MEF2Cast

MEF2Cast
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Haley and Eli, parents of a child with MEF2C Haploinsufficiency Syndrome (MCHS), speak to both other parents and scientific experts to educate, support, and build community around MCHS

  1. 6 ФЕВР.

    Core Conversations: Dr Christopher Cowan

    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 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 families play in advancing this science. By understanding MEF2C’s multifaceted impact on the brain, researchers and families alike can work together to build the foundation for more effective treatments for conditions like MCHS. Subjects covered include: Understanding MEF2C as a transcription factor in brain development How MEF2C loss contributes to autism and related disorders The balance between excitatory and inhibitory neurons Why neuronal pruning is key to healthy brain function Links between MEF2C and sensory, motor, and sleep regulation The influence of microglia on brain health Current therapeutic approaches, from gene therapy to viral delivery Why family engagement is essential for moving research forward 🌐 Visit our website: mef2cast.com 🛒 Check out our merch store: mef2cast.printify.me 📩 Questions, comments, or interested in being a guest? Email us at: mef2cast@gmail.com 📘 Connect with us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

    48 мин.

  2. 30 ЯНВ.

    Core Conversations- Jennifer and Keith Aguirre

    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 — from the long road to diagnosis, to relocating to Colorado in search of better resources, to the everyday realities of navigating education, life skills, and community support. This honest and grounding conversation centers on what it means to parent a child with complex needs, while holding space for both grief and hope. Jennifer and Keith open up about fostering Maddie’s independence, embracing alternative communication and technology, and witnessing the powerful ways music has shaped her growth. Their story is one of perseverance, resilience, and deep love, offering encouragement and connection to families walking a similar path. Subjects covered include: The Aguirre family’s move to Colorado for resources and support Maddie’s early development and diagnosis journey Limited education options and the shift toward life-skills-focused learning Coping with grief as parents of a child with special needs Building and sustaining meaningful community connections The impact of music therapy on communication and growth Technology’s role in learning and engagement Alternative communication methods for non-speaking individuals Fostering independence and future hopes The unique ways children express love and emotion 🌐 Visit our website: mef2cast.com 🛒 Check out our merch store: mef2cast.printify.me 📩 Questions, comments, or interested in being a guest? Email us at: mef2cast@gmail.com 📘 Connect with us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

    3 ч. 30 мин.

  3. 23 ЯНВ.

    Episode 36: Navigating MCHS with Helle and Andreas

    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 daily life with MCHS, including the role of home-based therapies, thoughtful dietary changes, and the ongoing search for effective communication strategies. Helle also speaks candidly about the emotional complexity of raising a child with significant support needs, the impact on family dynamics, and the powerful role siblings can play along the way. Throughout the episode, Helle emphasizes resilience, adaptability, and hope, offering an honest look at both the challenges and meaningful moments that define their journey. This is a deeply personal conversation about love, persistence, and what it means to keep moving forward when the path is uncertain. Subjects covered include: Early signs and the journey to an MCHS diagnosis The importance of early intervention and parental advocacy Home-based therapy approaches and their impact over time Dietary considerations and overall health Communication tools and strategies Navigating social situations and building confidence The role of siblings and family support Balancing day-to-day realities with long-term hopes for the future 🌐 Visit our website: mef2cast.com🛒 Check out our merch store: mef2cast.printify.me📩 Questions, comments, or interested in being a guest? Email us at: mef2cast@gmail.com📘 Connect with us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

    1 ч. 17 мин.

  4. 16 ЯНВ.

    Episode 35: Understanding Leucovorin with Dr. Elizabeth Laughlin, PharmD

    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. The conversation dives into the current research surrounding cerebral folate deficiency, why some children may respond differently to treatment, and how side effects such as hyperactivity or irritability can sometimes be misunderstood. Dr. Laughlin also discusses important drug interactions, particularly with anti-epileptic medications, and why careful monitoring and collaboration with healthcare providers is essential. We also talk about advocacy, empowering parents with knowledge, and how to have productive, goal-oriented conversations with medical teams. Looking ahead, Dr. Laughlin shares insight into how genetic testing and personalized medicine may shape the future of Leucovorin use and other targeted therapies. Subjects covered include: What Leucovorin is and how it differs from other forms of folate How Leucovorin supports folate transport in the brain Current research on cerebral folate deficiency and neurological conditions Common side effects and how to interpret them Drug interactions and safety considerations The importance of parent advocacy and clear communication with providers Long-term use, monitoring, and realistic expectations The future of genetic testing and personalized treatment approaches 🌐 Visit our website: mef2cast.com🛒 Check out our merch store: mef2cast.printify.me📩 Questions, comments, or interested in being a guest? Email us at: mef2cast@gmail.com📘 Connect with us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

    37 мин.

  5. 9 ЯНВ.

