SALT LAKE CITY — A tiny blood spot is the same as a life to Andy Rohrwasser.
He's the director of newborn screening at the Utah Public Health Laboratory and he believes every child deserves a fair start at life through a routine blood test, a public service, that screens for dozens of potentially severe or life-changing conditions.
"We are saving babies," he said.
And Juniper Horrocks is one of those babies.
She was born almost two years ago with a complicated metabolic condition that doctors wouldn't have known about without the simple blood test and a timely tweak in the routing procedure that got results back to the rural Roosevelt hospital more quickly than had been the usual process.
"Her blood sugar kept dropping. She was getting weaker every day. She had no strength to eat," said Jerrah Horrocks, Juniper's mom. She believes her daughter would've died in her sleep had she not been born early and was hospitalized while doctors awaited the newborn screening results.
"It was so scary when she was little, we didn't know what to expect when she got older," Jerrah Horrocks said. "Now that she's older, she's perfectly normal and healthy."
To manage the medium-chain acyl-CoA dehydrogenase deficiency (MCAD) she has, young Juniper needs to eat something at least every 10 hours and she takes medication every day to help her body break down the acids her mutated genes cannot.
"We were very, very fortunate," Jerrah Horrocks said. "A lot played into it that definitely saved her life." Having had two healthy children before Juniper, the Roosevelt mother said she's even more grateful for the routine test and because it saved her daughter's life, she's now more apt to discuss it with friends and other mothers, to increase awareness of it and the implications it carries.
The Newborn Screening Laboratory that Rorhwasser runs receives and processes more than 100,000 blood tests every year, two cards done at separate times for each baby born in Utah. The state averages about 52,000 babies each year, and, nationally, about 1 in 800 tests results in detection of some type of potentially severe problem.
"Because we are dealing with such critical disorders, time is of the essence," Rohrwasser said. "We cannot operate like other state agencies with an 8 to 5 schedule, five days a week." His lab receives samples Monday through Saturday, and analyses are done Sunday through Friday.
Utah law requires babies to be tested within 48 hours of birth so that the results can be back in the hands of physicians and parents while treatment for the potential disorders is still a valid option. A second test is done between seven and 28 days of life to solidify the data.
The process, involving drops of blood on special, time-sensitive filter paper (actually an FDA-approved medical device) that is sent to the lab, screens newborns in Utah for 39 rare, genetic or metabolic defects and disorders, some of which can mean life or death for these newest members of society.
The majority of disorders detected are metabolic, interfering with the body's ability to make and use energy, like Juniper with MCAD. The disorders can hinder development in some cases, but early diagnosis can help put kids on the right path, Rohrwasser said.
He said the standard medical procedure can be life-changing for families who are unaware they carry genetic anomalies. Sometimes it changes plans for additional children, as it did with the Horrocks.
"When you don't know what the dangers are, you can (unknowingly) take some risks with your kid," said Robyn Atkinson-Dunn, director of the state lab who is on maternity leave after having baby Murron Rose Dunn two weeks ago. Murron received her first blood test — a simple heel stick — shortly after birth and had her second test last Thursday.
"It's such a benefit," Atkinson-Dunn said, adding that it is a huge relief for moms to know if something is wrong and what that might be. She said the facility would love to be able to test for more disorders, but there needs to exist some treatment or remedy to make it worthwhile.
The new mother said, so far, Murron is in the clear, "thankfully."
"We care that every baby starts in the same way, that all babies have the same opportunity at life," Rohrwasser said.
The cost for the test is $103, usually paid by a family's health insurance, and it rules out things that could potentially threaten a new baby's life or quality thereof. The test, as well as the resulting information, becomes the baby's first record of blood, to be drawn upon for years to come, as babies grow.
New tests are added when enough information is available or testing is deemed necessary, as long as the lab can support it. Conditions are studied by a national panel of experts to determine whether it is well-understood and whether detection and treatment is beneficial.
"We want to be able to screen for more disorders, but we need to be able to do something about it when it is detected," Atkinson-Dunn said.
Rohrwasser said newborn screening results have helped with the development of treatment options for rare disorders.
Unlike some states, the Utah lab stores the blood spots — uniquely collected on specially marked filter paper within 24 to 48 hours after birth — for a minimum of 90 days, though it currently has about two years of data housed in temperature-controlled freezers. Only certain people have access to the freezers, and they only return to the sample cards when there's a problem with results or when a new test is added to protocol.
The blood samples used at the newborn screening lab in Utah are not used on for-profit research purposes or without the knowledge or consent of parents. Rohrwasser, who has overhauled the production in his two years there, said it is important to be transparent.
Recently, several states have come under fire from parents who believe storing their infants' blood samples is an unethical practice. Rohrwasser said there is a fine line but holds that his facility is merely using the information to save lives.
Like all the testing done at the state lab, newborn screening is important considering the vulnerability of the population it serves, said Atkinson-Dunn.
"When you're talking about someone new to the world, it becomes pretty important," she said.