Abstract
TANGO2 disorder is a rare genetic disease with multi-system effects that causes episodic crises. Quality of life and psychosocial effects of this rare disease have not previously been studied. To examine health-related quality of life (HRQoL), illness perceptions, and lived experience, we surveyed 16 children and 31 parents of children with TANGO2 disorder identified via a disease-specific social media group and research foundation email distribution list. We assessed HRQoL by parent proxy-report and child self-report using the Pediatric Quality of Life Inventory (PedsQL™). Parental perceptions of their child's condition were assessed using the revised illness perceptions questionnaire adapted for TANGO2 disorder (IPQ-R-TANGO2). To collect qualitative data on parents' lived experience, we used novel open-ended survey questions. Parent proxy-reported (n = 29) physical (78.4 (21)) and psychosocial health (73.4 (12.8)) were highest among toddlers with TANGO2 disorder. Parent proxy-reported physical health was lowest in young adults (34.4 (35.4)), and psychosocial health was lowest in teens (40.8 (10.8)). When compared to previously published PedsQL™ scores in healthy children, parent-proxy reported summary and scale scores for TANGO2 patients were significantly lower (all p < 0.001). Parents' IPQ-R-TANGO2 responses (n = 26) suggested that parents perceived significant negative consequences of the disease. Parents' open-ended survey responses (n = 21) highlighted that they derived support from the TANGO2 community. This study characterizes HRQoL in patients with TANGO2 disorder across a range of ages, identifies potential targets for HRQoL improvement, and provides valuable insight into the psychosocial effects of TANGO2 disorder on patients and their families.