Shows
MEF2CastEpisode 17: Interdisciplinary Approaches to Therapy with Lauren, Kaycee, and TylerHere's an episode description using your provided template: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 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 yo...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