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MEF2Cast

MEF2Cast
MEF2Cast
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5 of 13
  • Episode 13: The Essentials of MCHS and TSBs with Alain Greige
    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 developmentThe relationship between autism and MCHSTSBs as treatment for MCHS and what that might look likeThe importance of the community’s involvement in researchAnd 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=61572393046749Email us: [email protected]
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  • Episode 12: Interpreting Genetics with Jamie Lundy of Simons Searchlight
    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 chromosomesHow your body reads DNAIntrons vs ExonsThe different kinds of genetic variantsGenotype vs phenotypeGermline mosaicismThe various types of genetic testingAnd 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=61572393046749Email us: [email protected] Simons Searchlight here: 
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  • Episode 11: Resilience and Hope with Richard and Sheila Carter
    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 migrainesRichmond’s daily life nowRichmond’s use of an eye-gaze deviceThe pros and cons of receiving diagnosis and how to transmute the uncertainty into empowermentThe role that faith plays in the Carters’ lifeThe call to adventure that parenting can provideAnd 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=61572393046749Email us: [email protected]
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  • Episode 10: Putting In The Work With Caroline Claflin
    In today’s episode, we are joined by Caroline Claflin, parent to Darwin and co-founder of the MEF2C Family Foundation.Caroline joins us to discuss Darwin’s journey to diagnosis, her adventures in being an MCHS parent, and tips and tricks learned along the way. We also speak about the MEF2C Family Foundation and its role in the community. Some highlights include:The power of a mother’s intuition and how it led her to seek diagnosis The work that people with MCHS put in every dayThe therapies that have been most impactful for DarwinThe importance of independence for children like DarwinThe relationships between special needs and typical siblingsCaroline’s experiences in advocating for resourcesThe personal growth that comes from parenting someone with MCHSWhat Caroline’s hopes for the MEF2C Family Foundation areAnd 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=61572393046749Email us: [email protected]
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  • Episode 9: Spelling to Communicate (S2C) with Sam Fox
    In today’s episode, we are joined by Sam Fox, Spelling to Communicate (S2C) practitioner and owner of Beyond Speech Therapy Center in Munroe Falls, OH.Sam joins us to discuss spelling as a means of communication for non-speaking/unreliably speaking people and the S2C system. Some highlights include:The philosophy and controversy around spelling Who could benefit from spelling to communicateThe challenges of apraxia and how spelling can helpThe relationship between the speller and communication partnersThe importance of presuming competenceThe doors that spelling can open for peopleBooks, movies, and other media telling spellers’ storiesThe eloquence and insight that many spellers havePersonal success stories of clientsAnd much more!Please check out Beyond Speech Therapy Center at the links below:https://www.beyondspeechtherapycenter.com/https://www.facebook.com/BeyondSpeech/Learn more about S2C and find a practitioner in your area here: i-asc.orgSome links to things mentioned during the episode:Underestimated: An Autism Miracle- https://a.co/d/amu8OqXLights in the Darkness- https://a.co/d/4TZmOsuSpellers: The Movie- https://www.youtube.com/watch?v=8h1rcLyznK0The Telepathy Tapes- https://open.spotify.com/show/1zigaPaUWO4G9SiFV0Kf1cIf 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=61572393046749Email us: [email protected]
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About 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
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