Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia

Purpose: This research aims to investigate the medical, socioeconomic, and cultural factors influencing the quality of life (QoL) in parents of children with cystic fibrosis (CF), congenital adrenal hyperplasia (CAH), and Duchenne muscular dystrophy (DMD). Methods: This cross-sectional single-centered study included parents of children diagnosed with CF, CAH, or DMD at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. The QoL was assessed using the PedsQL™ Family Impact Module. Results: = 0.014). Conclusion: Overall, the study found that parents of children with rare diseases experience a suboptimal QoL score, with parents of children with DMD faced the greatest challenges, suggesting targeted interventions like enhanced newborn screening and utilizing genetic testing for expedited diagnosis may be beneficial. The study also found that frequent emergency department visits negatively impacted QoL, suggesting that enhancing healthcare access through medical education, and the integration of telemedicine and home healthcare services might alleviate the burden faced by caregivers. Moreover, financial support to these families might play a role in enhancing their quality of life due to high prevalence of sole providers, and caregiver saturation. The low participation in support groups signals a gap in caregiver support that requires further exploration.