Findings from Genetic Alliance UK’s research exploring the experiences of parents of children with a rare endocrine disorder, have been published in the Journal of Genetic Counselling. The study captured the views of parents of young children affected by adrenal insufficiency (including congenital adrenal hyperplasia (CAH)) in the UK, the Netherlands and Germany via interviews and an online survey. The project was supported by our member, Living with CAH Support Group.
The study found interesting differences between parents in the three countries. Challenges in the early years were associated with the diagnosis period, adapting to the treatment regime, accessing appropriate support and worries for the future. Parents in the UK reported additional difficulties because of the lack of a screening programme and the onus on families to prepare their own doses of medication.
The findings point to a number of ways to reduce the burden experienced by parents including a greater awareness of the condition amongst healthcare professionals and the development of treatments which are easier to administer to children. Better practical and emotional support for parents planning or expecting further children, those facing complex decisions about surgery and those delegating the responsibility of care for their child to others is needed.
We would like to say a special thank you to all of the parents who took part in the research, and to Living with CAH Support Group for their support during the project.
You can read the full paper here.
If you would like to find out more, please contact our Research Associate, Amy Simpson at [email protected]