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
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.
Usher syndrome, sensory impairment, D/deafblindness, ‘Multiple Sensory
Communication and Interview Methods’ (MSCIM), social work, qualitative research,