ESPE Abstracts

Introduction: Indonesia, an archipelago with approximately 17,000 islands and 34 provinces has around 4.8 million babies born annually, yet only 2-3% undergo newborn screening (NBS) resulting in high preventable disease burdens. Currently, the country only has 1 newborn screening project which will be relaunched and aimed to cover 30-40% of babies. Health policy plays a huge role in determining the day-to-day lives of children, families, and health professionals and researchers hope this study will encourage all stakeholders to prioritize and engage with NBS.

Aim: Understand the lived experiences of patients and families with late and early diagnosis of CAH in Indonesia; raise awareness of the importance of NBS amongst policymakers, health professionals, and the public; and support advocacy efforts to expand and scale the program in Indonesia.

Methods: This qualitative study involved 40 interviews of parents of CAH patients across Indonesia to understand their experiences with CAH (informed consent, voluntary participation). The data analysis was conducted through thematic analysis. Ethics was secured from the Faculty of Medicine, Universitas Indonesia.

Results: Families with a late diagnosis of CAH have had negative experiences and challenges compared to patients with an early diagnosis (through NBS). Parents highlighted challenges with gender misalignment, forcing them to consider changing the identification of their child once CAH was diagnosed later in life. The lack of educational and monetary resources was consistently highlighted as a major challenge. Parents living in remote areas had trouble obtaining medication due to transportation costs, resulting in children having to skip doses for periods at a time. Educational resources free of medical jargon were highly valued. Parents wanted the opportunity to learn more about CAH, however, access to simplified resources was difficult. Parents' concerns extended broadly and included their child's interpersonal relationships, self-esteem, and overall well-being.

Conclusion: The study findings demonstrate an urgent need to expand and scale NBS for CAH in Indonesia. NBS provides the opportunity for early intervention, leading to enhanced child outcomes. Further, developing educational resources with limited medical jargon, increasing affordable access to essential medication, and equipping families with psychological support to manage CAH are crucial in increasing the quality of life for children and parents. This study provides initial insights into challenges associated with late diagnosis of CAH; further research in this area can be considered critical. NBS possesses the potential to prevent devastating outcomes for children and families.