Podcasts about Rett syndrome

In the fourth episode of this series, Dr. Stacey Clardy discusses care team essentials and working within multidisciplinary teams.  Show transcript:  Dr. Stacey Clardy: This is the Neurology Minute. I'm Stacey Clardy from the Salt Lake City VA and the University of Utah. This is our 4th episode in our four-part series on Rett syndrome. Today we're going to discuss care team essentials and working within multidisciplinary teams. Rett syndrome requires coordinated, ongoing, multidisciplinary care across the lifespan. So core team members will often include neurology, genetics, developmental pediatrics, gastroenterology, pulmonology, cardiology, orthopedics, and a range of rehabilitation specialists. Speech language pathology especially plays a central role, particularly through augmentive and alternative communication strategies, given the characteristic profound expressive language limitations in Rett syndrome. Care coordination obviously is essential, and neurologists will usually serve as the central point of integration, helping families navigate the complexities of care systems internationally and anticipating who might need to be brought in at certain times, given evolving needs. And caregiver input is especially critical in Rett syndrome patients because the patients have limited verbal communication. So it's these caregivers who are going to be able to provide key insights into daily neurologic status, behavior, and subtle clinical changes that clinicians may well not be able to detect in periodic short office visits. Another essential component is transition planning, right?  As Rett syndrome patients age, structured transition from pediatric to adult care systems is necessary, essential to maintain continuity and avoid fragmentation. And as in any rare disease, many families find that participation in specialty clinics, and registries, and clinical trials, when available, can provide access to evolving therapies and contribute to ongoing advances in the field. That's it for our Rett syndrome series. Be sure to listen to the three prior Neurology Minute episodes on Rett syndrome for a full overview. I'm Stacey Clardy for the Minute. 

In the third episode of this series, Dr. Stacey Clardy discusses treatment options and ongoing management. Show transcript:  Dr. Stacey Clardy: This is The Neurology Minute. I'm Stacey Clardy from the Salt Lake City VA at the University of Utah. This is the third episode today in our four-part series on Rett syndrome, and we're going to talk about treatment options and ongoing management. There is still no curative therapy for Rett syndrome and management remains largely supportive and multidisciplinary. But there is now an FDA-approved treatment, trofinetide, for adults and children two years of age and older with Rett syndrome. Trofinetide is a synthetic analog of glypromate. It's thought to modulate neuroinflammation and synaptic function, right? Because Rett syndrome involves difficulty with synaptic function. Clinical trials demonstrated improvements in some of the core Rett symptoms, but of course, as always, treatment decisions are going to require an individualized discussion, particularly given some common adverse effects such as diarrhea and vomiting. Beyond disease-specific therapy, management remains symptom driven. Given that epilepsy is common and may be refractory, careful EEG correlations are often necessary. Of course, the breathing abnormalities like hyperventilation and apnea are fairly characteristic and can fluctuate over time so need to be monitored, and gastrointestinal dysfunction, nutritional challenges, other sleep disturbances, and scoliosis require ongoing monitoring and intervention when relevant. Rehabilitation therapies, physical, occupational, and speech, are foundational throughout life. A key principle here is anticipatory management, right? Many of the complications, like cardiac conduction abnormalities and bone health issues, can be identified early and addressed early with better outcomes when Rett syndrome patients have coordinated care. That's it for today. Be sure to listen to the other Neurology Minute episodes in this series on Rett syndrome, and check back for our next and final episode, where we will cover care team essentials and multidisciplinary management. I'm Stacey Clardy for the minute. 

