MEF2Cast

In this episode, we sit down with Kristina Johnson, a professor at Northeastern University and mother to her son Felix, who was diagnosed with MEF2C haploinsufficiency syndrome at just nine months old. Kristina shares her family’s journey — from the early signs of developmental delays that were initially dismissed, to the long and isolating road toward diagnosis, to the ways her personal and profe...

In this episode, we sit down with Jennifer and Kieth 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 ongoing process of navigating education, life skills, and community support. The conversation highlights both the chall...

In this episode, we sit down with Dr. Steve Skinner , CEO of Greenwood Genetic Center (GGC), and Jessica Cooley-Coleman , a genetic counselor at GGC, to explore the complexities of MEF2C haploinsufficiency syndrome. Together, they share their personal journeys in the field, discuss the genetic underpinnings of the condition, and explain the clinical features observed in patients. The conversation...

🎙️ In today’s episode, we’re joined by the Bouvier family as they share their heartfelt journey with their daughter, Taylor, who has Mef2C Haploinsufficiency Syndrome (MCHS). Together, we discuss the emotional and practical realities of parenting a child with special needs—from the long road to diagnosis to the power of building a strong support network. The Bouviers open up about the therapies an...

In today’s episode, we are joined by Lauren, Kacee, and Tyler, a dedicated team of therapists working with Margo, a young girl with MCHS. They join us to discuss the interdisciplinary approach in pediatric therapy and its impact on Margo's development. Subjects covered include: ​The role of early intervention in therapy ​How interdisciplinary collaboration enhances treatment outcomes ​The importan...

In today’s episode, we are joined by Camila and Jedidiah Seaman, parents to Margo. Camila and Jedidiah join us to discuss Margo’s story, the lessons learned along the way, and their hopes for the future. Subjects discussed include: Margo’s journey to diagnosis How Jedidiah and Camila are processing the diagnosis Therapeutic techniques that have been useful for Margo The importance of having a good...

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 today's episode, We are joined by Addyson Moore, mother to Lydia. Addyson shares her adoption story and how she became Lydia's mom as well as her experiences with MCHS. Subjects discussed include: Lydia's early life in foster care Her experiences with the adoption process Challenges in navigating medical care and therapies Finding organizations in the community that help support peo...

In today’s episode, we are joined by Alain Greige, a graduate student from Dr. Cowan’s lab at MUSC. Alain joins us to discuss the nuts and bolts of MCHS and the future of treatment. Some highlights include: MEF2C’s role in neurological development The relationship between autism and MCHS TSBs as treatment for MCHS and what that might look like The importance of the community’s involvement in resea...

In today’s episode of the MEF2Cast, we interviewed Jamie Lundy, Certified Genetic Counselor with Simons Searchlight. Jamie joins us to give us a lesson in the basics of genetics and to share her expertise and insights on MCHS. Some subjects covered include: The difference between nucleotides, genes, and chromosomes How your body reads DNA Introns vs Exons The different kinds of genetic variants Ge...

In today’s episode, we are joined by Sheila and Richard Carter, parents to Richmond. Sheila and Richard  join us to discuss Richmond’s journey to diagnosis, their lives as MCHS parents, and tips and tricks learned along the way. Some highlights include: The power of a mother’s intuition and how it led her to seek diagnosis  Richmond’s struggles with abdominal migraines Richmond’s daily life now Ri...

In today’s episode, we are joined by Caroline Claflin, parent to Darwin and co-founder of the MEF2C Family Foundation. Caroline joins us to discuss Darwin’s journey to diagnosis, her adventures in being an MCHS parent, and tips and tricks learned along the way. We also speak about the MEF2C Family Foundation and its role in the community. Some highlights include: The power of a mother’s intuition...

In today’s 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/unreliably speaking people and the S2C system. Some highlights include: The philosophy and controversy around spelling  Who could benefit from spelling to communicate The...

In today’s episode, we are joined by James Kelly and Lorena In today’s episode, we are joined by James Kelly and Lorena García Fernández, founders of the MEF2C Foundation and parents to Elijah. James is also a board member for Rare Bird. Lenora and James join us to discuss their journey to diagnosis with Elijah and how that inspired them to start the MEF2C Foundation. They tell us about the ins-an...

In today’s episode, we are joined by Erin Kindrachuk and Chris Kninitski, co-founders of the MEF2C Family Foundation and parents to Sam. Erin and Chris join us to discuss Sam’s journey to diagnosis, what Sam’s life looks like now, and lessons they learned along the way. Next, we talk about the highs and lows of parenting someone with MCHS and how it has transformed them as people. Chris and Erin t...

In today’s episode of the MEF2Cast, we interviewed Dr. Christopher Cowan, a neuroscientist studying neurodevelopmental conditions like MCHS. Dr Cowan joins us to discuss the role of MEF2C in the brain and its development and how that manifests in MCHS. Dr Cowan shares some insight on the relationship between autism and MCHS. We also discuss target site blockers (TSBs), a potential treatment for MC...

In today’s episode of the MEF2Cast, we interviewed Dr. Wendy Chung, a medical geneticist and Chair of Pediatrics at Boston Children’s Hospital and a researcher studying neurogenetic conditions like MCHS. Dr. Chung is a member of the Scientific Advisory Board for the US MEF2C Foundation; some of our listeners may have heard her speak at the foundation’s conference in October 2024. In this episode,...

In this episode, we speak with Becky and Brandon, from Canada, about their son Bodie. We discuss Bodie's story, their journey with MCHS, and what everyday life looks like for their family. We hope you enjoy! Takeaways: Bodie's early signs included lack of eye contact and delayed milestones. The importance of early intervention in developmental delays. Navigating the healthcare system can v...

This conversation explores the journey of Susan Simmons and her son Andrew, who has autism and MEF2C. Susan shares insights into Andrew's early development, the challenges of his diagnoses, and the emotional impact of discovering his ability to communicate. The discussion highlights the evolution of Andrew's communication methods and the family's ongoing journey towards understanding and advocacy....

In this conversation, Meredith and Aleah share their experiences navigating the challenges of diagnosis, early intervention, and the emotional impact of raising children with unique needs. They discuss the importance of community support, advocacy, and the hope that drives them to create a better future for their children. The launch of the MEF2C Family Foundation aims to provide resources, connec...

Enjoy this introduction for our new podcast where we explain who we are, why we started the podcast, how it will work, and give a brief overview of MEF2C Haploinsufficiency Syndrome. Key takeaways include: Creating a space for fellowship and connection within the MCHS community is essential. The podcast will feature interviews with experts and parents to share insights on MCHS. MCHS has a signific...