The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations

Abstract

Children living with a rare disease (CLWRD) often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey.(1,2) This journey significantly impacts their physical, mental and financial wellbeing, in addition to that of their families.(3,4,5,6) The diagnostic odyssey is often characterised by anxiety and stress surrounding the uncertainty of the future.(7) This is experienced by the patient as well as by the family.(7) This odyssey is associated with poor patient and family outcomes, reduced trust in health professionals and decreased satisfaction with the medical system.(1,5,8,9,10,11) The aim of this narrative review was to explore the experiences of caregivers of CLWRD, in addition to that of the patients themselves, throughout their diagnostic odyssey. This narrative review reflected upon quantitative and qualitative data in the literature to identify and explore several themes common to the journeys of CLWRD and their caregivers. One such theme included parental burden, which encompassed the need to fulfil multiple roles and duties, in addition to emerging conflict with their increasingly autonomous children.(6) Another theme that was identified included the diagnostic odyssey itself, specifically delayed diagnosis, and the value of diagnosis.(1,5,8,9,10,11) Additionally, lack of support (both psychological and financial) was a further theme identified as a common experience shared by individuals on their journey to diagnosis.(5) Our findings suggests a need for improved communication between practitioners and patients, greater education of medical practitioners about rare diseases, the implementation of faster and clearer referral pathways for children living with rare diseases, better parental education about and access to support groups, and improved provision of psychological and financial support, particularly at time of diagnosis.(5,9) These improvements will together, assist in improving outcomes for CLWRD and their families. In the Australian context, these are consistent with the recommendations of the National Strategic Action Plan for Rare Diseases (2020).(12).