Lab technician braves blizzard for results that save newborn's life
Eight-week-old baby had rare genetic disorder
By Mary Saladna
BOSTON - A baby just a few days old had a condition that could have killed her and her parents had no idea how bad it was, but an act of heroism in the middle of a blizzard saved her life.
Eight-week-old Juliana Salvi is the picture of health today, but she was born with a rare genetic disorder that almost killed her: Galactosemia -- a severe allergy to milk. “Unknowingly we were feeding her milk. Because she's a baby,” Charlene Salvi said. “Basically it was poisoning her.”
Just hours after mom and dad brought her home, Juliana became very sick, and her parents would have never known what was wrong, if it hadn’t been for Juliana's newborn screening and a small group of lab workers who realized how critical that screening can be. Juliana was born during the January blizzard, and when UPS postponed deliveries for safety reasons, lab workers, like Melody Rush, made the drive themselves to 25 local hospitals to pick up and analyze those newborn blood tests.
“We all worked together to pick up these specimens,” Rush said. “It was a nice feeling knowing it made a difference in that case.” “We were only home for a couple of hours before we got the call from the lab telling us that we need to get to Children's right now,” Mike Salvi said. It saved Juliana Salvi’s life. Just like the program is meant to. “The goal of newborn screening is to identify babies who would otherwise go undetected and with treatable disorders and pick them up before there's irreversible damage,” Dr. Neela Sahai, of the UMass Medical School Newborn Screening Program, said.
“We're just so grateful to, one, newborn screening and, two, that staff that took it upon themselves because they know the urgency of getting back those labs,” Charlene Salvi said.