Navigating the Diagnosis: A survey on Caregivers’ Journeys to Lennox-Gastaut Syndrome

BACKGROUND: Lennox-Gastaut Syndrome (LGS) is a rare type of childhood epilepsy diagnosed in 3-5% of children with epilepsy, characterized by evolving symptoms and no known cure. Families of these patients face unique challenges in obtaining a diagnosis. We sought to characterize the caregiver-reported diagnostic pathways, timing, and challenges in obtaining a LGS diagnosis. METHODS: A survey was developed to investigate the LGS diagnosis journey. Respondents were caregivers recruited during the LGS Foundation 9th International Family & Professional Conference (July 2024) and on the LGS Foundation's private Facebook page. Respondents represent a level of connectivity and resource access limiting generalizability to the broader caregiver population. RESULTS: Forty-three responses were collected. Most caregivers learned about their loved one's diagnosis from their epileptologist (44 %) or neurologist (42 %). The time between suspected diagnosis and formal diagnosis varied: within a month (7 %, n = 3), one month to one year (19 %, n = 8), one year to 5 years (30 %, n = 13), more than five years (28 %, n = 12). Twenty-two (44 %) participants indicated no resources were shared at the time of formal diagnosis. Caregivers identified three topics: 1) comprehensive information is needed at diagnosis; 2) caregivers educated themselves about LGS; 3) providers may have limited knowledge about LGS. CONCLUSIONS: The clinical complexities of LGS, few physicians treating rare epilepsy diseases, and inadequate resources hinder timely diagnosis and effective treatment. Caregivers experienced delays in diagnosis, communication gaps, and limited access to resources; each serving as key areas for improving clinical practices and patient centered care.