In this episode of the KCNA2 and Other Rare Epilepsies Podcast, Nancy speaks with Oriana Hornick, a longtime KCNA2 community member, KCNA2 Epilepsy Foundation board member, and research coordinator. Oriana is also the mother of Avery, now 9, who was diagnosed with KCNA2-related epilepsy in infancy.

Oriana walks through Avery’s early medical journey, including seizure concerns within hours of birth, a NICU stay, repeated EEGs, and starting anti-seizure medication while living abroad. At the time, she and her husband were teaching internationally, and Avery was born in Rio de Janeiro. The episode explores what it meant to navigate early uncertainty, language barriers, and complex medical decisions far from extended family.

The conversation also examines how KCNA2 can affect much more than seizures. Oriana discusses feeding challenges that led to a G-tube and later a GJ-tube, significant developmental delays, mobility limitations, and the adaptive equipment that supports Avery’s daily life. She explains how eye-gaze communication technology has opened new possibilities for expression and why their family chose an inclusive classroom setting with typical peers.

In addition, Oriana reflects on the importance of community, the urgency of coordinated research for rare epilepsies, and what she wants newly diagnosed families to know: take it one day at a time. Living in the present, even amid uncertainty, can protect the moments that matter most.

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

Visit our website: https://www.kcna2epilepsy.org/

#KCNA2 #RareEpilepsy #GeneticEpilepsy #DisabilityInclusion #AAC #EyeGaze #FeedingTube #CaregiverSupport #RareDisease

In this episode of the KCNA2 and Other Rare Epilepsies Podcast, Nancy Musarra is joined by two emergency room physicians, Dr. Katie Robottom and Dr. Rosetta Robottom, a mother-daughter team with decades of combined experience caring for patients with seizures in the ER.

Together, they provide a clear and practical look at what actually happens when someone arrives in the emergency department after a seizure. They explain the immediate priorities in the ER, including airway, breathing, circulation, and injury prevention, and why those first few minutes are so focused and structured.

The conversation breaks down the difference between a first-time seizure and a breakthrough seizure in someone with a known diagnosis. The doctors outline what history they are trying to gather, what tests are typically ordered, and why emergency physicians are cautious about labeling someone with a “new seizure disorder” before neurology confirms it. They also explain febrile seizures, when imaging is necessary, and what determines whether a patient is admitted or safely discharged.

For families and caregivers, this episode offers practical guidance on:

• What information to bring to the ER, including medication lists, dosing schedules, seizure patterns, triggers, and rescue medications

• Why a one-page emergency summary can make a significant difference

• When video of a seizure can be helpful to neurologists

• What to do, and what not to do, while waiting for EMS

• Why seizures can have multiple possible causes, even in someone who already has epilepsy

The doctors close with reassurance that while seizures are frightening for families, ER teams are trained to respond quickly and methodically, and their primary goal is to keep your loved one safe.

Medical note: This video is for education and support and is not medical advice. Always follow your clinician’s guidance for your specific situation.

Please visit our website: https://www.kcna2epilepsy.org/

#SeizureFirstAid #Epilepsy #EmergencyRoom #SeizureSafety #KCNA2 #RareEpilepsy #CaregiverSupport#seizurefirstaid #Epilepsy #EmergencyRoom #SeizureSafety #KCNA2 #RareEpilepsy #CaregiverSupport

If your child has seizures and a KCNA2 diagnosis, life can feel confusing, isolated and scary. The KCNA2 and Rare Epilepsy Podcast, hosted by Dr. Nancy Musarra, is a supportive, parent-informed show for parents, caregivers, clinicians, and researchers living and working with KCNA2-related epilepsy and neurodevelopmental disorders (and the wider rare epilepsy community).

KCNA2 is a gene that helps control how brain cells communicate. When the potassium channel it encodes doesn’t function correctly, individuals may experience hard-to-treat seizures, balance and coordination challenges (ataxia), speech and learning differences, and sleep and behavioral struggles, often with wide variation from one person to the next.

• Explaining KCNA2 in plain language and practical steps from parents, caregivers, medical providers, researchers and more who live and work in this field.
• Insights on how to build a strong medical, familial and therapy care team
• School supports, accommodations, and IEPs/504 plans
• Understanding co-occurring conditions like autism and ADHD
• Exploring “whole-child” support (including food, sleep, play, and daily habits) that amplify overall wellness for those with KCNA2 and their loved ones
• Research updates, clinical trials, fundraising and how families can get involved
• And more

The KCNA2 and Rare Epilepsy Podcast is not medical advice and is not a miracle-cure show. It’s a place to learn and find steadier footing so you feel more connected to a community living and working in this vital space.

As a listener, our goal is to help you stay connected to the growing momentum in KCNA2 and rare epilepsy research, support and knowledge.

Follow The KCNA2 and Rare Epilepsy Podcast on your favorite podcast app, and visit kcna2epilepsy.org to connect with our community and stay up to date on resources, research, and ways to get involved.