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Suja Somanadhan and Philip Larkin
Temple Street Childrenâ�?�?s University Hospital, Dublin, Ireland
Childrenâ�?�?s Nursing University College, Ireland
Our Ladyâ�?�?s Hospice and Care Services, Ireland
Posters & Accepted Abstracts: Pediat Therapeut
Mucopolysaccharidosis (MPSs) is one of the many rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions. The severity of the disease varies according to the specific type, ranging from very mild symptoms to, in most cases, multisystemic, restricted growth or mental and physical disabilities. Recent developments in treatments for some forms of MPS have made dramatic changes in the quality of life for patients. Other forms of treatment are currently under investigation and development. Very little is known about parentsâ�?�? experience of living and caring for these children, adolescents and young adults with MPS. This study aimed to explore and interpret Irish familiesâ�?�? experiences of living and caring for children, adolescents and young adults with MPS. A qualitative approach, utilising hermeneutic phenomenology informed by the philosophical constructs of Heidegger (1962), Gadamer (1960/1998) and Van Manen (2007/2014) was undertaken. Van Manenâ�?�?s (2007/2014) phenomenological approach was used as a guide for data collection through serial interviewing and phenomenological data analysis. A purposively selected sample of parentsâ�?�? (N=8) attending the Irish National Centre of Inherited Metabolic Disorders was invited to participate. The data was collected over a 17 month period (August 2013-December 2014). Nine themes and 22 corresponding subthemes were identified during data analysis. In this study, the parentsâ�?�? experience of living with a child with MPS was reflected in a number of ways. The majority of families started their lived experience from the time they received their childâ�?�?s diagnosis and this experience then impacted their life as a whole. They spoke about grief and loss reactions associated with receiving their diagnosis and living day to day with a condition that has no cure. They spoke of their childâ�?�?s quality of life, their healthy childrenâ�?�?s wellbeing, and for some, the impact on their own physical and psychological wellbeing. They also reflected on issues of stigmatization and isolation in their experience of living with a child with a rare disorder. Parents spoke about their experience of being the parent of a healthy child to being the parent of a child with a life-limiting condition, and they described as living in a state of liminality within this transition. Overall, this study provided a deeper meaning of the lived experience for parentsâ�?�? of children, adolescents and young adults with MPS in the Republic of Ireland through snapshots in time. This study recommends improving current practice and policy implementation to enhance healthcare practitionerâ�?�?s knowledge and understanding. This will, in turn, improve service delivery and partnership care for the children and their families with MPS.