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 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.

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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:

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:

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/

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/

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/

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 sketching buildings, maps, television logos, birds, and other subjects, and how his creativity eventually grew into Artfully Joe, his own art business.

Joe and Colleen also give a behind-the-scenes look at how they work together in the studio. From planning monthly themes to turning Joe’s artwork into note cards and ornaments. Joe discusses how epilepsy has affected some of his life choices, including his childhood interest in joining the military, while also sharing the interests, travel dreams, sports, and experiences that continue to inspire him.

This conversation is a celebration of creativity, family support, individuality, and finding meaningful ways to build a life around your strengths.

For more on Joe's art shop visit: https://artfully-joe.myshopify.com/

For more on KCNA2 visit: https://www.kcna2epilepsy.org/

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 precision-treatment approaches.

They also explain why understanding whether a KCNA2 variant is gain-of-function, loss-of-function, mixed-function, or still unidentified can be so important as new treatments are developed.

Most importantly, Nancy and Oriana share how families can play an active role in moving KCNA2 research forward by joining registries, staying connected, talking with their doctors, participating in research opportunities, raising awareness, and supporting research funding.

Whether you are living with KCNA2, caring for someone with KCNA2, working in rare-disease research, or simply want to learn more, this conversation highlights how much progress is happening and why every family matters.

🔗 Learn more about KCNA2, connect with the community, and find resources:

🔗 If you or your loved one is diagnosed with KCAN2 and want to join the registries discussed in the video, you can learn more here: https://www.kcna2epilepsy.org/kcna2-international-registry-natural-history-study/ 

🔗 You can also become a part of our family contact list here: https://www.kcna2epilepsy.org/kcna2-epilepsy-family-contact-form/

🔗 If you have any questions about KCAN2, our registries or our community, please reach out to us directly for help: https://www.kcna2epilepsy.org/contact-us/

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:

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.

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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.

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

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