Usher syndrome: A phenomenological study of adults across the lifespan living in England

Usher syndrome is a rare inherited genetic condition which is one of the main causes of acquired deafblindness in the United Kingdom (UK). Although the condition is not life threatening, it is life altering and will have a significant impact on the lives of not only the person diagnosed with the condition, but also their families, friendship groups and new and existing relationships. The aim of the study was to develop an understanding of the experiences of diagnosis of and living with Usher syndrome, from the perspective of adults living in England. Specific objectives of the study were to explore the experience of being diagnosed with Usher syndrome; explore the transition from adolescence to adulthood for people who have Usher syndrome; to develop an understanding of the experience of living with Usher syndrome, including support, developmental opportunities and the role of the Deaf community; to disseminate original findings; inform future practice, service development, policy and education and make recommendations for further research relating to the experience of living with Usher syndrome. To address these aims and objectives, this qualitative, descriptive phenomenological study, conducted interviews with 20 males and females aged between 18-82 years from a variety of demographic locations. To contribute to the trustworthiness of the study, I developed a methodological innovation called ‘Multiple Sensory Communication and Interview Methods’ (MSCIM) which ensured that as far as possible communication and interview methods were participant led. Three overarching messages from findings were revealed: the importance of ensuring communication is timely, supportive and appropriate; Usher support at the right time: providing physical and virtual support networks and essentiality of Usher awareness: raising the profile. This study is unique because it is the first qualitative, descriptive phenomenological study to demonstrate new knowledge to better understand and support people living with Usher in England. Keywords Usher syndrome, sensory impairment, D/deafblindness, ‘Multiple Sensory Communication and Interview Methods’ (MSCIM), social work, qualitative research, descriptive phenomenology