The KCNA2 & Rare Epilepsy’s Podcast

kcna2epilepsy
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Welcome to KCNA2 & Rare Epilepsy Podcast, a podcast created for the people living this journey and the people working to understand it. Each episode, hosted by Dr. Nancy Musarra, invites listeners into honest, generous, and sometimes vulnerable conversations with parents, researchers, clinicians, and board members to discuss the daily experiences of living with KCNA2, seizures, and other rare forms of epilepsy. You’ll hear stories, questions, and hopes from people who understand and are living with this disease. Our mission is to raise awareness, build connections and foster hope. This isn’t a science podcast (though you’ll learn a lot), our focus is on belonging and education. Together, we can move towards better treatments, clinical trials and ultimately, a cure. 

  1. 2d ago

    Rare Epilepsy Research, Precision Medicine & the Future of Genetic Therapies

    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 research, Dr. Driedger explains how researchers study rare conditions, why international collaboration is essential, and how questions from families can directly influence research priorities. They also explore KCNA2 and other ion channel disorders, gain-of-function, loss-of-function and mixed-function variants, stem-cell research, clinical trials, and the promise of antisense oligonucleotides (ASOs) and other precision-medicine approaches. Dr. Driedger also discusses the PROTECT clinical trial for Tuberous Sclerosis Complex (TSC) and why early, preemptive treatment may help researchers rethink how some genetic neurological conditions are treated. One of the most hopeful messages from the conversation: after years of learning how genetic changes cause disease, researchers are increasingly able to use that knowledge to develop new therapeutic approaches. As Dr. Driedger says, “we are entering right now into a new era of treatment.” Learn more about KCNA2, family resources, research, and the KCNA2 community: https://www.kcna2epilepsy.org/ Subscribe to The KCNA2 & Rare Epilepsy Podcast for conversations with families, researchers, clinicians, advocates, and others working to improve life for people affected by KCNA2 and rare epilepsies. This podcast is for educational and informational purposes and is not a substitute for individualized medical advice. Please discuss medical decisions with your healthcare team. #KCNA2 #RareEpilepsy #RareDisease #GeneticEpilepsy #EpilepsyResearch #PrecisionMedicine #GeneTherapy #ASO #AntisenseOligonucleotides #PediatricNeurology #Neurology #Epilepsy #RareDiseaseResearch #ClinicalTrials #TSC #TuberousSclerosis #KCNA2Community

  2. Aug 6

    He’s an Overcomer: Life With Mixed-Function KCNA2 with Dr. Nancy Musarra and Dawn Walters

    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 activities he loves. They also discuss neurological fatigue, the emotional impact of losing abilities, caregiver respite, Medicaid waiver services, adaptive equipment, and the importance of finding a community that truly understands life with rare epilepsy. Despite the challenges, Dawn describes Matthew as an overcomer whose perseverance, strength, joy, and determination continue to inspire everyone around him. This episode includes honest discussion of developmental regression, mobility loss, depression, swallowing difficulties, and the realities of caring for a child with complex medical needs. Some listeners may find portions of the conversation emotionally difficult. Listen to part one of this two-part series with Nancy and Dawn here: https://kcna2epilepsy.podbean.com/e/dawn-walters-part-1/ Learn more about KCNA2 and connect with the community: https://kcna2epilepsy.org Subscribe and share this episode so more families affected by KCNA2 and rare epilepsy can find support, information, and hope.

  3. Jul 30

    Drop Seizures, Genetic Testing & an Unstoppable Child with Dawn Walters and Dr. Nancy Musarra

    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 receiving a KCNA2 diagnosis, and the complicated emotions that can come with raising a child with significant medical, developmental, and physical needs. Throughout the episode, Dawn also celebrates Matthew’s determination, humor, joy, and ability to exceed expectations. She reflects on the importance of school inclusion, meaningful friendships, community support, and recognizing that communication and connection can take many forms. This episode includes open discussion of seizures, breathing difficulties, injuries, hospitalization, disability, and the emotional realities of caregiving. Some listeners may find portions of the conversation difficult. In Part 2, Dawn and Dr. Musarra will continue the conversation by discussing Matthew’s transition into adolescence and high school. Subscribe and share this episode to help more families, caregivers, clinicians, researchers, and rare-disease advocates find the conversation. Learn more about KCNA2 and rare epilepsy: https://kcna2epilepsy.org #KCNA2 #RareEpilepsy #EpilepsyAwareness #GeneticEpilepsy #RareDisease #CaregiverStories #SpecialNeedsParenting #SeizureAwareness #DisabilityInclusion #GeneticTesting #TonicClonicSeizure #MyoclonicSeizures #RareDiseaseCommunity #ParentAdvocacy #TheKCNA2Podcast

  4. Jul 23

    A Mother’s Journey Raising a Son with Autism and Epilepsy with Colleen Baker and Dr. Nancy Musarra

