Biliary atresia

For a long time, no diagnosis could be made of what was wrong Alex. The doctors had a long list of possible causes of his liver problems. With a large number of tests, scans and other examinations they attempted to find to true cause. In the end the most probable cause turned out to Biliary Artresia.

Biliary atresia is a rare disease. There are approximately 10 cases per year in The Netherlands.Biliary atresia is a childhood disease of the liver in which one or more bile ducts are abnormally narrow, blocked, or absent. A bile duct is long tube-like structure for the transports of bile. Bile is secreted by the liver. It is required for the digestion of food. If the bile ducts do not work properly, or are not there, bile is unable to leave the liver and builds up inside of it. Nothing is known about what causes it and there are few treatments.Bile contains bilirubin. When the liver is unable to excrete bilirubin through the bile ducts, bilirubin begins to accumulate in the blood, causing symptoms. These symptoms include yellowing of the skin, itchiness, poor absorption of nutrients (causing delays in growth), pale stools, dark urine, and a swollen abdomen. Yaundice, the yellowing of the skin and the eyes, two days after being born was the first sign something was wrong with Alexander.It is not the bilirubin that is the biggest problem. Although when the level of unconjugated (non-processed) bilirubin gets too high, it can cross the brain threshold in infants, and cause permanent brain damage. This was never the case with Alexander. The biggest risk is the other toxins and the bile can’t be processed, and remain in the liver. This leads to scarring, and finally total collapse of liver function.For children with biliary atresia, there are only two options. The first is an ingenious operation that connects the intestine directly to the liver, allowing for the draining of bile. The only other option is a new liver.Atresia is a fancy word for absence. Alexander was born with bile ducts, but they started disappearing soon after he was born. This was incredibly confusing for medical staff, as all chemical tests resulted in nothing. Various echos and scans were inconclusive; mainly because in newborns the bile ducts and gallbladder are so small they rarely show up. The only way to see anything was to perform surgery, and extract a part of his liver. This operation was performed a month after his birth. Surprisingly, it showed he still had bile ducts, and barely any scarring of the liver. The bile ducts hadn’t degraded enough yet, and the liver was still going strong, despite all the circumstantial evidence. We went home, and would return for tests two weeks later. What we thought was a routine checkup turned into an extended stay, involving genetic tests and the lead up to possible major surgery.