Seeing as one of my main motivations for this blog is to help raise awareness of liver disease, it seems appropriate to kick off with a quick lesson in jaundice and Biliary Atresia.
Quick disclaimer – all of this comes from our education at King’s and own understanding of the disease. Every case, like every child, is different, so how Hugo presented and what has been through may not be true of others.
Biliary Atresia is a rare liver disease (affecting approximately 1 in 15,000 babies) where there is a lack of bile flow from the liver to the intestines, caused by an inflammation or blockage of the bile ducts. The reduction in bile flow causes damage to the liver, where the acid is stored up, and can also affect the digestion of vital nutrients (for which bile is essential), potentially causing failure to thrive. Despite research into the disease, there isn’t a known cause yet.
The three main signs to look out for in BA are prolonged jaundice, yellow wee (should be pretty much clear in young babies) and pale poo (I’m talking chalky grey/white).
It is relatively common for babies to be born with jaundice (yellowing of the skin and eyes); what isn’t so well known is that there are two types of jaundice. Newborn jaundice (physiological) will usually clear within a couple of weeks, and isn’t an indication of liver problems. However, if the jaundice doesn’t clear in this time, it can be the first sign that there is something more sinister going on.
Once the condition is suspected, there are several tests that are carried out, including blood tests, ultrasound and a biopsy. Once the diagnosis is established, the baby must have an operation called the Kasai, with the aim of removing the affected bile ducts and gall bladder, rebuilding the digestive system and re-establishing the flow of bile from the liver to the gut. The success rate of the procedure is pretty low; about 25-30% of babies will retain their own liver afterwards, with the rest needing a transplant at some stage of childhood.
There are also various other problems that can occur with this liver disease, including cholangitis (an infection of the bile ducts in the liver), ascites (collection of excess fluid in the abdomen), portal hypertension (increased pressure in the blood vessels), pruritus (itching) and failure to thrive.
Hugo was born with jaundice that, following our discharge from hospital when he was born, was never followed up by any medical or health care professional he saw (apart from the standard “just put him in the sunlight”). It was (and still is) clinically pretty mild, however it was there nonetheless. He also had bright yellow wee from a very early stage; something which I asked about but was told it was totally normal. The first time it was suspected that there was something serious going on was when his poo went pale at seven weeks. Suffice to say, I feel devastated that, now I know the signs, I know that the BA could have been picked up sooner.
Once the alarm bells rang with the GP, his diagnosis and resulting treatment happened very quickly. He had his Kasai at ten weeks, and the assessment from the surgeon after was that, although the damage sustained by the liver was consistent with the bile building up from day one, he was relatively positive about Hugo’s chance of keeping his liver. Unfortunately, Hugo has suffered some of the complications mentioned above (to date, cholangitis and ascites), and his regular liver function tests are showing a progressive decline, rather than improvement. Everything seems to be pointing towards Hugo needing a transplant.
The specialists can never say for sure that Hugo’s prognosis would have been any different had he been diagnosed and had his Kasai earlier; I’m convinced that the early signs being missed has made a difference. I would urge all parents to learn and remember these signs, as the effective treatment of Biliary Atresia is time critical. Early diagnosis and treatment is so, so important. So please, spread the word. We are proof that you can’t always rely on the professionals to know it themselves. But that is a topic for another time.