Developmental and epileptic encephalopathies (DEEs) represent a diverse set of chronic neurodevelopmental conditions. This condition is typically noticed in early childhood and is characterised by severe, drug-resistant seizures and developmental delay or regression.
The person who has epilepsy may feel helpless, scared, worried or have a host of feelings. Family members and close friends may feel these things too. The hidden and unpredictable nature of epilepsy makes it even harder for families.
Most children will not inherit epilepsy from a parent, but the chance of inheriting some types of epilepsy is higher. In fact, a significant proportion of children with DEEs die in childhood. And those that survive have very significant health challenges.
What impact can that have on families?
Families of children with epilepsy are more likely than families of healthy children to experience social and marital issues, impaired parent-child relationships, and higher levels of stress, depression and anxiety.
The effects of epilepsy extend beyond those with the diagnosis and impact on families, communities and society. Caregiver and sibling quality of life is often negatively affected by frequent seizures, comorbid behavioural, sleep disorders and more that may lead to carer burnout.
According to the study “Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy,” loneliness, vulnerability, and isolation of parents were extensively seen after receiving their child’s genetic diagnosis. Some of them relayed that limited understanding of the seriousness of their child’s genetic DEE among friends and individuals outside the family adversely influenced their social relationships.
What can health services do better / learn from this research and workshop Kris organised?
Parents frequently communicated a longing to connect with other parents who shared mutual experiences and understood the struggle of raising a child with a genetic DEE. Many parents expressed their desire to translate the information they had acquired during their child’s diagnostic journey to support other families with genetic DEE.
Integrated psychosocial resources, including tailored psychological support, diagnosis-specific information, and peer-to-peer support, are priority areas to complement genetic services. To achieve and identify the need towards improving the services, Genetic Epilepsy Team Australia (GETA) convened a roundtable that included families, clinicians and researchers.
GETA is a group of parents whose children have rare genetic epilepsy. Their children have different kinds of epilepsy, but there are so many things and skills they can share within and outside their circle. GETA’s goal is to support the ground-breaking research in Australia – from stem cells to mouse models to biotech and beyond.
Kris Pierce is a rare disease advocate and mother to Will, who has SCN2A, and one of the founders of GETA discussed the outcomes of the roundtable and the organisation’s future plans. You can listen to the podcast here, where Kris discusses the primary purpose of the meeting is to gather and discuss a realistic picture of the current experiences of the families living with genetic epilepsy.
How can you help guide future service delivery for DEEs?
As a family member of someone with comorbidity, it is vital to find a platform where you can share your experiences and the daily impact of genetic epilepsy. To gather information to help you inform you with health and disability events that may help you and your child.
Epilepsy’s impact extends beyond those affected by seizures to other members of the family. What can you do now? Complete the survey from Genetic Epilepsy Team Australia / Epilepsy Foundation.