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

• Published in: Children (Basel) Vol. 9; no. 7; p. 933
• Main Authors: Belzer, Leslee T, Wright, S Margaret, Goodwin, Emily J, Singh, Mehar N, Carter, Brian S
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 21-06-2022; MDPI
• Subjects: Care and treatment; care coordination; Caregivers; children; Children & youth; Chronic illnesses; Communication; Comorbidity; Complex patients; Continuity of care; Ethnicity; families; Families & family life; Interlibrary loans; Intersectionality; Language disorders; medical complexity; Mental health; Ostomy; Parents & parenting; Pediatric research; Pediatrics; Psychological aspects; psychosocial; Quality of life; R&D; rare disease; Rare diseases; Research & development; Respiratory distress syndrome; Review; Sick children; Social aspects; Teenagers; United States; United States > US; medical complexity; rare disease; children; advocacy; psychosocial; care coordination; families; policy
• ISSN: 2227-9067; 2227-9067
• DOI: 10.3390/children9070933

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.