The seen and unseen facets of Dravet syndrome across the disease trajectory: insights from European ethnographic research

Abstract

Background: We investigated the lived experiences of individuals within the ecosystem of Dravet syndrome (DS) (patients, families, healthcare professionals, patient representatives) to gain a holistic understanding of the reality of caring for an individual with DS. Methods and Results: Using ethnographic methodology, we interviewed and observed five families (seven parents) of children (aged 2–10 years) with DS, 21 healthcare professionals at five specialized epilepsy units, and 16 personnel working for patient organizations across France, Germany, Italy, Spain, and the UK, to explore aspects of daily life with DS. Observations from the study participants demonstrated that families are impacted by multiple factors within the DS ecosystem, in terms of position in society, daily life and environment, and family dynamics. Parents’ informational, logistical, economic, and psychological needs differ over the course of the disease (first seizure, quest for diagnosis, diagnosis, reconfiguration, trial and error, stabilization, adjustments, adolescence, adulthood) in response to practical and emotional challenges. A framework was developed to define how parents cope and manage the information provided to them and the choices they must negotiate as the DS journey evolves. Four key territories of opportunity were identified. Conclusions: Families of children with DS have complex and changing challenges related to different phases of their child’s development and disease progression. Our findings may assist those working with families to identify key challenges and provide support specific to individual needs. Our findings could help clinicians adapt their communication, ultimately improving the quality of care provided and the quality of life of the different stakeholders