In July, the health department began screening for severe combined immunodeficiency, or SCID, more commonly known as bubble boy syndrome.
Randall said SCID has not been detected since the lab began screening for it, but it is bound to come up at some point.
"Having this on the screening list is going to save lives," said Jill Heaps, whose daughter, Emily, has SCID.
Emily's case, however, was not identified by a routine screening, as the test was not available 12 years ago when she was born. The family discarded early photographs of their newborn because of a bluish appearance that was mistakenly blamed on the photographer or the equipment.
They waited weeks for specialists to make a diagnosis on their baby, who was suffering various illnesses. It was time they've since learned was valuable.
"It's an emotional experience when you find out your child has something that is life-threatening," Heaps said.
Emily has since endured two bone marrow transplants and dons two cochlear implants to aid her hearing, which was destroyed from a medication taken at one point to save her life.
"She looks just like a normal child should," her mother said, adding that she knows Emily is better off than most kids with SCID. She knows of five others with the condition who have died this year.
Hart said it takes years for a new condition to end up on the list of those already being tested, as it requires federal recommendation and local legislative approval. Each must be shown to be somewhat prevalent, treatable and cost-effective to screen, among other factors.
The state lab receives about 600 to 800 samples each day. Some results are benign and life for those infants goes on as usual, but some, as for Emmalyn, are life-changing.
"It's normal for her," Shaw said. "But she knows she has cystic fibrosis. I never hide that from her because I think it can be her strength as much as it is a hardship for her."
In addition to the 38 conditions tested with the heel prick, the state also conducts newborn hearing screenings, which "saves lives in a different way," said Rich Harward, an audiologist with the state's Children's Speech and Hearing Clinic. He said up to 120 babies are born each year in Utah with permanent hearing loss.
"Children have a critical window in their development" when intervention can reverse such loss, Harward said.
By providing hearing aids and cochlear implants at a more opportune time, families can also save more than tens of thousands of dollars in special education costs throughout their child's education, he said.
"There is nothing more important or affects more people than newborn screening," said Dr. David Patton, director of the Utah Department of Health.
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