The Roadmap to Rare

Episode 10: Advocacy in Action ft. Claire Whitehill

In Episode 10 of Roadmap to Rare, host Eric Finn is joined by Claire Whitehill, an OCNDS parent and advocate from the UK. Claire discusses her family’s diagnostic odyssey before her youngest daughter, Kirsty, was diagnosed with OCNDS through the UK’s 100,000 Genomes Project. She compares rare disease care under the UK’s National Health Service with care in the United States, and describes the advocacy it took to secure school support for Kirsty. Claire also talks about finding community through the CSNK2A1 Foundation, her work as a Parent Advisory Board member and Regional Ambassador, her involvement in national genomics research efforts, and her advice for families receiving an OCNDS diagnosis. 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: 100,00 Genomes Project: https://www.genomicsengland.co.uk/initiatives/100000-genomes-project Simons Searchlight: https://www.csnk2a1foundation.org/simons-searchlight OCNDS Awareness Day: https://www.csnk2a1foundation.org/ocnds-awareness

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Episode 9: Tell Her It Can’t Be Done, Then Watch What Happens ft. Nasha Fitter

In Episode 9 of Roadmap to Rare, host Eric Finn is joined by Nasha Fitter, a rare disease parent to her daughter Amara, who has FOXG1 syndrome. Nasha is also co-founder of the FOXG1 Research Foundation and co-founder and Chief Business Officer of Citizen Health. She shares how Amara’s prognosis turned into nine years of building: first a foundation and then a platform that turns families’ medical records into research-ready data. Nasha explains how Ari, Citizen Health’s AI teammate, helps caregivers with everyday tasks. She also discusses the recent milestone of the first child receiving FRF-001, an investigational gene replacement therapy for FOXG1 syndrome, in a clinical trial, and how medical records data gathered through Citizen Health helped shape the trial’s design. 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: Citizen Health: https://www.csnk2a1foundation.org/citizen-health and https://www.citizen.health/ Ari (CSNK2A1 Foundation link): https://www.citizen.health/join/csnk2a1 More about Nasha: https://www.nashafitter.com/ FOXG1 Research Foundation: https://www.foxg1research.org/

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Episode 8: Five Practical Ways for Families to Prepare for Clinical Trials ft. Dr. Gabrielle Rushing

In Episode 8 of Roadmap to Rare, host Eric Finn is joined by Dr. Gabrielle Rushing, Chief Scientific Officer of the CSNK2A1 Foundation, to talk about one of the biggest questions that rare disease families may ask: will there ever be a treatment for my child? Dr. Rushing explains what “clinical trial readiness” means and explains drug repurposing, gene therapy, and how clinical trials work. She also describes the research the CSNK2A1 Foundation is supporting in areas like sleep, speech, language, and motor symptoms. Together, Eric and Dr. Rushing discuss five practical steps that families can take now to help lay the groundwork for future OCNDS research and emphasize that small actions across the community add up. 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: CSNK2A1 Foundation informational videos: https://www.csnk2a1foundation.org/informational-videos How to read your genetics lab report video: https://www.youtube.com/watch?v=RR1FwdI-WZQ Family research opportunities: https://www.csnk2a1foundation.org/family-research-opportunities Simons Searchlight: https://www.csnk2a1foundation.org/natural-history-study Citizen Health: https://www.csnk2a1foundation.org/citizen-health OCNDS research explained: https://www.csnk2a1foundation.org/research-explained Drug repurposing (Dr. Clement Chow); episode with Dr. Chow coming soon!: https://www.youtube.com/watch?v=fAUSglQ_XBc

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Episode 7: Reflecting on Rare Disease Week ft. Alyssa Ronco & Jessica Wilfong

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. 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: 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

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Episode 6: Going the Distance for OCNDS Awareness ft. Kevin Pilgrim

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 Follow us on Facebook: CSNK2A1 Foundation Follow us on LinkedIn: CSNK2A1 Foundation 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

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Episode 5: The Road to the CSNK2A1 Foundation ft. Jennifer Sills

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 Follow us on Facebook: CSNK2A1 Foundation 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

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Episode 4: Chatting with a Genetic Counselor ft. Grace Branger, MGC

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 Follow us on Facebook: CSNK2A1 Foundation 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

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Episode 3: Inside OCNDS Research ft. Drs. Gabrielle Rushing and Elena Bagatelas

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/

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Episode 2: The Day Everything Changed ft. Amber Reynolds

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 Follow us on Facebook: CSNK2A1 Foundation Follow us on LinkedIn: CSNK2A1 Foundation

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Episode 1: Meet Your Host, Eric

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

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Trailer: Roadmap to Rare

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. Subscribe so you can stay updated for new episodes! 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 podcast@csnk2a1foundation.org. Or on our webpage https://www.csnk2a1foundation.org/roadmap-to-rare-podcast! Follow us on Instagram: @csnk2a1_foundation Follow us on Facebook: CSNK2A1 Foundation Follow us on LinkedIn: CSNK2A1 Foundation