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

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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

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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

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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

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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

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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

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In 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 turning point for her family, reshaping the path ahead and redefining what it means to navigate uncertainty with courage and love.

Subjects covered include:

• The emotional impact of receiving Jess’s diagnosis

• Panic, relief, and the duality of complex emotions

• How written confirmation changed the family’s understanding

• Processing fear and uncertainty in the early days

• Finding direction in moments that feel overwhelming

• How one pivotal letter reshaped their journey moving 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: ⁠[email protected]⁠📘 Connect with us on Facebook: ⁠https://www.facebook.com/profile.php?id=61572393046749⁠

In 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 turning point for her family, reshaping the path ahead and redefining what it means to navigate uncertainty with courage and love.

Subjects covered include:

• The emotional impact of receiving Jess’s diagnosis

• Panic, relief, and the duality of complex emotions

• How written confirmation changed the family’s understanding

• Processing fear and uncertainty in the early days

• Finding direction in moments that feel overwhelming

• How one pivotal letter reshaped their journey moving 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: [email protected]
📘 Connect with us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

In 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 ongoing work of advocating within medical, educational, and community systems.

The conversation highlights Andrew’s growth through adaptive CrossFit, the role music plays in his life, and the profound impact of finding a community of families who truly understand this rare journey. Through Susan’s story, we explore what it means to build communication, create connection, and parent with patience, persistence, and deep love.

Subjects covered include:
• Andrew’s late MEF2C diagnosis and Susan’s relief in having answers
• The emotional challenges of parenting a child with disabilities
• Understanding ineffective communication and building better communication systems
• The importance of age-appropriate interactions for development
• Sleep challenges and behavioral communication
• Stimming and its role in regulation and growth
• Navigating medical and educational systems with persistence
• Advocacy as an essential part of parenting
• The value of finding a supportive community
• How love, patience, and understanding shape the journey

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In 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 reflects on the moment everything changed—the diagnosis—and the mix of grief, clarity, and hope that followed. Together, they describe their journey into AAC, how their initial hesitations transformed into encouragement, and how communication devices have opened new doors for Boston.

Throughout the conversation, the Bruces emphasize the importance of trusting your instincts, meeting your child exactly where they are, and embracing each developmental step with patience and love. They explore the evolving relationship between their daughters, the role of therapeutic interventions balanced with natural family experiences, and the powerful impact of community support.

Above all, this episode is a reminder that every family’s story is unique—and that the smallest steps often carry the biggest meaning.

Subjects covered include:

• Parenting through developmental delays and CVI

• The emotional journey of receiving a diagnosis

• Sleep challenges and early routines

• Embracing AAC and communication devices

• Celebrating small milestones and everyday victories

• Navigating sibling dynamics with intention

• Balancing therapy goals with real-life experiences

• Advocacy, community support, and building a village

• Hopes for communication, independence, and Boston’s future

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