The KCNA2 & Rare Epilepsy’s Podcast

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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

    When Doctors Have Few Answers... Abeer Alshroof's KCNA2 Journey To Help Her Son

    What happens when your child receives a diagnosis so rare that even the doctors have few answers? For one mother in Jordan, that was just the beginning of a journey filled with uncertainty, determination, challenges, and hope. In this heartfelt episode of The KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Musarra welcomes Abeer Alshroof, mom to six-year-old Abdullah, who lives with KCNA2-related epilepsy. From noticing unusual movements before Abdullah was even born to navigating seizures, developmental challenges, and a diagnosis with little available information, Abeer shares what it means to advocate for your child when the answers aren't easy to find. She also opens up about Abdullah's feeding and communication challenges, their family's experiences navigating medical care, the joy of watching him develop friendships and grow closer to his little brother, and the life-changing moment they discovered a worldwide community of parents who truly understood their journey. 💜 This episode is about more than epilepsy. It's about trusting your instincts, advocating for your child, celebrating progress, and discovering that you are never truly alone. Whether you're a parent facing a new diagnosis, a caregiver, a medical professional, or someone who wants to better understand life with rare epilepsy, this is a conversation filled with perspective, encouragement, and hope. 🔔 Subscribe to The KCNA2 & Rare Epilepsy Podcast for more real stories, educational conversations, and connections within the rare epilepsy community. Visit our website https://www.kcna2epilepsy.org/ to learn more about our community and all the work being done to find a cure for KCNA2 today.

  2. Oct 22

    Understanding SUDEP: What Every Family Living With Epilepsy Deserves to Know with Dr. Nancy Musarra

    What if one of the most serious risks of epilepsy was something you had never been warned about... even if you worked in medicine? Dr. Naum Shaparin and Joanne Tzanos lost their 10-year-old son, Mark, just 12 days after his first seizure. Despite their medical backgrounds, neither had been warned about SUDEP (Sudden Unexpected Death in Epilepsy), a devastating reality that would forever change their family. In this deeply personal episode of The KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Musarra speaks with Mark's parents about their heartbreaking loss, the gaps in epilepsy education, and why they believe every family deserves to understand the risks associated with seizures. Mark was a joyful, energetic boy who brought people together and left a lasting impression on everyone he met. After his first seizure, his family was reassured that he had a common childhood epilepsy condition with a favorable prognosis. Just 12 days later, their lives changed forever. Determined to turn their grief into meaningful action, Dr. Shaparin and Joanne founded The Mark Shaparin Foundation in 2024 to celebrate their son's life. Their goal is to share Mark's legacy through awareness, education, and action to prevent Sudden Unexpected Death in Epilepsy (SUDEP). Through their advocacy, they hope to ensure that families and healthcare professionals have the knowledge and resources to ask important questions, understand potential risks, and make informed decisions about epilepsy care. **In this episode, we discuss:** - What SUDEP is and why every family affected by epilepsy deserves to know about it - Mark's story and the 12 days between his first seizure and his death - Why conversations about epilepsy risks are so important - Seizure monitoring, nighttime safety, and emergency preparedness - Questions families can ask their neurologists about SUDEP risk - The lasting impact of losing a child on an entire family - How Mark's parents are working to improve epilepsy education and awareness This conversation is difficult, but it is also filled with purpose, love, and a powerful message: Families deserve information, honest conversations, and the opportunity to make informed decisions about their loved ones' care. Whether you are a parent, caregiver, person living with epilepsy, healthcare professional, or member of the rare disease community, we hope this episode encourages meaningful conversations that can help protect lives. Learn more about Mark's legacy and his family's SUDEP awareness efforts: https://www.markshaparinfoundation.org/ If this conversation resonates with you, please share it with another family, caregiver, or healthcare professional. Awareness begins with conversations, and every conversation matters. Follow us online at https://www.kcna2epilepsy.org/ Subscribe to this channel for more stories, education, advocacy, and hope from the rare epilepsy community. Disclaimer: This episode discusses the death of a child, SUDEP, grief, and the mental health impact of losing a loved one. This podcast is for educational and informational purposes only and is not a substitute for individualized medical advice. Please discuss seizure safety, SUDEP risk, and emergency planning with your healthcare team.

