Impact on the family of a child’s rare disease: A large cross-sectional study

Introduction: Children living with rare diseases (RD) require considerable support from their families. Aim: To assess the impact of children’s RD on family functioning and evaluate predictors of the level of impact. Methods: Families of Australian children aged < 19 years and living with a RD we...

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Main Authors: Judith M. Jobling, Suzy M. Teutsch, Guy D. Eslick, Elizabeth J. Elliott
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Rare
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Online Access:http://www.sciencedirect.com/science/article/pii/S2950008725000109
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author Judith M. Jobling
Suzy M. Teutsch
Guy D. Eslick
Elizabeth J. Elliott
author_facet Judith M. Jobling
Suzy M. Teutsch
Guy D. Eslick
Elizabeth J. Elliott
author_sort Judith M. Jobling
collection DOAJ
description Introduction: Children living with rare diseases (RD) require considerable support from their families. Aim: To assess the impact of children’s RD on family functioning and evaluate predictors of the level of impact. Methods: Families of Australian children aged < 19 years and living with a RD were invited to complete a comprehensive survey. Impact on family (IOF) score, using the validated IOF scale, embedded within the survey, was used as the main outcome measure. Results: Families of 462 children with > 240 different RD completed the survey. IOF scores increased as child health functioning (HF) worsened (Odds ratio [OR]= 97.3 [95 % CI 40.6–233.4] for severely reduced compared to excellent HF). Speaking a first language other than English (OR 2.9; 95 % CI 1.4–6.3), experiencing financial difficulty (OR 2.9; 95 % CI 1.4–3.1), long wait times to see a specialist doctor (OR 1.9; 95 % CI 1.3–2.9), and having two versus one child with a RD (OR 3.8; 95 % CI 1.1–14.5) were also associated with higher IOF scores. Conversely, IOF scores significantly decreased as the age of children increased (6–11 y: OR 0.6 (95 % CI 0.4–0.9); 12–18 y: OR 0.5 (95 % CI 0.3–0.8), versus 0–5 y). Conclusion: Worse health-related functioning in children with RD results in significantly higher impacts on family functioning. Practical, financial, and socio-emotional support is required to reduce the burden for families whose children live with a RD, particularly families from non-English speaking backgrounds, with financial stress, or with young children who have severe disease.
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spelling doaj-art-3f39cfc071d8490e92abfdc0e0f04e022025-08-20T03:11:47ZengElsevierRare2950-00872025-01-01310006610.1016/j.rare.2025.100066Impact on the family of a child’s rare disease: A large cross-sectional studyJudith M. Jobling0Suzy M. Teutsch1Guy D. Eslick2Elizabeth J. Elliott3The University of Sydney, Faculty of Medicine and Health, Sydney Medical School, Sydney, New South Wales 2006, Australia; The University of Sydney, Faculty of Medicine and Health, Specialty of Child and Adolescent Health, Westmead, New South Wales 2145, Australia; The Australian Paediatric Surveillance Unit, Kids Research, Sydney Children’s Hospitals Network, Westmead, New South Wales 2145, AustraliaThe University of Sydney, Faculty of Medicine and Health, Specialty of Child and Adolescent Health, Westmead, New South Wales 2145, Australia; The Australian Paediatric Surveillance Unit, Kids Research, Sydney Children’s Hospitals Network, Westmead, New South Wales 2145, Australia; Correspondence to: The Australian Paediatric Surveillance Unit, Kids Research Sydney Children’s Hospitals Network, 214 Hawkesbury Road, Westmead, New South Wales 2145, Australia.The University of Sydney, Faculty of Medicine and Health, Specialty of Child and Adolescent Health, Westmead, New South Wales 2145, Australia; The Australian Paediatric Surveillance Unit, Kids Research, Sydney Children’s Hospitals Network, Westmead, New South Wales 2145, AustraliaThe University of Sydney, Faculty of Medicine and Health, Specialty of Child and Adolescent Health, Westmead, New South Wales 2145, Australia; The Australian Paediatric Surveillance Unit, Kids Research, Sydney Children’s Hospitals Network, Westmead, New South Wales 2145, Australia; The Sydney Children’s Hospitals Network, Westmead, New South Wales 2145, AustraliaIntroduction: Children living with rare diseases (RD) require considerable support from their families. Aim: To assess the impact of children’s RD on family functioning and evaluate predictors of the level of impact. Methods: Families of Australian children aged < 19 years and living with a RD were invited to complete a comprehensive survey. Impact on family (IOF) score, using the validated IOF scale, embedded within the survey, was used as the main outcome measure. Results: Families of 462 children with > 240 different RD completed the survey. IOF scores increased as child health functioning (HF) worsened (Odds ratio [OR]= 97.3 [95 % CI 40.6–233.4] for severely reduced compared to excellent HF). Speaking a first language other than English (OR 2.9; 95 % CI 1.4–6.3), experiencing financial difficulty (OR 2.9; 95 % CI 1.4–3.1), long wait times to see a specialist doctor (OR 1.9; 95 % CI 1.3–2.9), and having two versus one child with a RD (OR 3.8; 95 % CI 1.1–14.5) were also associated with higher IOF scores. Conversely, IOF scores significantly decreased as the age of children increased (6–11 y: OR 0.6 (95 % CI 0.4–0.9); 12–18 y: OR 0.5 (95 % CI 0.3–0.8), versus 0–5 y). Conclusion: Worse health-related functioning in children with RD results in significantly higher impacts on family functioning. Practical, financial, and socio-emotional support is required to reduce the burden for families whose children live with a RD, particularly families from non-English speaking backgrounds, with financial stress, or with young children who have severe disease.http://www.sciencedirect.com/science/article/pii/S2950008725000109Caregiver burdenChildFamilyRare diseases
spellingShingle Judith M. Jobling
Suzy M. Teutsch
Guy D. Eslick
Elizabeth J. Elliott
Impact on the family of a child’s rare disease: A large cross-sectional study
Rare
Caregiver burden
Child
Family
Rare diseases
title Impact on the family of a child’s rare disease: A large cross-sectional study
title_full Impact on the family of a child’s rare disease: A large cross-sectional study
title_fullStr Impact on the family of a child’s rare disease: A large cross-sectional study
title_full_unstemmed Impact on the family of a child’s rare disease: A large cross-sectional study
title_short Impact on the family of a child’s rare disease: A large cross-sectional study
title_sort impact on the family of a child s rare disease a large cross sectional study
topic Caregiver burden
Child
Family
Rare diseases
url http://www.sciencedirect.com/science/article/pii/S2950008725000109
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AT suzymteutsch impactonthefamilyofachildsrarediseasealargecrosssectionalstudy
AT guydeslick impactonthefamilyofachildsrarediseasealargecrosssectionalstudy
AT elizabethjelliott impactonthefamilyofachildsrarediseasealargecrosssectionalstudy