Genetic brain disorder
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9 episodes with Rett syndrome
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7 episodes with Rett syndrome
4 episodes with Rett syndrome
4 episodes with Rett syndrome
2 episodes with Rett syndrome
2 episodes with Rett syndrome
What does it look like to take a neuroscience degree far beyond the lab? In this episode, we explore a career path that crosses scientific research, government regulation, and biotech entrepreneurship with Dr. Amanda Wiggins, CEO of The cGP Lab. Amanda began her career investigating neurodegeneration and cortical spreading depression. Over time, her passion for real-world impact led her into public policy—where she helped shape New Zealand's Human Tissue Act and advised on regulations for stem cell research and genetic technologies. Today, she leads a company advancing neuroprotective health supplements based on cyclic Glycine-Proline (cGP), a molecule with growing potential in aging and cognitive health. We talk about: How to navigate transitions between academia, government, and business The challenges of working across disciplines—and how to build confidence in new spaces Lessons learned from leading regulatory change and scaling innovation Amanda's work at The cGP Lab and the science behind cGP's potential in brain health Advice for scientists who want to move into leadership, entrepreneurship, or public engagement This conversation is for anyone considering a non-linear career in neuroscience or wondering how to apply scientific training in new and meaningful ways. Chapters: 00:00:02 - Bridging Neuroscience and Biotech Innovation 00:04:06 - FDA Approval of Trofinetide for Rett Syndrome 00:07:27 - My Journey in Science and Identity 00:09:22 - Pursuing a PhD in Melbourne 00:11:55 - Choosing a PhD Topic 00:17:26 - Challenges and Motivation in PhD Journey 00:20:54 - Transition from Academia to Regulatory Work 00:22:52 - Transitioning from Academia to Policy 00:25:51 - Advising on the Human Tissue Act 00:29:18 - Advocating Biotechnology in New Zealand 00:33:51 - Regulations and Challenges in Biotechnology 00:37:49 - Newborn Blood Screening and Research Ethics 00:41:22 - Transitioning from Science to Biotech 00:46:04 - Challenges of Startup Success 00:48:34 - Journey to Neuroactive Innovation 00:55:23 - Mentorship and Startup Advice 00:58:49 - Dementia Prevention and Early Detection 01:02:03 - Exploring Alzheimer's Research Frontiers 01:06:45 - Advancing Your Neurocareer About the Podcast Guest:
Thank you Jayce Blomquist, OMS III, for developing this podcast topic! Thank you Dr. Gentry Ensign, DPT, OMS III, for being great sidekick!This podcast starts with high yield information about autism spectrum disorder, Rett Syndrome and some question details regarding alcohol/opiate use disorder maintenance treatment vs. withdrawal. The topic then dives into a description of what we are now learning about the microbiota and how it might be leveraged to treat mental health. We enjoyed our discussion and hope you do too!Thank you to the physicians that have blazed the podcast pathway over the last half decade. Thank you to the new students that carry the torch! Thank you to the immortal Jordan Turner for creating the perfect bumper music! Most of all, thank you to everybody that listens in and learns with us.
Brien Gearin is a seasoned entrepreneur, marketing expert, and podcast host. As the founder of Ricochet Digital Marketing, Brien has built a thriving business that generates $82,000 monthly by helping home service providers grow through effective digital marketing strategies. He is also a co-host of the Millionaire University Podcast, which reaches 600,000 listeners monthly. Brien's journey from starting a side hustle to running a successful company is a testament to his entrepreneurial spirit and dedication. In addition to his professional achievements, Brien is a devoted family man with four young children and an advocate for navigating life's challenges with purpose.On this episode we talk about:How Brien transitioned from corporate life to entrepreneurship and grew Ricochet Digital Marketing into a thriving business.The importance of starting small and scaling through side hustles.How hosting podcasts can expand your network and open new business opportunities.Balancing entrepreneurship with parenting, including managing a household with four children (one of whom has Rett Syndrome).Financial strategies for entrepreneurs, including profit-first budgeting and saving for big goals like buying a house.Top 3 TakeawaysStart Small, Think Big: Brien's journey began as a side hustle running Facebook ads for local businesses. With persistence and learning, he scaled it into a full-service digital marketing agency.Leverage Relationships: Hosting podcasts has been instrumental in building connections that lead to both personal growth and business opportunities.Adaptability is Key: Whether managing family life or staying ahead in digital marketing trends, Brien emphasizes the importance of flexibility and focus.Notable Quotes"Done is better than perfect." "Having a podcast—whether you have 12 listeners or 12 million—positions you as an authority." "If I want to give my family the life they deserve, I have to uncap my salary by building my own business." – Brien on his motivation for entrepreneurship.Connect with Brien Gearin:LinkedIn: Brien GearinInstagram: @MillionaireUniversityWebsite: Ricochet Digital MarketingPodcast: Millionaire University PodcastCheck out FranBridge Consulting for premier non-food franchise opportunities: travischappell.com/franbridgeOur Sponsors:* Check out Kinsta: https://kinsta.com* Check out Mint Mobile: https://mintmobile.com/tmf* Check out Sparrow: https://usesparrow.com/travis* Check out Trust & Will: https://trustandwill.com/TRAVISAdvertising Inquiries: https://redcircle.com/brandsPrivacy & Opt-Out: https://redcircle.com/privacy
In this episode of “Moving Medicine Forward” – The Podcast, Jill Black, Validation IT Principal Auditor at CTI, shares the journey of her daughter getting diagnosed with Rett syndrome. This rare genetic neurological and developmental disorder affects the way that the brain develops and is most common in females.
In 2023, Acadia Pharmaceuticals won approval for Daybue, the first and only treatment for the rare, neurodevelopmental disorder Rett syndrome. Daybue is not a cure and Acadia continues to pursue additional therapies for the condition including an antisense oligonucleotide therapy to upregulate a protein people with Rett syndrome lack. We spoke to Liz Thompson, executive vice president and head of research and development for Acadia, about Rett syndrome, how Daybue has changed the treatment landscape for people with the condition, and the company's advancing pipeline to treat it.
