Mom Fights for Cure After Son's Rare Disease Diagnosis

A Rock Hill mother is turning her family's medical crisis into hope for thousands of others facing rare disease diagnoses.

Julia Friar will never forget day nine of her son Asher's life. Nurses rushed to insert IVs into his tiny head while she held her jaundiced newborn, terrified he might not survive.

Asher has galactosemia, a genetic disorder so rare that only about 15 patients are treated in the entire Charlotte area. His body can't produce the enzyme needed to break down galactose, a sugar found in milk and dairy products.

"There are nurses and doctors putting IVs in his head, and I'm just holding my newborn," Julia recalled. A nurse warned the new parents that survival wasn't guaranteed, and if Asher lived, the road ahead would be long.

Dr. Katherine Dempsey, a medical biochemical geneticist treating Asher, explained that the condition requires a strict soy-formula diet for life. No breastfeeding. No dairy. Even with careful management, seizures and developmental delays remain a constant risk.

Three years later, Asher is thriving like any other toddler. His success comes from rigorous dietary management and his mother's unwavering determination.

Why This Inspires

Julia refused to let fear win. She founded Care 4 Rare, a website dedicated to fundraising and awareness for rare disease research. She travels nationwide to speak at medical conferences and meets with lawmakers to advocate for families who feel alone in their diagnoses.

"I can be the mom that sits back and says, 'Woe is me, this is hard,' or I can get up and do something," Julia said. That choice has transformed her family's struggle into a lifeline for others.

Beyond fundraising, Julia personally helps families navigate the overwhelming first days after receiving devastating diagnoses. She understands the terror of watching medical teams work on your newborn, the confusion of complex medical terms, and the isolation of managing a condition most doctors have never seen.

Her husband Johnathon remembers feeling like the world was spinning when they first heard the diagnosis. Now that same family is steadying others through their darkest moments.

Julia's advocacy work extends beyond galactosemia to support all rare disease families, creating community where isolation once lived. Every dollar raised and every family guided brings the medical community closer to treatments and cures that seemed impossible on day nine.