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