In Episode 7 of Roadmap to Rare, host Eric Finn sits down with two fellow OCNDS parents, Alyssa Ronco and Jessica Wilfong, to talk about their experience at Rare Disease Week in Washington, DC. This three-day event, run by the EveryLife Foundation for Rare Diseases (now known as the RARE Foundation), brings families from across the rare disease community together to share their stories and to meet with lawmakers about policies affecting rare disease families. Alyssa and Jessica discuss their families’ roads to an OCNDS diagnosis, their experience advocating on Capitol Hill, and the impact of meeting other rare disease families in person. They also reflect on the power of showing up in numbers and how advocacy efforts—big or small—can create change. 

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Your ideas help shape the conversations that matter most to the rare disease community. Feel free to submit questions and topics of interest to us: https://www.csnk2a1foundation.org/roadmap-to-rare-podcast

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Visit our website: https://www.csnk2a1foundation.org/

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Links & Resources

Rare Disease Week information: https://www.rareadvocates.org/rare-disease-week/

RARE Foundation travel reimbursement application: https://tinyurl.com/rarefoundationstipend

CSNK2A1 Foundation advocacy one-pager: https://www.csnk2a1foundation.org/2026-advocacy-one-pager

In Episode 6 of Roadmap to Rare, host Eric Finn is joined by Kevin Pilgrim, an OCNDS parent from the UK. Kevin’s son, Hunter, was diagnosed with OCNDS in 2021. Kevin shares his family’s road to a diagnosis, the relief of finding the CSNK2A1 Foundation and its community of parents, and how he turns endurance challenges into fundraising efforts that raise awareness for OCNDS. He also reflects on what he’s learned along the way about supporting Hunter’s younger brother, celebrating small wins, and staying hopeful. 

Kevin's next fundraiser, running 5K every hour for 48 hours will be from September 11–13, 2026. 

Subscribe so you can stay updated for new episodes! New episodes every two weeks. 

Your ideas help shape the conversations that matter most to the rare disease community. Feel free to submit questions and topics of interest to us: https://www.csnk2a1foundation.org/roadmap-to-rare-podcast

Stay Connected:

Visit our website: https://www.csnk2a1foundation.org/

Follow us on Instagram: @csnk2a1_foundation

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Links & Resources

Kevin's fundraiser: https://www.justgiving.com/page/5k-everyhour-48hours?u

News articles: https://www.essexlive.news/news/essex-news/boy-with-rare-genetic-condition-7698722

https://metro.co.uk/2022/10/09/essex-boy-diagnosed-with-rare-condition-doctor-had-never-heard-of-17501506/

Reflections on cycling 500K to raise awareness for OCNDS: https://www.csnk2a1foundation.org/i-am-no-lance-armstrong-cycling-500km-non-stop-to-raise-money-and-awareness-for-ocnds

In Episode 5 of Roadmap to Rare, host Eric Finn is joined by Jennifer Sills, Founder and President of the CSNK2A1 Foundation, which supports families affected by Okur-Chung Neurodevelopmental Syndrome (OCNDS). Jennifer shares her family’s road to getting a diagnosis for her daughter and describes how a phone call with Dr. Wendy Chung led her to start the Foundation. Jennifer also discusses the importance of supporting the whole family, reaching families in many languages, and the ways that families can get involved with the CSNK2A1 Foundation.

Subscribe so you can stay updated for new episodes! New episodes every two weeks. 

Your ideas help shape the conversations that matter most to the rare disease community. Feel free to submit questions and topics of interest to us: https://www.csnk2a1foundation.org/roadmap-to-rare-podcast

Stay Connected:

Visit our website: https://www.csnk2a1foundation.org/

Follow us on Instagram: @csnk2a1_foundation

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Follow us on LinkedIn: CSNK2A1 Foundation

Links & Resources

Current OCNDS research opportunities, including Simon’s Searchlight and Citizen Health: https://www.csnk2a1foundation.org/family-research-opportunities

In Episode 4 of Roadmap to Rare, Eric Finn is joined by Grace Branger, MGC, a genetic counselor who helps families navigate genetic testing and rare disease diagnoses. Grace discusses the basis of genetic testing, explains how to make sense of a genetic report—including uncertain results—and speaks to the guilt parents may feel after a diagnosis. She also expands upon how genetic counseling supports the whole family and discusses questions that parents can ask genetic counselors.

Subscribe so you can stay updated for new episodes! New episodes every two weeks.