Discover the Rett syndrome clinical breakthroughs of 2025 and beyond. Credit available for this activity expires: 5/28/27 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/rett-syndrome-year-review-what-we-learned-and-beyond-2026a1000gtx?ecd=bdc_podcast_libsyn_mscpedu

In the second episode of a four-part series on Rett syndrome, Dr. Stacey Clardy discusses the importance of early referrals, particularly during the regression phase.  Show transcript:  Dr. Stacey Clardy:  This is the Neurology Minute. I'm Stacey Clardy from the Salt Lake City VA and the University of Utah. This is the second episode in a four-part series on Rett syndrome. Today, let's discuss when to refer and specifically early referral is absolutely critical in Rett syndrome, particularly during the regression phase. Any child, most often a girl with previously acquired developmental milestones who begins to lose language or lose purposeful hand use or develops stereotyped hand movements should prompt urgent neurologic evaluation. This would be referral to pediatric neurology, of course, and this should not wait for genetic confirmation. Early involvement of pediatric neurology allows for diagnostic clarification, anticipatory guidance, and coordination of care across systems. The genetic testing, typically with MECP2 sequencing and deletion or duplication analysis, this should be pursued early and if initial testing is negative but suspicion remains high, expanding that genetic evaluation is warranted. And beyond neurology, early engagement with developmental services, speech, occupational, and physical therapy should start before even a definitive diagnosis is necessarily established. Rett syndrome is a multi-system disorder. So a care team is going to monitor for common comorbidities. This is not just epilepsy, but also gastrointestinal dysfunction, breathing abnormalities, and orthopedic complications. When delayed referrals occur, it's often due to attribution of regression to more common developmental conditions. Be sure to listen to the other Neurology Minute episodes in this series. We'll be back next time for our third episode, and we'll cover treatment options and ongoing management.

In the first episode of a four-part series, Dr. Stacey Clardy discusses the diagnosis and clinical presentation of Rett syndrome.   

Brain aging and neurological disease are hard to study because living human brain tissue is difficult to access. Alysson Muotri, Ph.D., UC San Diego, explains how brain organoids sent to space can model accelerated aging, reveal changes in neural networks, and help test potential treatments for brain disorders. Muotri examines space-induced senescence, fragmented network activity linked to dementia and Alzheimer's patterns, and Rett syndrome findings showing inflammation tied to endogenous retroviruses and response to antiretroviral drugs in preclinical models. He also explores using brain organoids in space to screen neuroprotective compounds, including candidates identified from Amazon plants. This work helps explain how space biology can speed research on autism, Rett syndrome, Alzheimer's disease, and other neurological conditions, and points toward new ways to test therapies on Earth. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41475]

Brain aging and neurological disease are hard to study because living human brain tissue is difficult to access. Alysson Muotri, Ph.D., UC San Diego, explains how brain organoids sent to space can model accelerated aging, reveal changes in neural networks, and help test potential treatments for brain disorders. Muotri examines space-induced senescence, fragmented network activity linked to dementia and Alzheimer's patterns, and Rett syndrome findings showing inflammation tied to endogenous retroviruses and response to antiretroviral drugs in preclinical models. He also explores using brain organoids in space to screen neuroprotective compounds, including candidates identified from Amazon plants. This work helps explain how space biology can speed research on autism, Rett syndrome, Alzheimer's disease, and other neurological conditions, and points toward new ways to test therapies on Earth. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41475]

Brain aging and neurological disease are hard to study because living human brain tissue is difficult to access. Alysson Muotri, Ph.D., UC San Diego, explains how brain organoids sent to space can model accelerated aging, reveal changes in neural networks, and help test potential treatments for brain disorders. Muotri examines space-induced senescence, fragmented network activity linked to dementia and Alzheimer's patterns, and Rett syndrome findings showing inflammation tied to endogenous retroviruses and response to antiretroviral drugs in preclinical models. He also explores using brain organoids in space to screen neuroprotective compounds, including candidates identified from Amazon plants. This work helps explain how space biology can speed research on autism, Rett syndrome, Alzheimer's disease, and other neurological conditions, and points toward new ways to test therapies on Earth. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41475]

