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Science

Alberta to introduce cystic fibrosis screening for newborns

Alberta becomes the first province to test newborns for cystic fibrosis, as evidence shows early detection of the genetic disease can lead to better health and quality of life.

Albertabecomes the first province to test newborns for cystic fibrosis, as evidence shows early detection of the genetic disease can lead to better health and quality of life.

In Canada, one in 3,600 babies will develop CF. Currently, 60 per cent of children born with CF are diagnosed in the first year, often after symptoms are spotted and lung infections may have occurred.

Under the province's new screening program, which beginson Sunday, blood samples will be taken from every newborn to test for the disease.

Jake Szatmary, 5, was diagnosed within his first year, but the family said they went through three horrible months whenthe newborn was sick, malnourished and undiagnosed.

Like others with CF, Jake now receives enzymes to help him digest food, a device to pump medication to his lungs, and clap therapy two, 20-minute sessions a day of back slapping to loosen mucus that builds up in the lungs.

"There was lots of issues for the first three months that probably deteriorated his lungs and affected him," said Jake's father, Rob Szatmary, of Calahoo, Alta., about 35 kilometres from Edmonton.

The province now aims to have children into treatment within their first month.

If the disease is diagnosed and treated earlier,the childreceives more nutrients, shows improvedlung function and grows taller, said Martin Somerville, director of medical geneticsat the University of Alberta.

The Canadian Cystic Fibrosis Foundation hopes Alberta's move will help persuade other provinces to test all newborns.

Ontario will also begin screening within the next year, partly because the test is now more accurate.

"That means they decrease the number of false positives and decrease the chance of missing an affected child," said Dr. Joe Clarke of the Ontario advisory committee on newborn and childhood screening.

Other provinces are considering the test.

There are concerns that someone who carries the gene but doesn't have the disease could be wrongly diagnosed. The screening could also fail to detect about 10 per cent of children with CF.