    Episode 34: MEF2C Foundation Australia with Sean Rafferty and Claire Bothwell

    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 explores the challenges of building a foundation from the ground up, from navigating logistics and sustainability to finding balance as parents and advocates. Sean and Claire emphasize the power of community building, the importance of meaningful research partnerships, and how connection can bring hope to families who often feel isolated in their diagnosis. They also discuss innovative, community-driven fundraising efforts, including running events and virtual fundraisers, and how breaking big goals into manageable steps has helped them grow their impact. Throughout the episode, Sean and Claire highlight the strength that comes from shared experiences and the vital role families play in shaping the future of MCHS support and research. Subjects covered include: Why and how the Australian foundation for MCHS was created The importance of community building and peer support Creative and inclusive fundraising strategies Running events as a powerful fundraising and awareness tool Expanding reach through virtual fundraising opportunities The teamwork and commitment required to start a foundation How connection and shared experiences foster hope for families 🌐 Visit our website: mef2cast.com🛒 Check out our merch store: mef2cast.printify.me📩 Questions, comments, or interested in being a guest? Email us at: mef2cast@gmail.com📘 Connect with us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

    37 мин.

  6. 2 ЯНВ.

    Episode 33: Balancing Care and Family Life with Sean Rafferty and Claire Bothwell

    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. The conversation explores their experience from the early days of diagnosis to the role community support has played in sustaining their family. Sean and Claire reflect on the emotional weight of uncertainty, the importance of trusting parental intuition, and how motivation and individualized approaches can shape development. They also discuss sleep challenges, seizure management, communication tools, and the constant need to weigh medical interventions against overall family well-being. Throughout the episode, Sean and Claire emphasize the power of shared stories, small milestones, and intentional balance—reminding listeners that while the journey can be exhausting, it is also filled with growth, resilience, and hope for the future. Subjects covered include: Navigating the diagnosis and early stages of MCHS Balancing therapy demands with family and sibling relationships Sleep challenges and the impact on the entire household Managing seizures and advocating within the medical system The role of motivation in development and learning Communication tools and evolving interaction strategies Community support and collaboration among families Finding perspective through small milestones and shared experiences 🌐 Visit our website: mef2cast.com🛒 Check out our merch store: mef2cast.printify.me📩 Questions, comments, or interested in being a guest? Email us at: mef2cast@gmail.com📘 Connect with us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

    1 ч. 38 мин.

  7. 19.12.2025

    Episode 32: Growing Up With Oscar

    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 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 and Max also speak to the crucial role of PCAs, the protective instincts that emerged over time, and the quiet challenges siblings often carry—even when resentment is rare. They offer thoughtful guidance for families walking similar paths, emphasizing transparency, education, and the importance of caring for oneself while caring for others. Their perspective highlights not only the complexities of growing up with a disabled sibling, but also the joy, connection, and resilience that define their bond with Oscar. Subjects covered include: Early memories and first impressions of Oscar Gradual realizations of developmental differences How communication with Oscar has changed over time Family dynamics and the influence of supportive parents The essential role of PCAs in daily life Navigating sibling emotions, confusion, and protectiveness Advocating for disability awareness and understanding Why self-care matters for parents and siblings alike 🌐 Visit our website: mef2cast.com 🛒 Check out our merch store: mef2cast.printify.me 📩 Questions, comments, or want to be a guest? Email us: mef2cast@gmail.com 📘 Connect with us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

    43 мин.

  8. 12.12.2025

    Episode 31: Nine Months of Progress: Hosts Only Episode

    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 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 us, and what we’ve learned as we continue building a space for families walking similar paths. From navigating the IEP process to celebrating health improvements with L-Methylfolate and Leucovorin, we discuss the milestones, challenges, and support systems that have carried us forward. The conversation touches on our favorite toy recommendations for children with similar needs, the role of therapists in Leo’s progress, and our hopes as we explore new ways to grow the podcast and create more content for the community we love. Subjects covered include: Leo’s developmental milestones and early steps Progress with communication through signs and gestures School updates, therapies, and the IEP journey How L-Methylfolate and Leucovorin have impacted Leo’s health The evolution of the MEF2Cast and future plans The importance of supportive therapists and community Toy recommendations based on sensory needs and interests 🌐 Visit our website: mef2cast.com🛒 Check out our merch store: mef2cast.printify.me📩 Questions, comments, or interested in being a guest? Email us: ⁠mef2cast@gmail.com⁠📘 Connect with us on Facebook: ⁠https://www.facebook.com/profile.php?id=61572393046749

    45 мин.
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Haley and Eli, parents of a child with MEF2C Haploinsufficiency Syndrome (MCHS), speak to both other parents and scientific experts to educate, support, and build community around MCHS

Информация

  • Автор
    MEF2Cast
  • Годы выхода
    2025 - 2026
  • Выпуски
    42
  • Ограничения
    Без ненормативной лексики
  • Авторские права
    © MEF2Cast
  • Сайт подкаста
    MEF2Cast