The KCNA2 & Rare Epilepsy’s Podcast

In this episode of the KCNA2 and Other Rare Epilepsies Podcast, Nancy speaks with Michaela Lieber, a KCNA2 mom, board member, and Air Force spouse. Michaela shares her family’s journey raising her son Aaron, now 11, while navigating frequent military moves and repeatedly rebuilding specialty care from the ground up. Aaron’s seizures began at just 7 weeks old. Michaela describes the early emergency visits, stretches of normal testing, and the uncertainty that followed before genetic testing finally identified a de novo KCNA2 variant when Aaron was 2. At the time, he was one of only a handful of known cases worldwide. The conversation also explores a pivotal moment during a military deployment, when Aaron developed a second seizure type while Michaela was home alone with young children. She explains what absence seizures looked like in real life and how frightening it was to recognize something new without immediate support. Michaela offers practical insight for families who are: Managing multiple seizure types Restarting care teams after relocation Learning to advocate clearly and efficiently in short medical appointments Navigating developmental, communication, and learning challenges beyond seizures Seeking more targeted research for potassium-channel disorders like KCNA2 She shares her structured approach to advocacy, including preparing one-page summaries for appointments, staying organized, and building connections across neurologists, therapists, schools, and specialists. The episode closes with reflections on what life looks like for Aaron today, why KCNA2 is more than epilepsy alone, and what continues to give Michaela hope. Medical note: This video is for education and support and is not medical advice. Always consult your clinician for medical decisions. Follow us on our website: https://www.kcna2epilepsy.org/ #KCNA2 #RareEpilepsy #MilitaryFamily #EpilepsyAwareness #GeneticEpilepsy #AbsenceSeizures #CaregiverSupport #PatientAdvocacy

In this episode, Nancy speaks with leaders from the Rare Epilepsy Network (REN) about what it truly takes to move rare epilepsy research forward. She is joined by Eileen Miller, Director of REN and longtime parent advocate, and Karen Utley, Chair of REN’s Coordinating Committee and President and Co-Founder of the International Foundation for CDKL5 Research. Karen’s daughter, Samantha, who lives with CDKL5 deficiency disorder, is also part of the conversation, offering a real-life reminder of the daily medical complexity families manage. Together, they explain how REN began as a collaborative registry effort and grew into a network of more than 170 rare epilepsy organizations. They discuss how REN supports families who receive a diagnosis with no existing support group, how organizations share research knowledge and best practices, and why registries and natural history studies are critical to accelerating both care and cure. The episode also addresses a difficult but honest question: why does research feel so slow? Karen and Eileen speak candidly about the realities of scientific timelines, the transition from animal studies to human trials, and the complex risk decisions families are often asked to consider. They also highlight the growing role of precision medicine and the importance of pursuing a specific genetic diagnosis whenever possible. The conversation closes with practical advice for newly diagnosed families and a reminder that rare does not mean small, and no one has to face this journey alone. Topics covered include: The origin and mission of the Rare Epilepsy Network Connecting families when no diagnosis-specific group exists Research collaboration across rare epilepsies The role of registries and natural history studies Global research trends and multidisciplinary care Precision medicine in epilepsy Advocacy, hope, and navigating uncertainty Follow REN on their website: https://www.rareepilepsynetwork.org/ Follow KCNA2 on our website: https://www.kcna2epilepsy.org/ Medical note: This video is for education and support and is not medical advice.  Subscribe for more conversations focused on KCNA2 and other rare epilepsies, featuring families, clinicians, and researchers working to improve outcomes and expand access to care.

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. Follow us online at https://www.kcna2epilepsy.org/

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

The KCNA2 and Rare Epilepsy Podcast 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. Each episode of The KCNA2 and Rare Epilepsy Podcast offers clear, compassionate, and practical insights, covering topics like: 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.