Congenital adrenal hyperplasia (CAH) is a genetic condition associated with a deficiency in cortisol and an overproduction of androgens, requiring life-long, daily medication. Little is known about the psychosocial impact of living with and treating CAH, particularly for the parents of young patients. The study was conducted by Genetic Alliance UK as part of the European Commission funded Treatment of Adrenal Insufficiency in Neonates (TAIN) Project, which aims to develop a new formulation of hydrocortisone for neonates and infants. Taking a qualitative approach, 17 semi-structured interviews were conducted in the UK with parents of children affected by CAH. Interviews were conducted face-to-face or via the telephone, and lasted approximately 1 h. They were audio-recorded, transcribed verbatim and analysed thematically with the support of Computer Assisted Qualitative Data Analysis Software, NVivo 8. As primary caregivers, parents experienced disruption to both their daily routine and sleep patterns as a result of their childs intensive medication regime. Parents reported a latent anxiety associated with getting the right dose of medication at the right time, and often found separation from their child and delegating responsibility for treatment difficult. Parents expressed concerns about the potential impact of CAH on their child in the future and in particular, their childs ability to effectively self manage their condition. Challenges associated with the rarity of the condition also emerged during interviews including: a lack of awareness of CAH amongst the medical profession; delays in getting an accurate diagnosis; disparities in care across the UK; and difficulties finding the appropriate support. In conclusion, the study offers a rare insight in to the daily experiences of families affected by CAH and has important implications for the care and treatment of the condition in the future.
Disclosure: This work was supported by the Seventh Framework Programme (CORDIS FP7) of the European Commission, Health.
16 - 20 May 2015
European Society of Endocrinology