It's been a little bit, but we were back Inside the Runners Studio this week with Chris! After years of following each others journeys, we were excited to spend some time chatting with him and getting to know him. Once you finish listening, head over to IG and follow him @clarsen93 and help him reach his fundraising goal supporting Team Evie with Rett Syndrome. To learn more and donate, visit his page at secure.qgiv.com/event/20disneprhalmararweeke/account/1772519 . We're excited to continue getting to know members of the Will Run for Podcast Community in these mini episodes where we put the spotlight on you! To be featured as on a future episode email us at willrunforpodcast@gmail.com
It Happened To Me: A Rare Disease and Medical Challenges Podcast
In this episode of It Happened To Me, we're honored to welcome Sam Ahlstrom, father to Zoey, a remarkable young girl living with Rett syndrome. Sam shares his family's journey from diagnosis to advocacy, offering an inspiring look into how they've transformed challenges into opportunities for connection and innovation. Rett syndrome is a rare neurological disorder that impacts nearly every aspect of life, from mobility to communication. Sam recounts his family's experience navigating this complex condition, from recognizing the early signs to adapting their daily routines. He also discusses the emotional and practical hurdles they faced as parents and how they found strength through community and creativity. Highlights from the Episode: What is Rett syndrome? Sam explains the condition and its impact on individuals like Zoey. The diagnostic journey: How Sam and his wife Sarah discovered Zoey's condition and adapted to the new challenges it brought. Creating connection during isolation: The inspiration behind the pRETTy happy. podcast, which became a lifeline for their family and others during the pandemic. Innovative solutions for complex needs: Sam shares the mission of pRETTy happy. place, the company he and Sarah founded to develop adaptive equipment and toys that bring joy and independence to individuals with complex medical needs. Building a community: Sam reflects on the importance of connection and support for families navigating rare diseases like Rett syndrome. Key Takeaways: The power of resilience: How Sam's family turned challenges into opportunities for advocacy and innovation. The importance of community: Building connections with others who understand the journey can make all the difference. Creativity in action: How pRETTy happy. place is making life easier and more joyful for families like theirs. Resources: Listen to the pRETTy happy podcast Check out pRETTy happy place's shop pRetty happy place's Ep 23 and Ep 24 with Colleen English Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.
Welcome back to The Trend with Justin A. Williams! In this episode, I sit down with Tamara Tuckson, a powerhouse of advocacy and resilience. Tamara is an Academy alumna, a first-place pitch winner, an Academy facilitator, and the CEO and founder of Mission 2 Advocate. But beyond the accolades, her story is one of fierce love, determination, and purpose. Tamara's journey began with a deeply personal challenge: her daughter was diagnosed with Rett syndrome, the most severe form of Autism for females. Doctors painted a grim picture, predicting she wouldn't walk, talk, or have purposeful movements and warning of life-threatening complications. But Tamara and her daughter refused to be defined by those limitations. “We define Rett syndrome—it doesn't define us,” she shares. What started as a fight for her daughter became a mission to empower other families. Tamara transformed fear and vulnerability into strength, mastering the intricacies of Individualized Education Plans (IEPs) and discovering ways to advocate effectively. Through Mission 2 Advocate, she offers compassion, resources, and guidance to parents navigating similar challenges, proving that advocacy can change lives. Join us as we explore her inspiring journey, the lessons she's learned, and her vision for a more inclusive and compassionate world. You won't want to miss this conversation with Tamara Tuckson, a true advocate on a mission. See below for more information on Tamara Tuckson https://cornertocorner.org/entrepreneur_stories/tamara-tuckson/https://enablingdevices.com/blog/mckenzie-can-talk-highlights-the-magic-of-aac-technology/ https://mission2advocate.com/ --- Support this podcast: https://podcasters.spotify.com/pod/show/the-trend-with-justin-a-w/support
GSD Presents: Accelerating Cures for Rett Syndrome with Monica Coenraads Nov. 05, Tuesday #GSDPresents #AcceleratingCures #RettSyndromeAwareness #MedicalInnovation #HealthcareAdvancement #MonicaCoenraads #November5Event #RettSyndromeResearch #HealthcareImpact #SupportRareDiseases
Alex Conyngham - the son of Sir Henry Mountcharles - explains why their winter show ‘Enchanted Kingdom' at Slane Castle was inspired by his young daughter Laragh who has Rett Syndrome https://www.slanecastle.ie/enchanted-kingdom-at-slane-castle/ Rett Syndrome support: https://rettsyndrome.ie/
Welcome to the latest episode of 'On the Couch'. This occasional podcast series of chats with brokers, CEOs, and fund managers aims to give you an insight into the investing world. In this episode, I am talking to Jon Pilcher CEO of Neuren Pharma (NEU).Jon is an old friend, having chatted around 2-year ago about the exciting new drug and deal the company had done with Acadia on its 'Daybue' drug for Rett Syndrome. A lot has happened since then and plenty more to come.2025 is shaping up to be another good year for NEU. Cashed up with leverage to its new drug in trials NNZ 2591. A terrific opportunity to hear this success story first hand. Disclaimer: This is general advice only and you should consult your financial adviser regarding any of the thoughts, ideas or insights in this podcast.
