Living With KCNA2 Epilepsy: One Father’s Story of Seizures, Strength & Hope with Jeffrey Gomez

In this episode of the KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Musarra sits down with Jeffrey Gomez to talk about his daughter’s journey with KCNA2-related rare epilepsy. Jeffrey shares how his daughter’s seizures began just before her first birthday, changing what should have been a joyful family celebration into the beginning of a long and frightening medical journey. He talks about the early hospital visits, the uncertainty around her symptoms, the emotional stress of emergency testing, and the heartbreak of watching seizures continue without control. He also reflects on how hard it was to search for answers while navigating care, learning unfamiliar medical language, and trying to understand what was happening to his child. Dr. Musarra and Jeffrey also discuss the long road to genetic testing and diagnosis. Jeffrey explains how years passed before more advanced sequencing revealed a change in the KCNA2 gene. Their conversation highlights how confusing genetic results can feel for families and why support from rare disease communities can make such a difference. The episode also explores daily life beyond the diagnosis. Jeffrey shares how his daughter experienced delays in speech, language, and motor development, and how his family used pictograms, sign language, flashcards, and other visual supports to help her communicate. He also talks about the challenges and progress of raising a bilingual child with communication delays, offering hope to families who are still waiting for language to emerge. Jeffrey speaks openly about school, autism, mobility challenges, safety concerns, and the need for meaningful support both at home and in the classroom. He offers an honest perspective as a parent who has learned through experience how important it is to ask questions, connect with other families, and keep looking for resources that truly help. His message is clear. Community matters, shared knowledge matters, and no family should have to figure this out alone. This is a heartfelt and encouraging conversation about what it really means to live with rare epilepsy. It speaks to the emotional, developmental, and practical realities families face, while also holding onto hope for better treatments, stronger support, and future breakthroughs such as gene therapy. Whether you are a parent, caregiver, family member, clinician, researcher, or someone newly navigating a KCNA2 diagnosis, this episode offers insight, connection, and encouragement. Learn more about KCNA2 on the foundation's website: https://www.kcna2epilepsy.org/ #KCNA2 #RareEpilepsy #EpilepsyAwareness #RareDisease #GeneticEpilepsy #KCNA2Community #CaregiverSupport #SpecialNeedsParenting #RareDiseaseAwareness #HopeForACure