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HBO and The Ringer's Bill Simmons hosts the most downloaded sports podcast of all time, with a rotating crew of celebrities, athletes, and media staples, as well as mainstays like Cousin Sal, Joe House, and a slew of other friends and family members who always happen to be suspiciously available.
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In this episode of Rare Connection, I talk with Jillian Kavanagh, a nurse practitioner and parent to Ellie, who was diagnosed with Okur-Chung Neurodevelopmental Syndrome (OCNDS) at age 4. With only about 300 known cases worldwide, OCNDS is an ultra-rare genetic condition caused by variants in the CSNK2A1 gene.
Jillian shares the challenges of Ellie’s early epilepsy diagnosis, the long road to genetic testing, and how life changed after finally receiving answers. As a founding member of the CSNK2A1 Foundation, she is working to bridge the gap between the medical community and the families affected by OCNDS.
💡 What you’ll learn in this episode:
- What OCNDS is and how it’s diagnosed
- The struggles parents face navigating rare disease care
- Why genetic testing is critical — and often out of reach for many families
- How Jillian uses her professional and personal experience to advocate for change
🔗 Learn more about OCNDS: CSNK2A1 Foundation https://www.csnk2a1foundation.org/
👉 Don’t forget to subscribe to my channel Rare Chef for more episodes, cooking videos, and rare disease advocacy content. Comment below to share your thoughts, or use the “Send Me a Text” link in the audio show notes to connect directly.
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