Usher syndrome is an autosomal recessive genetic mutation, and the most prevalent type of acquired deafblindness. Usher syndrome type I is characterized by congenital deafness and retinitis pigmentosa that leads to the progressive loss of vision due to retinal degeneration. Usher syndrome is examined quite thoroughly in different genetic and epidemiological studies but the experience of people living with the syndrome remains to be investigated.
Living with Usher syndrome leads to challenges that affects the person with the syndrome but also the family as a whole. Thus, this master thesis revolves around these challenges and seeks to investigate parents’ experience of having children with Usher syndrome. The identification of different challenges in the lives of children with Usher and their families might be useful for people working with persons dealing with Usher syndrome.
Drawing on a phenomenological and hermeneutical scientific theoretical approach this qualitative study uses semi-structured life-world interviews to investigate the parental perspective, and two parents were interviewed (telephone and face-to-face). Both parents were mothers to two children with Usher type I, and they were chosen on the basis of a homogenous sampling strategy. One overarching theme, seven subthemes and 19 categories were identified using Interpretative Phenomenological Analysis.
The overarching theme was ‘Adaptation and flexibility’, which indicated the need of the children and their parents for a capacity to adjust to different demands and challenges in facing the progression of Usher and the development of the child. Subthemes included ‘Challenges of the children’, ‘The children coping with Usher’, ‘Usher as a part of family life’, ‘Developing a handicap’, ‘Parents taking responsibility and being powerless’, ‘Being understood’, and ‘The challenges of tomorrow’.
The understanding of the overarching theme, subthemes and categories on life with Usher syndrome were broadened with different theoretical perspectives such as Psychological flexibility from Acceptance and Commitment Therapy, the understanding of handicap identity and the reconstruction of identity following the progression of Usher syndrome. A framework from Developmental Psychopathology was furthermore introduced to illustrate how different factors in development could lead to adaptive or non-adaptive strategies. Additionally, the epistemological position, the analytic strategy and the limitations of this study were considered to understand the value of knowledge that originates from this thesis. Being one of the first qualitative inquiries to investigate parental perspective on living with children, who have Usher syndrome, this master thesis can offer practitioners a more
ecological and systemic framework to use when supporting and making interventions in families dealing with this progressive condition.