In this episode, Barbara Wolf shares her family’s journey with KCNA2-related epilepsy as the mother of Ella, now an adult living with the condition.

Barbara reflects on the earliest signs that something was not typical, including subtle blinking episodes that were later recognized as possible seizures, developmental shifts, and persistent crying that raised early concerns. She describes years of medical appointments focused primarily on seizure control, including experiences with the ketogenic diet, before genetic testing finally provided clarity. Because KCNA2 was not included on earlier testing panels, Ella’s diagnosis did not come until she was 21.

Barbara discusses what that diagnosis conversation looked like at the time, what was known about KCNA2 then, and how treatment decisions were made, including the use of 4-aminopyridine (4-AP) for gain-of-function KCNA2 and the careful monitoring required.

The episode also explores daily life today. Barbara speaks openly about managing ataxia and balance changes, the transition to using a walker, and how to support independence while maintaining safety. Most importantly, she shares who Ella is beyond the diagnosis: her personality, her presence, and the way she connects with others. As Barbara says, Ella is not defined by KCNA2.

This conversation offers perspective for families navigating delayed diagnoses, evolving symptoms, and the transition into adulthood with a rare genetic epilepsy.

Medical note: This video is for education and support and is not medical advice.

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