Brain aging and neurological disease are hard to study because living human brain tissue is difficult to access. Alysson Muotri, Ph.D., UC San Diego, explains how brain organoids sent to space can model accelerated aging, reveal changes in neural networks, and help test potential treatments for brain disorders. Muotri examines space-induced senescence, fragmented network activity linked to dementia and Alzheimer's patterns, and Rett syndrome findings showing inflammation tied to endogenous retroviruses and response to antiretroviral drugs in preclinical models. He also explores using brain organoids in space to screen neuroprotective compounds, including candidates identified from Amazon plants. This work helps explain how space biology can speed research on autism, Rett syndrome, Alzheimer's disease, and other neurological conditions, and points toward new ways to test therapies on Earth. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41475]

Brain aging and neurological disease are hard to study because living human brain tissue is difficult to access. Alysson Muotri, Ph.D., UC San Diego, explains how brain organoids sent to space can model accelerated aging, reveal changes in neural networks, and help test potential treatments for brain disorders. Muotri examines space-induced senescence, fragmented network activity linked to dementia and Alzheimer's patterns, and Rett syndrome findings showing inflammation tied to endogenous retroviruses and response to antiretroviral drugs in preclinical models. He also explores using brain organoids in space to screen neuroprotective compounds, including candidates identified from Amazon plants. This work helps explain how space biology can speed research on autism, Rett syndrome, Alzheimer's disease, and other neurological conditions, and points toward new ways to test therapies on Earth. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41475]

Brain aging and neurological disease are hard to study because living human brain tissue is difficult to access. Alysson Muotri, Ph.D., UC San Diego, explains how brain organoids sent to space can model accelerated aging, reveal changes in neural networks, and help test potential treatments for brain disorders. Muotri examines space-induced senescence, fragmented network activity linked to dementia and Alzheimer's patterns, and Rett syndrome findings showing inflammation tied to endogenous retroviruses and response to antiretroviral drugs in preclinical models. He also explores using brain organoids in space to screen neuroprotective compounds, including candidates identified from Amazon plants. This work helps explain how space biology can speed research on autism, Rett syndrome, Alzheimer's disease, and other neurological conditions, and points toward new ways to test therapies on Earth. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41475]

Hey Friends~  “We never limit how she communicates—we grow with her in how she communicates.” ~Tamara Tuckson In this episode, a mom and daughter share their journey with AAC (Augmentative and Alternative Communication). Many parents feel unsure or even afraid of AAC, but this conversation gently reveals how it can uncover who a child truly is when their body makes speech difficult. You'll hear real-life communication—including McKenzie voice talking to us with her AAC device—as this family invites us into their world.  You will hear the growth, how low tech and high tech are both used - still.   Enjoy this empowering story that is sure to open your mind—and your heart—to new possibilities.  Always cheering you on!  Dinalynn CONTACT the Host, Dinalynn:  hello@thelanguageofplay.com WEBSITE:  https://www.thelanguageofplay.com/ Have a question or comment? Leave a voice message!  https://castfeedback.com/play PLEASE VOTE!!  We are nominated for Women Podcasters Awards!!   This is a VOTER'S CHOICE AWARD. PLEASE VOTE for THE LANGUAGE OF PLAY in the CATEGORY : LIFESTYLE  PODCASTS https://www.womenpodcasters.com/awards   ABOUT THE GUEST:   Tamara and Mckenzie Tuckson are advocates, two time authors, and the founder of Mission 2 Advocate. Her journey began when her daughter, McKenzie, was diagnosed with Rett Syndrome at age two. What started as fear turned into purpose. Today, McKenzie is a thriving young adult, student leader, varsity cheerleader, and national trailblazer for inclusion—using AAC to advocate for teens with exceptional needs. Together, Tamara and McKenzie share their lived experience to educate, empower, and amplify voices in the disability community, proving that every person belongs and every voice matters. CONTACT THE GUEST:   mission2advocate@gmail.com Mission2advocate.com   Tamara's Business on IG;  #mission2advocate   Facebook:  #mckenziecantalk  IG: #Mckenziespeaks21   YouTube Videos:   https://youtu.be/mv8nSJbml8c?si=0SthwUOlHiEl4-Qs. .https://youtu.be/uZCuurWR2pc?si=OgaTXRDMPh4pCV0G. https://youtu.be/vcqGd6KrwqE?si=wyiLroHEMhWla6pY   IF YOU LIKED THIS EPISODE, YOU WILL WANT TO LISTEN TO THESE EPISODES: 254 When Communication Is Hard: Childhood Apraxia of Speech CAS & Motor Speech Disorders, part 2 257 When Kids Know More Than They Can Say: Expressive & Receptive Language Delays and DLD, part 4 259 When Communication Is Hard: Autism, ADHD, and Language Processing Differences, part 5 262 When Communication Is Hard: Does the Body Need Support? CP, Low Tone, AAC, part 6   WE'VE MADE IT EASY FOR YOU!  Love this podcast?  Let us know!  https://lovethepodcast.com/play Follow & subscribe in 1-click!  https://followthepodcast.com/play To SPONSOR The Language Of Play, schedule your call here:  https://calendly.com/hello-play/discovery-session To DONATE to The Language Of Play, Use this secure payment link: https://app.autobooks.co/pay/the-language-of-play