From being born into a family with Kristi already navigating the challenges of Rett syndrome, Kourtney's story is one of dedication, loss, and profound love. Kristi was born in 1965 with a rare neurological disorder that affects primarily girls, which led her to lose many of her early developmental skills between 6 and 18 months old. The disorder wasn't formally diagnosed in the United States until 1986, so for the first 21 years of Kristi's life, the family had no name for what she was living with. Kourtney, the youngest of five, was seven years behind her siblings and grew up with Kristi already in a group home. Kourtney's relationship with Kristi went beyond that of a typical sibling dynamic. She served as her sister, caregiver, and advocate, navigating the complexities of Kristi's condition and her family's evolving needs. Despite the challenges, Kourtney's memories are filled with light moments and profound connections, like when Kristi laughed at a joke no one thought she would understand, signaling that “she's in there,” a realization that challenged every assumption they'd been told about her mental capabilities. The family finally received a formal diagnosis of Rett syndrome when Kristi was 21, after a neurologist encountered a presentation by Dr. Andreas Rett, the doctor who discovered the syndrome. This brought a mixture of relief and frustration, as it came too late to change the course of Kristi's treatment, but finally gave the family a name for what they had been living with for so many years. Kourtney became heavily involved in the Rett community, both as an advocate and later as a professional, dedicating her life to helping other families and teaching children with Rett syndrome how to communicate through eye gaze technology. In this episode, Kourtney shares her journey through anticipatory grief, the lifelong process of caring for a sibling with Rett syndrome, and the unique pain of losing not just a sister, but the person who shaped her identity. She reflects on how her life and career have been deeply intertwined with Kristi's presence, leading her to work in the Rett community as an advocate and teacher. Kourtney's story is a testament to the enduring bonds of sibling love, the complexities of grief, and the resilience it takes to rebuild a life after such a significant loss. In this episode: (00:00:55) – Introduction to Kourtney's Family Dynamic and Kristi's Early Years (00:10:09) – Understanding Rett Syndrome and the Impact on the Family (00:18:34) – The Evolution of Kourtney's Role from Sister to Caregiver (00:36:42) – Kristi's Communication Breakthrough with Eye Gaze Technology (00:46:39) – The Final Years: Health Declines and the Emotional Toll (00:51:41) – Grieving Kristi's Passing and Finding Purpose in Advocacy This Episode is Sponsored by The Surviving Siblings. Connect with Kourtney: TikTok: https://www.tiktok.com/@kbjourney75 Instagram: https://www.instagram.com/kourtney0715/ Facebook: https://www.facebook.com/kourtney.barnum Connect with Maya: Podcast Instagram: @survivingsiblingpodcast Maya's Instagram: @mayaroffler TikTok: https://www.tiktok.com/@survivingsiblingspodcast Twitter: @survivingsibpod Website: Thesurvivingsiblings.com Facebook Group: The Surviving Siblings Podcast YouTube: The Surviving Siblings Podcast Patreon: https://www.patreon.com/TheSurvivingSiblingsPodcast
Monica Coenraads, the mother of a daughter with Rett Syndrome, has played a critical role in catalyzing development of therapies to treat the rare, neurological disease. She co-founded and served as director of research for the Rett Syndrome Research Foundation. She later founded and today serves as CEO of the Rett Syndrome Research Trust. Her work shows how patient organizations can bridge the translational divide and de-risk rare disease drug development for biopharmaceutical companies. We spoke to Coenraads about her experience with Rett syndrome as a mother of a daughter with the condition, how she crafted a scientific agenda for the organizations she founded, and what other rare disease organizations can learn from her experience.
Episode 40 titled "What Is Rett Syndrome?", has International Rett Syndrome Foundation (IRSF) Family & Community Engagement Manager, Samantha Brant, share her and her daughter Macy's story, along with valuable information about the syndrome. Episode Summary: This episode of the Simple Questions Podcast features a discussion with Samantha Brant, a strong mother who helps raise funds and guide other parents through the Rett Syndrome journeys. Listen as Sam shares her and her daughter Macy's inspiring story of handling the challenges of Rett Syndrome. In this episode we discuss: 00:26 - Introducing Samantha Brant 01:36 - Reading Rett 9:05 - Involvement with IRSF 15:54 - What is it? 19:02 - Common Symptoms 23:00 - Atypical vs. Typical 25:48 - Known Causes & Risk Factors 28:46 - Caretaker Challenges 34:06 - Grieving Journey 39:21 - Options for Managing 44:14 - Learning More 48:09 - Conclusions Resources: International Rett Syndrome Foundation Raise a Glass Against Rett This episode includes the track 'RSPN' by Blank & Kytt. The song is used under the Creative Commons Attribution 3.0 Unported License. You can find more of Blank & Kytt's music here.
AJ Tesler, an award-winning producer and director who, along with his wife Jenny, is launching Magnolia's Guide to Adventuring, a new documentary video series created with support from Acadia Pharmaceuticals, inspired by their daughter Magnolia's experience with the rare genetic neurodevelopmental disease Rett syndrome. We're also joined by Dr. Cary Fu, a pediatric neurologist at Vanderbilt University Medical Center, who emphasizes the need for early diagnosis. The video series highlights the adventures children with Rett syndrome can engage in. While Cary emphasizes the importance of safety and consulting with specialists before pursuing an adventure, AJ and Cary encourage people to recognize the capabilities of children with Rett and focus on what they can do. AJ explains, "We made a documentary about that experience and those initial steps that we took called Magnolia's Hope, which is available on iTunes and Amazon streaming, as well as a bunch of other places. And in that documentary, my wife so sagely presents it as we want to make sure that when there's a cure, she'll have stories to tell. That's an inspiring way to think about all of this. Her story does not just have to be about Rett syndrome. It doesn't have to be about all the things that she can't do. It can be about all the things that you can do." "Beyond that, it was also about finding families to come along on these adventures with us. Some of the families are adventurous and have tried these things before. Some of them have never done any of these things before. That was part of the creative vision for the entire thing, which was to show that no matter what your disability is, no matter where on the spectrum you are, as long as a doctor says that it's okay to do these things, then, by all means, there are organizations that can help you do these things." Cary elaborates, "I wouldn't say it's necessarily unusual, but I do think that what AJ and Jenny have done with their family is very inspiring. I think families come in all sorts of shapes and sizes. I think the important thing is I encourage all of my families with Rett syndrome to make sure not to allow the diagnosis to define them. To make sure that whatever expectations they had as a family before the diagnosis was made and before they realized that there would be potential limitations and need to make modifications, they should feel free to pursue those things that they wanted, the hopes that they wanted for their child." #RettSyndrome #MagnoliasGuideToAdventuring" #AdventuringWithMagnolia #RettRevealed #AdaptiveSports #AdaptiveAdventures #RareDisease RettRevealed.com Download the transcript here
