2 years ago
(NBC) -- Newborn screening tests check for as many as 54 metabolic and genetic disorders. Many of them are treatable as long as doctors and parents know what to look for. Still, one test that's not done everywhere is saving lives.
Daniel and Emily Voudren both come from large families so it was only natural to add to their family of four. Emily's third pregnancy was no different than her first two. When Noah was born eight months ago he seemed alert, awake and healthy. "We pretty much went home and thought everything was fine we and got a call, I think it was the following Monday so a couple days afterward, that something had come back positive on his routine newborn screenings," recalled Emily Voudren. An additional test confirmed Noah has MCAD, a fatty acid oxidation disorder that doesn't allow the body to convert certain fats into energy. It can lead to hypoglycemia, or low blood sugar. "The main symptoms are lethargy, sleepiness or tiredness, they become clammy, they become more unresponsive and as that unresponsiveness progresses, then they go into a coma and the potential is there for death," explained physician's assistant Patrick Killeen. Twenty-five percent of children with MCAD die from their first illness, and it's the leading cause of Sudden Infant Death Syndrome. Noah was just one month old when he had his first attack. There is no treatment, which means extra vigilance, making sure Noah never misses a meal, even when he doesn't want to eat.