    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 navigating medications, hospital stays, epilepsy monitoring, and a vagus nerve stimulator. She also reflects on sibling relationships, caregiver grief, self-care, school accommodations, IEPs, 504 Plans, and the importance of a strong support team. The conversation also highlights Joseph’s love of art and how that passion grew into Artfully Joe, a meaningful creative outlet and small business. Explore Joe’s art: https://artfully-joe.myshopify.com/ This episode offers encouragement and practical insight for parents, caregivers, educators, and anyone supporting a person with autism, epilepsy, or other complex needs. Please subscribe, share, and leave a comment with your questions or experiences. Learn more about KCNA2 and rare epilepsy: https://kcna2epilepsy.org #KCNA2 #RareEpilepsy #EpilepsyAwareness #AutismAwareness #AutismAndEpilepsy #SpecialNeedsParenting #CaregiverSupport #DisabilityInclusion #InclusiveEducation #SpecialEducation #IEP #504Plan #TonicClonicSeizure #VagusNerveStimulation #VNS #CaregiverSelfCare #RareDisease #Neurodiversity #ArtfullyJoe #KCNA2Podcast

  5. Jul 9

    Genetic Testing for Epilepsy: What Happens After the Results? With Gillian Prinzing & Nancy Musarra

    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 decisions, support, research, registries, and future clinical trials? We also talk about the emotional side of receiving results, how families cope with uncertainty, and why genetic answers can still matter even when there is no immediate treatment. If you haven’t watched part one yet, start here: Genetic Testing in Rare Epilepsy: What Families Need to Know -- https://www.youtube.com/watch?v=-KS5-eCKBHE or https://kcna2epilepsy.podbean.com/e/gillian-prinzing-episode-1 Learn more at: https://www.kcna2epilepsy.org/ Whether you're a parent, caregiver, clinician, researcher, or someone living with a rare epilepsy diagnosis, this conversation offers clarity, compassion, and practical insight.

  6. Jul 2

    Why Some Nonprofits Grow While Others Burn Out With Loree Lipstein & Dr. Nancy Musarra

    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 work. She explains how small organizations can move from reactive fundraising to a more proactive, structured approach by focusing on relationships, building the right systems, using donor data wisely, and creating realistic strategies that support long-term growth. This conversation is especially helpful for nonprofit founders, patient advocacy leaders, rare disease organizations, and anyone trying to build a mission-driven organization with limited time, limited staff, and big goals. In this episode, we discuss: • why fundraising feels hard for many founders • how to reframe fundraising as relationship-building • why a CRM matters from the very beginning • common mistakes small nonprofits make • realistic fundraising strategies for small teams • how global organizations can build meaningful donor connections • why individual giving matters more than many people realize • how to avoid burnout and build sustainably Learn more about Thread Strategies: https://www.threadstrategies.com/ Learn more about KCNA2 Epilepsy: https://www.kcna2epilepsy.org/

  7. Jun 25

    Janice Hrabak Shares Her Family’s KCNA2 Journey with Dr. Nancy Musarra

    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 full of practical insight for parents, caregivers, clinicians, and researchers. Janice reflects on what helped most, how her daughter has grown over time, and why advocacy, community, and second opinions matter so much in the rare disease journey. In this episode, we discuss: ▸ early signs before diagnosis ▸ seizures and medication experiences ▸ speech, language, and ataxia ▸ IEPs, therapies, and school accommodations ▸ cerebellar atrophy and balance challenges ▸ late genetic testing and finding the KCNA2 community ▸ sibling relationships and family support ▸ advice for parents navigating rare epilepsy If this episode resonates with you, please subscribe, share, and help us raise awareness for KCNA2 and rare epilepsy.  Learn more on our website: www.kcna2epilepsy.org

  8. Jun 18

    Her Fight Is My Fight: Sarah Tompkins on KCNA2 Epilepsy, Seizures & Motherhood

    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, and the emotional reality of advocating for your child when you know in your gut that something is not right. This conversation also brings a unique perspective: Sarah later learned that she carries the KCNA2 mutation too. She opens up about her own childhood epilepsy, how her experience differs from Arya’s, and what it means to navigate rare epilepsy as both a mother and someone personally connected to the condition. This episode is about advocacy, resilience, and the power of community for families living with rare epilepsy. Learn more about KCNA2 Epilepsy on our website https://www.kcna2epilepsy.org/  #KCNA2 #RareEpilepsy #EpilepsyAwareness #GeneticEpilepsy #RareDisease #CaregiverJourney #EpilepsyMom #SeizureAwareness #RareDiseaseCommunity #KCNA2Podcast

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Welcome to KCNA2 & Rare Epilepsy Podcast, a podcast created for the people living this journey and the people working to understand it. Each episode, hosted by Dr. Nancy Musarra, invites listeners into honest, generous, and sometimes vulnerable conversations with parents, researchers, clinicians, and board members to discuss the daily experiences of living with KCNA2, seizures, and other rare forms of epilepsy. You’ll hear stories, questions, and hopes from people who understand and are living with this disease. Our mission is to raise awareness, build connections and foster hope. This isn’t a science podcast (though you’ll learn a lot), our focus is on belonging and education. Together, we can move towards better treatments, clinical trials and ultimately, a cure. 

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