(KUTV) -- Heidi Wallis' oldest child, Samantha, was born with a rare disease. Her body doesn't produce enough creatine, which can cause brain damage.
It's easily treated if treated from birth, but it was not among the diseases the state lab tested. By the time Samantha showed signs, she was 5-years-old and it was too late.
Samantha will require assisted living for her entire life.
“There's no getting back those formative years," Heidi said.
Learning that the gene runs in her and her husband's blood, Heidi knew to test her other children when they were born. Sure enough, her fourth child, Louie, tested positive for the condition.
A long as Louie takes a simple, over-the-counter supplement, he won’t suffer the same fate as his older sister.
"He's six, now, and he's been treated since birth and he's unaffected," Heidi said.
Heidi is now pushing for states all over the country to test for the disease in newborn screenings and health departments having infant blood in a freezer makes that possible. She said:
Without all of those samples, they can't do research for rare diseases.
In fact, the remnants of Samantha and Louie's blood, saved for years in that freezer, are now being shared with state labs all around the country so those states can develop their own tests.
Heidi worked closely with the state’s newborn screening team and the condition that effects Samantha and Louie is now tested for in the state of Utah.
Heidi says that what is left of Samantha and Louie’s baby blood panels are now being shared with state health departments all over the country so that those states can also learn what to look for to know if a baby has creatine deficiencies.