AJ Tesler, an award-winning producer and director who, along with his wife Jenny, is launching Magnolia's Guide to Adventuring, a new documentary video series created with support from Acadia Pharmaceuticals, inspired by their daughter Magnolia's experience with the rare genetic neurodevelopmental disease Rett syndrome. We're also joined by Dr. Cary Fu, a pediatric neurologist at Vanderbilt University Medical Center, who emphasizes the need for early diagnosis. The video series highlights the adventures children with Rett syndrome can engage in. While Cary emphasizes the importance of safety and consulting with specialists before pursuing an adventure, AJ and Cary encourage people to recognize the capabilities of children with Rett and focus on what they can do. AJ explains, "We made a documentary about that experience and those initial steps that we took called Magnolia's Hope, which is available on iTunes and Amazon streaming, as well as a bunch of other places. And in that documentary, my wife so sagely presents it as we want to make sure that when there's a cure, she'll have stories to tell. That's an inspiring way to think about all of this. Her story does not just have to be about Rett syndrome. It doesn't have to be about all the things that she can't do. It can be about all the things that you can do." "Beyond that, it was also about finding families to come along on these adventures with us. Some of the families are adventurous and have tried these things before. Some of them have never done any of these things before. That was part of the creative vision for the entire thing, which was to show that no matter what your disability is, no matter where on the spectrum you are, as long as a doctor says that it's okay to do these things, then, by all means, there are organizations that can help you do these things." Cary elaborates, "I wouldn't say it's necessarily unusual, but I do think that what AJ and Jenny have done with their family is very inspiring. I think families come in all sorts of shapes and sizes. I think the important thing is I encourage all of my families with Rett syndrome to make sure not to allow the diagnosis to define them. To make sure that whatever expectations they had as a family before the diagnosis was made and before they realized that there would be potential limitations and need to make modifications, they should feel free to pursue those things that they wanted, the hopes that they wanted for their child." #RettSyndrome #MagnoliasGuideToAdventuring" #AdventuringWithMagnolia #RettRevealed #AdaptiveSports #AdaptiveAdventures #RareDisease RettRevealed.com Listen to the podcast here
The Jungle Ultra is Beyond the Ultimate's 5 day, 230km journey deep into the rainforests of Peru. Runners arrive in the historic city of Cusco, are escorted over the rugged Andes Mountains, and begin their journey in the Manu National Park, one of the most biodiverse areas on the planet. The area is beautiful but the terrain and the climate alone give this event a reputation for arguably being the toughest race on the BTU roster. Stage 4 in particular is notorious as possibly the hardest stage of any BTU race. In this episode, Will catches up with the winner Ben Harrison plus two more Jungle legends in the form of Jemma Harding and Mark Reilly. The trio recount the highlights, the challenges and their tips for success in such extreme environments. Mark was running for Reverse Rett, a charity looking to cure Rett Syndrome, a severe neurological disorder which effects his daughter. Learn more here: https://www.justgiving.com/fundraising/mark-reilly Jemma was running for Rock2Recovery, a charity that supports the armed forces, veteran, those working in the emergency services, and all their families who are affected by stress. Learn more here: https://sportsgiving.co.uk/sponsor/activity/a-5-day-230km-ultra-marathon-through-the-amazon-jungle/jemma-harding Congratulations to Noora Hintsa, the winning Female athlete at Jungle Ultra 2024. Noora was unfortunately ill at the time of recording but we will feature her in a future episode!
In this enlightening episode of Walk and Roll Live - Disability Stories, we delve into the incredible journey of 13-year-old Magnolia ("Maggie"), who lives with Rett syndrome. Despite the challenges, Maggie and her family embark on exciting adventures across the United States, joining others who share their experiences with Rett syndrome. Our special guests include Maggie's father, AJ Tesler, a talented Hollywood producer known for his work with Netflix, and Dr. Cary Fu, a distinguished Neurologist from Vanderbilt University School of Medicine. Together, they will share insights, stories, and the inspiration behind the Rett awareness series created by AJ and Jenny Tesler, generously supported by Acadia Pharmaceuticals Inc. Discover how individuals with Rett syndrome can lead remarkable lives filled with adventure and possibility. Walk and Roll Live Rett Revealed
As part of the 2024 Developmental Disabilities Conference, Dr. Jennifer Martelle Tu is a neurologist with a special interest in movement disorders. She provides a comprehensive update on the care of children and youth with Rett Syndrome, a rare progressive neurological disease. She emphasizes the importance of dedicated multidisciplinary clinics and discusses state of the art treatments, such as the recently FDA approved trofinetide, as well as gene therapy. Series: "Developmental Disabilities Update" [Health and Medicine] [Show ID: 39752]
As part of the 2024 Developmental Disabilities Conference, Dr. Jennifer Martelle Tu is a neurologist with a special interest in movement disorders. She provides a comprehensive update on the care of children and youth with Rett Syndrome, a rare progressive neurological disease. She emphasizes the importance of dedicated multidisciplinary clinics and discusses state of the art treatments, such as the recently FDA approved trofinetide, as well as gene therapy. Series: "Developmental Disabilities Update" [Health and Medicine] [Show ID: 39752]
As part of the 2024 Developmental Disabilities Conference, Dr. Jennifer Martelle Tu is a neurologist with a special interest in movement disorders. She provides a comprehensive update on the care of children and youth with Rett Syndrome, a rare progressive neurological disease. She emphasizes the importance of dedicated multidisciplinary clinics and discusses state of the art treatments, such as the recently FDA approved trofinetide, as well as gene therapy. Series: "Developmental Disabilities Update" [Health and Medicine] [Show ID: 39752]
