MEF2Cast

MEF2Cast

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. 27 MARS

    Episode 39: Childhood Apraxia of Speech and IEP Advocacy | Jordan LeVan

    In this episode of MEF2Cast, we sit down with Jordan LeVan to explore his powerful journey living with childhood apraxia of speech (CAS). Jordan shares what it was like growing up with a motor planning disorder that made verbal communication incredibly challenging, and how early struggles in diagnosis and therapy shaped his path forward. Through an honest and insightful conversation, Jordan breaks down the realities of speech therapy for children with CAS, emphasizing the importance of understanding motor planning and individualized approaches to communication. He also highlights how communication disorders can impact not just speech, but learning, confidence, and social-emotional development. A passionate advocate, Jordan dives into the critical role families play in navigating IEPs and special education systems. He shares practical strategies for parents, including understanding their legal rights, preparing for meetings, and ensuring their child receives appropriate services—whether through speech therapy or AAC tools. Jordan also discusses his advocacy work through the Apraxia Foundation and Fighting for My Voice, organizations dedicated to raising awareness and improving support for individuals with communication disorders. This episode is both empowering and informative for parents, educators, and anyone seeking to better understand the lived experience of CAS—and how advocacy can truly change lives. Jordan’s personal experience with childhood apraxia of speechUnderstanding CAS as a motor planning disorderChallenges in speech therapy and effective approachesThe impact of communication disorders on education and emotional healthNavigating IEPs and special education advocacyLegal rights under IDEA and FERPAThe role of AAC and alternative communication methodsAdvocacy through the Apraxia Foundation and Fighting for My Voicehttps://apraxiafoundation.org/https://fightingformyvoice.com/https://www.facebook.com/fightingformyvoice/🌐 Visit our website: mef2cast.com 🛒 Check out our merch: mef2cast.printify.me 📩 Questions, comments, or interested in being a guest? Email us at: info@mef2cast.com 📘 Connect with us on Facebook: facebook.com/mef2cast 🧠 Subjects Covered:🌐 Resources:📩 Connect with MEF2Cast:

    51 min

  2. 13 MARS

    Episode 38: Finding the Path with Audra and Phil Kimmett

    In this episode of MEF2Cast, we sit down with Audra and Phil Kimmett to talk about their journey raising their son William, who was diagnosed with MEF2C haploinsufficiency syndrome (MCHS). Through a candid and heartfelt conversation, Audra and Phil share the early signs that something in William’s development was different, the long road to diagnosis, and how they learned to navigate the complex world of therapies, specialists, and advocacy. The Kimmetts reflect on the importance of early intervention and the many therapies that can support children with MEF2C, while emphasizing that every child’s path is unique. They also discuss how connecting with other families through online support groups provided insights and emotional support that often go beyond what medical literature can offer. Beyond the day-to-day realities of caregiving, the conversation explores the long-term considerations families must face, including financial planning, legal preparation, and ensuring the best possible future for children with complex needs. With honesty and compassion, Audra and Phil highlight the physical and emotional demands of caregiving while reminding parents of the importance of taking care of themselves along the way. Subjects covered include: Early signs of developmental differences and the path to diagnosis Navigating medical systems and advocating for a child with MEF2C Therapies and interventions that support developmental progress The value of Facebook and online support communities for families Understanding CVI and communication supports like AAC The realities and physical demands of caregiving Long-term planning, including financial and legal considerations Why self-care for parents matters: “Put your oxygen mask on first” 🌐 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 h 17 min

  3. 27 FÉVR.

    Episode 37: Therapy, Parenthood, and Family with Julia Irwin

    In this episode of the MEF2Cast, we sit down with Julia Irwin, mom to Elsie, to share their family’s journey with MEF2C haploinsufficiency syndrome. Julia reflects on Elsie’s early birth and low birth weight, the first signs that something more might be going on, and the long, often complicated road to diagnosis within the Canadian healthcare system. Our conversation explores what it means to finally have a name for what your child is experiencing—and the mix of relief, grief, and clarity that can come with a genetic diagnosis. Julia opens up about navigating therapies and adaptive strategies, building the right care team, and how tools like a service dog have supported Elsie’s safety, independence, and emotional regulation. We also talk candidly about the emotional landscape of parenting a child with complex needs: advocacy, sibling dynamics, educational decisions, sleep challenges, seizures, and the constant need to adapt as children grow. Julia’s story is a powerful reminder of resilience, authenticity, and the importance of community—while also acknowledging how overwhelming that community can sometimes feel. Subjects covered include: Elsie’s early birth, low birth weight, and delayed milestones Seizure onset and the path to genetic testing and diagnosis Navigating healthcare systems and advocacy in Canada The role of therapy and adaptive strategies in daily life How a service dog supports safety, calm, and independence Parenting challenges, emotional resilience, and long-term planning Educational pathways and sibling relationships in special needs 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📸 Follow us on Instagram: https://www.instagram.com/mef2cast/🎵 Follow us on TikTok: https://www.tiktok.com/@mef2cast

    1 h 4 min

  4. 6 FÉVR.

    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 min

  5. 30 JANV.

    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 h 30 min

  6. 23 JANV.

    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 h 17 min

  7. 16 JANV.

    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 min

  8. 9 JANV.

    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 min
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À propos

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

Informations

  • Création
    MEF2Cast
  • Années d’activité
    2025 - 2026
  • Épisodes
    45
  • Classification
    Contenu explicite
  • Copyright
    © MEF2Cast
  • Site web de l’émission
    MEF2Cast