The lived experience of parents with children with genetically solved developmental and epileptic encephalopathies : a thesis presented in partial fulfilment of the requirements for the degree of Doctor of Clinical Psychology at Massey University, Wellington, New Zealand

Abstract

Parents of children with developmental and epileptic encephalopathy (DEE) are at high risk of developing mental health difficulties due to caregiver burden and the unpredictability of seizures. Identifying genetic pathogenic variants improves clinical outcomes for children with DEE by directing therapy and enabling accurate reproductive and prognostic counselling for families; however, the additional personal value of a genetic diagnosis is currently under appreciated. The present research aimed to explore parental experiences of having a child with DEE and the personal utility of a genetic diagnosis for families.

Using the qualitative methodology of Interpretative Phenomenological Analysis (IPA), in-depth semi-structured interviews were conducted with fifteen families (seventeen parents) of children with a genetically solved DEE. The interviews stimulated discussion about the lived experience of caring for a child with a DEE when parents did not have a genetic answer, as well as what their experience was after they had received a genetic diagnosis.

Families discussed the detrimental impact of living with constant uncertainty regarding the aetiology of their child’s DEE prior to the genetic diagnosis, which (in combination) with the uncertainty of seizures resulted in common trauma coping responses, such as hyperarousal, reactivity, vigilant monitoring, and avoidance behaviours. The diagnostic uncertainty prompted families to search for answers and attribute blame to themselves or others when they were unsuccessful. With regard to the genetic diagnosis, families reported that receiving a genetic label improved their knowledge about the likely trajectory of the DEE, increased their hope for the future and helped them communicate with others. The relief of finally having an answer for the cause of their child’s DEE alleviated parental guilt and self-blame as well as helped families to process their grief and move forward. Delay in receipt of a genetic diagnosis diluted its psychological impact.

To date, the factors associated with the development of posttraumatic stress symptomology in parents of children with epilepsy have focused on caregiver burden and seizure frequency. The present study demonstrates that uncertainty regarding the aetiology of their child’s DEE may also contribute to the development of trauma responses in parents. In addition, the current research also demonstrates that identifying a genetic diagnosis for a child’s DEE may be a psychological turning point for families. Consequently, early access to genetic testing is therefore important as it not only increases clinical utility, but also increases personal utility with early mitigation of family stress, trauma, and negative experiences.