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MEF2Cast

MEF2Cast

Haley and Eli, parents of a child with MEF2C Haploinsufficiency Syndrome (MCHS), speak to both other parents and scientific experts to inform, support, and build community around MCHS

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Recent Episodes

Jan. 30, 2026

Core Conversations- Jennifer and Keith Aguirre

Core Conversations are revisited episodes from our archives that still stick with us and feel especially relevant, offering meaningful insight for families in the MEF2C community. In this Core Conversations episode of the MEF...
Jan. 23, 2026

Episode 36: Navigating MCHS with Helle and Andreas

In this episode of MEF2Cast , we sit down with Helle and Andreas to share their family’s journey navigating life with MEF2C haploinsufficiency syndrome (MCHS). Helle reflects on the early signs that something was different, t...
Jan. 16, 2026

Episode 35: Understanding Leucovorin with Dr. Elizabeth Laughlin, PharmD

In this episode, we sit down with Dr. Elizabeth Laughlin, PharmD, to explore the use of Leucovorin, a prescription form of folate, and its emerging role in supporting children with certain neurological and folate-related immu...
Jan. 9, 2026

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 Clair...
Jan. 2, 2026

Episode 33: Balancing Care and Family Life with Sean Rafferty and Claire Bothwell

In this episode of the MEF2Cast , we sit down with Sean and Claire to talk openly about their journey raising their daughter, Thea, who has MEF2C haploinsufficiency syndrome (MCHS). Together, they share what it looks like to ...
Dec. 19, 2025

Episode 32: Growing Up With Oscar

In this episode, we sit down with siblings Maddie and Max Kelly as they reflect on what it was like growing up alongside their brother, Oscar, who has special needs. Through honest stories and heartfelt insight, they share ea...