The KCNA2 & Rare Epilepsy’s Podcast

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 [https://www.youtube.com/watch?v=-KS5-eCKBHE] or https://kcna2epilepsy.podbean.com/e/gillian-prinzing-episode-1 [https://kcna2epilepsy.podbean.com/e/gillian-prinzing-episode-1] Learn more at: https://www.kcna2epilepsy.org/ [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.

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/ [https://www.threadstrategies.com/] Learn more about KCNA2 Epilepsy: https://www.kcna2epilepsy.org/ [https://www.kcna2epilepsy.org/]

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 [https://www.kcna2epilepsy.org/]

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

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/ [https://www.kcna2epilepsy.org/] #KCNA2 #RareEpilepsy #EpilepsyAwareness #RareDisease #GeneticEpilepsy #KCNA2Community #CaregiverSupport #SpecialNeedsParenting #RareDiseaseAwareness #HopeForACure