Usher syndrome, an unseen/hidden disability: a phenomenological study of adults across the lifespan living in England

Usher syndrome is a rare, unseen, inherited genetic disability and is a main cause of acquired deafblindness in the United Kingdom. The aim of this descriptive phenomenological study was to develop an understanding of the experiences of diagnosis and living with Usher syndrome, from the perspectives of adults living in England. The social model of disability and Erik Erikson’s identity development theory provided theoretical perspectives pertinent to deafblindness/Usher syndrome. Individual interviews were conducted with 20 adults, using participant-led multi-sensory communication and interview methods. Communication methods included British sign language, deafblind manual, hands-on signing and clear speech. Interviews were conducted, face-to-face, telephone, email and Skype. Following thematic analysis, the findings revealed that this unseen sensory impairment affects everyday life and future plans, significantly impacting on individuals and their families, friendships, new and existing relationships. These findings are discussed from the perspective of the social model of disability and identity development theory. Points of interest The literature review demonstrates the limited previous research about living with Usher syndrome. The study findings provide an understanding of what life is like for people who experience diagnosis of, and are living with, an unseen condition, such as Usher syndrome, from the perspective of adults living in England. The study findings revealed that although Usher syndrome is not life threatening, the condition affects everyday life and future plans. A diagnosis of Usher affects both new and existing relationships for people across their lifespan.