Pioneering transplant saves baby Daniel’s life

Is there a greater fear then your child undergoing continual suffering? And is there no greater gift than someone saving them? Stela Pirvu probably ponders over these questions as she recounts the time she brought her son Daniel to Professor Graham Davies and his team from Great Ormond Street Hospital (GOSH), for a pioneering thymus transplant. Daniel Pirvu was diagnosed in early life with complete DiGeorge Syndrome a condition with many complications including immunodeficiency, defects of the heart, thymus and parathyroid glands as well as abnormalities of the palate.

Daniel presented with a range of conditions that led doctors to conclude he had Complete DiGeorge Syndrome with a complete absence of the thymus gland. This essentially meant he had an extremely poor immune system and was vulnerable to many dangerous infections. In fact at one point, Daniel was so ill that his internal organs began to fail and doctors were reserved about his chances of survival. “The life expectancy of children with Complete DiGeorge Syndrome is typically less than two years.” Stela, his mother, explains “When he was first diagnosed I just couldn’t help but cry. The fear of the unknown was at times unbearable.” All doctors would offer was an unrelated bone marrow transplant - a procedure never before performed for a primary immunodeficiency in Romania.

At this point, Stela had described her son’s chances of survival as “extremely low to zero”. A doctor suggested a thymus transplant to Stela but unfortunately such a transplant wasonly availableat two hospitals in the world, GOSH in London and Duke Universityin North Carolina, USA.These seemed inaccessible to Daniel. Luckily Daniel was able to come to GOSH when he was 16 months old after his mother conducted extensive research into thymus transplants, and found Dr Louise Markert from Duke University who put her in touch with Professor Davies.

Professor Davies was conducting research into thymus transplants for children with DiGeorge Syndrome at GOSH at the time, and immediately identified the urgency of a transplant for Daniel. “The thymus gland is a ‘school’ for the immune system” he explains, “through the thymus gland the immune system develops and is ‘taught’ how to recognise and attack invading germs but not the body’s own cells.” The procedure for the transplant was a long process which involved cultivating slivers of the thymus in a laboratory for a number of weeks and then placing them into Daniel’s thigh muscles. “The recovery of the immune system after a thymus transplant is slow,” Professor Davies continues, “it can take months for it to start working.”

Daniel’s recovery from the transplant was particularly slow due to complications from a BCG (tuberculosis) inoculation he had been given as a baby. However, his immune system has begun to show signs of improvement and Prof Davies is optimistic about the transplant’s long term success.Although Daniel still suffers from the additional complications linked to DiGeorge Syndrome, he has remained stable and free of significant infections since his return home last year.

“He is a very active, cheeky and happy little boy. Full of curiosity and life he loves listening to music, interacting with nature and numbers, and loves hugs and cuddles.” Stela lovingly says. Now 3 years old, Daniel’s future looks bright and his family remains to be hopeful and positive about his future.

Stela praises the work of ProfessorDavies and his team. ‘I honestly have no words to describe Dr Graham Davies and express his interest. Of course he is very dedicated to his work and highly professional ...but even above that he has an extremely kind and generous heart. To us he is the Doctor that saved Daniel’s life, and I cannot think of a way to describe how thankful we are that we had the chance to meet him.’

Professor Davies asserts that “Children needing thymus transplants are rare. It is a complex procedure that requires highly specialised laboratory facilities. We were fortunate at GOSH, as when we were setting up the programme we had gene and cell therapy programmes which use the same facilities. Without these and the supporting team at GOSH we would not have been able to conduct this research.” Prof Davies plans to continue to provide these transplants in the future and hopes to expand it to include those who do not suffer from DiGeorge Syndrome, yet lack thymus function for other reasons.

Daniel and Dr Graham Davies

Daviesis a consultant paediatric immunologist at Great Ormond Street Hospital and an honorary Professorin Paediatric Immunologyat University College London, Institute of Child Health.

Great Ormond Street Hospital in London is recognised as one of the few truly world-class hospitals for children. GOSH is a world-leading research centre, conducting research into areas including rare diseases, cancer, genetics and immunology. In partnership with University College London (UCL) Institute of Child Health (ICH) GOSH is one of the top five research institutions for children in the word. GOSH is the only academic Biomedical Research Centre in the UK to be dedicated to children’s health and between 2010-2014, GOSH/ICH research papers had the highest citation impact of any of the top children’s hospitals in the world, as reported by Thomson Reuters. GOSH also places great emphasis on the support and care provided for children by nurturing an open and supportive atmosphere, ensuring that parents and patients are well informed and closely involved in the treatment process.