An investigation's underway following a fire at a café in Strood. Emergency crews were called to the High Street at about 4am and at its height seven fire engines were at the scene along with a height vehicle. Also in today's podcast, drivers have been stuck in gridlocked traffic because of a closure of the Medway Tunnel. There was a power failure overnight which led to long delays through Strood, Gillingham and Chatham. We have the latest on the situation from councillor Alex Paterson. Two of Kent's MPs are calling for a crackdown on catapults being used to hurt animals. Dartford's Jim Dickson has raised the issue in the commons, meantime, Faversham and Mid Kent's Helen Whately has been to visit an animal rescue centre where volunteers deal with wildlife that's been injured. Hear from Mark Henderson from the Columbines Wildlife Care in Teynham near Sittingbourne. Also on the podcast, we've been hearing from the mother of a young girl from Kent who lives with a rare condition that's left her locked in her own body. 11-year-old Poppy has Rett Syndrome, a degenerative disease that's rarely seen in boys but affects one in every ten-thousand girls. And in sport, Sam Northeast says he wants to help Kent secure a move back to the top flight this season. The batsman has rejoined the county after being involved in Glamorgan's promotion from league two last summer. Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.

Rett syndrome is a rare neurodevelopmental disorder that disrupts a child's ability to purposely use their hands, communicate, and move around. It creates a lifelong caregiving burden for families, and there are still no treatments that truly change the course of the disease. Neurogene is developing a one-time gene therapy that has shown promising early results, with children gaining new skills and continuing to make developmental progress over time. We spoke with Rachel McMinn, CEO of Neurogene, about Rett syndrome, the company's technology for controlling gene expression, and the encouraging data they've seen so far.

Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. Today, we delve into a series of insightful updates that highlight the dynamic and rapidly evolving nature of these sectors, driven by scientific advancements, regulatory shifts, and strategic industry maneuvers.Starting with Merck, which is strategically planning for a post-Keytruda era, projecting over $70 billion in annual opportunities over the next decade. With Keytruda's patent expiration looming in 2028, Merck is actively expanding its portfolio through acquisitions and partnerships, focusing on oncology and immunology. These areas have been significantly impacted by Keytruda's success, and Merck's proactive approach aims to sustain growth and innovation beyond its current flagship product. During their 2025 full-year earnings call, CEO Robert Davis emphasized their expansive pipeline, highlighting recent strategic deals as pivotal to Merck's robust pipeline—the broadest it has been in years—signaling long-term growth through diversified therapeutic areas and innovative drug candidates.The U.S. Food and Drug Administration (FDA) is making waves with its regulatory approach to CAR-T cell therapies for autoimmune diseases. This shift reflects an increasing recognition of the potential these therapies hold for transforming treatment paradigms for conditions like lupus and multiple sclerosis. By offering a more flexible regulatory framework, the FDA is encouraging innovation while maintaining a focus on patient safety.In other regulatory news, AstraZeneca faces a setback with the FDA's rejection of its subcutaneous version of Saphnelo for lupus. The decision underscores the challenges associated with developing more patient-friendly administration methods for biologics. However, AstraZeneca remains optimistic about achieving a quick turnaround in the approval process, which could enhance patient adherence by offering a self-administered alternative to intravenous infusions.Sanofi finds itself in the spotlight after CEO Paul Hudson was sanctioned by the UK's Prescription Medicines Code of Practice Authority for making overly ambitious claims about Pfizer's RSV vaccine. This incident illustrates the competitive nature of vaccine procurement and underscores the importance of accurate communication by pharmaceutical leaders.In Massachusetts, Thermo Fisher Scientific is reducing its workforce with the closure of its Franklin site, impacting around 200 employees. This move is part of broader strategic realignments within the industry aimed at optimizing operations and focusing resources on high-growth areas.Acadia Pharmaceuticals faces potential rejection by the European Union for its drug trofinetide intended for Rett syndrome. This highlights ongoing challenges in gaining approval for treatments targeting rare diseases, despite their significant unmet needs.Meanwhile, GSK plans to lay off up to 350 R&D workers across the U.S. and UK as part of efforts to streamline operations and focus on core therapeutic areas. Such layoffs reflect broader industry trends toward consolidation and efficiency amid rising R&D costs.On a more promising note, Pfizer's GLP-1 receptor agonist has demonstrated significant results in a Phase 2b trial for weight loss, validating their substantial investment in this area. The drug's potential to offer competitive weight loss results with monthly dosing positions it as a strong contender in the obesity treatment market. Additionally, Pfizer continues to accelerate its efforts in obesity treatment with promising mid-stage trial results for PF-3944, showing up to a 12.3% weight loss at 28 weeks. This suggests Pfizer is keen on expanding its presence in obesity management through strategic clinical development as competition within this therapeutic area intensifies.The U.S. Department of Health and HumanSupport the show

How does breakthrough brain science become real treatment for patients? In this episode, we sit down with Dr. Daniela Tropea, Associate Professor of Molecular Psychiatry at Trinity College Dublin, to explore how cutting-edge neuroscience research is being translated into life-changing therapies for mental health and neurodevelopmental disorders. As the leader of Trinity's Translational Neuroscience Laboratory, Dr. Tropea has helped reshape our understanding of brain plasticity and growth factors — including her influential work on insulin-like growth factor 1 (IGF-1). Her research directly contributed to the development of Trofinetide, the first FDA-approved treatment for Rett Syndrome, and continues to inspire new therapeutic possibilities for conditions like Fragile X and Phelan-McDermid Syndrome. In this conversation, we dive into: ·       How fundamental neuroscience discoveries turn into real-world treatments. ·       The future of personalized medicine in mental health care. ·       Why mentorship, diversity in research, and public outreach matter for scientific progress. ·       How brain plasticity research could change the way we treat complex disorders. Dr. Tropea is also a celebrated educator and international collaborator, recognized for innovation in teaching and mentorship — and for making complex science accessible to broader communities. Want to explore more of her work? Visit her profile at Trinity College Dublin, review her latest neuroscience publications, or connect with her directly via email: Daniela.Tropea@tcd.ie Episode also available on Apple Podcasts: https://apple.co/38oMlMr 