  3. Oct 15

    Nighttime Wandering & Seizures: Safer Sleep at Home & On the Go |Jamie Overman & Dr. Nancy Musarra

    For families caring for a child or loved one with epilepsy, autism, or complex medical needs, nighttime can bring a whole new set of worries. What happens if they wander out of bed? What if they experience a seizure, fall, or get into something dangerous while everyone is asleep? In this episode of The KCNA2 & Rare Epilepsy Podcast, host Dr. Nancy Musarra welcomes Jamie Overman from Abram's Nation, the company behind The Safety Sleeper, to discuss nighttime safety, wandering (also called elopement), sleep challenges, and the importance of peace of mind for caregivers. Jamie shares the inspiring story of how one mother's determination to keep her son safe led to the creation of The Safety Sleeper, an enclosed safety bed designed for individuals with a variety of medical and developmental needs. Together, they explore how safety beds work, who may benefit, common concerns about enclosed beds, travel options, and ways families can explore insurance coverage and financial assistance. They also discuss something every caregiver understands: when your loved one is safe, the entire family has a better chance to rest. Whether you're raising a child with KCNA2-related epilepsy, supporting someone with autism, caring for an individual with developmental disabilities, or navigating nighttime safety concerns, this conversation offers practical information, encouragement, and resources. 💜 Helpful Resources & Websites: KCNA2 Epilepsy Foundation: Learn more about KCNA2-related epilepsy, family support, research, and community resources. https://www.kcna2epilepsy.org/ The Safety Sleeper: Explore enclosed safety beds, features, and options for individuals with special needs. https://safetysleeper.com/ Abram's Nation: Learn more about the company behind The Safety Sleeper and its mission to help families create safer sleeping environments. https://www.abramsnation.com/ At The KCNA2 & Rare Epilepsy Podcast, we believe that sharing experiences, providing education, and connecting families with helpful resources can make a meaningful difference. If nighttime safety or sleep challenges are part of your family's journey, we'd love to hear from you in the comments. Subscribe to The KCNA2 & Rare Epilepsy Podcast for more conversations about rare epilepsy, research, treatments, caregiving, family experiences, and hope. This episode is intended for educational purposes and does not replace individualized medical advice. Families considering an enclosed safety bed should work with qualified healthcare professionals to assess safety, accessibility, and individual needs.

  4. Oct 8

    A Diagnosis They Share: A Mother & Daughter’s KCNA2 Journey with Dr. Nancy Musarra & Sarah Tompkins

    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 happened when she was just 8 months old. As she grew up, she experienced tonic-clonic seizures, seizure triggers, special education, significant challenges with reading and writing, and anxiety around social situations and public speaking. At the same time, she discovered remarkable strengths in math and numbers. Years later, after her daughter Arya began having seizures as a newborn, genetic testing changed the way Sarah understood both her daughter’s health and her own childhood. Sarah talks openly about what it was like to learn that she also tested positive for KCNA2, the guilt she initially carried after learning the condition could be hereditary, and how her perspective changed over time. Her message to other families is simple: trust your gut, keep asking questions, and find people who understand the journey. This conversation also explores the importance of being heard by medical professionals, monitoring medication levels, connecting with other rare epilepsy families, and recognizing that every person with KCNA2 may have a very different experience. Support the 2026 KCNA2 Fun Run 5K in Alberta, Canada: https://secure.qgiv.com/for/2026kcna2funrun5k-albertacanada/ Learn more about KCNA2, rare epilepsy, family resources, and support: https://www.kcna2epilepsy.org/

  5. Oct 1

    Epilepsy & Life Transitions - Setting Your Adult Kids Up For Success with Janice Hrabak

    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 child with rare epilepsy. Janice shares practical lessons from both her experience as an educator and her life as a parent. The conversation covers IEPs, school accommodations, seizure safety, field trips, friendships, bullying, medication changes, the transition from pediatric to adult medical care, preparing for life after high school, adult disability services, and guardianship. Janice also shares how preparation helped her daughter, Alex, adjust to new classrooms and schools, understand why she needed seizure medication, and take part in activities that mattered to her. One of the most memorable moments comes from Alex’s high school years. She wanted to be a cheerleader. Although she could not participate in every part of the routine, her classmates found a way to include her. She learned two cheers, wore the uniform, sat with the team, and became part of something she loved. For parents and caregivers of children with KCNA2, rare epilepsy, developmental disabilities, or other complex needs, this episode offers practical ideas for planning ahead while continuing to make room for friendship, participation, belonging, and joy. Learn more about KCNA2, rare epilepsy, family resources, and support: https://www.kcna2epilepsy.org/

