Children and young people's experiences of living with rare diseases: An integrative review

Suja Somanadhan, Ryan O'Donnell, Shirley Bracken, Sandra McNulty, Alison Sweeney, Doris O'Toole, Yvonne Rogers, Caroline Flynn, Atif Awan, Mona Baker, Aimee O'Neill, Helen McAneney, Lisa Gibbs, Philip Larkin, Thilo Kroll

Research output: Contribution to journalReview articlepeer-review

1 Citation (Scopus)


PROBLEM: Rare diseases are any disease affecting fewer than five people in 10,000. More than 8000 rare diseases and 50-75% of all rare diseases affect children. The purpose of this review was to critically appraise and synthesize existing literature relating to the impact of rare diseases on children's day-to-day lives.

ELIGIBILITY CRITERIA: An integrative literature review was conducted using the CINAHL Plus, PsycINFO, and PubMed databases. Studies were included if they were a primary source was published between the years 2005 and 2019 and written in the English language.

SAMPLE: Eight primary sources met the inclusion criteria.

RESULTS: Seven main themes emerged from the review as follows: (i) the experience of stigmatisations, (ii) self-consciousness, (iii) restrictions in independent living, (iv) developing resilience/coping strategies, (v) psychological and emotional impact, (vi) social impact vs social connectedness and (vii) transition challenges.

CONCLUSIONS: The experience of having a rare illness differed across different age groups. Children (typically aged 3-10) with rare diseases generally view themselves and their lives the same way like their healthy peers. They were more likely to report being adaptive and resilient than those aged 12 or older. Young people reported being different compared to young children, and they faced numerous challenges related to their illness.

IMPLICATIONS FOR PRACTICE: To provide the best possible level of care for children and families with rare disorders, health services must be informed and equipped to provide the necessary supports specific to the unique needs of children and young people living with rare diseases.

Original languageEnglish
Pages (from-to)e16-e26
Number of pages11
JournalJournal of pediatric nursing
Early online date25 Nov 2022
Publication statusPublished online - 25 Nov 2022

Bibliographical note

Copyright © 2022 Elsevier Inc. All rights reserved.

Funding Information:
This study is a part of the SAMPI research project, which received funding from the Children's Fund for Health at Children's Health Ireland at Temple Street ( RPAC17–05 ).

Publisher Copyright:
© 2022 Elsevier Inc.


  • Children
  • Experience
  • Integrative review
  • Rare diseases
  • Young people


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