VANCOUVER-- In BC, about 15 newborns each year are diagnosed with serious metabolic disorders that are discovered through screening. But there are hundreds of these types of inherited disorders and we currently test babies for only 4. Now, Ontario is expanding its program from 2 to 21 disorders and some US states are testing for much more than that, so what will BC do next?
Mother Sharon Jamieson says, "If they hadn't caught it then, chances are some kids die by day 10."
Thomas Jamieson is a healthy 10 year old, but as a baby he had a very close call. When he wasn't thriving, doctors checked his newborn screening test and realized he had galactosemia, an inherited condition that affects one in 50-60 thousand children.
Sharon comments that glactosemia is when your body can't metabolize the sugar galactose, so it enters your body as a toxin to your major organs, your brain, liver and eyes."
Galactose is found in mother's milk and in many infant formulas. So by breastfeeding Thomas, Sharon was unwittingly putting him at risk.
Sharon says, "I was basically poisoning him. What I tell people because it was unknown, we didn't know he had it."
Galactosemia is one of four treatable disorders currently screened for in all newborns, and while testing has made all the difference in the world for affected families, the question is why don't we screen for more of these rare but very serious conditions."
Dr. Hilary Vallance, Director of Biochemical Diseases and Newborn Screening program at BC Children's Hospital, says, "it really boils down to whether early diagnosis improves outcome."
Dr.Vallance says these new tandem mass spectrometers are capable of testing for more than 20 different metabolic disorders. She says there a lot of things to consider before widening the screening program.
Dr. Vallance says the downside is if we screen too many things then the false positive rate goes up, may be alerting doctors and it turns out it might be nothing.
Things you should be avoiding are mainly dairy products, like cheese and milk. By simply avoiding the sugar galactose, Thomas has managed to avoid any damage from his metabolic disorder. His family wants others to benefit too.
Sharon Jamieson says, "I think newborn screening is very important. Newborn screening saves lives, it should be done."
It's likely the screening program will be widened once the committee looking at the program and related studies make its recommendations, likely within the year. That may mean we'll be able to pick up another five children a year with treatable disorders.
Friday September 30, 2005
