In July 2019 me and my partner, Richard, welcomed into the world our first baby, little Lawrence, he was perfect in every way.
When he was about eight weeks old, our health visitor mentioned that he was yellow and so we took him to our GP who dismissed us and said all was OK. However, when we took him for his 12-week vaccines, we saw a different GP who was not happy with his colour, and referred us to our local hospital. After many hours waiting around and lots of blood tests, we were told he had very high bilirubin levels and were referred to Kings College Hospital London the next day. We couldn’t understand the urgency, as nothing had been explained to us.
On arrival at Kings, there were more tests and scans. I was told I had to stop breast feeding, which broke my heart, and Lawrence was put on a special formula milk. We were desperate to find out what was wrong with our baby boy but the tests for biliary atresia came back negative and we left the hospital after two days with still no answers.
A couple of weeks later we were called back to Kings to meet with a consultant who was able to tell us that Lawrence had Alpha 1 Antitrypsin deficiency, a type of liver disease which is genetically inherited. As soon as we had this information, we frantically researched into the condition making ourselves sick with worry that he could need a liver transplant. After we managed to digest this information, we then had some more bloods done. A few months later, we were informed of Lawrence’s low platelet count which puts him at risk of portal hypertension – again not what you want to hear. Thankfully they subsequently went up and all seems stable at the moment.
Although the staff at Kings had told us about CLDF at one of our early appointments, I didn’t make contact straight away. To be honest I found it really difficult at first to accept Lawrence’s condition and I was just looking at all the worst-case scenarios and getting myself in a bit of a state. It was when I realized that I needed support and reassurance that I got in touch. I spoke to a wonderful lady called Kate who helped us tremendously and gave us a lot of useful information.
Lawrence is now six years old and is doing amazingly well. We’ve been having six monthly appointments alternating between King’s College and Southampton which Lawrence accepts and as a true warrior is so brave! He had an endoscopy in August last year due to the high risk of portal hypertension and will require these every year, which I have to admit is a scary thought. And at our last appointment at Kings we were told that his condition had got progressively worse and so the close monitoring will still be in place.
We are also dealing with some challenging behaviours which may or may not be linked with his Alpha1, but I’m happy to say we have a lot of support in place at school with an awarded EHCP in place. As far as learning and developing is concerned, he’s doing really well and he is such a smart and curious young boy who we are extremely proud of.
Last year, we welcomed our second child, Lannister , who has just turned one. Lawrence absolutely adores him and loves being a big brother.
I feel that when Lawrence is older and we have explained his condition that he will definitely benefit from building relationships with other young children who have similar conditions and it’s great to know he can meet those children through CLDF.
Liver disease in children was never something we had thought about. It’s hard to spot those signs as a first-time mum, particularly when having a baby in itself is such a shock to the system. I now know that a lot of GPs have very little knowledge when it comes to childhood liver conditions – some had never heard of Alpha 1. So greater awareness of the dangers of prolonged jaundice is something I would really like to see and I hope that sharing our story goes a little way towards that.
Thank you Louise, your story takes me back to our daughter’s experience in 2004; she was also eventually diagnosed with Alpha-1. She is now 17 and doing a school research project on prolonged jaundice in infants! She was ill as a baby but now is extremely healthy. We always told her that she should avoid cigarettes and alcohol when an adult and she has absorbed that and taken it on as part of herself. CLDF has been wonderful for her – and us – growing up, I would recommend going to events and meeting other families. Thank you for sharing your story.