Hello Brave Friends! This is story episode #178. And it features one of the many powerful stories we showcase in our first ever Brave Together book! It's an anthology of stories shared courageously by our community of moms and it's called Becoming Brave Together: heroic, extraordinary caregiving stories from mothers hidden in plain sight. It is available now and the link to find it is in the show notes, so go get yourself and everybody you know a copy!Today's story is from Claire McMurray whose daughter was diagnosed with a rare genetic disorder called Rett Syndrome. The story she tells is a beautiful articulation of the ache we feel as parents when our not so typical kids struggle to make friends. Welcome to today's story episode: Behind the Window Claire McMurray Ph.D. holds a doctorate from Yale and worked as an academic before she left the workforce to care for her youngest daughter. She has degrees in French and German and lived in both France and Germany. She loves to read, write, run, and hunt for treasures in thrift stores. She runs a blog called I Don't Know How You Do It, has had articles published on parenting sites and in literary magazines, and has won several writing contests for her creative nonfiction.Find Claire's Website with her blog for parents of children with differences, disabilities, and diagnoses here.Find our first book from We Are Brave Together here.Find our Becoming Brave Together book trailer here.Find WABT 5K Fundraiser here. Donate to our Mother's Day Fundraiser here.Brave Together is the podcast for We are Brave Together, a not-for-profit organization based in the USA. The heart of We Are Brave Together is to strengthen, encourage, inspire and validate all moms of children with disabilities and other needs in their unique journeys. JOIN the international community of We Are Brave Together here.Donate to our Retreats and Respite Scholarships here.Donate to keep this podcast going here.Can't get enough of the Brave Together Podcast?Follow our Instagram Page @wearebravetogether or on Facebook.Feel free to contact Jessica Patay via email: jpatay@wearebravetogether.orgIf you have any topic requests or if you would like to share a story, leave us a message here.Please leave a review and rating today! We thank you in advance!Disclaimer
This week, we hear Chris's interview with Meredith Hankins, Morgan Payne, and Susan Lee! Morgan is the mother of an 11 year old girl, Sophie, with Cerebral Palsy who uses AAC. Susan has a daughter, Alyssa, with Rett Syndrome who also uses AAC. Meredith is an AAC Specialist with United Ability in Alabama who works with their daughters and helped to bring them together in new ways! These three share about how the idea for a “Girl Talk” group came up organically in community-based therapy and eventually grew to become a weekend camp at Dolphin Island Sea Lab organized by Susan! Before the interview, Rachel and Chris answer a Patreon user's question about creating a “best buddies” club for general education and special education peers at a high school site! They discuss the importance of setting up an authentic peer interaction, ideas for fun activities that all the students can enjoy, making the project student led, and more! Key Ideas this week:
Robert T. Fremeau, Jr., Ph.D., delves into Rett syndrome, a complex neurological condition. His research with brain organoids unveils its origins and progression. Fremeau uncovers disease markers and innovative treatments, offering insight into the pursuit of breakthrough therapies. Series: "Autism Tree Project Annual Neuroscience Conference" [Health and Medicine] [Science] [Show ID: 39167]
Robert T. Fremeau, Jr., Ph.D., delves into Rett syndrome, a complex neurological condition. His research with brain organoids unveils its origins and progression. Fremeau uncovers disease markers and innovative treatments, offering insight into the pursuit of breakthrough therapies. Series: "Autism Tree Project Annual Neuroscience Conference" [Health and Medicine] [Science] [Show ID: 39167]
Robert T. Fremeau, Jr., Ph.D., delves into Rett syndrome, a complex neurological condition. His research with brain organoids unveils its origins and progression. Fremeau uncovers disease markers and innovative treatments, offering insight into the pursuit of breakthrough therapies. Series: "Autism Tree Project Annual Neuroscience Conference" [Health and Medicine] [Science] [Show ID: 39167]
Robert T. Fremeau, Jr., Ph.D., delves into Rett syndrome, a complex neurological condition. His research with brain organoids unveils its origins and progression. Fremeau uncovers disease markers and innovative treatments, offering insight into the pursuit of breakthrough therapies. Series: "Autism Tree Project Annual Neuroscience Conference" [Health and Medicine] [Science] [Show ID: 39167]
Robert T. Fremeau, Jr., Ph.D., delves into Rett syndrome, a complex neurological condition. His research with brain organoids unveils its origins and progression. Fremeau uncovers disease markers and innovative treatments, offering insight into the pursuit of breakthrough therapies. Series: "Autism Tree Project Annual Neuroscience Conference" [Health and Medicine] [Science] [Show ID: 39167]
PeerView Family Medicine & General Practice CME/CNE/CPE Video Podcast
This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/UDJ865. CME credit will be available until November 20, 2024.Honing Diagnostic and Management Skills: The Role of the Pediatrician in the New Era of Rett Syndrome Management In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an educational grant from ACADIA Pharmaceuticals Inc.Disclosure PolicyAll relevant conflicts of interest have been mitigated prior to the commencement of the activity.Faculty/Planner DisclosuresChair/PlannerEric Marsh, MD, PhD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc. and Stoke Therapeutics.Grant/Research Support from Acadia Pharmaceuticals Inc.; Curaleaf, Inc.; Epygenix Therapeutics, Inc.; Marinus Pharmaceuticals, Inc.; Stoke Therapeutics; and Takeda Pharmaceutical Company Limited.Faculty/PlannerDavid N. Lieberman, MD, PhD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc.; Anavex Life Sciences Corp.; Neurogene Inc.; and Taysha Gene Therapies, Inc.Grant/Research Support from Acadia Pharmaceuticals Inc.; Anavex Life Sciences Corp.; and Jazz Pharmaceuticals, Inc.Planning Committee and Reviewer DisclosuresPlanners, independent reviewers, and staff of PVI, PeerView Institute for Medical Education, do not have any relevant financial relationships related to this CE activity unless listed below.
PeerView Family Medicine & General Practice CME/CNE/CPE Video Podcast
This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/NQQ865. CME credit will be available until November 9, 2024.From Early Recognition to Age- and Stage-Appropriate Care: Navigating a New Era in Rett Syndrome Management In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an educational grant from ACADIA Pharmaceuticals Inc.Disclosure PolicyAll relevant conflicts of interest have been mitigated prior to the commencement of the activity.Faculty/Planner DisclosuresChair/PlannerAlan K. Percy, MD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc.; Neurogene Inc.; and Taysha Gene Therapies, Inc.Grant/Research Support from Acadia Pharmaceuticals Inc.Planning Committee and Reviewer DisclosuresPlanners, independent reviewers, and staff of PVI, PeerView Institute for Medical Education, do not have any relevant financial relationships related to this CE activity unless listed below.
