Now 24, Vanessa was diagnosed with Crigler-Najjar Syndrome Type 1 as a child and came to London for her transplant. She shares her story with us.
I was born in Portugal with a rare genetic disease called Crigler Najjar type 1, a severe condition characterized by high levels of bilirubin that is estimated to affect fewer than one in one million newborns worldwide. This disease causes yellowing of the skin and the eyes (jaundice) and can cause a condition called kernicterus that can lead to other neurological problems including involuntary movements of the body, hearing problems or intellectual disability. Type 1 is very severe and without proper treatment it’s impossible to survive.
I was diagnosed days after birth. It’s a very rare disease so the process has always been more complicated. 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 levels and maintain bilirubin levels at non-toxic levels. Although, long term, phototherapy wouldn’t be enough to maintain control of my disease and the unique solution was a liver transplant. At that time transplants were already done to children in Portugal but the perfect solution to my disease was an auxiliary liver transplantation (implanting a healthy liver graft placed either heterotopically or orthotopically while leaving all or part of the native liver) and mine would be the first to be done to a child in my country. In this context, it was considered that is safer to be transplanted in a hospital with more experience in this type of disease and transplantation.
My doctors and family were incredible and I moved to England in order to enter the list and wait for transplant since my parents were not compatible with me. I received 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 use pajamas like the other children (due to the phototherapy that was not possible). I was more excited than afraid maybe because children aren’t aware of the reality as adults are. My auxiliary transplant was done at King’s College Hospital and I can’t thank the team enough. It was a good experience (despite of the recovery) because the doctors, nurses and auxiliaries were amazing with me. King’s College also has animators 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, such as playing, drawing and learning English with the professionals.
After a while, post-transplant, my life became pretty normal. Of course, I always had to take medication and be more careful than the other children and teenagers but I always felt free to live my life. Over the last few years I have always been accompanied in Portugal and England and everything has been going well. However, when it marked the 15th year anniversary of my liver transplant I had some complications due to a kind of rejection maybe originated by some changes with my medication. Although it was a very difficult period, my liver survived this episode and is now 18 years old.
Nowadays I’m 24 years old, I have a degree in Communication Sciences and I’m almost finishing my Marketing and Advertising master’s degree. I think it’s a long road, not so easy as being healthy, there is more fear, more anxiety and more side effects, but it is what it is and like Henri Matisse said “there are always flowers for those who want to see them.” Also, I feel that I’m a stronger and more grateful person due to my history. For the worst days I think online support groups are an essential help, it’s an amazing help to talk with other people with a similar history, share experiences and concerns.
I never met my donor’s family because of some legal conditions. Despite that I’m forever grateful to my organ donor. Organ donation saves lives and my donor saved mine and gave me 18 amazing years until now. Also, I’m forever grateful to my Portuguese and English doctors, they’re amazing, and the link between the two health systems made everything as safe as possible. Portugal is my home but England is my second one.
