Stephanie was diagnosed with Alagille Syndrome, a very rare genetic condition, when she was just 18 months old. She has led a full and happy life and now, as she waits for a liver transplant, Stephanie is determined to stay as fit as active as she can for as long as possible. Thank you for sharing your story, Stephanie
I was born a month premature and was very small. When I was three months old my mum took me to the GP because I wasn’t sleeping, growing or taking on nutrients and I was jaundiced and irritable. He sent me to the local hospital who, in turn, instantly transferred me to King’s College in London.
Initially they were concerned about a heart murmur and found that one of the tubes coming out of my heart was slightly thinner. My liver also didn’t have enough bile ducts. Both these symptoms are characteristic of Alagille Syndrome.
Then when one of the doctors saw me, he immediately said I had an Alagille’s face. Because it’s a syndrome, like Down’s, people with Alagille’s have certain characteristics. My face is more rounded, my eyes are further apart and my forehead is larger. Genetic testing then revealed a mutation in my JAG1 gene – another characteristic and at 18 months I was officially diagnosed.
Itching, the worst symptom, can only be treated with a liver transplant, but I wasn’t bad enough for that. The doctors were more concerned about my heart and thought I might need a stent, but it was OK. I was prescribed pre-digested milk to help get vitamins and minerals inside me and Rifampicin which is also an antibiotic for tuberculosis. That reduced the jaundice and helped a bit with the itching.
At first I had six-monthly checkups, then yearly and various medications were added, including ursodeoxycholic acid and vitamin K. My mum was told to give me whatever I wanted to eat because I needed to put on weight and grow.
My liver function went up and down a bit, but I was OK and my condition was manageable, apart from the itching. My childhood was quite stressful because of it, I’d scratch my face until it bled and much of my skin was scarred. I was very conscious of my arms, hands and my dry skin and would get comments about it, so I wore long-sleeved tops even at the height of summer. Itching also disrupted my sleep, which made concentrating at school challenging at times.
Medication balance
Once I became a teenager I felt more confident and would tell people I had a rare condition which meant my liver didn’t work properly, but that I could do everything anyone else could. Luckily no one was ever unkind. When I got the right balance in medication and was taking it consistently things were good. Hospital visits weren’t a chore but a nice day out. My mum and I would have lunch afterwards and because she never treated my condition as a thing, it wasn’t a thing.
I went to university in UK and the USA for my undergrad, then I moved to Australia for a year. I spent my twenties travelling the world and living my best life! I even hiked the Inca Trail and raised money for the Children’s Liver Disease Foundation. I started a master’s degree in Sports and Exercise Nutrition in 2019, graduating in 2020 with a First and turning my passion in a career. After buying my first home with my boyfriend, and adopting our sausage dog Teddy, I moved from a regular gym and strength training program to CrossFit. I believe my diet and lifestyle was key in keeping my health as good as it has been. I switched to a vegan diet in 2020 and have since competed in a few amateur CrossFit competitions. I was that person who always defied the odds.
I started to get fatigue more often and oesophageal varices were also discovered, I had a lot of pain that I had never felt before and was holding fluid.
I got through the pandemic without catching anything and didn’t even need to shield. Then about three years ago I caught Covid, tested positive for the full two weeks but only felt slight fatigue and flu-like symptoms. Since then everything has changed. My body wasn’t functioning how it used to, I started to get fatigue more often, struggle in the gym and felt more and more ill.
I was going backwards and forwards to the doctors, oesophageal varices were also discovered, I had a lot of pain that I had never felt before and was holding fluid. This had never happened before. I was given medication for both, but things started slowing down and I became frustrated because I thought the medication was to blame.
I had my first FibroScan, then a CT scan because the symptoms continued, I became more jaundice and my Ultrasound didn’t look right. In September 2023 my consultant said we needed to think about a liver transplant. That was wild because no one had ever said that before. I had my transplant assessment in November and I’m now on the list. The transplant clinic is every six weeks and I have monthly blood tests.
Initially I coped well. I’ve never let anything stop me – I’ve jumped out of planes – but I’m now struggling to accept I’m 
sick and have to rest. It feels like I’ve been diagnosed with a new condition. I’m in pain and can feel my liver, that’s never happened before, and my body feels like it has to work so much harder. Even when I’m sitting in front of a computer, grabbing information from my brain is becoming a problem. My fitness levels have always been important for my mental health and I’ve always pushed myself really hard, but I can’t do that anymore. Not that the word ‘can’t’ has ever been in my vocabulary!
Invisible condition
I’m still well enough to do my daily things including CrossFit, but I now have more days where I feel unwell. King’s are amazing and I’m so grateful, but it’s frustrating too. You’re told: “The transplant is a cure for how you’re feeling, but you can’t have it right now”. That’s emotionally draining because you don’t know if it’s going to be in the middle of the night tomorrow or in three years’ time. I try not to think too much about it. My partner is a fixer and wants to help me, but doesn’t know how.
Deciding to share my experience on TikTok was a combination of having an outlet, accept where I am and show that my condition is an invisible thing. You might think I look fine, but I’m not. I also couldn’t find anyone online with Alagille’s so maybe it will help someone who’s struggling or a parent with a child who has it. I’m 31, have got this far and done all these things – I want to show that there’s hope.
If you’re waiting for a transplant, keep doing your daily things until you can’t any longer because you don’t have any control over the transplant list. Having a focus is healthy. Exercise, eat well and talk to your friends and family too. Tell them how you are feeling, it helps you process things better.
And accept help – that’s my top tip.