This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/UDJ865. CME credit will be available until November 20, 2024.Honing Diagnostic and Management Skills: The Role of the Pediatrician in the New Era of Rett Syndrome Management In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an educational grant from ACADIA Pharmaceuticals Inc.Disclosure PolicyAll relevant conflicts of interest have been mitigated prior to the commencement of the activity.Faculty/Planner DisclosuresChair/PlannerEric Marsh, MD, PhD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc. and Stoke Therapeutics.Grant/Research Support from Acadia Pharmaceuticals Inc.; Curaleaf, Inc.; Epygenix Therapeutics, Inc.; Marinus Pharmaceuticals, Inc.; Stoke Therapeutics; and Takeda Pharmaceutical Company Limited.Faculty/PlannerDavid N. Lieberman, MD, PhD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc.; Anavex Life Sciences Corp.; Neurogene Inc.; and Taysha Gene Therapies, Inc.Grant/Research Support from Acadia Pharmaceuticals Inc.; Anavex Life Sciences Corp.; and Jazz Pharmaceuticals, Inc.Planning Committee and Reviewer DisclosuresPlanners, independent reviewers, and staff of PVI, PeerView Institute for Medical Education, do not have any relevant financial relationships related to this CE activity unless listed below.
This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/NQQ865. CME credit will be available until November 9, 2024.From Early Recognition to Age- and Stage-Appropriate Care: Navigating a New Era in Rett Syndrome Management In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an educational grant from ACADIA Pharmaceuticals Inc.Disclosure PolicyAll relevant conflicts of interest have been mitigated prior to the commencement of the activity.Faculty/Planner DisclosuresChair/PlannerAlan K. Percy, MD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc.; Neurogene Inc.; and Taysha Gene Therapies, Inc.Grant/Research Support from Acadia Pharmaceuticals Inc.Planning Committee and Reviewer DisclosuresPlanners, independent reviewers, and staff of PVI, PeerView Institute for Medical Education, do not have any relevant financial relationships related to this CE activity unless listed below.
PeerView Neuroscience & Psychiatry CME/CNE/CPE Audio Podcast
This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/NQQ865. CME credit will be available until November 9, 2024.From Early Recognition to Age- and Stage-Appropriate Care: Navigating a New Era in Rett Syndrome Management In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an educational grant from ACADIA Pharmaceuticals Inc.Disclosure PolicyAll relevant conflicts of interest have been mitigated prior to the commencement of the activity.Faculty/Planner DisclosuresChair/PlannerAlan K. Percy, MD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc.; Neurogene Inc.; and Taysha Gene Therapies, Inc.Grant/Research Support from Acadia Pharmaceuticals Inc.Planning Committee and Reviewer DisclosuresPlanners, independent reviewers, and staff of PVI, PeerView Institute for Medical Education, do not have any relevant financial relationships related to this CE activity unless listed below.
PeerView Neuroscience & Psychiatry CME/CNE/CPE Audio Podcast
This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/UDJ865. CME credit will be available until November 20, 2024.Honing Diagnostic and Management Skills: The Role of the Pediatrician in the New Era of Rett Syndrome Management In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an educational grant from ACADIA Pharmaceuticals Inc.Disclosure PolicyAll relevant conflicts of interest have been mitigated prior to the commencement of the activity.Faculty/Planner DisclosuresChair/PlannerEric Marsh, MD, PhD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc. and Stoke Therapeutics.Grant/Research Support from Acadia Pharmaceuticals Inc.; Curaleaf, Inc.; Epygenix Therapeutics, Inc.; Marinus Pharmaceuticals, Inc.; Stoke Therapeutics; and Takeda Pharmaceutical Company Limited.Faculty/PlannerDavid N. Lieberman, MD, PhD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc.; Anavex Life Sciences Corp.; Neurogene Inc.; and Taysha Gene Therapies, Inc.Grant/Research Support from Acadia Pharmaceuticals Inc.; Anavex Life Sciences Corp.; and Jazz Pharmaceuticals, Inc.Planning Committee and Reviewer DisclosuresPlanners, independent reviewers, and staff of PVI, PeerView Institute for Medical Education, do not have any relevant financial relationships related to this CE activity unless listed below.
PeerView Neuroscience & Psychiatry CME/CNE/CPE Video Podcast
This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/UDJ865. CME credit will be available until November 20, 2024.Honing Diagnostic and Management Skills: The Role of the Pediatrician in the New Era of Rett Syndrome Management In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an educational grant from ACADIA Pharmaceuticals Inc.Disclosure PolicyAll relevant conflicts of interest have been mitigated prior to the commencement of the activity.Faculty/Planner DisclosuresChair/PlannerEric Marsh, MD, PhD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc. and Stoke Therapeutics.Grant/Research Support from Acadia Pharmaceuticals Inc.; Curaleaf, Inc.; Epygenix Therapeutics, Inc.; Marinus Pharmaceuticals, Inc.; Stoke Therapeutics; and Takeda Pharmaceutical Company Limited.Faculty/PlannerDavid N. Lieberman, MD, PhD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc.; Anavex Life Sciences Corp.; Neurogene Inc.; and Taysha Gene Therapies, Inc.Grant/Research Support from Acadia Pharmaceuticals Inc.; Anavex Life Sciences Corp.; and Jazz Pharmaceuticals, Inc.Planning Committee and Reviewer DisclosuresPlanners, independent reviewers, and staff of PVI, PeerView Institute for Medical Education, do not have any relevant financial relationships related to this CE activity unless listed below.
