A Mother’s Journey Raising a Son with Autism and Epilepsy with Colleen Baker and Dr. Nancy Musarra

A Mother’s Journey Raising a Son with Autism and Epilepsy with Colleen Baker and Dr. Nancy Musarra

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/ [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 [https://kcna2epilepsy.org] #KCNA2 #RareEpilepsy #EpilepsyAwareness #AutismAwareness #AutismAndEpilepsy #SpecialNeedsParenting #CaregiverSupport #DisabilityInclusion #InclusiveEducation #SpecialEducation #IEP #504Plan #TonicClonicSeizure #VagusNerveStimulation #VNS #CaregiverSelfCare #RareDisease #Neurodiversity #ArtfullyJoe #KCNA2Podcast

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