Shows
MEF2CastEpisode 32: Growing Up With OscarIn 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 conversation explores the evolving journey of communication with Oscar, the deep love woven into their family dynamic, and how their parents worked tirelessly to create a childhood that felt full, balanced, and supported. Maddie...
2025-12-1943 minMEF2CastEpisode 31: Nine Months of Progress: Hosts Only EpisodeIn 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 confidence.We also look back on the evolution of the MEF2Cast itself—how this podcast has woven into our daily lives, the ways our community has shown up for u...
2025-12-1244 minMEF2CastEpisode 30: Holding Fear and Hope Together with Caroline DonnellyIn 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 something so significant about your child: the panic that hits before the facts can settle, the instinct to protect, and the quiet reassurance that comes from finally having answers. Caroline reflects on how the diagnosis became a tu...
2025-12-071h 20MEF2CastEpisode 30: Holding Fear and Hope Together with Caroline DonnellyIn 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 something so significant about your child: the panic that hits before the facts can settle, the instinct to protect, and the quiet reassurance that comes from finally having answers. Caroline reflects on how the diagnosis became a tu...
2025-12-051h 19MEF2CastCore Conversations: Susan SimmonsIn 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—after years of ineffective and misunderstood communication—transformed their family. She opens up about the emotional toll of parenting a child with complex needs, the importance of age-appropriate interactions, and the on...
2025-11-291h 21MEF2CastEpisode 29: Small Wins, Big Love with Shawnacy and Cody BruceIn 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 into every small win along the way.Cody talks openly about becoming a proud “girl dad,” the unexpected lessons that come with sleep deprivation, and the growing bond he shares with Boston. Shawnacy reflec...
2025-11-141h 24MEF2CastEpisode 28: The Evolution of Imperfection with Dr Laurence HurstIn 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 one shaped by inefficiency, chance, and constraint.The conversation sheds light on how high mutation rates in humans contribute to rare genetic diseases, and how medicine serves as a powerful co...
2025-11-0758 minMEF2CastCore Conversations: MEF2C and the Immune System with Dr. Tim O'SullivanIn 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 functionHow MEF2C may affect lipid metabolism and, therefore, immune functionOleic acid as a potential treatment for MEF2C-related immune deficiencyThe current landscape of scientific funding and why you should careThe impo...
2025-10-3139 minMEF2CastEpisode 27: Parenting Through Diagnosis with Moriah and Adam ZwickIn 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 the realities of parenting a child with special needs, with a particular focus on Cortical Visual Impairment (CVI) and the importance of early diagnosis and intervention. Together, we discuss how intuition guided their search fo...
2025-10-241h 20MEF2CastEpisode 26: Gene Therapy Research with Dr. Steven Gray and Caroline ClaflinIn 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 neurodevelopmental diseases such as Rett syndrome and MEF2C-related disorders. Caroline discusses the foundation’s new partnership with Dr. Gray’s lab, uniting science and community advocacy to explore AAV9 vector technology as a potential treatmen...
2025-10-1744 minMEF2CastEpisode 25: Understanding ABA with Erika AndersonIn 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 transformed from its controversial roots to a more compassionate, individualized approach.The conversation highlights the importance of functional communication, understanding behaviors like stimming as self-regulation, and recognizing progress in every form. Erica also explains the BCBA’s role wi...
2025-10-1048 minMEF2CastCore Conversations: Spelling to Communicate (S2C) with Sam FoxIn 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 spellingWho could benefit from spelling to communicateThe challenges of apraxia and how spelling can helpThe relationship between the speller and communication partnersThe importance of pr...
2025-10-041h 27MEF2CastCore Conversations 1- Dr Cowan RevisitedIn 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 autism spectrum disorders, sleep regulation, motor coordination, and sensory processing.The discussion highlights ongoing research into therapeutic strategies—including the promise of gene therapy and viral delivery of MEF2C—and underscores the vital role fami...