This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/NQQ865. CME credit will be available until November 9, 2024.From Early Recognition to Age- and Stage-Appropriate Care: Navigating a New Era in Rett Syndrome Management In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an educational grant from ACADIA Pharmaceuticals Inc.Disclosure PolicyAll relevant conflicts of interest have been mitigated prior to the commencement of the activity.Faculty/Planner DisclosuresChair/PlannerAlan K. Percy, MD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc.; Neurogene Inc.; and Taysha Gene Therapies, Inc.Grant/Research Support from Acadia Pharmaceuticals Inc.Planning Committee and Reviewer DisclosuresPlanners, independent reviewers, and staff of PVI, PeerView Institute for Medical Education, do not have any relevant financial relationships related to this CE activity unless listed below.
This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/UDJ865. CME credit will be available until November 20, 2024.Honing Diagnostic and Management Skills: The Role of the Pediatrician in the New Era of Rett Syndrome Management In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an educational grant from ACADIA Pharmaceuticals Inc.Disclosure PolicyAll relevant conflicts of interest have been mitigated prior to the commencement of the activity.Faculty/Planner DisclosuresChair/PlannerEric Marsh, MD, PhD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc. and Stoke Therapeutics.Grant/Research Support from Acadia Pharmaceuticals Inc.; Curaleaf, Inc.; Epygenix Therapeutics, Inc.; Marinus Pharmaceuticals, Inc.; Stoke Therapeutics; and Takeda Pharmaceutical Company Limited.Faculty/PlannerDavid N. Lieberman, MD, PhD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc.; Anavex Life Sciences Corp.; Neurogene Inc.; and Taysha Gene Therapies, Inc.Grant/Research Support from Acadia Pharmaceuticals Inc.; Anavex Life Sciences Corp.; and Jazz Pharmaceuticals, Inc.Planning Committee and Reviewer DisclosuresPlanners, independent reviewers, and staff of PVI, PeerView Institute for Medical Education, do not have any relevant financial relationships related to this CE activity unless listed below.
PeerView Neuroscience & Psychiatry CME/CNE/CPE Video Podcast
This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME information, and to apply for credit, please visit us at PeerView.com/NQQ865. CME credit will be available until November 9, 2024.From Early Recognition to Age- and Stage-Appropriate Care: Navigating a New Era in Rett Syndrome Management In support of improving patient care, PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an educational grant from ACADIA Pharmaceuticals Inc.Disclosure PolicyAll relevant conflicts of interest have been mitigated prior to the commencement of the activity.Faculty/Planner DisclosuresChair/PlannerAlan K. Percy, MD, has a financial interest/relationship or affiliation in the form of:Consultant and/or Advisor for Acadia Pharmaceuticals Inc.; Neurogene Inc.; and Taysha Gene Therapies, Inc.Grant/Research Support from Acadia Pharmaceuticals Inc.Planning Committee and Reviewer DisclosuresPlanners, independent reviewers, and staff of PVI, PeerView Institute for Medical Education, do not have any relevant financial relationships related to this CE activity unless listed below.
Are you aware of the latest updates for the treatment of Rett syndrome? Drs Lieberman and Standridge discuss. Credit available for this activity expires: 11/14/24 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/998395?ecd=bdc_podcast_libsyn_mscpedu
How should parents be counseled following a diagnosis of Rett syndrome? Credit available for this activity expires: 11/14/24 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/998424?ecd=bdc_podcast_libsyn_mscpedu
In this episode, we review the high-yield topic of Rett Syndrome from the Pediatrics section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets Linkedin: https://www.linkedin.com/company/medbullets
PeerView Family Medicine & General Practice CME/CNE/CPE Video Podcast
Go online to PeerView.com/VWR860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Due to the rarity of Rett syndrome and overlapping symptoms with other, more common neurodevelopmental disorders, diagnosis is challenging and often missed or delayed. With one Rett-targeted therapy recently approved and others in development, clinicians now have the opportunity to offer not merely symptom management but potential clinical improvement. This PeerView case-based activity is designed to improve your ability to recognize, diagnose, and treat patients with Rett syndrome. Each session features a realistic case discussion with expert faculty panelists sharing the evidence that supports clinical decisions for timely diagnosis and early initiation of multidisciplinary management and targeted therapy as appropriate. Upon completion of this activity, participants should be better able to: Apply diagnostic criteria to provide a timely diagnosis of Rett syndrome in patients demonstrating subtle signs and symptoms; Employ evidence-based, age-appropriate care for patients with Rett syndrome in alignment with consensus management guidelines; and Evaluate the evidence surrounding the safety, efficacy, and tolerability of new and emerging therapies for the treatment of Rett syndrome.
PeerView Neuroscience & Psychiatry CME/CNE/CPE Audio Podcast
Go online to PeerView.com/VWR860 to view the activity, download slides and practice aids, and complete the post-test to earn credit. Due to the rarity of Rett syndrome and overlapping symptoms with other, more common neurodevelopmental disorders, diagnosis is challenging and often missed or delayed. With one Rett-targeted therapy recently approved and others in development, clinicians now have the opportunity to offer not merely symptom management but potential clinical improvement. This PeerView case-based activity is designed to improve your ability to recognize, diagnose, and treat patients with Rett syndrome. Each session features a realistic case discussion with expert faculty panelists sharing the evidence that supports clinical decisions for timely diagnosis and early initiation of multidisciplinary management and targeted therapy as appropriate. Upon completion of this activity, participants should be better able to: Apply diagnostic criteria to provide a timely diagnosis of Rett syndrome in patients demonstrating subtle signs and symptoms; Employ evidence-based, age-appropriate care for patients with Rett syndrome in alignment with consensus management guidelines; and Evaluate the evidence surrounding the safety, efficacy, and tolerability of new and emerging therapies for the treatment of Rett syndrome.
