The KCNA2 & Rare Epilepsy’s Podcast

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:https://www.kcna2epilepsy.org/
🔗 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: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

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
#KCNA2 #RareEpilepsy #EpilepsyAwareness #GeneticEpilepsy #RareDisease #CaregiverStories #SpecialNeedsParenting #SeizureAwareness #DisabilityInclusion #GeneticTesting #TonicClonicSeizure #MyoclonicSeizures #RareDiseaseCommunity #ParentAdvocacy #TheKCNA2Podcast

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
 

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.

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/

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