2025-09-2647 minMEF2CastEpisode 24: Autism and Movement with Sheena LeedhamEpisode 24: Autism and Movement with Sheena LeedhamIn 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 structured training can be adapted to meet the needs of autistic individuals. Sheena explains why creating a supportive environment matters, how integrating choice and motivation can boost engagement, and why observational skills are critical for trainers...
2025-09-1952 minMEF2CastEpisode 23: Finding Joy In Everyday Moments with Blake KellyIn 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 caregiving, and the unique personality and humor of her son. The conversation highlights the ongoing challenges of managing seizures and the innovative approaches that have made a difference in Oscar's life. In this conversation, Blake...
2025-09-111h 13MEF2CastEpisode 22: The Volāre Study — Community, Data, and Hope with Dr. Zachary GrinspanIn 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 how EEG data may unlock new biomarkers to guide treatment.The conversation explores the complexities of sleep disturbances in affected children, the study’s mix of in-person and virtual participation, and...
2025-09-0536 minMEF2CastEpisode 21: Personal Journeys, Professional Breakthroughs with Kristina JohnsonIn 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 professional paths converged as she transitioned from physics to a career in child development and communication sciences.The conversation highlights the importance of parental advocacy, the emotional realities of raising a child with comp...
2025-08-291h 28MEF2CastEpisode 20: Coping, Growing, and Thriving with Jennifer and Keith AguirreIn 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 challenges and the hope found in parenting a child with complex needs. Jennifer and Kieth open up about coping with grief, fostering Maddie’s independence, and the transformative role of music, technology, and alternative communication methods in her...
2025-08-221h 45MEF2CastEpisode 19: MEF2C – From Research to Real Life with Dr. Steve Skinner and Dr. Jessica Cooley-ColemanIn 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 sheds light on the importance of natural history studies, the relationship between MEF2C and autism, and the ongoing challenges families face when navigating the medical landscape. Dr. Skinner and Jessica emphasize how continued research, collaboration, and family participation are...
2025-08-151h 08MEF2CastEpisode 18: Hope in Every Step with Nicki and Kyle🎙️ 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 and interventions that have helped Taylor, the communication breakthroughs they’ve experienced, and the importance of advocacy in navigating this path.Some highlights include:The winding journey to Taylor’s diag...
2025-08-091h 08MEF2CastEpisode 18: Hope in Every Step with Nicki and Kyle🎙️ 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 and interventions that have helped Taylor, the communication breakthroughs they’ve experienced, and the importance of advocacy in navigating this path.Some highlights include:The winding journey to Taylor’s diag...
2025-08-081h 08MEF2CastEpisode 17: Interdisciplinary Approaches to Therapy with Lauren, Kaycee, and TylerIn 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 therapyHow interdisciplinary collaboration enhances treatment outcomesThe importance of personalized care in pediatric therapyStrategies for engaging children in therapeutic activitiesThe value of building a supportive therapy teamAnd so much more!If you liked this episode, please comment, review, and...
2025-07-241h 11MEF2CastEpisode 16: Therapy, Advocacy, and Family with Camila and JedidiahIn 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 diagnosisHow Jedidiah and Camila are processing the diagnosisTherapeutic techniques that have been useful for MargoThe importance of having a good care team The support therapists provide to both the patient and their familiesAnd so much more!If you lik...
2025-07-181h 31MEF2CastEpisode 15: MEF2C and the Immune System with Dr Tim O'SullivanIn 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 functionHow MEF2C may affect lipid metabolism and, therefore, immune functionOleic acid as a potential treatment for MEF2C-related immune deficiencyThe current landscape of scientific funding and why you should careThe impo...
2025-07-1137 minMEF2CastEpisode 14: Adoption, Advocacy, and MEF2C with Addyson MooreIn 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 careHer experiences with the adoption processChallenges in navigating medical care and therapiesFinding organizations in the community that help support people with special needsAddyson's other experiences with advocacy and policy around special needsand so much more!If you liked this episode, please comment, review, and subscribe to hear more episodes like...
