The Complexity of Psychosocial Burden and Needs for an Understudied Rare Disease

Background and Purpose: Telomere biology disorders (TBDs) are caused by rare germline pathogenic variants in telomere maintenance genes resulting in very short telomeres. Inheritance of variants in TBD-associated genes occurs in autosomal recessive, autosomal dominant, or X-linked recessive patterns. Complications of TBDs include, but are not limited to, bone marrow failure, pulmonary fibrosis, cancer, liver disease, and a classic mucocutaneus phenotype (nail dysplasia, abnormal skin pigmentation, and oral leukoplakia). Children and adults are affected by this progressive disease. Given the heterogeneity in type, severity, and early onset of complications, the purpose of this study is to identify psychosocial burdens and needs for individuals and families affected by TBDs.

Methods: The National Cancer Institute recruited patients and caregivers to this study (NCT04959188) through patient advocacy and health provider groups specializing in TBDs. The present analysis reports on a subset of participants aged ≥ 18 years who identify as living with a TBD, caregiving to someone with a TBD, or as a bereaved first-degree relative of someone who died of TBD-related complications. Participants completed semi-structured telephone interviews. An interprofessional team used an inductive-deductive approach to analyze transcribed interviews.

Findings: Participants presented with complex emotional needs distinct from those reported by individuals and families living with other rare hereditary cancer predisposition syndromes. Common stressors included exhaustive diagnostic journeys, managing complex care regimens, ongoing uncertainty about disease progression, an immense emotional burden that appears to be disease specific, guilt, and multidimensional grief. Diagnostic processes often took multiple years due, in part, to the rarity of TBDs and lack of knowledgeable physicians. Caregivers of young children with a TBD described serving multiple demanding roles, such as advocate and educator during health care encounters. They worried about how their children would manage health care decisions and behaviors as they transitioned from pediatric to adult care. Participants felt burdened by confronting or coping with personal and family multimorbidity and early mortality.

To address disease and caregiver burden, many participants described active coping strategies, such as health information-seeking, social support-seeking from patient advocacy groups, family, and friends, and practicing gratitude. Patients and caregivers emphasized the need for, and lack of, coordinated care as they managed chronic medical needs on a daily basis. Specifically, families struggled to access specialty care since this required significant travel, resources, and considerable organization.

Conclusions and Implications: To our knowledge, this is the first psychosocial study to explore the complex needs of individuals and caregivers affected by TBDs. Social work is uniquely positioned to lead interdisciplinary teams caring for rare disease patients with complex psychosocial needs. Supportive and transdisciplinary interventions that aim to address multifaceted physical, emotional, and financial needs are needed to support the intricate challenges of families affected by TBDs. Such interventions must include attention to the rarity of the disease, psychosocial needs that are specific to TBDs, and scarcity of specialists.