Having watched her infant daughter endure multiple surgeries, two liver transplants and a brush with death, Vicky Higgins knows how devastating biliary atresia can be. And now health officials in Western Canada are spearheading efforts to battle this potentially lethal pediatric liver disease through early detection.
By the end of the month, Alberta Health Services will routinely screen the blood of jaundiced babies for this rare condition and other types of liver disease. Biliary atresia (BA), a narrowing or blockage of bile ducts, is the leading cause of liver failure among children, and if untreated, can kill a child before the age of three. Many babies are born with jaundice that clears up within days or weeks. Testing is done if the condition persists.
Previously, doctors had to order a special test to identify BA; now, a more detailed version of the general test done to measure levels of bilirubin, the yellowish pigment found in bile, will automatically be done on newborns with prolonged jaundice that can indicate immediately whether they have the condition. It means as many as 1,000 of Alberta's annual 50,000 newborns will be screened.
In 2008, B.C. was the first province to arrange the detailed laboratory testing for jaundiced infants less than six months old.
Perinatal Services B.C. is also implementing a home-screening program. Parents of newborns are given a stool colour card with instructions to check their child's stool every day for the first month. A greyish or pale-coloured stool indicates liver problems. Ms. Higgins discovered in a similar way that there was more to her daughter Daphne's jaundice than met the eye.
"[The doctor] did mention jaundice, but I thought it just took time to clear up," said Ms. Higgins, who lives in Edmonton. "Daphne did a dirty diaper at the doctor's office, and when I changed it, the doctor asked if that colour was normal. I got a blood work order and got it done that day. It was the first time I had heard of biliary atresia."
The yellowing of the skin known as jaundice is one of the most obvious symptoms of BA, which affects one in 19,000 live births in Canada, 20 to 25 newborns per year. If the condition is detected early, babies can undergo a surgical procedure on the obstructed the bile duct that is forcing toxins to back up and damage the liver. That operation, known as a Kasai procedure after the doctor who originated it, has the best success rate if done within the first 60 days. After the blocked bile duct is removed, a loop of small intestine is connected to the liver to re-establish bile flow. If that fails, a liver transplant is needed.
Richard Schreiber, director of the B.C. pediatric liver transplant program, was part of a recent study of BA by the Canadian Pediatric Hepatology Research Group (CPHRG).
Dr. Schreiber, who is also a clinical professor of pediatrics at the University of British Columbia, said the study "looked at all Canadian kids with BA from 1985 to 2002. We identified 350 kids and we wanted to see what was happening with this condition. The most important observation was that almost 20 per cent of Canadian infants [with the condition] were having a delayed diagnosis of BA and a late Kasai operation. As a result, these infants have less than a 20-per-cent chance of living with their own liver and ultimately need a liver transplant."
Even though Ms. Higgins's daughter was diagnosed at three weeks, it was still a rough go. The Kasai procedure Daphne had at six weeks did not work. The first liver transplant did not take. Daphne needed an operation to remove the resulting clots.
As Ms. Higgins and her husband waited for the second liver to arrive, Daphne clung to life.
"They told us to say our goodbyes to her," Ms. Higgins recalled. "They had to move her from the pediatric intensive care unit to the operating room, and they thought she might not make the trip."
Daphne was in hospital for months, riddled with tubes and needing as many as 15 drugs a day. That count is down to a handful as a healthy Daphne readies for Christmas and her third birthday in March.
"A lot of parents don't like seeing their kids suffer – getting poked and giving blood work," Ms. Higgins said. "I often think that hearing my kids cry and complain is better than silence."
Dr. Schreiber and his colleagues have another line of attack in the fight against BA. The CPHRG and the Canadian Association of Pediatric Surgeons have teamed up to form the Canadian Biliary Atresia Registry. "Our plan is to trace every child with BA across the country," Dr. Schreiber said. "We can check that the surgery is done well, that care is standardized. This national collaborative will give opportunity for research and help raise awareness."