Pelentsov, Lemuel, O'Shaughnessy, Peter, Laws, Thomas A., and Esterman, Adrian J. (2016) Parenting a child with a rare genetic disorder. In: Merrick, Joav, (ed.) Children and Childhood: some international aspects. Pediatrics, Child and Adolescent Health . Nova Science Publishers, New York, NY, USA, pp. 125-132.

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Abstract

Parenting a child with a rare genetic disorder has special difficulties, because diagnosis may be delayed or undetermined, support groups may be small and geographically scattered, and healthcare skills and resources limited. Ectodermal dysplasia (ED) is a lifelimiting condition of the central and peripheral nervous systems. It is associated with significant infant morbidity and mortality, with risks greatest in the first two years of life. For parents caring for a child with ED, this period is often a time of stress and uncertainty. Currently, there is a dearth of literature which reports on the experiences and support needs of parents caring for a child with ED. The aim of this chapter was to provide an in-depth account of the experiences and supportive care needs of parents caring for a child with ED. Methods: A mixed methods design was employed which used focus group data to aid in the development of an internationally distributed internet survey. Results: 126 parents from 14 countries responded to the survey. Five themes were identified; the need for early diagnosis, breastfeeding difficulties in mother carriers with ED, parental decision making, relational impacts and social support issues. Discussion: To our knowledge, this is the first study which identified and examined the experiences and support needs of parents within this rare genetic disorder. Further research into the areas outlined in this study is warranted to expand the knowledge and awareness gaps.

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