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Ultra-rare ultra-care: The unique burden of ultra rare disease caregiving

Abstract

Background: We sought to assesses the impact of caring for children with ultra rare diseases (URDs) on family
carers and to analyse the way these experiences differ among the caregivers of children diagnosed through
prenatal or newborn screening, and those with symptom-based diagnosis.
Methods: A total of 200 caregivers of 219 URDs children completed an on-line survey regarding the challenges
and experiences of caregivers of URDs children.
Results: The majority of URD caregivers felt burdened by their children’s health problems, emotional and
behavioural changes. 46.5% reported feelings of care overload, 43% coped poorly with the stress, and many
experienced a variety of feelings of distress towards the role of caregiver. While most caregivers struggled with
the diagnostic odyssey and were dissatisfied with the healthcare services for URD children, caregivers of children
diagnosed through prenatal or newborn screening were significantly less burdened than the parents of children
with symptom-based diagnoses.
Conclusion: Although caregivers of URDs children experience physical and emotional strain, they are often
neglected by the healthcare system. A bio-psychosocial approach to URDs should therefore also include family
caregivers’ physical and psychosocial needs. Apart from financial and emotional support, enhancing access to
genetic testing and newborn screening should be prioritised. 

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Category:
Magazine publication
Type:
Magazine publication
Published in:
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY no. 48, pages 78 - 84,
ISSN: 1090-3798
Publication year:
2023
Bibliographic description:
https://www.sciencedirect.com/science/article/pii/S1090379823001873
DOI:
Digital Object Identifier (open in new tab) https://doi.org/10.1016/j.ejpn.2023.12.003
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