Psychological supports for people living with a rare disease in Ireland: an online survey-based study

TL;DR

People with rare diseases in Ireland face significant unmet psychological support needs, impacting their mental health and daily life.

Contribution

This study identifies gaps in psychological support access for rare disease patients in Ireland and suggests ways to improve these services.

Findings

Participants reported a need for psychological supports at all stages of their patient journey.

Key issues included lack of healthcare professional understanding, long waiting times, and financial burdens.

Rare diseases impact educational, social, and financial aspects of daily living.

Abstract

People living with rare diseases have reported high unmet support needs for access to psychological services despite the significant impact rare diseases have on mental health.

This study aimed to explore experiences in accessing psychological supports in the Republic of Ireland, and ways in which supports can be improved.

An online survey was distributed to people living with rare diseases through Irish rare disease patient organisations and expert centres (May–June 2023). Paediatric and adult participants were included with carers providing information on behalf of those age < 18 years. A PRISMA-based scoping review was conducted to explore reported gaps in psychological supports for people living with rare diseases.

Eligible responses were received from 142 participants (87 adults, 55 children, 94 females, 47 males). People living with rare diseases reported a need for psychological supports at all stages of their patient journey. Participants indicated that a rare disease has an impact on educational, social, and financial aspects of daily living. A lack of understanding of the rare disease by healthcare professionals, extended waiting times, and the financial burden of accessing supports were key themes identified by participants.

Living with a rare disease is associated with an increased mental health burden. Gaps remain in the provision of psychological supports for people affected by rare diseases. The integration of mental health supports into the care of people living with rare diseases should be a priority for the Irish health service.

The online version contains supplementary material available at 10.1007/s11845-025-03902-x.

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