Episode 2: The Day Everything Changed ft. Amber Reynolds
BuzzSprout: https://www.buzzsprout.com/2604852/episodes/19467368
YouTube: https://youtu.be/nTM9mwK4w5M
Overview
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.
Key takeaways:
- Amber and her family’s journey with:
- Early developmental differences and delayed milestones
- Navigating the genetic testing process
- Finding community through the CSNK2A1 Foundation and other OCNDS families
- Everyday advocacy — from the classroom to Washington D.C.
- Celebrating “inch stones” and finding joy along the journey
Episode highlights:
1:04: Amber introduces herself and her daughter, Harper, now 14
1:43: Amber's gut feeling kicks in when Harper is 6 months old
5:01: Despite genetic testing at 11 months, Harper isn't diagnosed with OCNDS until age 5
7:09: The diagnosis moment: Amber opens up about relief and self-blame
10:21: Amber recalls meeting Dr. Okur and Dr. Chung at her first OCNDS conference
19:18: Amber reflects on advocacy, from the classroom to Washington D.C.
24:37: Amber's closing message: find the joy in the little things, celebrate the inch stones, and never stop being your child's voice.
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.
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