Mother channels fear into advocacy after son’s rare disease diagnosis

ROCK HILL, S.C. — Just days after her son was born, Julia Friar learned he had galactosemia, a rare genetic disorder that can be life-threatening. Three years later, the Rock Hill mother is channeling that fear into advocacy, working to raise awareness and funding for a cure.

Three-year-old Asher is just like any other toddler.

“It was terrifying,” said Julia Friar, his mother.

ALSO READ: Local family of boy with rare disease raises awareness, spreads hope

Julia Friar and her husband, Johnathon, who live in Rock Hill, didn’t know if their son would grow up to enjoy life.

“I think about day 6 or 7 is when we started saying, ‘OK, he’s still really yellow,’” Julia Friar said.

Asher showed symptoms of jaundice, which is a tell-tale sign of galactosemia, a very rare genetic disease.

His parents were told to rush to Atrium Health Levine Children’s Hospital.

“There are nurses and doctors, they’re putting IVs in his head. They’re cathing him. And I’m just holding my newborn,” his mother said.

Asher was just 9 days old.

“I just remembered a nurse said he may not survive and if he does, it’s going to be a long road,” Julia Friar said.

Johnathon Friar said it felt like he blacked out and the world was spinning.

One of Asher’s doctors spoke with Channel 9’s Hunter Sáenz.

“His body is missing the enzyme needed to break down milk, specifically galactose which is found in milk and dairy products,” said Dr. Katherine Dempsey, a medical biochemical geneticist.

She explained how rare the disorder is for people.

“We have about 15 patients from all of the Charlotte area,” Dempsey said.

The diagnosis meant no breast feeding and he must be on a soy-formula diet.

There is no cure; however, it can be managed with a strict diet.

There are always a chance seizures or developmental delays could start.

Julia Friar has devoted her life to finding a cure.

“I can be the mom that sits back and says, ‘Woah is me, this is hard,’ or I can get up and do something,” she said.

She has traveled across the country, spoke at conferences and with lawmakers to bring awareness and fundraising for all rare disease.

Julia Friar now dedicates her time to fundraising through her website, Care 4 Rare, traveling to rare disease conferences and personally helping families navigate devastating diagnoses.

VIDEO: Teen with rare heart condition defies odds, inspires others with his journey