Living with Noonan Syndrome: Report of an online survey

This research focuses on the daily realities of living with disability and chronic illness, from the perspective of those whose lives are affected by Noonan Syndrome (NS). NS has an estimated prevalence of 1:1000 to 1:2500 live births. Despite this, it is still sometimes referred to as ‘the most common rare disorder that you have never heard of’. This is something The Noonan Syndrome Association (NSA) are keen to change. They currently support around 600 families living with NS in the UK, providing vital information and a much needed, and valued, network of support for individuals and families. However, the information the organisation provides currently focuses predominantly on medical features of NS as there is little research, to date, into the social and emotional aspects of living with NS for individuals and their families. The overarching aim of this study is to explore families lived experiences of Noonan Syndrome, focusing on perceptions and experiences of social and emotional support, and centering the voices and experience of disabled people and their families in the production of knowledge.