MEF2Cast

In this Core Conversation, we revisit our conversation with Shawnacy and Cody Bruce, parents navigating the beautifully complex world of raising two daughters—one of whom, Boston, has developmental delays and CVI. With honesty, humor, and deep love, they share what it has looked like to move through early questions, sleepless stretches, and the emotional weight of receiving a diagnosis, all while discovering the joy tucked into every small win along the way. Cody talks openly about becoming a pr

In this episode of MEF2Cast, we sit down with Jordan LeVan to explore his powerful journey living with childhood apraxia of speech (CAS). Jordan shares what it was like growing up with a motor planning disorder that made verbal communication incredibly challenging, and how early struggles in diagnosis and therapy shaped his path forward. Through an honest and insightful conversation, Jordan breaks down the realities of speech therapy for children with CAS, emphasizing the importance of understan

In this episode of MEF2Cast , we sit down with Audra and Phil Kimmett to talk about their journey raising their son William, who was diagnosed with MEF2C haploinsufficiency syndrome (MCHS). Through a candid and heartfelt conversation, Audra and Phil share the early signs that something in William’s development was different, the long road to diagnosis, and how they learned to navigate the complex world of therapies, specialists, and advocacy. The Kimmetts reflect on the importance of early inter

In this episode of the MEF2Cast, we sit down with Julia Irwin , mom to Elsie, to share their family’s journey with MEF2C haploinsufficiency syndrome. Julia reflects on Elsie’s early birth and low birth weight, the first signs that something more might be going on, and the long, often complicated road to diagnosis within the Canadian healthcare system. Our conversation explores what it means to finally have a name for what your child is experiencing—and the mix of relief, grief, and clarity that

In this episode of our Core Conversations series, we explore the critical role of MEF2C, a transcription factor that shapes early brain development and influences a wide range of neurological functions. This conversation unpacks how MEF2C regulates gene expression, orchestrates neuronal pruning, and affects both excitatory and inhibitory neurons. We also dive into its connections with autism spectrum disorders, sleep regulation, motor coordination, and sensory processing. The discussion highligh

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 MEF2Cast, we sit down with Jennifer and Keith Aguirre, parents to their daughter Maddie, who has MEF2C haploinsufficiency syndrome. The Aguirres share their family’s journey — from the long road to diagnosis, to relocating to Colorado in search of better resources, to the every