Parents' Experiences of Living with and Caring for Children, Adolescents and Young Adults with Mucopolysaccharidosis (MPS)

Background: Mucopolysaccharidoses (MPS) is one of the many rare inherited metabolic disorders that come under category 3 of life-limiting conditions. Children born with this genetic condition show no change at birth, but as a... [ view full abstract ]

Background:
Mucopolysaccharidoses (MPS) is one of the many rare inherited metabolic disorders that come under category 3 of life-limiting conditions. Children born with this genetic condition show no change at birth, but as a progressive disease, the effects of the condition start to show in subsequent years. Very little is known about parents’ experience of living and caring for these children, adolescents and young adults with MPS.

Aim:
To explore and interpret Irish families’ experiences of living and caring for children, adolescents and young adults with MPS.

Methodology:
This study takes the stance of hermeneutic phenomenology, informed by the philosophical constructs of Heidegger (1962), Gadamer (1989) and Van Manen (2007/2014). A purposively selected sample of parents’ (n=8) attending The Irish National Centre for Inherited Metabolic Disorders was invited to participate. The data was collected over a 17 month period at the three-time point of contact (August 2013-December 2014). The study has been approved by the Research and Ethics Committee from TSCUH and UCD.

Findings:
Nine themes and twenty corresponding subthemes were identified during data analysis. Parents spoke about their rite of passage where they move from being the parent of a normal healthy child to being the parent of a child with a life-limiting condition; they predominantly focused on the rite of transition (liminality). It would appear that all the parents in this study were living in a liminal space, experienced a range of uncertainties and made reference to ‘no man’s land’ and ‘future is unknown’ to describe their world. The findings suggest that parents of children with MPS experienced multiple cyclical movements across all five lived existential, and they gradually developed a way of learning to incorporate MPS in their day to day life.

Conclusion:
Overall, this study provided a deeper meaning of the lived experience for parents’ 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 practitioner’s knowledge and understanding. This will, in turn, improve service delivery and partnership care for the children and their families with MPS.