Millions given to Primary Children’s to diagnose, treat kids with genetic disorders

SALT LAKE CITY – Seven-year-old Scarlet was born with an undiagnosed genetic disorder that causes seizures and developmental delays.

“We knew when I was pregnant with her that she was going to have something, we just didn’t know exactly what that meant,” her mom, Cassandra Hill, said.

Doctors ran tests when she was an infant, but nothing yielded a diagnosis.

“We were able to start doing care for her the best that we could with the things she was struggling with, but we didn’t quite know exactly why,” Hill said.

That was until a few months ago, when Scarlet’s neurologist – Dr. Joshua Bonkowsky with U of U Health and Primary Children’s Hospital – suggested they try whole genome testing again.

Thanks to scientific advancements made over the years, they finally received an answer.

“I have a diagnosis,” Scarlet said. She was diagnosed with gene TUBB2B Tublinopathies, which can affect brain development and can cause seizures, developmental delays, and eye problems.

Scarlet was tested using advanced genome sequencing, thanks to a new program—Primary Children’s Gene Kids. The $9 million in funds for the program came from a grant from The Warren Alpert Foundation and philanthropic donations.

“It was just such a relief to know that we’re going to have more knowledge to battle whatever comes up with her,” Cassandra said.

Bonkowsky said Gene Kids is a game-changer, allowing them to expand access to genome sequencing for children across the Intermountain region.

“Even if you’re not here in the hospital, if you’re on a farm, if you’re living in a frontier area, if you’re living on a reservation, if you’re living in an apartment downtown, we can make sure you get that diagnosis,” he said.

Cassandra said they are learning a lot about the gene and connecting with other families with kids like Scarlet.

“It’s been really helpful to have a community of people,” she said.