Patients with congenital adrenal hyperplasia (CAH) require life-long, daily glucocorticoid hormone replacement therapy. Currently, there is no licensed treatment for young patients and existing treatment requires adapting adult doses by crushing tablets. As primary caregivers, parents of young children with CAH often take on the responsibility for routine medication and adapting doses in times of stress or illness. There has been little research to date exploring parents experiences and the challenges associated with treating CAH. The study was conducted by Genetic Alliance UK as part of the European Commission funded TAIN (Treatment of Adrenal Insufficiency in Neonates) Project, which aims to develop a new formulation of hydrocortisone for neonates and infants. Taking a mixed methods approach, Genetic Alliance UK captured the views of parents across three European countries. In 2014, 17 semi-structured interviews were conducted in the UK and analysed thematically. In 2015, an online survey was developed, piloted and disseminated widely to parents of children under the age of six in the UK, The Netherlands and Germany. Although parents reported that their childs condition was relatively well managed, many described a number of challenges associated with the treatment regime and made suggestions for how it could be improved. Interviewees experienced a latent anxiety as well as disruption to their sleep, their daily routines and their work life. Many of the challenges were associated with the frequency of medication required and the importance of getting the right dose at the right time. Challenges were particularly acute for new parents when they left the supportive environment of the hospital. The study has provided a unique insight into the wider impact of managing CAH, particularly from the perspective of parents. It has important implications for treatment in the future, and for the care and support provided to CAH families.
28 - 31 May 2016
European Society of Endocrinology