We are hoping to raise more money and awareness for this charity which is so close to our hearts. Our beautiful girl is doing so well and really is the bravest 2 year old!!! She has to go through so many test and injections and still always manages to smile and makes us laugh. She's a super star. If we can get any closer to helping improve treatment for this condition it is all worth it. Please help us if you can. Thank you xx
Background: Eleanor wasborn 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 ofa long journey and we discovered that Eleanor liver functions were all over the place and her vitamin levels were extremely low. It wasn’t until May 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. 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 7 different types of medication every day.
In the summer of 2018 she was being fed through a nasogastric tube (tube that goes in to the nose, throat and in to her stomach) to ensure that she got essential fats that she could break down in her body. Later on in the year, she under went a surgical procedure -
Percutaneous endoscopic gastrostomy (PEG), this essentially is a tube that goes in to her stomach through the abdominal wall instead of her nose.
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 have 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 1 day find a cure. Please donate generously to this great charity, any amount will make the biggest difference.
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