Silence is deafening. Freedom is imprisonment. These are the first words that today's guest, Suma, wrote in her journal after her 18-year-old daughter, Shrinidhi died. Although Shrinidhi was never able to walk, talk or even use her hands, the family's home was always bustling with noise and happiness. After Shrinidhi unexpectedly died in her sleep, the silence was indeed, deafening. Since Shrinidhi's diagnosis of Rett syndrome at the age of 2, Suma's life revolved around helping her daughter live her best life. Suma was quite literally her daughter's hands, feet, and voice. When Shrinidhi decided that she wanted to become a published author, it was Suma who sat at her side as her daughter used her eyes on her communication device to write each exact word that she wanted. It might take hours for her to write a single sentence, but the two of them would sit together until it was perfect. Shrinidhi was even able to complete and actually publish her book as well as complete her high school diploma. Her accomplishments became an inspiration for girls with Rett Syndrome around the world. (To buy Shrinidhi's book, Extraordinary Wild Adventures on Amazon, click on link. Since Shrinidhi died several months ago, Suma has struggled to find purpose. There are not more stories to help write, no homework to make sure she completes, no therapies and no doctor's appointments. In a way, Suma, is more 'free' than she has been for 18 years, but as Suma says, that freedom feels like 'imprisonment'. Suma feels lost. Her world was already isolated before her daughter's death, with her address book primarily consisting of doctors, nurses and therapists, but now, without Shrinidhi to care for, they are simply gone. The once small life now feels microscopic. That is her current struggle, to find purpose for her life after losing Shrinidhi. Right now, part of that purpose feels like reaching out to other moms whose medically fragile children have died so that perhaps they can find a bit of purpose together.
In the final installment of the series, we conclude our discourse on the effects of Rett Syndrome on daily life. It is our aim and hope that this series will be helpful to anyone who desires to better understand and serve people with Rett Syndrome and their families. Thank you for listening!Episode Team:Guest - G. Vicky Casillas, Pharm.DHosts - Cameron Casillas (MS4), Dharshan Chandramohan (MS4), Nancy Luong (MS4)Script Writer - Cameron CasillasAudio - Dharshan Chandramohan, Vedhika Reddy (MS3), Cheyenne Canizares (MS3)Producers - Cameron Casillas (MS4), Cheyenne Canizares (MS3), Jude Banihani (MS4), Sydney Cummings (MS4)Director - Vy Han, MD
Once a disease only leading world specialists were aware of twenty-odd years ago, Rett Syndrome has since made its way into standardized medical education. Yet, the reality of the condition extends far beyond what the textbooks can teach. In this episode, Cameron and his mother, Vicky Casillas, speak on their experiences of having a loved one diagnosed with Rett Syndrome. Episode Team:Guest - G. Vicky Casillas, Pharm.DHosts - Cameron Casillas (MS4), Dharshan Chandramohan (MS4), Nancy Luong (MS4)Script Writer - Cameron Casillas (MS4)Audio - Dharshan Chandramohan (MS4), Vedhika Reddy (MS3), Andreana Chen (MS3), Cheyenne Canizares (MS3)Producers - Cameron Casillas (MS4), Cheyenne Canizares (MS3), Jude Banihani (MS4), Sydney Cummings (MS4)Director - Vy Han, MD
In this special three-part series, we discuss Rett Syndrome, a genetic disease that has resulted in the permanently arrested development of untold children till the modern era. Affecting girls predominantly, families have learned to live life with their loved ones suffering under it… but will it always have to be this way? This episode takes a deeper dive into the known pathophysiology of Rett Syndrome, as well as the efforts underway to devise a cure.Episode Team:Guest - G. Vicky Casillas, Pharm.DHosts - Cameron Casillas (MS4)Script Writers - Cameron Casillas (MS4), Skye Lander (MS3)Audio - Dharshan Chandramohan (MS4), Vedhika Reddy (MS3)Producer - Cameron Casillas (MS4), Cheyenne Canizares (MS3), Jude Banihani (MS4), Sydney Cummings (MS4)Director - Vy Han, MDResources:https://reverserett.org/ Rett Syndrome Research Trusthttps://www.rettsyndrome.org/ International Rett Syndrome Foundationhttps://rettsyndromenews.com/experimental-treatments-for-rett-syndrome/ Rett Syndrome Newshttps://www.uptodate.com/contents/rett-syndrome-genetics-clinical-features-and-diagnosis?search=rett%20syndrome&source=search_result&selectedTitle=1~35&usage_type=default&display_rank=1 UpToDatehttps://www.sciencedirect.com/science/article/pii/S0166223615002829 Rett Syndrome: Crossing the Threshold to Clinical Translation
Dr. Mary Barbera and Monica Coenraads explore the potential of gene therapy to transform the lives of individuals with Rett Syndrome and Autism Spectrum Disorder (ASD). Learn about the similarities and differences between Rett Syndrome and autism, emphasizing the specific gene mutation associated with Rett Syndrome. The episode features Monica Coenraads, co-founder of the Rett Syndrome Research Foundation, who shares her personal journey with Rett Syndrome and her insights on gene therapy's promising impact. This educational and inspiring podcast sheds light on the power of gene therapy in offering hope and advancements for those affected by these conditions.
Brooke talks with us today about her daughter Korrie who was diagnosed with a rare disease, Rett Syndrome. Rett Syndrome is a rare genetic mutation affecting the development of the brain. Rett Syndrome is rarely inherited. Brooke tells us about the ups and downs of getting Korrie's diagnosis. She gives us a little insight into their family dynamic and how special Korrie is. This is such an informative and beautiful episode. We hope you enjoy it.
This week, Rachel interviews Dr. Theresa Bartolotta, an SLP who is a parent to Lisa, a young girl with Rett syndrome. Dr. Bartolotta is co-author of the recently published Rett Syndrome Communication Guidelines and serves as consultant on communication to the International Rett Syndrome Foundation (ISRF). Dr. Bartolotta shares about putting together the Rett Syndrome Communication Guidelines, her journey as a parent of a child with Rett, and the IRSF's mission to spread the word about Rett to more SLPs, teachers, and families. Before the interview, Rachel and Chris chat about Chris's GIPHY.com channel, using GIFs to do a deep dive into a client's specific interests, putting together your own collection of GIFs to use in therapy, and more! Key ideas this week:
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