Family with rare condition are recipients of 500th Heart Transplant at GOSH

The team had less than four hours to bring the heart to GOSH and operate on Thomas, then aged 11, to ensure he had the best chance of a successful transplant.

Thomas has Carvajal Syndrome, which in his case meant his heart muscle was too thick and so he was at serious risk of abnormal heart rhythms. It has affected two of Thomas’ three siblings and, as far as they know, they are one of the the only families in the UK to have this rare syndrome.

This morning, Thomas, Lucy, their mum, Khristine and oldest sister Bethany shared their story on the BBC Breakfast sofa.

Parents Khristine and Lee found out they were carriers for the gene for Carvajal Syndrome, when their second eldest daughter, Aliesha, was diagnosed with it, aged five.

At the time, they were expecting their third child, Lucy, and were told there was a one in four chance their children would inherit the condition. Lucy, and later Thomas, were diagnosed with Carvajal Syndrome when they were born. Sadly, at eight years old Aliesha passed away from sudden cardiac arrest.

When Lucy was 14 her health began to deteriorate. She was on the waiting list for just a few days because she was able to receive a donation after circulatory death (DCD) heart, a new technique which increased the donor pool. There were multiple complications and Lucy spent two months on the cardiac intensive care unit at GOSH, before returning home and making a full recovery.

When Thomas then became unwell, as his heart function had dropped to less than a third of normal values, and his family were incredibly worried about a transplant.

Thomas’ operation lasted five hours and he was discharged from hospital within two weeks, with no complications.

A year after his operation, he is now back at school and Lucy is sitting her GCSE’s and would like to train to be a paediatric nurse or a police officer.

The GOSH transplant unit, which was set up by Professor Marc de Leval in 1988, is one of the largest specialist centres in the world. It carries out an average of 25 heart transplants each year for children and young people from across the UK.

Finding a donor match for children is incredibly difficult as the heart must have the compatible blood and antibody type and be the right size, which means that they often need a young donor to save their life.

To help children on the wait list, the team use treatments such as the Berlin Heart, which pumps blood around the child’s body instead of their heart. They also carry out research to try and find ways to match more hearts. For example, a team at GOSH funded by British Heart Foundation and the UCL Institute of Cardiovascular Science developed a technique that helps children receive a mismatched heart with a different blood group, more than doubling the number of children able to receive a heart transplant.

Even with these techniques, there are not enough donors to provide the 53 children waiting on the transplant list in the UK with a new heart. Over the past decade there has been a consistent increase in adult consent rates, child donation rates have remained low, and practically static.

Learn more about organ donation on the NHS Blood and Transplant website.