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Cited by 168Family and Disability Support ResearchGenomics and Rare DiseasesAdolescent and Pediatric Healthcare

The supportive care needs of parents with a child with a rare disease: results of an online survey

Open access
Pelentsov, Lemuel J., Fielder, Andrea L., Laws, Thomas A., Esterman, Adrian J.·2016·BMC Family Practice
DOI 10.1186/s12875-016-0488-xPMC PMC4955113
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Abstract

BACKGROUND: Parents caring for a child affected by a rare disease have unmet needs, the origins of which are complex and varied. Our aim was to determine the supportive care needs of parents caring for a child with a rare disease. METHODS: An online survey was developed consisting of 45 questions (108 items) and separated into six domains. The survey included questions about perceived level of satisfaction with receiving care, experiences and needs of providing daily care, the impacts of disease on relationships, the emotional and psychological burdens of disease, and parents overall satisfaction with the support received. RESULTS: Three-hundred and one parents from Australia and New Zealand completed the survey; 91 % (n = 275/301) were mothers, with 132 distinct rare diseases being reported. Fifty-four percent (n = 140/259) of parents were dissatisfied with health professionals' level of knowledge and awareness of disease; 71 % (n = 130/183) of parents felt they received less support compared to other parents. Information regarding present (60 %, n = 146/240) and future services (72 %, n = 174/240) available for their child were considered important. Almost half of parents (45 %, n = 106/236) struggled financially, 38 % (n = 99/236) reduced their working hours and 34 % (n = 79/236) ceased paid employment. Forty-two percent (n = 99/223) of parents had no access to a disease specific support group, and 58 % (n = 134/230) stated that their number of friends had reduced since the birth of their child; 75 % (n = 173/230) had no contact with other parents with a child with a similar disease, and 46 % (n = 106/230) reported feeling socially isolated and desperately lonely. Most frequent emotions expressed by parents in the week prior to completing the survey were anxiety and fear (53 %, n = 119/223), anger and frustration (46 %, n = 103/223) and uncertainty (39 %, n = 88/223). CONCLUSION: This study is the first to develop an online survey specifically for use with parents to investigate their supportive care needs across a large and diverse group of rare diseases. The findings highlight that parents with a child with a rare disease have common unmet needs regardless of what disease their child has. Such information may allow health providers to improve child outcomes through improving parental supportive care.

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  • Parents and caregivers of children with rare genetic diseases face a lack of knowledge and scarcity of expertise among health care professionals.

    “The low prevalence of these conditions means there is often a lack of knowledge and scarcity of expertise among health care professionals [4,5].”

    From Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review (2025) · cites this paper as [5]

    The Discussion (Health professionals; page not available) reports that 54% of surveyed parents felt health professionals lacked the knowledge needed to care for their child. The Background also describes limited access to experienced professionals. The paper does not establish the citing sentence’s causal claim that low prevalence produces this lack of knowledge and expertise. (LLM, conf=0.83)

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  • Many parents may never physically meet other parents caring for a child with the same or similar genetic condition.

    “Many parents may never physically meet other parents caring for a child with the same or similar genetic condition [5].”

    From Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review (2025) · cites this paper as [5]

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Authors
Pelentsov, L. J., Fielder, A. L., Laws, T. A., & Esterman, A. J.
Affiliations
  • University of South Australia (AU)
  • Keele University (GB)
Corresponding author
Pelentsov, Lemuel J.
ORCID
Venue
BMC Family Practice
Publisher
Springer Science and Business Media LLC
Published
2016-07-21
Volume
17
Issue
1
Pages
88-88
ISSN
1471-2296 (ISSN-L)
DOI
10.1186/s12875-016-0488-x
PMC
PMC4955113
OpenAlex
W2477707385
Cited by
168
References
53
Citations by year
2026: 19 · 2025: 24 · 2024: 25 · 2023: 27 · 2022: 28 · 2021: 17 · 2020: 9 · 2019: 7 · 2018: 7 · 2017: 4 · 2016: 1
FWCI
8.48
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • BMC Family Practice (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • UniSA Research Outputs Repository (University of South Australia) (acceptedVersion, other-oa)
  • ResearchOnline - JCU (James Cook University) (submittedVersion)
  • University of Salford Institutional Repository (University of Salford) (submittedVersion, cc-by)
  • Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion, cc-by)
Topics
  • Social Sciences › Psychology › Clinical Psychology › Family and Disability Support Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Health Professions › Speech and Hearing › Adolescent and Pediatric Healthcare
Keywords
rare diseases, parents of children with rare diseases, supportive care needs, caregiver burden, social isolation, loneliness, financial stress, job loss, support groups, emotional burden, family relationships
MeSH terms
Adolescent, Adult, Anxiety, Australia, Clinical Competence, Emotions, Fathers, Female, Health Services Accessibility, Humans, Interpersonal Relations, Male, Middle Aged, Mothers, New Zealand, Quality of Health Care, Surveys and Questionnaires, Self-Help Groups, Social Isolation, Social Support, Reproducibility of Results, Patient Satisfaction, Needs Assessment, Uncertainty, Rare Diseases, Consumer Health Information, Young Adult

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