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.

Understanding the impact of pediatric single large‐scale mtDNA deletion syndromes on caregivers: Burdens and challenges

“…For example, they can ensure clear information and resources are shared with families prior to their visit and be a liaison between the family and other services offered within the hospital (e.g., meal vouchers). Given the need to address caregiver burdens for less affluent families, mitochondrial centers and patient navigators can leverage existing resources in their hospitals and incorporate social workers as part of the multidisciplinary team 29,30 . Finally, there may also be a role for mitochondrial centers to conduct a mental health assessment for caregivers and social work follow‐up, when appropriate.…”

Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges

“…Equity, social justice, and social protection mechanisms are fundamental pillars of public health, yet RD patients and their families often feel socially and culturally excluded. There is a global need to continue addressing the root causes of discrimination and stigma of people living with RDs [ 119 , 120 ]. Ensuring that decision makers and the public at large recognize and are aware of the full social and economic impact of RDs and the needs of these populations is essential, especially in light of persistent disparities across and within countries.…”

Transitions in tracheostomy care: from childhood to adulthood

“…Issues at the point of transition have been highlighted in this population, along with similar populations such as CYP with neurodisabilities [15 ▪▪ ]. Psychosocial issues for the child are emphasised as they may grapple with identity and difference in social and education environments that focus on the piece of equipment (tracheostomy) or underlying disease, rather than the skills and strengths of the young person [16 ▪ ]. Acknowledging the individual beyond technology is essential in supporting a safe and successful transition into adulthood, and therefore navigating adult services [17 ▪ ].…”