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Original article

Vol. 154 No. 6 (2024)

Parents’ expectations regarding case management for rare diseases in Switzerland: mixed-method findings from an online survey

Cite this as:
Swiss Med Wkly. 2024;154:3401


AIMS OF THE STUDY: This pilot study aims to enhance understanding by examining parents’ specific views on the requirements, content and objectives of case management and advanced care coordination for children with rare diseases during childhood. The findings of this study are expected to offer valuable insights and recommendations for existing and future initiatives in clinical practice and research, with the goal of improving the comprehensive, child-centred and family-orientated approach to case management.

METHODS: This pilot study is part of an ongoing prospective study (SPACE), involving parents and families from various networks in Switzerland. Participants were parents recruited from the Children with Rare Diseases (KMSK) network consisting of families with children with rare diseases. The survey questionnaire covered demographic information; expectations and perceived need for case management; assessment of their quality of life and their child’s suffering; and evaluation of interprofessional and interdisciplinary communication. Qualitative data from free-response answers were analysed using Mayring’s content analysis and descriptive statistics were used to analyse quantitative data from Likert-scale questions.

RESULTS: The study included 108 respondent families from among the 775 in the KMSK, a 14% response rate. The age of their children ranged from 0.4 to 24 years (mean: 8) and their level of suffering in the past six months varied, with 31.5% indicating intense or very intense suffering. In terms of case management, 15.8% of families reported access while 32.4% expressed a need but did not have access to it. The study identified three categories of parental expectations regarding case management, emphasising the importance of interprofessional collaboration, effective communication and comprehensive support.

CONCLUSIONS: The findings shed light on the high need for case management support with a current undersupply in Switzerland and an association with reduced parental quality of life, highlighting the necessity for diverse support and assistance to effectively manage the challenges faced by families with children with rare diseases.


