Psychosocial Considerations for the Child with Rare Disease: A Review with Recommendations and Calls to Action

Abstract

Rare diseases (RD) affect children, adolescents, and their families infrequently, but with a significant impact. The diagnostic odyssey undertaken as part of having a child with RD is immense and carries with it practical, emotional, relational, and contextual issues that are not well understood. Children with RD often have chronic and complex medical conditions requiring a complicated milieu of care by numerous clinical caregivers. They may feel isolated and may feel stigmas in settings of education, employment, and the workplace, or a lack a social support or understanding. Some parents report facing similar loneliness amidst a veritable medicalization of their homes and family lives. We searched the literature on psychosocial considerations for children with rare diseases in PubMed and Google Scholar in English until 15 April 2022, excluding publications unavailable in full text. The results examine RD and their psychosocial ramifications for children, families, and the healthcare system. The domains of the home, school, community, and medical care are addressed, as are the implications of RD management as children transition to adulthood. Matters of relevant healthcare, public policies, and more sophisticated translational research that addresses the intersectionality of identities among RD are proposed. Recommendations for interventions and supportive care in the aforementioned domains are provided while emphasizing calls to action for families, clinicians, investigators, and advocacy agents as we work toward establishing evidence-based care for children with RD.

Keywords: advocacy; care coordination; children; families; medical complexity; policy; psychosocial; rare disease.

Figure 1

(a) Photo Captions: #RareDisease #RareIsntRare; (b) Miya’s Story [14].

Figure 2

The Expert Medical Parent [14].

Figure 3

A Parent Voice: Calls to action that Ryan values most for Miya [14].

Figure 4

Care map created by the mother of a child with medical complexity to pictorially represent aspects of the care her son requires to be coordinated. Used with permission from Cristin Lind, http://www.childrenshospital.org/integrated-care-program/care-mapping accessed on 4 December 2021.