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. 1d ago

    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

  2. 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.

  3. 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/

  4. 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

  5. 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

  6. Jun 11

    Living With KCNA2 Epilepsy: One Father’s Story of Seizures, Strength & Hope with Jeffrey Gomez

    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 early hospital visits, the uncertainty around her symptoms, the emotional stress of emergency testing, and the heartbreak of watching seizures continue without control. He also reflects on how hard it was to search for answers while navigating care, learning unfamiliar medical language, and trying to understand what was happening to his child. Dr. Musarra and Jeffrey also discuss the long road to genetic testing and diagnosis. Jeffrey explains how years passed before more advanced sequencing revealed a change in the KCNA2 gene. Their conversation highlights how confusing genetic results can feel for families and why support from rare disease communities can make such a difference. The episode also explores daily life beyond the diagnosis. Jeffrey shares how his daughter experienced delays in speech, language, and motor development, and how his family used pictograms, sign language, flashcards, and other visual supports to help her communicate. He also talks about the challenges and progress of raising a bilingual child with communication delays, offering hope to families who are still waiting for language to emerge. Jeffrey speaks openly about school, autism, mobility challenges, safety concerns, and the need for meaningful support both at home and in the classroom. He offers an honest perspective as a parent who has learned through experience how important it is to ask questions, connect with other families, and keep looking for resources that truly help. His message is clear. Community matters, shared knowledge matters, and no family should have to figure this out alone. This is a heartfelt and encouraging conversation about what it really means to live with rare epilepsy. It speaks to the emotional, developmental, and practical realities families face, while also holding onto hope for better treatments, stronger support, and future breakthroughs such as gene therapy. Whether you are a parent, caregiver, family member, clinician, researcher, or someone newly navigating a KCNA2 diagnosis, this episode offers insight, connection, and encouragement. Learn more about KCNA2 on the foundation's website: https://www.kcna2epilepsy.org/ #KCNA2 #RareEpilepsy #EpilepsyAwareness #RareDisease #GeneticEpilepsy #KCNA2Community #CaregiverSupport #SpecialNeedsParenting #RareDiseaseAwareness #HopeForACure

  7. Jun 4

    Genetic Testing in Rare Epilepsy: What Families Need to Know with Gillian Prinzing & Nancy Musarra

    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) can mean in real life. They also discuss retesting, reanalysis, family testing, and why genetic results are meant to inform care, not define a person. This episode is for families looking for answers, caregivers trying to better understand the process, and anyone navigating rare epilepsy and genetic diagnosis. In this episode, we cover: What genetic testing is Why genetic testing is ordered in epilepsy Genome sequencing vs. exome sequencing vs. panels Reanalysis of older genetic results What a VUS result means Whether parents and siblings should be tested When genetic testing may be helpful Hope for the future of rare epilepsy diagnosis and care Listen, follow, and share to help more families find support, information, and connection: https://www.kcna2epilepsy.org/

  8. May 28

    How Genomics Can Inform Medication Decisions in Rare Epilepsies with Drs. Gray & Musarra - Part 2

    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 medications too quickly or too slowly, how side effects and adverse drug reactions may happen, and how genomic insights may help guide conversations with doctors. Dr. Gray also explains how genomics can offer insight into sleep, histamine responses, nutrition, and other factors that may affect children and adults living with rare epilepsy and neurological conditions. If you are a parent, caregiver, clinician, or someone living with a rare epilepsy, this episode offers practical and accessible information about using genomics to better understand the whole person, not just the diagnosis. Learn more: Toolbox Genomics: https://www.toolboxgenomics.com/ KCNA2 Epilepsy Foundation: https://www.kcna2epilepsy.org/

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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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