A Qualitative Study of The Impacts of Having an Infant or Young Child With Achondroplasia on Parent Well‑Being

About this publication

This is the first study to look at how having a child with achondroplasia impacts parental well-being. It identifies four key areas and presents a theoretical model of parent experiences which may provide a framework for informing research and clinical practice.

Although the medical impacts of achondroplasia are well documented, there is more limited knowledge of the nonmedical burden, including how having an infant or young child with achondroplasia affects parents. This is important, since parents of children with complex medical needs have a greater caregiving burden, and there are additional challenges for the parents of children with a rare condition – including lack of information and support, and the limited experience of healthcare providers. This study aimed to investigate the experiences of 15 parents of children with achondroplasia under the age of 2.

Results showed that parents are affected in four key domains: caretaking responsibilities, emotional well-being, worries and concerns about the child, and impact on daily well-being. Parental physical health, work, social wellbeing, and family life are also affected by having a young child with achondroplasia, and over two-thirds report feeling stressed or overwhelmed. The model developed illustrates common symptoms of achondroplasia in infants and young children, and both the major and minor impacts on their parents. EU-ACH-00350