The Roadmap to Rare

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 advo...

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...

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 a...

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 mee...

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 wh...

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 im...

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 suppo...

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...

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...

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 condit...

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...