Four years ago, Tammy Clark’s nine-month-old daughter, Jenna, died suddenly in her arms during what her paediatrician said was a bout of the flu. The flu was indeed present, but so was an undetected disorder known as medium-chain acyl-CoA dehydrogenase deficiency or MCADD — a condition that prevents the body from breaking down certain fats. The flu caused Jenna to lose her appetite, triggering the MCADD nobody knew she had until the autopsy. Had Jenna’s condition been detected at birth through blood screening, her health could easily have been managed through diet.
Since her daughter’s death, Clark has been trying to make sense of what happened and why it’s still happening to other babies. In 2005, Clark founded the Canadian chapter of Save Babies Through Screening to help other parents avoid a similar tragedy. She tells hushed audiences that had Jenna been born in Nova Scotia or British Columbia where screening for MCADD is standard, instead of in Ontario (where at the time it was not), she would likely be alive and well. “It’s hard for us to accept that a simple blood test could have spared us a lifetime of heartache.” From her Ottawa home, Clark now lobbies governments for a national universal newborn-screening program for the 337,856 babies born each year in Canada.
Screening babies for hereditary diseases began in Canada in the early 1960s when researchers found that analyzing a drop of blood from a newborn’s heel can detect phenylketonuria — commonly known as PKU. This inherited metabolic disease affects one in 15,000 babies and, if not detected before symptoms are apparent, can lead to severe developmental disabilities.
Soon paediatricians started using that same blood spot to screen for selected hormonal and blood conditions. And with the dawn of a new technology called tandem mass spectrometry (TMS) in the late 1980s, the PKU spot could suddenly be screened for dozens of inherited disorders.
But technology met politics. Health care in Canada is a provincial responsibility. Provinces had set up their own testing programs — often based on how much they could afford to spend on the screening and the follow-up. The result? A spotty and often dismal record of diagnosing and treating newborns.
The need for universal newborn screening in this country was thrust into the spotlight when William Hanley, a renowned geneticist at Toronto’s Hospital for Sick Children and a pioneer of Ontario’s earliest screening program, wrote “Newborn Screening in Canada — Are We Out of Step?” in the April 2005 Paediatrics & Child Health.
“Canada is far behind the rest of the developed (and some ‘emerging’) countries of the world in the field of universal newborn screening,” Hanley wrote. Belying Canada’s oft-touted government-funded universal health care, he revealed the stark disparity among provinces in what they screened for, highlighting one case where an apparently healthy two-year-old boy went into a coma and suffered “significant brain damage” from an inherited disorder that was triggered by a mild viral infection. The child’s condition was not screened for in his province.
Hanley also cited studies proving that detecting diseases through TMS screening was cost effective. US research has shown that because screening leads quickly to an accurate diagnosis, treatment is correct right off the bat, saving the time and money associated with trial and error.
To hammer the point home, in June 2005 Hanley sent David Butler-Jones, Canada’s chief public health officer, a copy of his article and argued that “a Canada-wide uniform panel of screening tests…should be advocated and funding be made available for follow-up and long-term treatment.” The response from the government to such correspondence: Sorry, we can’t afford it. But many believe that a national strategy is something that Canada can’t afford not to have.
One aspect of Hanley’s study that caused an uproar in Ontario was the province’s ranking at the back of the screening pack with its testing of only two disorders. Saskatchewan was in first place, testing for 30. In September 2005, after investigating a half dozen suspicious newborn deaths, Ontario’s provincial ombudsman issued a scathing report that slammed the Ontario Ministry of Health and Long-Term Care for its “stunningly dismal, even shameful record” of allowing up to 50 newborns to become disabled or die every year because its “newborn-testing program has stagnated.” (For a sampling of what’s tested, see Diseases Screened by Province PDF chart.)
By that time, Ontario had already begun a wholesale revamping of its system and, by December 2006, will test the province’s newborns for 27 rare disorders.
Other areas are getting the message too. In June 2005, the Calgary Health Region became the first jurisdiction in Canada to screen newborns for cystic fibrosis (CF). In March this year, New Brunswick announced plans to expand its screening program from two to 11 diseases.
The big screen
Although TMS greatly eases newborn screening, there is some debate over which disorders it should look for. In the absence of national standards, each province uses its own combination of resources, expertise and facilities to decide. Some questions are difficult: Should we screen for diseases we can’t treat? What about disorders that may not progress enough to harm the child? Should parents have the right to refuse screening for untreatable disorders?
The US has already grappled with many of these questions. When confronted by the screening disparities among states, the US federal health authority struck a task force to establish some uniformity. This resulted in a group of 29 recommended “core” conditions. Hanley and other experts have strongly urged the Canadian government to accept the US results rather than repeat the whole process.
Tracey Bowness, of Lower Sackville, NS, would agree. Her three-year-old daughter, Megan, is thriving thanks to early diagnosis of her MCADD — the same condition that killed Tammy Clark’s baby. Since the screening caught the disorder, the Bownesses have had their crises, whenever Megan catches “a bug,” but they know what to do.
Sue Armstrong-Buttrey of Spruce Grove, Alta., credits persistence and luck with the survival of her 10-year-old son, Matt. He was born with VLCADD, an extremely rare condition, similar to MCADD, that prevents his body from breaking down specific fats. Left untreated, VLCADD (not screened for in Alberta), can quickly result in coma and death.
At 10 months, Matt suffered heart failure when a severe bout of illness triggered his undetected VLCADD. Now he’s on a low-fat diet and receives nightly feedings through a surgically implanted gastric tube. Matt has not suffered any long-term effects from his tumultuous early years. “You have to go with your gut feel,” states Armstrong-Buttrey. “When Matt had his first crisis, if we had listened to the on-call doctor [in the hospital] that night, he would have been dead. We were persistent, so the doctor sent us to an Edmonton hospital, where the paediatrician picked up right away on what was wrong.”
But such stories do not always end on a happy note. That’s why Tammy Clark and other advocates are telling expectant parents not to wait for universal screening. Instead, she recommends ordering screening kits from the US for their doctors to use when their baby is delivered. Blood spots can then be sent back to US laboratories for analysis. Clark says the fees, from $25 to $89 US, are well worth the investment. “It is shameful that the health of Canadian babies must rest with US testing facilities, but early diagnosis allows babies with most of these disorders to live better-quality, healthy lives.”