Episodes

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 rollercoa...

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 ...

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 fam...

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 reloc...

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,...

🎙️ 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 r...

🎙️ 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 r...

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 imp...

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 in...

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 funct...

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 fos...

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 ne...

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...

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 w...

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 ti...

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-spea...

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 fo...

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...

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 ...

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...

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'...

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 discove...

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 commu...

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 fo...