Diagnostic Journey of Dravet Syndrome

This segment highlights the lived experience of families navigating the path to a Dravet syndrome diagnosis. Caregivers describe how early seizures often began unexpectedly and were frightening due to never seeing a seizure before. These initial events were frequently prolonged and led to emergency medical care. These seizures were commonly labeled as complex febrile seizures, resulting in families being reassured and sent home. As seizures recurred, sometimes increasing in duration and severity, families encountered repeated hospital visits, extensive testing, and long periods of uncertainty. Despite normal findings on EEGs, MRIs, and other evaluations, the absence of clear answers delayed definitive diagnosis. Genetic testing eventually identified SCN1A mutations, but even then, families were often advised to wait for developmental changes before a diagnosis could be confirmed. This segment underscores the emotional toll, frustration, and variability of the diagnostic journey, emphasizing the critical role of specialist evaluation in achieving diagnostic clarity.