As a research hospital, GOSH aims to embed research in every child’s clinical care. It is committed to the discovery of novel treatments and cures for the most complex of illnesses, benefiting children here in the UK and worldwide. In collaboration with Duke University Hospital, North Carolina, GOSH has been delivering a pioneering treatment for immunodeficient children with Complete DiGeorge syndrome, through the Thymus Transplant Programme. DiGeorge Syndrome is a genetic, primary immunodeficiency affecting approx. 1 in 4000 births, most often resulting from chromosomal 22q.11 deletion, with a spectrum of clinical severity. The most severe form is characterised by athymia, the absence of a thymus gland, and is known as Complete DiGeorge Syndrome (cDGS).

Families come to GOSH from all over Europe to receive Thymus Transplants and to date, 36 transplants have been performed for children with cDGS and similar athymic disorders. As the service and numbers of children transplanted have grown, it has become apparent that due to the rareness of the condition and treatment pathway, both families and other clinical services have little information available to prepare them for the journey. The majority of information, which is available, is also scientifically presented and not ideal as an introduction to care for families.

Utilising parental experience through carefully designed questionnaires, specific needs and key areas of information are identified. While analysis is ongoing, preliminary findings support the development of a patient information booklet purposefully designed to explain the complex care and treatment pathway the children will follow. Through advance education of families and clinicians, research suggests families will have improved expectations and experience, with reduced levels of anxiety.

Evaluation of the information will be conducted post distribution with new and current families undergoing treatment and will contribute to future studies, considering the ongoing experiences of families undergoing thymus transplants.