Updates:

Ontario to Screen Newborns for More Diseases. With the hard work of many parents, the Ontario government is finally adding 19 newborn screening tests, for diseases and genetic disorders.

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Matthew’s Case with the College of Physicians and Surgeons.

Ontario to screen newborns for more diseases

Canadian Press

TORONTO — The Ontario government unveiled plans Wednesday to test newborns for 19 additional diseases, earning calls for a national baby screening program and grudging approval from parents who fear the province's program remains incomplete.

The changes come after Ontario's ombudsman launched an investigation last month into the program, which originally only screened for two diseases and was long cited as the poorest one of its kind in Canada.

But Wednesday's announcement, likely to add fuel to an escalating national debate about the value of comprehensive newborn screening, sparked fresh calls for a Canada-wide program to ensure every baby in the country gets the same chance at life.

It's wrong that a child in one part of Canada could be saved by a simple test while another child in another province could die from the same disease, said Tammy Clark, founder of the Save Babies Through Screening Foundation of Canada.

Clark's nine-month-old daughter Jenna died in 2002 of a disorder called MCAD, in which a person's body can't break down fats. It could have been diagnosed with a simple test costing about $40 and managed with a careful diet and treatment.

"It should not be baby roulette, or winning the baby lottery," Clark said in an emotional interview from her home outside Ottawa.

"It shouldn't be that those in Saskatchewan that have MCAD are living normal healthy lives, in the meantime I have to go and visit my daughter at the cemetery. This is not right."
Starting next year, Ontario will now test for a total of 21 inherited metabolic disorders that relate to malfunctioning enzymes, including MCAD, or problems with hormone production.
These rare disorders, which aren't easily diagnosed through symptoms, mean a child can't process fat, protein or amino acids. If left untreated or unmanaged, they can result in severe disabilities and possibly death.

But some parents complained that tests for blood diseases such as sickle cell anemia or endocrine disorders, which are tested for in other provinces and U.S. states, weren't included in the changes.

"Ontario is so far behind in newborn screening that this is a useful baby step, but there are significant gaps in this announcement," said John Adams, a parent advocate for newborn screening who is involved in several organizations pushing for more tests.

"The most important gap is that a whole host of disorders, called blood disorders, have been forgotten and omitted."

The change puts Ontario third behind Saskatchewan, which tests for 29 disorders, and Quebec at 28, Adams said. Nova Scotia and Prince Edward Island each test for nine.

But New York recently expanded to 44 tests, while California tests for 75, although many of those are closely related disorders, Adams said.

Health Minister George Smitherman acknowledged the complaints, but insisted the government's expert panel isn't yet finished examining newborn screening and said more tests could be added in the future.

"You want to talk about New York and 44? Until this morning Ontario was at two, now we're at 21," Smitherman said. "By my measure, that's a heck of a good leap forward while acknowledging that there will always be room to do more."

It's the first time the newborn screening program has been expanded in 27 years.

It will cost $2 million to bring in the complex machines that do the additional testing, and about $2 million a year to pay for the expanded program, Smitherman said. The machines are expected to be operational by next March and tests will be phased in.

Ontario Ombudsman Andre Marin said his investigation into the program will continue despite Smitherman's announcement Wednesday.

Instead, it focuses on two big issues, Marin said: why certain diseases were left out of the screening program, and precisely when the new testing will begin.