  1. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020 Feb;28(2):165–73. 10.1038/s41431-019-0508-0 DOI:
  2. Castro R, de Chalendar M, Vajda I, van Breukelen S, Courbier S, Hedley V, et al. Rare Diseases. In: Amelung V, Stein V, Suter E, Goodwin N, Nolte E, Balicer R, editors. Handbook Integrated Care [Internet]Cham: Springer International Publishing; 2021. pp. 763–82. [ [cited 2023 Jul 17]]. 10.1007/978-3-030-69262-9_44 DOI:
  3. Auvin S, Irwin J, Abi-Aad P, Battersby A. The Problem of Rarity: Estimation of Prevalence in Rare Disease. Value Health. 2018 May;21(5):501–7. 10.1016/j.jval.2018.03.002 DOI:
  4. Fraser LK, Gibson-Smith D, Jarvis S, Norman P, Parslow RC. Estimating the current and future prevalence of life-limiting conditions in children in England. Palliat Med. 2021 Oct;35(9):1641–51. 10.1177/0269216320975308 DOI:
  5. Stille C, Turchi RM, Antonelli R, Cabana MD, Cheng TL, Laraque D, et al.; Academic Pediatric Association Task Force on Family-Centered Medical Home. The family-centered medical home: specific considerations for child health research and policy. Acad Pediatr. 2010;10(4):211–7. 10.1016/j.acap.2010.05.002 DOI:
  6. Bogart K, Hemmesch A, Barnes E, Blissenbach T, Beisang A, Engel P, et al.; Chloe Barnes Advisory Council on Rare Diseases. Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases. Orphanet J Rare Dis. 2022 May;17(1):196. 10.1186/s13023-022-02343-4 DOI:
  7. Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, et al. Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet J Rare Dis. 2016 Mar;11(1):30. 10.1186/s13023-016-0409-z DOI:
  8. Baumbusch J, Mayer S, Sloan-Yip I. Alone in a Crowd? Parents of Children with Rare Diseases’ Experiences of Navigating the Healthcare System. J Genet Couns. 2018 Aug;28(1):80–90. 10.1007/s10897-018-0294-9 DOI:
  9. Ankeny EM, Wilkins J, Spain J. Mothers’ Experiences of Transition Planning for Their Children with Disabilities. Teach Except Child. 2009 Jul;41(6):28–36. 10.1177/004005990904100604 DOI:
  10. Bigby C, Ozanne E, Gordon M. Facilitating Transition. J Gerontol Soc Work. 2002 Dec;37(3–4):25–43. 10.1300/J083v37n03_04 DOI:
  11. Simpson A, Bloom L, Fulop NJ, Hudson E, Leeson-Beevers K, Morris S, et al. How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study. Orphanet J Rare Dis. 2021 Feb;16(1):76. 10.1186/s13023-020-01664-6 DOI:
  12. Walton H, Simpson A, Ramsay AI, Hudson E, Hunter A, Jones J, et al. Developing a taxonomy of care coordination for people living with rare conditions: a qualitative study. Orphanet J Rare Dis. 2022 Apr;17(1):171. 10.1186/s13023-022-02321-w DOI:
  13. Auvin S, Bissler JJ, Cottin V, Fujimoto A, Hofbauer GF, Jansen AC, et al. A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. Orphanet J Rare Dis. 2019 Apr;14(1):91. 10.1186/s13023-019-1072-y DOI:
  14. Schultz EM, McDonald KM. What is care coordination? Int J Care Coord. 2014 Jun;17(1–2):5–24. 10.1177/2053435414540615 DOI:
  15. Kersbergen AL. Case management: a rich history of coordinating care to control costs. Nurs Outlook. 1996;44(4):169–72. 10.1016/S0029-6554(96)80037-6 DOI:
  16. Fraser K, Perez R. The Evolution of Case Management and the Professional Case Manager. In: Fraser K, Perez R, Latour C, editors. CMSA’s Integrated Case Management: A Manual For Case Managers by Case Managers [Internet]1st ed. Springer Publishing Company; 2018. 10.1891/9780826169518.0001 DOI:
  17. KMSK [Internet]. [cited 2023 Aug 8]. Available from:
  18. Mayring P. Qualitative Inhaltsanalyse. In: Mey G, Mruck K, editors. Handbuch Qualitative Forschung in der Psychologie [Internet]Wiesbaden: VS Verlag für Sozialwissenschaften; 2010. pp. 601–13. [ [cited 2023 Oct 4]]. 10.1007/978-3-531-92052-8_42 DOI:
  19. Mayring P. Qualitative Inhaltsanalyse–ein Beispiel für Mixed Methods. Mix Methods Empirischen Bild. 2012;1:27–36.
  20. Anzelewicz S, Garnier H, Rangaswami A, Czauderna P. Cultural, geographical and ethical questions when looking to enroll pediatric patients in rare disease clinical trials. Expert Opin Orphan Drugs. 2017 Aug;5(8):613–21. 10.1080/21678707.2017.1348293 DOI:
  21. Halley MC, Halverson CM, Tabor HK, Goldenberg AJ. Rare Disease, Advocacy and Justice: Intersecting Disparities in Research and Clinical Care. Am J Bioeth. 2023 Jul;23(7):17–26. 10.1080/15265161.2023.2207500 DOI:
  22. Sparring V, Tschank J, Handler K, Mansoory E, Konzett-Smoliner S, Lindgren P. Social and economic impact of a case management approach for people with rare and complex conditions in Salaj. Romania. 2018 Oct;18 s2:61. DOI:
  23. Tumiene B, Graessner H. Rare disease care pathways in the EU: from odysseys and labyrinths towards highways. J Community Genet. 2021 Apr;12(2):231–9. 10.1007/s12687-021-00520-9 DOI:
  24. Krzych ŁJ, Lach M, Joniec M, Cisowski M, Bochenek A. The Likert scale is a powerful tool for quality of life assessment among patients after minimally invasive coronary surgery. Kardiochir Torakochirurgia Pol. 2018 Jun;15(2):130–4. 10.5114/kitp.2018.76480 DOI:
  25. Ventegodt S, Merrick J, Andersen NJ. Measurement of quality of life II. From the philosophy of life to science. ScientificWorldJournal. 2003 Oct;3:962–71. 10.1100/tsw.2003.76 DOI:

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