Carer reported experiences: Supporting someone with a rare disease.

Julie McMullan,Helen McAneney,Ashleen L. Crowe,Amy Jayne McKnight,Kirsten Downes

doi:10.1111/hsc.13336

Abstract

This exploratory study aimed to gain an understanding of carer reported experiences derived specifically from persons caring for someone with a rare disease. The survey took place online on the SmartSurvey platform from November 2019 to January 2020. The facilitated workshop took place in Bangor Carnegie Library, Northern Ireland. To be eligible to participate in the online survey respondents had to be adults caring for someone with a rare disease. Fifty-seven respondents took part, 15.8% male, 84.2% female. Thirty-two attendees were part of the facilitated workshop. While carers reported several positive aspects of their caring role, the majority of comments highlighted challenges such as sub-optimal interactions with healthcare professionals, insufficient (or absent) emotional, psychological and social support, lack of financial support and lack of awareness of existing support services. It is important that strategies are put in place to ensure that carers are given the time they need to care for themselves, and that awareness is raised of what support options are available for carers of people with a rare disease(s) from health and social care providers, charities or support groups.

Highlights

Rare diseases are collectively common and affect a significant proportion of the population (Ferreira, 2019), representing a major public health issue
It is important that strategies are put in place to ensure that carers are given the time they need to care for themselves, and that awareness is raised of what support options are available for carers of people with a rare disease(s) from health and social care providers, charities or support groups
Carers of those with a rare disease are asking for better access to psychosocial support, better financial provision for their substantive role, improved access to helpful information to give clarity for the future, training to assist them in their role, and options for respite care

Summary

Introduction

Rare diseases are collectively common and affect a significant proportion of the population (Ferreira, 2019), representing a major public health issue. Inconsistences in how rare diseases are defined leads to impaired diagnosis, challenges researching rare diseases, and treatment (Haendel et al, 2020). The varying attributes that lead to the diagnosis of a rare disease do need to be better defined (Haendel et al, 2020); these improvements are needed to improve the lives of those who have a rare disease, diagnosed or otherwise. Support for people living and working with rare diseases is currently inadequate (Kole & Faurisson, 2010; McKnight et al, 2020) with challenges including a lack of understanding by health and social care professionals, delayed diagnosis and difficulties gaining optimal treatment (Crowe et al, 2020; McMullan et al, 2020; Palacios-Cena et al, 2018)

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