An urgent need for early diagnosis and universal health care: insights from a series of interviews with parents of children living with congenital adrenal hyperplasia in Indonesia

Abstract

Congenital adrenal hyperplasia (CAH) presents significant health challenges and requires a timely diagnosis and comprehensive treatment. This qualitative study assessed the experiences of parents of children with CAH in Indonesia, and focused on the challenges associated with delayed diagnosis. In-depth interviews with 40 parents of children with CAH from 9 Indonesian provinces were conducted between December 2022 and January 2023. The results revealed parents experienced challenges due to the absence of a newborn screening program (NBS) and the minimal capacity of healthcare professionals to diagnose CAH. Parents reported having emotional stress, financial challenges, and social stigma. Fludrocortisone and 17-OHP are not covered by the national health insurance, thus financial challenges prevailed. The impact of late diagnosis was also notable in their children; parents reported that their children had tendencies to self-isolate, insecurities, temperamental behavior, and masculine behavior (for females). These findings emphasize the critical need for the NBS to implement early diagnosis, increase healthcare professionals' capacity to diagnose CAH, and ensure accessible and affordable healthcare policies for patients with CAH. Addressing these gaps is essential for improving the quality of life for children with CAH and their families in Indonesia.

Keywords: challenges; congenital adrenal hyperplasia; delayed diagnosis; newborn screening; universal healthcare.