April Barker
Screening newborn babies gives parents peace of mind. But when one local couple's baby tested positive for a disorder, they say they were crushed at first- but happy to know how to treat their child right away.
Eileen Quinlan, Olivia's Mom
"February 1st, 2005. Perfect delivery, everything was easy, great."
Olivia Quinlan came into the world without a problem, but just 5 days later, her parents got some bad news.
Eileen Quinlan, Olivia's Mom
"I just got this message from an on-call physician that I've never met that said 'Give us a call, there's something wrong with the baby and it's urgent that you call.'"
Olivia was tested for a range of different metabolic disorders- some of the tests are required by law- others are optional.
The Quinlan's opted for additional testing, and that's how they found the disorder.
Olivia was diagnosed with a rare metabolic disorder that prevents her body from digesting protein.
Dr. Deborah Marsden, Children's Hospital Boston
"About 1 in 5000 infants now is affected by some inborn error of metabolism, and if these disorders as a general rule can be picked up in the newborn period before the infant becomes symptomatic then the outcomes are much better."
Even though the news was tough to take, Olivia's parents say they're lucky they had the extra tests done and caught her condition right away.
Dan Quinlan, Olivia's Dad
"The newborn screening got us right onto the fast track of treatment and really bypassing any kind of misdiagnosis."
Olivia was put on a strict low-protein diet, and she's doing great.
Eileen Quinlan, Olivia's Mom
"We're thankful that we were able to have a test, it is treatable, she will grow up and do all the other kids are going to do, but you just have to know to be able to treat it."
Right now the additional tests are part of a pilot study and that's why they're not yet required by law.
(Copyright (c) 2008 Sunbeam Television Corp. All Rights Reserved. This material may not be published, broadcast, rewritten or redistributed.)