EPISODE 651 - Mark J Wilson - Full of Beans - A dead professor. A missing student, And a time-traveling detective.Mark is a scientist who works in gene therapy and very foolishly decided he had to write a novel about a time-traveling detective in his spare time.I live in Washington, DC with my wife, Carrie, but I was born and brought up in Reading, England. My favourite place in the world is in the Cotswolds, just down the road from Oxford (where most of Full of Beans is set).I went to college in Canterbury where I studied biochemistry and got a PhD. I have worked in biopharmaceuticals for the last 35 years or so.I'm currently working in gene therapy, helping to develop a much-needed cure for Rett Syndrome.I worked in Nottingham and Cambridge before moving back to Reading (so it can't be all bad, right?). Then I came to America in 2009. It does seem like a drastic move just to get out of Reading again. I lived in North Carolina for 7 years before moving to the DC area.Growing up in Reading gave me a fascination with trains and planes, being as how there wasn't much else there to interest a kid. I loved hanging around at the west end of Platform 5, and when Concorde would fly over. And there was a Model Shop. I loved the Model Shop. And Eames' model train shop.My dad gave me lifelong passions for astronomy, physics, chess, cooking, and model-making. And I love model trains. Over the years, in my spare time, I've also been a watercolor artist and a music producer. I love electronic dance music.Full of Beans is my first published novel and it is dedicated to Carrie and her coffee machine, which would constantly instruct us to “Fill Beans,” whether the hopper was full or empty. Without either of them this book might never have been written. It took over two years to write, on the weekends and holidays, and I learned a lot about writing.I heard they are bringing back Clippy... ‘I see you're writing a novel. Do you need help with that?' I did need help, but instead I have relied on some actually talented hooman-beans for that.The book was an editor's nightmare to work on. We chose British English spellings (like ‘colour') and phrases (such as ‘bugger off') to go with most of the settings and characters. However, we also chose to go with the Chicago Manual of Style for other stuff like punctuation, rather than the Oxford Guide to Style. Sorry Oxford. Please check the CMOS before levelling criticism at the editing; it was a heroic effort. Thanks Kevin and Avery.Feel free, however, to debate the choice to liberally use the Oxford comma. And to jolly-well split some infinitives. And start sentences with conjunctions.If strict British grammar is your passion, rather than a fun read, then hard cheese. It isn't meant to be bloody Shakespeare. I'm sure there'll be a new Booker Prize nominee along any minute now.The artwork was accomplished with help from artlist.io, using its Comic Noir algorithm and many, many attempts, amalgamations, and many hours of editing images to get what I wanted. The book cover was a team effort with Joe and Michelle. https://markjwilson.com/Support the show___https://livingthenextchapter.com/podcast produced by: https://truemediasolutions.ca/Coffee Refills are always appreciated, refill Dave's cup here, and thanks!https://buymeacoffee.com/truemediaca

In this podcast, Louise Cosand discusses her paper 'Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study'.   The paper is available here: https://doi.org/10.1111/dmcn.16482   Follow DMCN on Podbean for more:  https://dmcn.podbean.com/ ___ Watch DMCN Podcasts on YouTube: https://bit.ly/2ONCYiC __ DMCN Journal: Developmental Medicine & Child Neurology (DMCN) has defined the field of paediatric neurology and childhood-onset neurodisability for over 60 years. DMCN disseminates the latest clinical research results globally to enhance the care and improve the lives of disabled children and their families.   DMCN Journal - https://onlinelibrary.wiley.com/journal/14698749 ___ Find us on Twitter! @mackeithpress - https://twitter.com/mackeithpress

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/AAPA information, and to apply for credit, please visit us at PeerView.com/QBS865. CME/AAPA credit will be available until November 9, 2026.Building Clinical Confidence in the Diagnosis and Multidisciplinary Management of Rett Syndrome 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 information is available at the beginning of the video presentation.

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/AAPA information, and to apply for credit, please visit us at PeerView.com/QBS865. CME/AAPA credit will be available until November 9, 2026.Building Clinical Confidence in the Diagnosis and Multidisciplinary Management of Rett Syndrome 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 information is available at the beginning of the video presentation.

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/AAPA information, and to apply for credit, please visit us at PeerView.com/QBS865. CME/AAPA credit will be available until November 9, 2026.Building Clinical Confidence in the Diagnosis and Multidisciplinary Management of Rett Syndrome 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 information is available at the beginning of the video presentation.

