Living with an invisible illness: a qualitative study exploring the lived experiences of female children with congenital adrenal hyperplasia

Purpose Many chronic illnesses are self-evident. However, disorders like congenital adrenal hyperplasia (CAH) are invisible to the naked eye and unnoticeable to others. Therefore, invisible illness is often a shared, misconstrued experience for children with CAH, their caregivers, and the medical community. This experience, along with its lack of awareness and added stigma, may impact overall quality of life (QOL) of such individuals. To facilitate our understanding of QOL of children with CAH, we must first explore their subjective experiences. This study aimed to capture their lived experiences and provide recommendations to support children with CAH. Methods We conducted semi-structured interviews with 20 female children with CAH between 7 and 18 years and their caregivers. Interviews were transcribed verbatim, checked for accuracy, and independently coded by the first and second author. Content analysis was used to organize data so that codes could be condensed into categories and themes. Differences around code, category, and theme description were reconciled. Results Participants' experiences were described in five themes: (1) Making sense of the situation; (2) Emotional and psychological impact of an invisible illness; (3) Normalcy; (4) Disclosure of diagnosis; and (5) Improving the care of children with CAH Conclusion Exploring children's views about living with an invisible illness illuminated individual aspects contributing to our in-depth understanding of experiences of children with CAH. Ongoing education and awareness of CAH is necessary to help mitigate the stigma associated with living with CAH.