Alpha-1 is a genetic disorder characterised by the need for two faulty genes, one from each parent. Due to the limited understanding of the condition at the time, I was invited to participate in additional tests at King’s College Hospital to support research. I even recall a researcher from King’s College Hospital visiting our family gathering to collect blood samples. During another visit, I was informed that I would likely require a liver transplant in the future. My mother remembers me expressing my determination not to undergo such a procedure.

After that, apart from six monthly hospital visits, life remained largely unchanged for me. However, due to my enlarged spleen, I was advised against participating in contact sports.

Similarly, during my university years, I felt no different from other students. However, following my doctor’s recommendation, I refrained from smoking and alcohol. Whenever people inquired about my reasons, I would simply explain. Honesty with others earned me their respect, and I never felt pressured to engage in drinking.

It was shortly after university that my only significant disappointment in life occurred. I had always aspired to join the Royal Air Force, but I was informed that I was ineligible due to my condition. Consequently, I decided to pursue a career in aircraft design and manufacturing.

 

In 2002, I relocated to Somerset to work for a helicopter manufacturer. It was here in Somerset that I met my future wife. We tied the knot in 2007, and I must admit, I indulged in a glass of champagne after the ceremony. Before starting our family, we requested that my wife undergo testing for alpha-1 antitrypsin deficiency. Fortunately, the results revealed that both of her associated genes were normal. We now have a son and a daughter, both of them are carriers of the condition with one faulty gene (similar to my parents).

In 2012, I visited Birmingham Hospital and met with a consultant there. The consultant informed me that my liver cirrhosis had progressed to the extent that I would require a liver transplant within the next five to ten years. A few years after this diagnosis, I developed ascites, a common side effect, and commenced medication to manage it. As the years passed, I began to experience further symptoms as my liver struggled, including yellowing of the skin and eyes, leg cramps, and temporary memory loss. After meeting with my consultant at the Bristol Royal Infirmary, I was referred for a transplant suitability assessment at the Royal Free Hospital in London. This assessment resulted in me being placed on the transplant list in July 2023.

We were informed that a call could come at any time, day or night, and that I would have to immediately leave everything behind and travel to London for surgery. After being placed on the list, I received three calls, each requiring me to leave my family and travel to London. However, on each occasion, while waiting to undergo surgery, I was informed that the potential donor was not suitable. This left me with a mix of emotions, not only for myself but also for the families who had lost loved ones. Nevertheless, I had to trust the medical staff’s judgment and believe that they were making the best decisions for my well-being.

On receiving my fourth call from the Royal Free Hospital last October, I embarked on another journey to London. This time, I was given the green light and underwent surgery at 9 pm that very night. I spent two weeks in the hospital, receiving exceptional care from the dedicated staff. I am deeply grateful for their support and excellent care.

 

During my stay, a research associate kindly collected samples to support their research into alpha-1 antitrypsin deficiency, and potentially find a future cure. Additionally, I had the privilege of meeting a few student doctors, providing them with valuable insights into the condition.

After my discharge, I made weekly visits to the consultant at the Royal Free Hospital for a month, after which I was referred back to my liver coordinator, Sarah, at the Bristol Royal Infirmary. Currently, I am taking six different types of medication. Although I still have alpha-1 antitrypsin deficiency, the liver transplant has effectively cured me of the effects of the condition. The symptoms that plagued me before the operation have vanished, and I am now on the path to recovery, pushing myself towards being able run 5 km again.

 

I would like to express my heartfelt gratitude to my donor’s family. I am incredibly thankful for their selfless decision to donate their loved one’s liver, giving me the chance to see my children grow up. I genuinely hope that my story serves as a source of inspiration and support for children with this condition, and their parents. My hope is that the research I have contributed to will eventually lead to a cure.

To anyone living with this condition, I strongly advise that you continue to live your life to the fullest and don’t let it hold you back.

 

“Marley’s recovery, however, was incredible.  We were in Birmingham for three weeks when his transplant took place but within these three weeks, he improved and recovered amazingly. He did need a week in our local with Rotavirus but since then, Marley has flourished.  

“He’s making progress in all areas and it’s wonderful to have a happy, healthy toddler, who keeps us very busy. Marley is very sociable. He enjoys chatting and singing, playing football with his daddy and playing with his friends at nursery. He loves cars, planes and trains, fish and cats.  

“We are so grateful to Marley’s donor and family, who made the incredible decision to donate organs and save him. We are also incredibly grateful to all the staff at both Bath Royal United Hospital (Children’s ward) and Birmingham Children’s Hospital (ward 8), who worked wonders to keep Marley well enough to receive his transplant, make his amazing recovery and survive!”  

 

 

 

Since then, Jack has had a few hospital admissions with infections, being more vulnerable due to the immunosuppressants. But overall, he has been incredibly healthy and stable, for which we are obviously incredibly grateful.  People who didn’t know him as a baby won’t think of him as a child with a serious medical condition because he just gets on and enjoys life like most other eight-year-olds. He is truly amazing!  But as his his parents, we remember every detail of what he’s been through although we’re so grateful that he doesn’t.  We hope that his donor family know that they saved our child’s life. We can never thank them enough. 

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.

Alice appeared perfectly healthy when she was born but when she was about six weeks old I took her to my GP because I was concerned about  her enlarged tummy and the fact that she was still jaundiced. He sent us to our local hospital for blood tests and when the results came through we were referred to Kings College Hospital.

After lots more bloods and heartache we were given the awful news that Alice had Alpha I anti-trypsin deficiency. Kings were faultless in the information and care Alice went on to receive over the many years she attended appointments there.

When she was two, Alice became very ill and was admitted to Addenbrookes hospital. We informed Kings who advised us to prepare ourselves for the fact that that Alice may  need a liver transplant. Her illness wasn’t due to her liver initially, it was a urine infection, but after three trips to the GP, they had failed to pick up on this – we were told she had a virus and that we should take her home and give her Calpol. It was only when she started to turn yellow they realised it wasn’t a virus and we were sent to Addenbrookes. The urine infection had gone to her kidneys and her liver had been affected too. Happily after a week’s stay and lots of antibiotics and tests, Alice bounced back.

Since then Alice has gone  from strength to strength. She has always been a very determined young lady – she held down a full time job and four years at Uni at the same time. She obtained a First in her degree in Business and Finance and is now two exams away from being a fully qualified accountant. When she’s not working she enjoys holidays and spending her down time with family and friends.

Alice has just bought her first house with her partner and is very much enjoying making it their home. I have to admit she never sits still –  she is either at the gym, doing Pilates or running. Her new found love is skiing!  I am so proud of Alice, she has so much drive and determination and always succeeds in what she sets out to do.  She is now 28 and attends consultations every year for her lungs and every five years for her liver and does everything she can to take care of herself.

A couple of years ago, Alice undertook the Three Peaks Challenge (climbing Ben Nevis, Scafell Pike and Snowdon in one weekend) to raise money for charity – Alice was fundraising for Children’s Liver Disease Foundation and her friend, Abbey did it for MIND. It’s a daunting challenge but they mastered it and although totally shattered, were thrilled at their achievement. The challenge raised £1470 for CLDF. We are delighted that this will help other young people to cope with the challenges of living with liver disease and I know that Alice has more fundraising planned for the future.

I really hope her story is an inspiration to other young people who live with A1AD.