Rare in prevalence, but common in needs: Supportive needs of parents caring for a child with rare disease
DOI:
https://doi.org/10.13112/pc.1033Keywords:
PARENTS, RARE DISEASESAbstract
The representation and coordination of programs in early intervention for children with rare diseases indicate that support for parents may be lacking as well. To gain knowledge about the needs of parents caring for a child with a rare disease, this research aimed to identify the supportive needs of affected families and their interrelations and to investigate the relationship between different aspects of needs with the place of residence and the age of the parents.
The research was conducted on a sample of 43 parents (43 mothers, 2 fathers) of preschool children (median 3 years, mean age 3 years, SD = 1.3) with rare diseases. Socio-demographic characteristics were evaluated, and the Parental Need Scale for Rare Diseases (PNS-RD) was used to assess parental needs.
The results indicate that parents reported medium to high levels of psychosocial needs (PNS-DR mean Total Score = 42.8, SD = 7.3). The parents living in rural areas expressed a greater level of supportive needs, which was particularly relevant to the emotional burden. No difference in any aspects of needs was found among parents of different age groups. Emotional issues and parents' need for support in understanding their child's illness were positively related (r = 0.48, p = 0.013).
Our study indicates that the supportive needs of parents of children with rare diseases are characterized by significant emotional effort and an urgent demand for effective social support networks. The obtained insights provide guidelines for a better understanding of parental needs through a comprehensive framework that takes into account emotional, informational, and systemic factors that will lead to improved outcomes for both parents and children. Furthermore, our results highlight the importance of improving family-centered care approaches.
References
1. Feltmate K., Janiszewski PM, Gingerich S, Cloutier M. Delayed access to treatments for rare diseases: who's to blame? Respirology. 2015;20(3):361–9. doi:10.1111/resp.12498.
2. Richter T, Nestler-Parr S, Babela R, et al. Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group. Value Health. 2015;18(6):906–14.
3. Hytiris M, Johnston D, Mullen S, Smyth A. Experience of health care at a reference centre as reported by patients and parents of children with rare conditions. Orphanet J Rare Dis. 2021;16(1).
4. Khair K, Pelentsov L. Assessing the supportive care needs of parents with a child with a bleeding disorder using the parental needs scale for rare diseases (PNS‐RD): a single‐centre pilot study. Haemophilia. 2019;25(5):831–7. doi:10.1111/hae.13826.
5. Pelentsov L, Fielder A, Laws T, Esterman A. Development of the parental needs scale for rare diseases: a tool for measuring the supportive care needs of parents caring for a child with a rare disease. J Multidiscip Healthc. 2016;9:425–33. doi:10.2147/jmdh.s113898.
6. Pelentsov L, Fielder A, Laws T, Esterman A. The supportive care needs of parents with a child with a rare disease: results of an online survey. BMC Fam Pract. 2016;17(1). doi:10.1186/s12875-016-0488-x.
7. Gómez-Zúñiga B, Pulido-Moyano R, Fernández M, García-Oliva A, Armayones M. The experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust. Orphanet J Rare Dis. 2019;14. doi:10.1186/s13023-019-1134-1.
8. Smits R, Vissers E, Pas R, Roebbers N, Feitz W, Rooij I, Verhaak, C. Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases. Orphanet J Rare Dis. 2022;17(1). doi:10.1186/s13023-022-02305-w.
9. Witt S, Schuett K, Wiegand‐Grefe S, Boettcher J, Quitmann J. Living with a rare disease - experiences and needs in pediatric patients and their parents. Orphanet J Rare Dis. 2023;18(1). doi:10.1186/s13023-023-02837-9.
10. Anderson M, Elliott E, Zurynski Y. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis. 2013;8(1). doi:10.1186/1750-1172-8-22.
11. Lim Y. Impact of raising children with rare diseases on parental quality of life and family functioning. Int J Rare Disord. 2023;6(1). doi:10.23937/2643-4571/1710053.
12. Schiller J, Towne M, Epstein R, Thornton J, Suslovitch V. How parents of children with ataxia‐telangiectasia use dynamic coping to navigate cyclical uncertainty. J Genet Couns. 2023;33(2):301–13. doi:10.1002/jgc4.1727.
13. Picci R, Oliva F, Trivelli, F, et al. Emotional burden and coping strategies of parents of children with rare diseases. J Child Fam Stud. 2013;24(2):514–22. doi:10.1007/s10826-013-9864-5.
14. 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;28(1):80–90. doi:10.1007/s10897-018-0294-9.
15. Currie G, Szabo J. Social isolation and exclusion: the parents' experience of caring for children with rare neurodevelopmental disorders. Int J Qual Stud Health Well-being. 2020;15(1). doi:10.1080/17482631.2020.1725362.
16. Cardinali P, Migliorini L, Rania N. The caregiving experiences of fathers and mothers of children with rare diseases in italy: challenges and social support perceptions. Front Psychol. 2019;10. doi:10.3389/fpsyg.2019.01780 .
17. Ammann-Schnell L, Groeschel S, Kehrer C, Frölich S, Krägeloh‐Mann I. The impact of severe rare chronic neurological disease in childhood on the quality of life of families—a study on mld and pch2. Orphanet J Rare Dis. 2021;16(1). doi:10.1186/s13023-021-01828-y.
18. Belzer L, Wright S, Goodwin E, Singh M, Carter B. Psychosocial considerations for the child with rare disease: a review with recommendations and calls to action. Children. 2022;9(7):933. doi:10.3390/children9070933.
19. Titgemeyer S, Schaaf C. Facebook support groups for pediatric rare diseases: cross-sectional study to investigate opportunities, limitations, and privacy concerns. JMIR Pediatr Parent. 2022;5(1):e31411. doi:10.2196/31411.
20. Zanello G, Chan C, Pearce D. Recommendations from the irdirc working group on methodologies to assess the impact of diagnoses and therapies on rare disease patients. Orphanet J Rare Dis. 2022;17(1). doi:10.1186/s13023-022-02337-2.
21. Boettcher J, Denecke J, Barkmann C, Wiegand‐Grefe S. Quality of life and mental health in mothers and fathers caring for children and adolescents with rare diseases requiring long-term mechanical ventilation. Int J Environ Res Public Health. 2020;17(23):8975. doi:10.3390/ijerph17238975.
22. Currie G, Szabo J. It is like a jungle gym, and everything is under constructio: the parent's perspective of caring for a child with a rare disease. Child Care Health Dev. 2018;45(1):96–103. doi:10.1111/cch.12628.
23. Zurynski Y, Deverell M, Dalkeith T, et al. Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays. Orphanet J Rare Dis. 2017;12(1). doi:10.1186/s13023-017-0622-4.
24. Zurynski Y, Gonzalez A, Deverell M, et al. Rare disease: a national survey of paediatricians’ experiences and needs. BMJ Paediatr Open. 2017;1(1):e000172. doi:10.1136/bmjpo-2017-000172.
25. Ruiz Y, Gerk A, Stegmann J. Mental health impact on primary and secondary prader–willi syndrome caregivers. Child Care Health Dev. 2023;50(1). doi:10.1111/cch.13162.
26. Nguengang Wakap SM, Lamber D, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2019;28:165–73.
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Dajana Bulić, Tena Matijaš, Ana Katušić
This work is licensed under a Creative Commons Attribution 4.0 International License.
By publishing in Paediatria Croatica, authors retain the copyright to their work and grant others the right to use, reproduce, and share their research articles in accordance with the Creative Commons Attribution License (CC BY 4.0), which allows others to distribute and build upon the work as long as they credit the author for the original creation.
