A happy story with Crigler Najjar type 1

The story of Vanessa

I was born in Portugal with a rare genetic disorder called Crigler Najjar Syndrome (CNS) type 1, a serious condition affecting the liver. CNS is characterised by high bilirubin levels and is estimated to affect less than one in a million newborns worldwide. This disease causes yellowing of the skin and eyes (jaundice) and can cause a condition called kernicterus which can lead to neurological problems including involuntary body movements, hearing problems or intellectual disability. Type 1 is very serious and without proper treatment it is impossible to survive.

As with all rare diseases, the diagnostic process is challenging. Until I was 5 years old I slept under a specific light (phototherapy) in order to control my bilirubin levels. With phototherapy it was possible to control the bilirubin levels and keep them at non-toxic levels. Although, in the long term, phototherapy was not enough to keep control of my disease and the only solution was a liver transplant. At that time, transplants were already being done on children in Portugal, but the perfect solution for my disease was an auxiliary liver transplant (implanting a healthy liver graft placed heterotopically or orthotopically, leaving all or part of the native liver) and mine would be the first to be done on a child in my country. In this context, it was considered safer to be transplanted in a hospital with more experience in this type of disease and transplantation.

My doctors and family were amazing and I moved to England in order to get on the list and wait for the transplant as my parents were not a match for me. I got the call in November. I remember it was a very special day for me, I was very excited because I knew I needed it to have a normal life and I was very excited to wear pyjamas like the other children (due to the phototherapy that was not possible). I was more excited than scared, maybe because children are not aware of reality like adults are. My auxiliary transplant was done at King’s College Hospital and I cannot thank the team enough. It was a good experience (despite the recovery) because the doctors, nurses and assistants were amazing to me. King’s College also has entertainers and they were an essential help to me. I remember some bad moments where I had pain and discomfort, but I also remember funny moments like playing games, drawing and learning English with the professionals.

After some time, post-transplant, my life became quite normal. Of course, I always had to take medication and be more careful than other children and teenagers, but I always felt free to live my life. In recent years, I have always been accompanied in Portugal and England and everything has gone well. However, when it was the 15th anniversary of my liver transplantation I had some complications due to a kind of rejection perhaps caused by some changes with my medication. Although it was a very difficult period, my liver survived this episode and is now 20 years old.

I am currently 26 years old, finished my master’s degree this year and am working as a social media manager. I think it’s a long road, not as easy as being healthy, there is more fear, more anxiety and more side effects, but it is what it is and as Henri Matisse said “there are always flowers for those who want to see them”. Also, I feel I am a stronger and more grateful person because of my story. For the worst days I think online support groups are an essential help, it is an incredible help to talk to other people with a similar story, share experiences and concerns.

I never met my donor’s family because of some legal conditions. Despite this, I am eternally grateful to my organ donor. Organ donation saves lives and my donor saved mine and has given me an amazing 20 years so far. Also, I am eternally grateful to my Portuguese and English doctors, they are amazing, and the link between the two health systems has made everything as safe as possible. Portugal is my home, but England is my second.