We got on the Zoom call, and they just said, ‘We have some really bad news.’,” said Sherine.

Following genetic testing, Loic, now 22 years old, was identified as having PKAN, a rare genetic disorder affecting 1 to 3 children per million.

“They start to describe how bad it’s going to be and I’m just hearing ‘wheelchair,’ ‘feeding tube,’ and it’s not if these things happen to your child, but when,” said Sherine.

The Blackfords were informed by doctors that kids with PKAN, like Loic, don’t live past the age of ten.

But despite his difficulties, Loic has otherwise continued to grow and develop properly.

“He’s such a positive and happy child,” said Sherine. “When he walks into the room he always has a smile and he’s such a bright light.”

Even when he’s taking a tumble.

“While he can walk and run now, he probably falls 10 to 50 times a day,” said Sherine.

Sherine doesn’t give up hope despite the fact that there is presently no cure for PKAN.

Within two weeks following Loic’s diagnosis, she and her husband founded the Loving Loic website and Foundation.

“I wanna be really raw and real in sharing our story so other parents have something to look at and find support in,” said Sherine.

Visit the Loving Loic page to find out more and to contribute to Loic and the Blackford family.

“My coping through this is finding an answer,” said Sherine. “To either prolong this so he has the best life every single day or to find a cure.”