MEF2Cast

In this episode, we sit down with Jennifer and Kieth 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 ongoing process of navigating education, life skills, and community support.

The conversation highlights both the challenges and the hope found in parenting a child with complex needs. Jennifer and Kieth open up about coping with grief, fostering Maddie’s independence, and the transformative role of music, technology, and alternative communication methods in her development. Their story is one of perseverance, resilience, and love — offering encouragement to families walking a similar path.

Subjects covered include:

• The Aguirre family’s move to Colorado for resources and support

• Challenges in Maddie’s early development and diagnosis journey

• Limited education options and the shift toward life skills

• Coping with grief as parents of a child with special needs

• The importance of community connections for Maddie’s well-being

• The impact of music therapy on communication and growth

• Technology’s role in learning and engagement

• Alternative communication methods for non-verbal children

• Fostering independence and future aspirations

• The unique ways children express love and emotions

🌐 Visit our website: mef2cast.com
🛒 Check out our merch store: mef2cast.printify.me

In this episode, we sit down with Dr. Steve Skinner, CEO of Greenwood Genetic Center (GGC), and Jessica Cooley-Coleman, a genetic counselor at GGC, to explore the complexities of MEF2C haploinsufficiency syndrome. Together, they share their personal journeys in the field, discuss the genetic underpinnings of the condition, and explain the clinical features observed in patients. The conversation sheds light on the importance of natural history studies, the relationship between MEF2C and autism, and the ongoing challenges families face when navigating the medical landscape. Dr. Skinner and Jessica emphasize how continued research, collaboration, and family participation are key to improving understanding and developing future treatment options. Subjects covered include:

• The role of the MEF2C gene in development

• Insights from natural history studies

• Seizures in MEF2C haploinsufficiency

• MEF2C’s connection to autism

• Understanding how genetic mutations occur

• Variability in dysmorphic features

• Potential cardiac associations

• Genotype-phenotype correlations

• Family involvement in research

• Future directions in gene therapy and editing

  
  

🌐 Visit our website: mef2cast.com
🛒 Check out our merch store: mef2cast.printify.me
🔬 Learn more about GGC: www.ggc.org

🎙️ In today’s episode, we’re joined by the Bouvier family as they share their heartfelt journey with their daughter, Taylor, who has Mef2C Haploinsufficiency Syndrome (MCHS).

Together, we discuss the emotional and practical realities of parenting a child with special needs—from the long road to diagnosis to the power of building a strong support network. The Bouviers open up about the therapies and interventions that have helped Taylor, the communication breakthroughs they’ve experienced, and the importance of advocacy in navigating this path.

Some highlights include:

• The winding journey to Taylor’s diagnosis

• Building a support system that truly understands

• How therapies have shaped Taylor’s development

• Evolving communication and celebrating every win

• Advocacy in medical and educational settings

• The emotional toll—and the joy—of special needs parenting

• Holding onto hope for a brighter future for kids with MCHS

…and so much more.

If this episode resonated with you, please like, share, and subscribe to hear more stories from the MCHS community.

📧 Questions or want to be a guest? Email us at ⁠[email protected]⁠📱 Connect with us on Facebook: ⁠https://www.facebook.com/profile.php?id=61572393046749⁠🌐 Visit our website: ⁠www.mef2cast.com⁠🛍️ Check out our merch: ⁠mef2cast.printify.me⁠

Thank you for being here. We’re so grateful for each of you. 💚

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 therapy
• ​How interdisciplinary collaboration enhances treatment outcomes
• ​The importance of personalized care in pediatric therapy
• ​Strategies for engaging children in therapeutic activities
• ​The value of building a supportive therapy team

And so much more!

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. We love you all!

Buy MEF2Cast gear: https://mef2cast.printify.me/

Find us on Facebook: [Facebook Link]

Email us: [email protected]

In 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 diagnosis

• How Jedidiah and Camila are processing the diagnosis

• Therapeutic techniques that have been useful for Margo

• The importance of having a good care team 

• The support therapists provide to both the patient and their families

And so much more!

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. We love you all!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]

In 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 function

• How MEF2C may affect lipid metabolism and, therefore, immune function

• Oleic acid as a potential treatment for MEF2C-related immune deficiency

• The current landscape of scientific funding and why you should care

• The importance of scientific curiosity and how it can lead to unexpected discoveries

And so much more!

The videos Dr O’Sullivan mentions can be found here: https://www.youtube.com/watch?v=lXfEK8G8CUI

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. We love you all!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]

In 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 care
• Her experiences with the adoption process
• Challenges in navigating medical care and therapies
• Finding organizations in the community that help support people with special needs
• Addyson's other experiences with advocacy and policy around special needs

and so much more!

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. We love you all!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]

In 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 development

• The relationship between autism and MCHS

• TSBs as treatment for MCHS and what that might look like

• The importance of the community’s involvement in research

And so much more!

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. We love you all!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]

In 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 chromosomes

• How your body reads DNA

• Introns vs Exons

• The different kinds of genetic variants

• Genotype vs phenotype

• Germline mosaicism

• The various types of genetic testing

And so much more!

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. We love y’all!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]

Find Simons Searchlight here: 

In 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 migraines

• Richmond’s daily life now

• Richmond’s use of an eye-gaze device

• The pros and cons of receiving diagnosis and how to transmute the uncertainty into empowerment

• The role that faith plays in the Carters’ life

• The call to adventure that parenting can provide

And so much more!

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. We love you all!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]