The KCNA2 & Rare Epilepsy’s Podcast

In part two of our conversation with genetic counselor Gillian Prinzing from Boston Children’s Hospital, we take a deeper look at the pros and cons of genetic testing in rare epilepsy. This episode explores the real questions families ask after testing: What happens when results are uncertain? What if a diagnosis brings more questions instead of answers? How can genetic testing help with treatment...

What does it really take to grow a small nonprofit without burning out? In this episode of the KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Musarra talks with Loree Lipstein, CEO and Founder of Thread Strategies, about practical fundraising strategies for small nonprofit organizations. Loree shares why fundraising is not about pressuring people for money, but about inviting them into meaningful wo...

In this episode of the KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Musarra speaks with Janice Hrabak, a mother whose daughter was not genetically diagnosed with KCNA2 until age 19. Janice shares her family’s journey through early seizures, developmental differences, speech and motor challenges, school supports, therapies, and the long road to answers. This conversation is honest, hopeful, and ful...

In this episode of the KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Musarra speaks with Sarah Tompkins, a mother from Alberta, Canada, about her daughter Arya’s KCNA2 diagnosis and the long, difficult road to getting answers. Sarah shares what it was like to recognize that something was wrong long before doctors confirmed it, the fear and frustration of watching Arya experience repeated seizures,...

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 ear...

In this episode of the KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Msara speaks with licensed genetic counselor Gillian Prinzing from Boston Children’s Hospital about genetic testing in epilepsy. They talk through what genetic testing is, why it may be recommended, the different types of testing families may hear about, and what results like a diagnosis or a variant of uncertain significance (VUS...

In Part 2 of this series of the KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Musarra continues her conversation with Dr. Erika Gray, pharmacist and Chief Medical Officer of Toolbox Genomics, to explore how pharmacogenomics and genomics may help families make more informed treatment decisions. This episode focuses on how the body processes anti-seizure medications, why some people break down medica...

In this episode of the KCNA2 & Rare Epilepsy Podcast, Monica Lopez Morales returns for a powerful and deeply honest conversation about the connection between epilepsy and mental health. Drawing from more than four decades of lived experience, Monica shares how epilepsy can affect far more than seizures alone, touching anxiety, depression, PTSD, stigma, isolation, and the daily emotional weight...

In this episode of the KCNA2 & Rare Epilepsy Podcast, Nancy sits down with Dr. Erika Gray, pharmacist and Chief Medical Officer of Toolbox Genomics, to break down the difference between genetics and genomics in a way families can actually understand. Together, they talk about how gene variants like KCNA2 can affect potassium channels, why gain-of-function and loss-of-function matter, how genom...

In this episode of the KCNA2 & Rare Epilepsy Podcast, we welcome back epilepsy advocate Monica Lopez Morales for an honest and empowering conversation about what it really means to live with epilepsy. Monica shares her lived experience, the stigma and isolation many people face, and why epilepsy education matters so much for families, caregivers, clinicians, and the wider community. Together,...

What does a KCNA2 diagnosis actually mean, and how do researchers study rare epilepsies? In this episode of the KCNA2 & Rare Epilepsy Podcast, Nancy speaks with Dr. Ulrike (Uli') Hedrich-Klimosch, a researcher in Germany focused on epilepsy, ion channels, neuronal networks, and KCNA2-related disease. Together, they break down complex ideas in a way families can understand, including what a cha...

This conversation goes beyond definitions and medical terms. It brings real clarity to what epilepsy looks like day to day, the stigma many people still face, and why awareness matters. Together, Nancy and Monica explore: What seizures can feel like from the inside The early signs and diagnosis journey How epilepsy impacts not just the individual, but the entire family The challenges of finding th...

What does neurologically focused chiropractic care actually look like for children with KCNA2, epilepsy, developmental delay, motor challenges, and nervous system dysregulation? In this episode of the KCNA2 & Rare Epilepsy Podcast, Nancy sits down with Dr. Nate DeJong of Highest Health Chiropractic Care to talk about how he evaluates the nervous system, what families may notice first when care...

If you’ve just received a KCNA2 diagnosis or you’re still searching for answers, this video is for you. KCNA2-related disorders are rare, complex, and often overwhelming at first. You may be feeling scared, confused, or unsure of what comes next. But one thing we want you to know right away: you are not alone. In this video, Alysha Applebaum, parent and board member on the KCNA@share2 Epilepsy fou...

In this episode of the KCNA2 and Other Rare Epilepsies Podcast, Nancy speaks with McKayla Leber, a KCNA2 mom, board member, and Air Force spouse. McKayla 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. McKayla describes the early emergency vis...

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 wi...

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 m...

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...

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...

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 com...