The diagnostic odysseys of parents in obtaining an informed rare disease diagnosis in Malta

Abstract

The scope of this research was to bring to light the challenges parents face when navigating the Maltese and other healthcare systems in search of a diagnosis. The aim of this feminist emancipatory research was to shed light on this relatively neglected area in locally based literature. Feminist standpoint theory was adopted to give parents the opportunity to speak about their experiences. The long-term goal is to use this research to push for the design of future interventions that can help improve access to diagnosis as advocacy is crucial to feminist research. This study elicited stories that needed to be told to explore how parents make sense of these lived experiences. Thirteen participants (eight mothers and five fathers) were recruited through the National Alliance for Rare Diseases Support Malta (RDM). Four mothers and three fathers participated in an exploratory focus group. Interview questions for individual, semi-structured, in-depth interviews were formulated following a thematic analysis of the focus group data, with six parents (four mothers and two fathers). This design ensured that the research was informed by the parents as the main carers and service users. Transcripts of these interviews were analysed using thematic analysis. The process of data analysis led to the identification of four themes, namely, the onset of the diagnostic journey, navigating the Maltese healthcare system, the impact this lengthy journey had on the family, and how helpful peer support was as a source of information as well as emotional support. Ultimately, this research concluded that parents should be given a seat at the table in public consultation for defining a national action plan for rare diseases.