  6. Sep 17

    From Seizures to Running a Marathon: Living With Juvenile Myoclonic Epilepsy (JME) | KCNA2 Podcast

    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 with the Epilepsy Foundation’s Research Ambassador Program. Chevy was just 15 when he experienced two seizures in one day, including a tonic-clonic seizure in the middle of his high school geometry class. He shares what it was like to receive an epilepsy diagnosis as a teenager, navigate medication trials and side effects, and cope with the uncertainty of how epilepsy might affect school, driving, college, relationships, and independence. Chevy also describes experiencing “jamais vu” as an aura, what having and recovering from a seizure feels like for him, and the impact epilepsy can have even when someone isn’t actively having a seizure. After trying multiple medications and continuing to experience drug-resistant epilepsy, Chevy eventually underwent vagus nerve stimulation (VNS) surgery. He discusses how he uses his VNS magnet when he recognizes an aura and the difference the treatment has made in his life. About a year after receiving his VNS, Chevy accomplished something remarkable: he ran a marathon. The conversation also explores other approaches that may be discussed in epilepsy care, including the ketogenic diet and neuromodulation devices such as VNS, DBS, and RNS. Beyond treatment, Chevy talks about something equally important: finding people who understand. After feeling increasingly isolated following his epilepsy diagnosis, he found community through the Epilepsy Foundation and eventually became involved in epilepsy advocacy and the Research Ambassador Program, where people with lived experience help advance epilepsy research and awareness. LEARN MORE ABOUT THE RESEARCH AMBASSADOR PROGRAM: https://www.epilepsy.com/research-funding/research-ambassador-program Whether you’re living with Juvenile Myoclonic Epilepsy, parenting a teenager with epilepsy, supporting someone with seizures, or working within the rare epilepsy community, Chevy’s story is a reminder of the importance of asking questions, learning about available options, finding community, and becoming an active participant in your own care. Please remember that epilepsy treatment is highly individualized. Treatments discussed in this episode may not be appropriate for everyone. Decisions about medications, dietary therapies, implanted devices, or other interventions should be made with a qualified medical professional who understands the individual’s medical history. If this conversation helps you, please subscribe, leave a comment, and share this episode to help more people learn about Juvenile Myoclonic Epilepsy and connect with the epilepsy community. To learn more about the KCNA2 Epilepsy Community, visit our website https://www.kcna2epilepsy.org/

  7. Sep 10

    Could a Patient Registry Bring KCNA2 Treatments Closer? Insights from Dr. Jan Henji Driedger

    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 purpose of the KCNA2 patient registry and why registries are so important for rare and ultra-rare diseases. Dr. Driedger explains how structured, long-term data can help researchers better understand the natural history of KCNA2, identify meaningful outcomes for families, improve clinical care, support research collaborations, and help prepare the community for future clinical trials. They also discuss how registry data is protected, what “de-identified data” means, how researchers may apply for access to data, and why the experiences and observations of families are so valuable to science. For rare conditions, every participant contributes something meaningful. As Dr. Driedger explains, families often hold information that clinicians cannot see during a short office visit—and sharing that knowledge through a registry may help improve care and research for both today’s families and future generations. If you or your loved one has KCNA2, join our registry here: https://www.kcna2epilepsy.org/kcna2-international-registry-natural-history-study/ Visit our website to learn more about KCNA2 Epilepsy: https://www.kcna2epilepsy.org/

  8. Sep 3

    From Panic to Purpose: How One Mom Became a Rare Disease Advocate with Karen Morici

    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 something was different with Dominic as an infant, to receiving a devastating rare disease diagnosis, Googling it alone in a hospital room, and experiencing her first panic attack. She also talks openly about learning to live one day at a time, managing complex medical needs including tube feeding and hypoglycemia, building a trusted care team, and finding strength through the CDG community. Over time, Karen transformed her experience as a parent into advocacy, joining CDG Care and helping other families navigate the same uncertainty she once faced. This conversation is about more than one diagnosis. It’s about fear, resilience, community, caregiving, advocacy, and learning how to focus on what matters today when the future feels impossible to predict. Learn more about PMM2 CDG awareness and the CDG care community at https://cdgcare.org/ Learn more about KCNA2 Epilepsy on our website 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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