The KCNA2 & Rare Epilepsy’s Podcast

What is it like to discover that the rare epilepsy affecting your child is also part of your own story? In this episode of The KCNA2 & Rare Epilepsy Podcast, host Dr. Nancy Musarra talks with Sarah Tompkins about growing up with seizures, learning challenges, anxiety, motherhood, and the unexpected discovery that both she and her daughter, Arya, have KCNA2. Sarah shares that her first seizure...

How do you prepare a child with KCNA2 or rare epilepsy for school changes, medical transitions, friendships, adulthood, and greater independence? In this episode of The KCNA2 & Rare Epilepsy Podcast, host Dr. Nancy Musarra talks with Janice Hrabak, a retired kindergarten teacher and mother of a young adult daughter with KCNA2, about navigating the many transitions families face while raising a...

What is it like to be diagnosed with Juvenile Myoclonic Epilepsy (JME) as a teenager and then learn to advocate for yourself, explore new treatment options, find community, and build a life beyond epilepsy? In this episode of The KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Musarra talks with Chevy White, a young adult living with Juvenile Myoclonic Epilepsy (JME) and an epilepsy advocate involved...

What can a patient registry really do for a rare disease community... and why does every family’s participation matter? In this episode of The KCNA2 & Rare Epilepsy Podcast, host Dr. Nancy Musarra welcomes back Dr. Jan Henji Driedger, a physician-scientist and child neurologist involved in rare genetic epilepsy research at Heidelberg University Hospital in Germany. Together, they explore the p...

What happens when your child receives a diagnosis so rare that even the doctors caring for them have little experience with it? In this episode of The KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Musarra sits down with Karen Morici, a rare disease mom and advocate whose son, Dominic, lives with PMM2-CDG, a congenital disorder of glycosylation. Karen shares the emotional journey from noticing that...

In this episode of The KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Musarra sits down with Joe Baker, a 25-year-old artist living with autism and epilepsy, along with his mother and business coordinator, Colleen Baker. Joe shares memories from childhood, including the early encouragement that helped him recognize his talent for drawing. He talks about discovering art around age eight, his love of...

In this episode of The KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Musarra sits down with Oriana Horneck to share an update on the rapidly growing world of KCNA2 research. Oriana discusses the progress being made across the globe, from natural history studies and international patient registries to drug repurposing, patient-derived cell lines, mouse models, small-molecule research, and promising...

What does rare epilepsy research actually look like—and how could today’s discoveries lead to more precise treatments tomorrow? In this episode of The KCNA2 & Rare Epilepsy Podcast, host Dr. Nancy Musarra speaks with physician-scientist Dr. Jan Henji Driedger about the rapidly changing world of rare and genetic epilepsy research. Drawing from his work in pediatric neurology and clinical resear...

In Part 2 of Dawn Walters’ story, host Dr. Nancy Musarra speaks with Dawn about her son Matthew’s teenage years and the progression of his KCNA2-related epilepsy. Dawn shares how Matthew gradually lost skills including walking, standing, and swallowing safely, and how their family adapted with mobility equipment, home modifications, nursing support, and creative ways to keep him involved in the ac...

In this heartfelt conversation, host Dr. Nancy Musarra speaks with Dawn Walters about raising her son, Matthew, who lives with KCNA2-related epilepsy. Dawn shares the early signs that something was different, including tremors, breathing changes, and seizures that were difficult for medical professionals to observe and diagnose. She describes the long path to genetic testing, the relief of finally...

n this episode of The KCNA2 & Rare Epilepsy Podcast, host Dr. Nancy Musarra speaks with educator and parent Colleen Baker about raising a son with autism and epilepsy, and how that experience transformed her life both at home and in the classroom. Colleen shares the early signs that led to her son Joseph’s autism diagnosis, the shock of his first tonic-clonic seizure, and the challenges of nav...

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...