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...

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...

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...

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 fin...

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 spect...

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 — fr...

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, the path to diagnosis, and how becoming an advocate for her son reshaped her understanding of parenting, progress, and possibility. The conversation explores the realities of d...

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 immune conditions. Dr. Laughlin breaks down how Leucovorin works in the body, including its ability to act as a “master key” that helps folate cross critical barriers in the brain...

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 explor...

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 balance intensive caregiving with family life, marriage, and sibling relationships, while navigating the long road of therapies, medical advocacy, and everyday decision-making...

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 early memories of welcoming Oscar into their family, the gradual realizations that his needs were different, and the ways those differences shaped their childhood. The conversat...

In this episode, we sit down as hosts—and as parents—to reflect on the past nine months of life, learning, and growth with our son, Leo. We share a deeply personal update on his developmental journey, including the incredible moment he began walking just before his third birthday, the steady progress he’s made with signs and gestures, and how school and therapies have shaped his communication and...

In this episode, we sit down with Caroline Donnelly , a devoted mother who shares the deeply personal journey of receiving a life-changing diagnosis for her daughter, Jess. Caroline walks us through the moment she opened the letter explaining Jess’s condition—a moment filled with fear, confusion, and an unexpected sense of relief. The conversation explores the emotional complexity of learning some...

In this episode, we sit down with Susan Simmons to revisit her family’s powerful journey with her son, Andrew, who has autism and MEF2C haploinsufficiency syndrome. Susan reflects on Andrew’s early development, the long road to multiple diagnoses, and the mix of relief and grief that came with finally learning he had MEF2C at age 16. Susan shares how discovering Andrew’s ability to communicate—aft...

In this episode, we sit down 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...

In this episode of MEF2Cast , we sit down with Dr. Laurence Hurst, Professor of Evolutionary Genetics at the University of Bath, to explore how imperfection drives evolution. Dr. Hurst breaks down the fundamentals of Darwinian natural selection, the surprising role of mutations, and what these forces reveal about the human genome. He explains why evolution is not a process of perfect design—but on...

In today’s episode, we are joined by Dr. Tim O’Sullivan, a immunologist at UCLA, as well as his graduate student Cassidy Lee. Dr. O’Sullivan and Cassidy join us to discuss the emerging research on MEF2C’s role in immune function. Subjects covered include: MEF2C’s role in natural killer (NK) cell function How MEF2C may affect lipid metabolism and, therefore, immune function Oleic acid as a potentia...

In this episode, we sit down with Moriah and Adam Zwick to discuss their journey raising Noah — a bright and determined little boy with a rare genetic condition. Mariah and Adam open up about the earliest signs that something was different, the emotional challenges of pursuing a diagnosis, and the complex world of therapies, specialists, and support systems that followed. The conversation explores...

In this episode, we dive into the promising world of gene therapy with Dr. Steven Gray from the University of Texas Southwestern and Caroline Claflin, co-founder of the MEF2C Family Foundation. Dr. Gray shares his two-decade journey in gene therapy—beginning at the University of North Carolina—where his focus on virus-based treatments has led to pioneering work in neurodegenerative and neurodevelo...

In this episode, we sit down with Erica Anderson , a Board-Certified Behavior Analyst (BCBA), to explore the evolution of Applied Behavior Analysis (ABA) and how modern practices are shifting toward inclusivity, empathy, and collaboration . Erica shares her personal journey into the field, beginning in high school with a passion for supporting autistic individuals, and reflects on how ABA has tran...

In today’s Core Conversations episode, we are joined by Sam Fox , Spelling to Communicate (S2C) practitioner and owner of Beyond Speech Therapy Center in Munroe Falls, OH. Sam joins us to discuss spelling as a means of communication for non-speaking or unreliably speaking individuals, and the S2C system. Some highlights include: The philosophy and controversy around spelling Who could benefit from...

In this first installment 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 a...

Episode 24: Autism and Movement with Sheena Leedham In this episode, we sit down with Sheena Leedham, an educator and trainer whose work highlights the power of movement in the autism community. Sheena shares her unexpected journey into this field, emphasizing how physical milestones and skill acquisition play a crucial role in child development. The conversation explores how exercise and structur...

In this episode of the MEF2Cast, Blake Kelly shares her personal journey of raising her son Oscar, who has MCHS. She discusses the challenges of navigating healthcare in Amsterdam compared to the U.S., the emotional rollercoaster of receiving a diagnosis, and the importance of building a supportive community. Blake reflects on the various therapies and interventions they have tried, the balance of...

In this episode, we sit down with Dr. Zachary Grinspan, a pediatric neurologist whose work focuses on MEF2C haploinsufficiency syndrome (MCHS). Dr. Grinspan leads the Volāre study , a groundbreaking effort to map the natural history of MCHS and build the foundation for future therapies. He explains the role of the MEF2C gene in brain development, why seizures are so common in this community, and h...