Parent’s perceptions of interactions with health professionals in the pathway to gaining a diagnosis of tuberous sclerosis (TS) and beyond

This paper presents selected findings from a qualitative study on the lived experience of young people with tuberous sclerosis (TS) and their families. In-depth interviews with 109 participants from 40 families were undertaken. This paper presents the findings in relation to parents’ interactions with health professionals before, during and after a diagnosis of TS was given. The majority of parents recalled examples of both positive and negative experiences with health professionals. Negative experiences included having to ‘fight’ for the recognition of symptoms and the reluctance of doctors to move on beyond a diagnosis of epilepsy. Attributes valued by parents pre-diagnosis included health professionals showing understanding at diagnosis, flexibility, support, accessibility, time and attention, honesty, reliability, sensitivity and post-diagnosis a willingness to find out and share information and to consult colleagues and other professionals. The interviews indicated that these were not always demonstrated by professionals.