2025-07-0454 minMEF2CastEpisode 13: The Essentials of MCHS and TSBs with Alain GreigeIn 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 developmentThe relationship between autism and MCHSTSBs as treatment for MCHS and what that might look likeThe importance of the community’s involvement in researchAnd so much more!If you liked this episode, please comment, review, and subscribe to hear mor...
2025-06-2752 minMEF2CastEpisode 12: Interpreting Genetics with Jamie Lundy of Simons SearchlightIn 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 chromosomesHow your body reads DNAIntrons vs ExonsThe different kinds of genetic variantsGenotype vs phenotypeGermline mosaicismThe various types of genetic testingAnd so much more!If...
2025-06-2044 minMEF2CastEpisode 11: Resilience and Hope with Richard and Sheila CarterIn 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 migrainesRichmond’s daily life nowRichmond’s use of an eye-gaze deviceThe pros and cons of receiving diagnosis and how to transmute the uncertaint...
2025-06-131h 40MEF2CastEpisode 10: Putting In The Work With Caroline ClaflinIn 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 and how it led her to seek diagnosis The work that people with MCHS put in every dayThe therapies that ha...
2025-06-061h 29MEF2CastEpisode 9: Spelling to Communicate (S2C) with Sam FoxIn 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 communicateThe challenges of apraxia and how spelling can helpThe relationship between the speller and communication partnersThe importance of presuming competenceT...
2025-05-301h 25MEF2CastEpisode 8: Pathways to Hope with James Kelly & Lorena García FernándezIn 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-and-outs of Elijah’s everyday life and tips and tricks they've picked up along the way. We also discuss their experience with usi...
2025-05-231h 37MEF2CastEpisode 7: From Diagnosis to Advocacy with Chris & Erin: MEF2C Family Foundation CofoundersIn 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 tell us about how they decided to help start the family foundation and how they hope the foundation can support the community. Finally, we dis...
2025-05-161h 34MEF2CastEpisode 6: The Inner Workings of MCHS with Dr. Christopher CowanIn 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 MCHS being studied in Dr. Cowan’s lab. Finally, we talk about the future of treatment and how the community can support the efforts of researchers like Dr. Cowan. If you liked...
2025-05-1047 minMEF2CastEpisode 5: Exploring MEF2C with Dr. Wendy ChungIn 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, we discuss the basics of MEF2C and MCHS, the importance of diagnosis, where we’re at in the process of finding a treatment, and what the future might look like. Addition...
2025-05-0232 minMEF2CastEpisode 4: An Everyday Perspective: Life with MCHS with Becky and BrandonIn 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 vary significantly by country.Communication challenges are a major concern for parents of children with MCHS.Therapeutic approaches can lead to gradual progress in milestones.
2025-04-2443 minMEF2CastEpisode 3: Finding Andrew's Voice with Susan SimmonsThis 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. This conversation delves into the experiences of parenting a child with MF2C, focusing on communication, advocacy, and the emotional challenges faced by parents. The speakers discuss the importance of age-appropriate interactions, the need for effective communication methods, and the significance...
2025-04-171h 20MEF2CastEpisode 2: From Diagnosis to Action: The MEF2C Family Foundation with Meredith and AleahIn 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, connection, and empowerment for families facing similar challenges.takeawaysParenting neurodivergent children comes with unique challenges.The journey to diagnosis can be emotionally taxing.Community support is crucial for parents.Living in the present helps alleviate anxiety about...
2025-04-101h 24MEF2CastEpisode 1: Get to Know Us and MCHS ExplainedEnjoy 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 significant overlap with autism in terms of symptoms.Understanding the MEF2C gene is crucial for grasping the implications of MCHS.There...
2025-04-0829 min