Jan. 9, 2026

Episode 34: MEF2C Foundation Australia with Sean Rafferty and Claire Bothwell

Episode 34: MEF2C Foundation Australia with Sean Rafferty and Claire Bothwell

In this episode, we sit down with Sean Rafferty and Claire Bothwell to talk about the creation of the Australian foundation dedicated to supporting families affected by MEF2C haploinsufficiency syndrome (MCHS). Sean and Claire share the deeply personal motivations behind starting the foundation and walk us through the realities of turning an idea into a functioning charity.

The conversation explores the challenges of building a foundation from the ground up, from navigating logistics and sustainability to finding balance as parents and advocates. Sean and Claire emphasize the power of community building, the importance of meaningful research partnerships, and how connection can bring hope to families who often feel isolated in their diagnosis.

They also discuss innovative, community-driven fundraising efforts, including running events and virtual fundraisers, and how breaking big goals into manageable steps has helped them grow their impact. Throughout the episode, Sean and Claire highlight the strength that comes from shared experiences and the vital role families play in shaping the future of MCHS support and research.

Subjects covered include:

  • Why and how the Australian foundation for MCHS was created

  • The importance of community building and peer support

  • Creative and inclusive fundraising strategies

  • Running events as a powerful fundraising and awareness tool

  • Expanding reach through virtual fundraising opportunities

  • The teamwork and commitment required to start a foundation

  • How connection and shared experiences foster hope for families

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