Episode 10: Advocacy in Action ft. Claire Whitehill

Overview


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.


Key takeaways:


  • Claire’s family’s journey from Kirsty’s early health challenges to an OCNDS diagnosis
  • How the 100,000 Genomes Project led to answers after years of uncertainty
  • How rare disease care in the UK compares with the US
  • What it took to secure an education, health and care plan (EHCP, the UK’s equivalent of an IEP) and find the right school
  • Why standards of care and early connection to other families matter after diagnosis
  • How parent advisory boards, regional ambassador positions, and research participant panels give families a voice in research
  • Claire’s advice for new families: celebrate the inch-stones, be kind to yourself, and make time for siblings


Episode highlights:


1:01: A premature birth, early hospital stays, and the first signs of developmental delay

2:39: The diagnostic odyssey

4:13: Getting a diagnosis through the 100,000 Genomes Project

5:09: How rare disease care in the UK compares with the US

9:41: Relief and heartbreak after receiving an OCNDS diagnosis

10:47: Finding the CSNK2A1 Foundation and other OCNDS families

14:17: Advocating for an EHCP

21:29: The moments Claire realized she had to be Kirsty’s biggest advocate

26:07: How the OCNDS community changed Claire’s family’s journey

29:43: Joining the Genomics England participant panel

32:13: Lighting up UK landmarks for OCNDS Awareness Day (April 5)

33:41: Advice for families receiving a new diagnosis


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Episode Transcript

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