Avsnitt
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In 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. Additionally, Eli speaks briefly to issue some clarifications/corrections for previous episodes and discuss our plans to solicit questions/topics from our listeners.
If you liked this episode, please comment, review, and subscribe to hear more episodes like this one.
If you have any questions, concerns, or are interested in being a guest, please reach out to us via Facebook or email.
Thank you to all of our listeners for their time!
Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749
Email us: [email protected]
Learn more about Dr. Chung and her work with the US MEF2C Foundation: https://www.usmef2cfoundation.org/
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In 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.
Daycare can provide essential socialization and support for children with special needs.
Parents often face unique challenges in balancing family dynamics with special needs.
Finding positivity and strength in the journey of parenting a child with special needs.
Connecting with other parents can provide invaluable support and insights.
Acceptance of each child's unique timeline is crucial for parents.
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Saknas det avsnitt?
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This 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 of building a supportive community. They also touch on the challenges of sleep, behavioral communication, and navigating medical and educational systems, while emphasizing the importance of love, patience, and understanding in parenting.
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In 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.takeaways
Parenting 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 the future.Sharing experiences with other parents fosters connection and understanding.Hope is a powerful motivator for advocacy and change.Early intervention can significantly impact a child's development.Parents often feel overwhelmed by the demands of therapy and support.The love from neurodivergent children is profound and transformative.Creating a foundation can help provide resources and support for families. -
Enjoy 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 are only about 400 known cases of MCHS globally, leading to limited support.
Diagnosis of MCHS can be challenging due to its rarity and symptom overlap with other conditions.
The podcast aims to provide practical information that is digestible and applicable to everyday life.
Community resources, such as Facebook groups, are invaluable for families affected by MCHS.
The hosts bring a mix of scientific understanding and personal experience to the conversation.
The goal is to educate and support families, caretakers, and medical professionals about MCHS.
