On the 9th September Dan, Andrew and Emily will be running the Great North Run for the Children's Liver Disease Foundation.  Eleanor was born on 22nd October 2016, weighing a healthy 6lb 9oz. She tracked her centile for the first 3 months, however it wasn’t until she had nose bleeds that we had her referred to a Consultant for blood tests. This was the start of a long journey and we discovered that Eleanor's liver functions were all over the place and her vitamin levels were extremely low. It wasn’t until May 2017 when she had a genetic test – an agonising 13 weeks wait confirmed that she had an extremely rare liver disease called Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC 1). This basically means that a protein that controls the normal balance of bile acids is disrupted and the build-up of the bile acids causes scarring of the liver which eventually leads to liver failure and ultimately a transplant.  In addition to this, she suffers from malabsorption of vital vitamins that include A, D, E and K; she has elevated bilirubin levels (jaundice), severe itching due to the bile salts being deposited in to the skin (an itch that doesn’t go away). Without any medical intervention, Eleanor wouldn’t survive past the 1st decade of her life. Hence, to maintain her weight and vitamin levels she needs 6 different types of medication every day.

Currently, we attend Leeds hospital (1 of only 3 specialist children’s liver hospitals in the UK) and Eleanor is the only patient that has type 1 PFIC there. Since the disease is so rare, there are only 2 pharmaceutical companies in the world that are specifically holding clinical trials to help minimise the effects of the faulty gene.

The liver charity has been great, they support families that are going through what we are experiencing right from the start, they provide invaluable information about the liver diseases and most importantly they fund new research to hopefully one day find a cure. Please donate generously to this great charity, any amount will make the biggest difference.