Infant With Rare Disorder Saved After Lab-Tech Braves Boston Snow

Test revealed newborn had rare metabolic disorder that's fatal if untreated.

March 20, 2015, 12:28 PM

— -- A lab technician may have saved a Massachusetts newborn's life by braving deep snow to ensure routine lab tests were screened on time.

One of the tests revealed a rare genetic disorder that could have led to liver failure or death if Juliana Salvi had remained on the normal newborn diet of milk or formula.

Juliana was born the Sunday before Boston had a near-record snowfall on Jan. 27. The infant's mother, Charlene Salvi, said she noticed the infant was lethargic and slightly jaundiced but didn't think it was out of the ordinary.

"By the time we got home from that, we got an urgent call from both pediatrician and state lab trying to get a hold of us," Salvi said. "She had one of the 30 disorders on newborn screening."

If the lab hadn't taken extra initiative, the test results would have been delayed because a historic snowstorm that blanketed the Boston area in feet of snow stopped the UPS delivery normally used to move lab samples.

Melody Rush, a lab technician run by the University of Massachusetts Medical School, said the lab's director asked for volunteers to pick up tests by hand and deliver them when officials realized UPS wouldn't be running. Rush and other colleagues had to venture onto streets either by car or public transportation soon after a historic snow storm.

“We were able to go out and bring [tests from] 25 hospitals back and test them,” said Rush.

Juliana’s test samples were among those for 30 different babies that Rush picked up. Testing at the lab soon revealed Juliana has a dangerous metabolic disorder called galactosemia.

The genetic disorder means that Juliana lacks enzymes to fully break down a sugar in milk called galactose. The disorder is not just a milk allergy and can be life-threatening. The version of galactosemia Juliana was diagnosed with appears in about one out of every 60,000 births and will result in severe liver damage or death if the diet is not changed.

Juliana’s mother said she noticed her daughter seemed lethargic and slightly jaundiced, but she assumed that was just because she was a newborn. Because Juliana's test was picked up, Salvi and her husband had calls on their answering machine when they arrived home alerting them that Juliana had the dangerous disorder.

“I just started crying. You don’t think you’re going to get a call that your child has one of the rare disorders,” said Salvi.

By the time Salvi and her husband rushed back to the hospital, Juliana’s health had already started to deteriorate.

“She was in crisis,” said Salvi, who said her symptoms were similar to sepsis. “She was in NICU and special care for two and half weeks and [we] removed milk source and got her on correct formula.”

After Juliana started to recover, Salvi said her doctor told her that because Rush and other lab technicians braved the New England weather, the newborn’s lab tests were done on time.

“There’s a few disorders like my child’s and it needs to be treated immediately," Salvi said. "They couldn’t wait to get those labs.”

Rush said she was amazed to find out the following day that one of the samples she picked up tested positive for galactosemia. According to the director of Rush's lab, the results are so rare that the last time a similar test came through the lab was 18 months ago.

“It was a nice feeling that I had made a difference in that baby's life,” said Rush. “It was just luck of the draw. I just happened to find that needle in the haystack.”

Salvi was so grateful to the lab technicians, and especially Rush, that she took Juliana over to the lab for a visit. While Juliana will face additional issues because of the disorder, changing her diet meant her life was saved.

“I’m so thankful,” said Salvi, [for] the fact that they picked it up that day.”

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