Your ideas help shape the conversations that matter most to the rare disease community. Feel free to submit questions and topics of interest to us: https://www.csnk2a1foundation.org/roadmap-to-rare-podcast

Stay Connected:

Visit our website: https://www.csnk2a1foundation.org/

Follow us on Instagram: @csnk2a1_foundation

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Follow us on LinkedIn: CSNK2A1 Foundation

Links and Resources:

GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK581083/

How to read your genetic report: https://www.youtube.com/watch?v=RR1FwdI-WZQ

Variant of uncertain significance (VUS) explained: https://www.csnk2a1foundation.org/understanding-the-significance-of-your-genetic-variant

In Episode 3 of Roadmap to Rare, host Eric Finn is joined by Dr. Gabrielle Rushing, Chief Scientific Officer for the CSNK2A1 Foundation, and Dr. Elena Bagatelas. Together, they unpack the science behind Okur-Chung Neurodevelopmental Syndrome (OCNDS), from explaining the functions of the CNSK2A1 gene and the CK2 protein, to talking about the foundation’s genotype (genetic code)-phenotype (physical result) research, patient registries, and current research priorities. The researchers highlight that every family’s participation helps move research forward. 

Subscribe so you can stay updated for new episodes! New episodes every two weeks. 

Your ideas help shape the conversations that matter most to the rare disease community. Feel free to submit questions and topics of interest to us: https://www.csnk2a1foundation.org/roadmap-to-rare-podcast

Stay Connected:

Visit our website: https://www.csnk2a1foundation.org/

Follow us on Instagram: @csnk2a1_foundation

Follow us on Facebook: CSNK2A1 Foundation

Follow us on LinkedIn: CSNK2A1 Foundation

Links & Resources:

https://www.simonssearchlight.org/research/what-we-study/csnk2a1/

https://www.csnk2a1foundation.org/simons-searchlight

https://www.csnk2a1foundation.org/citizen-health

https://www.csnk2a1foundation.org/project-find-out

https://www.csnk2a1foundation.org/new-partnership-with-probably-genetic

Bagatelas et al., 2025. OCNDS core features are conserved across variants with loop-region mutations driving greater symptom burden: https://pmc.ncbi.nlm.nih.gov/articles/PMC12267189/

In Episode 2 of Roadmap to Rare, host Eric Finn sits down with Amber Reynolds, a fellow OCNDS parent and advocate from Colorado, whose 14-year-old daughter, Harper, was one of the first 15 people in the world diagnosed with Okur-Chung Neurodevelopmental Syndrome (OCNDS). Amber shares her family’s journey from Harper’s first-week pediatric appointment to the moment they received an OCNDS diagnosis when Harper was five. Eric and Amber reflect on genetic testing, finding community, and the everyday advocacy and small victories that shape the rare disease journey.

Subscribe so you can stay updated for new episodes! New episodes every two weeks. 

Your ideas help shape the conversations that matter most to the rare disease community. Feel free to submit questions and topics of interest to us: https://www.csnk2a1foundation.org/roadmap-to-rare-podcast

Stay Connected:

Visit our website: https://www.csnk2a1foundation.org/

Follow us on Instagram: @csnk2a1_foundation

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In the debut episode of Roadmap to Rare, host Eric Finn introduces himself and the mission of the show. Roadmap to Rare aims to shed light on the reality of navigating the rare disease journey through real stories, real challenges, and research. Eric shares his personal story of how his family discovered that his son had Okur-Chung Neurodevelopmental Syndrome (OCNDS), an ultra-rare genetic condition affecting approximately 400 people worldwide. 

Subscribe so you can stay updated for new episodes! New episodes every two weeks. 

Your ideas help shape the conversations that matter most to the rare disease community. Feel free to submit questions and topics of interest to us: https://www.csnk2a1foundation.org/roadmap-to-rare-podcast

About the Host:

Eric Finn is from Gillette, Wyoming and is a father, advocate, and an Early Interventionist at the Children’s Developmental Center of Campbell County and a wrestling and football coach for the Campbell County School District. Eric’s son was diagnosed with OCNDS a month before his third birthday. 

Stay Connected:

Visit our website: https://www.csnk2a1foundation.org/

Follow us on Instagram: @csnk2a1_foundation

Follow us on Facebook: CSNK2A1 Foundation

Follow us on LinkedIn: CSNK2A1 Foundation

This is the Roadmap to Rare. Hosted by OCNDS parent Eric Finn, this podcast explores the reality of the rare-disease journey—sharing hope through real stories, real challenges, and research.

On Roadmap to Rare, Eric sits down with parents, advocates, clinicians, researchers, and leaders in the rare disease community to talk about what the path really looks like—from diagnosis to advocacy, research breakthroughs, and everything in between.

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Your ideas help shape the conversations that matter most to the rare disease community. Feel free to submit us questions and topics of interest us at [email protected]. 

Or on our webpage https://www.csnk2a1foundation.org/roadmap-to-rare-podcast!

Follow us on Instagram: @csnk2a1_foundation

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