A Victoria family credits the province's newborn screening program for helping identify a potentially life-threatening condition in their little girl, just days after she was born.
Emilie Major said when her daughter Marie was born a year and a half ago, they were initally ready to head home later that same day.
"The nurses encouraged us to stay because she hadn't had her newborn screen yet," Major told CTV News Vancouver.
The screening involves taking a small amount of blood from a newborn's heel, and pressing it onto a card, which is sent away for testing. Major said they stayed the night so Marie could provide a sample, then went home.
At first, everything seemed fine. However, six days after Marie's birth, her family noticed a change.
"She started not waking up as much and not seeming as hungry. She started spitting up a lot of her food," Major said.
On that same day, the family received a call that the newborn screening program had detected a metabolic disorder known as galactosemia. The condition means the body cannot process a simple sugar found in foods and milk. Marie's dad, Mike Atkins, says the sugar actually becomes a toxin.
"It actually starts affecting the vital organs - brain, kidney, liver - and it could lead to death," Atkins said.
Galactosemia is one of 24 conditions the newborn screening program tests for, including hypothyroidism and cystic fybrosis. All the lab work for newborns across B.C. and in the Yukon is conducted at BC Women's Hospital in Vancouver. Program director Dr. Hilary Vallance said just over 45,000 babies a year are tested.
"About one in 1,000 babies will be identified with one of these conditions, so that's about 40-45 infants every year," Vallance said.
Early detection and prompt treatment is key. Vallance said some the conditions can lead to sudden unexpected death or irreversible brain damage.
"The baby may actually look perfect at birth," Vallance said. "The doctor may not think the baby has a problem at all. So it can be completely silent, but the damage is happening."
The hospital is hoping to fundraise $650,000 for a new piece of testing equipment for the lab, an immunoassay analyzer, to replace an aging machine.
"Over the years, we've been able to help more and more children, and improve health outcomes for more and more children, through the detection of more conditions," Vallance said.
Marie is one of the children who received that critical help, and just in time, according to her mom.
"Her body had already started shutting down at six days, but because we had that flagged result, as soon as we went to the hospital we knew exactly what to ask for," Major said.
Major said Marie is now on a special dairy-free diet, and is happy and thriving.
"Such a small test made such a huge impact."
