From Cradle to Grave: A Hermeneutic-Phenomenological Exploration of Living and Dying with Niemann-Pick Disease Type C.

Abstract

This thesis explores the lived experience across the lifespan of living and dying with Niemann- Pick disease type C (NPC). NPC is a neurodegenerative disease with no cure. One can become symptomatic at any age and the prognosis is often unclear. This emphasises the unpredictable nature of the disease and the wide-ranging impacts it can have on a person’s life. Although work is being conducted into understanding the disease, there has been no research into understanding the illness experience. Incurable illness struggles to find a place in a society where the clinical gaze dominates and the acceptance of death is resisted. This thesis sought to understand the meanings associated with living with this rare disease at a lifeworld level. It is through such exploration that we can see the intimate links between self-body-world and understand such a critical existential issue. Drawing on Heideggerian notions of at-homeness and homelessness, this series of studies focused on the existential nature of illness; the vulnerabilities and possible freedoms. Taking a multiperspectival approach to the interconnected lifeworlds of the person diagnosed and their family caregivers, three studies were conducted. The first explores living with NPC from a child’s perspective; the second focuses on adults’ experiences; and the last looks at end-of-life care and the dying experience for two families whose child has died from NPC. All three emphasised that illness has wider social and cultural implications that demand political and therapeutic intervention. From a re-analysis of these results, two quality of life scales for children and adults with NPC were developed and a reflective chapter on the novel use of phenomenology to develop items for these scales is presented. I make suggestions based on the results that a lifeworld understanding of these families’ experiences is necessary within medical consultations, meaningfully engaging with what it means to be human.