The KCNA2 & Rare Epilepsy’s Podcast

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/

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

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/
#KCNA2 #RareEpilepsy #EpilepsyAwareness #RareDisease #GeneticEpilepsy #KCNA2Community #CaregiverSupport #SpecialNeedsParenting #RareDiseaseAwareness #HopeForACure

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/ 

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/

Epilepsy & Mental Health Are More Connected Than People Realize with Monica Lopez Morales

In this episode of the KCNA2 & Rare Epilepsy Podcast, Monica Lopez Morales returns for a powerful and deeply honest conversation about the connection between epilepsy and mental health. Drawing from more than four decades of lived experience, Monica shares how epilepsy can affect far more than seizures alone, touching anxiety, depression, PTSD, stigma, isolation, and the daily emotional weight that many people carry silently.
Together, Monica and Nancy talk about what seizures are in simple terms, how epilepsy and mental health are deeply intertwined, and why emotional wellness should be part of epilepsy care from the very beginning. Monica also speaks candidly about support groups, self-advocacy, safe disclosure, movement, nutrition, and recognizing when help is needed.
This episode is especially valuable for adults living with epilepsy, parents raising children with epilepsy, family members, caregivers, and clinicians. It is also an important reminder that epilepsy affects the whole family, and that mental health symptoms may impact parents, siblings, and caregivers too. Monica encourages families to create safe spaces for children and teens to talk openly, and she reminds listeners that no one should have to carry this alone.
And remember...This episode is for educational and informational purposes only and is not medical advice. It also includes discussion of depression, suicidal ideation, and mental health challenges related to epilepsy. Please speak with your doctor or epilepsy care team about diagnosis, treatment, medications, seizure safety, and mental health support.
About KCNA2KCNA2-related epilepsy is a rare neurological condition that affects how the brain sends electrical signals, often leading to seizures, movement challenges, and developmental differences. Every experience is unique, but community and shared stories play a critical role in support and understanding. You can read more on our website https://www.kcna2epilepsy.org/

Rare Epilepsy and Genomic Testing Explained with Dr. Erika Gray and Dr. Nancy Musarra

In this episode of the KCNA2 & Rare Epilepsy Podcast, Nancy sits down with Dr. Erika Gray, pharmacist and Chief Medical Officer of Toolbox Genomics, to break down the difference between genetics and genomics in a way families can actually understand. Together, they talk about how gene variants like KCNA2 can affect potassium channels, why gain-of-function and loss-of-function matter, how genomic testing may help guide treatment decisions, and what families should know about privacy, insurance, and next steps in testing. This is Part 1 of a two-part conversation focused on making a complex topic more clear, practical, and hopeful for families navigating rare epilepsy.
Whether you are a parent, caregiver, clinician, or researcher, this episode offers an accessible introduction to how genomics may support more personalized care for children with rare epilepsies and other neurological conditions.
Learn more:Toolbox Genomics: https://www.toolboxgenomics.com/
KCNA2 Epilepsy Foundation: https://www.kcna2epilepsy.org/

Epilepsy Is More Than Seizures with Monica Lopez Morales and Dr. Nancy Musarra

In this episode of the KCNA2 & Rare Epilepsy Podcast, we welcome back epilepsy advocate Monica Lopez Morales for an honest and empowering conversation about what it really means to live with epilepsy. Monica shares her lived experience, the stigma and isolation many people face, and why epilepsy education matters so much for families, caregivers, clinicians, and the wider community.
Together, we talk about common myths around seizures, the different types of seizures people may not recognize, what seizure first aid actually looks like, and why awareness can save lives. Monica also opens up about SUDEP, the anxiety that can come with epilepsy, and the importance of community support for people who feel alone or misunderstood.
This episode is a reminder that epilepsy is about so much more than seizures. It is about safety, connection, mental health, dignity, and making sure no one has to navigate this journey alone.
And remember...This episode shares personal experience and general education about epilepsy. It is not a substitute for medical advice. Please speak with your doctor or epilepsy care team about diagnosis, treatment, seizure first aid, and emergency planning.
About KCNA2
KCNA2-related epilepsy is a rare neurological condition that affects how the brain sends electrical signals, often leading to seizures, movement challenges, and developmental differences. Every experience is unique, but community and shared stories play a critical role in support and understanding. You can read more on our website https://www.kcna2epilepsy.org/

Understanding KCNA2 Epilepsy with Researcher Dr. Ulrike (Uli') Hedrich-Klimosch & Dr. Nancy Musarra

What does a KCNA2 diagnosis actually mean, and how do researchers study rare epilepsies?
In this episode of the KCNA2 & Rare Epilepsy Podcast, Nancy speaks with Dr. Ulrike (Uli') Hedrich-Klimosch, a researcher in Germany focused on epilepsy, ion channels, neuronal networks, and KCNA2-related disease. Together, they break down complex ideas in a way families can understand, including what a channelopathy is, how gain-of-function and loss-of-function variants differ, why treatments like 4-aminopyridine (4-AP) may help some patients, and how research moves from the lab to the clinic.
This conversation is especially helpful for:➜ parents and caregivers navigating a new diagnosis➜ families trying to better understand KCNA2➜ clinicians and researchers interested in patient-centered explanations➜ anyone wanting clearer language around rare epilepsy research
The episode also touches on the real-life impact of rare epilepsy on families, the promise and limits of current treatments, and why rare disease research matters so deeply.
Learn more about KCNA2 epilepsy, definitions, and family resources at the KCNA2 website:https://www.kcna2epilepsy.org/
You can also explore the KCNA2 glossary on the website for simple explanations of terms used in this episode.