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/AAPA information, and to apply for credit, please visit us at PeerView.com/QBS865. CME/AAPA credit will be available until November 9, 2026.Building Clinical Confidence in the Diagnosis and Multidisciplinary Management of Rett Syndrome 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 information is available at the beginning of the video presentation.

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/AAPA information, and to apply for credit, please visit us at PeerView.com/QBS865. CME/AAPA credit will be available until November 9, 2026.Building Clinical Confidence in the Diagnosis and Multidisciplinary Management of Rett Syndrome 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 information is available at the beginning of the video presentation.

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/AAPA information, and to apply for credit, please visit us at PeerView.com/QBS865. CME/AAPA credit will be available until November 9, 2026.Building Clinical Confidence in the Diagnosis and Multidisciplinary Management of Rett Syndrome 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 information is available at the beginning of the video presentation.

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/AAPA information, and to apply for credit, please visit us at PeerView.com/QBS865. CME/AAPA credit will be available until November 9, 2026.Building Clinical Confidence in the Diagnosis and Multidisciplinary Management of Rett Syndrome 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 information is available at the beginning of the video presentation.

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/AAPA information, and to apply for credit, please visit us at PeerView.com/QBS865. CME/AAPA credit will be available until November 9, 2026.Building Clinical Confidence in the Diagnosis and Multidisciplinary Management of Rett Syndrome 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 information is available at the beginning of the video presentation.

Join us in this episode as Dr. Daniela Tropea, Associate Professor of Molecular Psychiatry at Trinity College Dublin, explains how cutting-edge brain research is being transformed into real-world treatments for mental health and neurodevelopmental disorders. Dr. Tropea leads the Translational Neuroscience Laboratory at Trinity, where her research on growth factors and brain plasticity has reshaped our understanding of brain health. Her work on insulin-like growth factor 1 directly contributed to the development of Trofinetide — the first FDA-approved treatment for Rett Syndrome. As she works, she continues to inspire new therapies for conditions like Fragile X and Phelan-McDermid Syndromes… This discussion dives into: How neuroscience research impacts real medical treatments. The future of translational neuroscience and personalized mental health care. Why mentorship, diversity, and public outreach are vital for scientific progress. A renowned educator and global collaborator, Dr. Tropea has received multiple awards for innovation in teaching and mentorship, and is deeply committed to making science accessible. Want to learn more about her intriguing work? Visit her profile at Trinity College Dublin or follow her latest publications in neuroscience.

Bernhard Suter, MD - Rett Syndrome Uncovered: An International Exchange on Recognition, Monitoring, and Emerging Therapies

Bernhard Suter, MD - Rett Syndrome Uncovered: An International Exchange on Recognition, Monitoring, and Emerging Therapies

Episodes 40-52: Highlights features our best moments from the past year, featuring a world-class expert in behavioral economics, an exoneree, a UFC fighter, a voice actor, a homicide detective, and an open-source creator.Episode Summary:This episode of the Simple Questions Podcast brings you the best moments from the last 13 episodes. We've condensed insightful highlights on topics like competitive eating, UFC, and Rett Syndrome.Whether you're a new listener or a loyal fan, this episode offers a perfect snapshot of what our podcast is all about.In this episode we discuss:00:00 - Introduction00:37 - Episode 40: International Rett Syndrome Foundation (IRSF) Family & Community Engagement Manager, Samantha Brant03:17 - Episode 41: Intellectual Property Rights Lawyer, Karin Coger04:44 - Episode 42: Taekwondo Grandmaster, Jinsue Park08:42 - Episode 43: Exoneree, Dr. Marvin Cotton Jr.11:33 - Episode 44: Competitive Eater, George Chiger13:18 - Episode 45: UFC Fighter, Angela “Overkill” Hill14:55 - Episode 46: Psychiatrist, Dr. Tahir Rahman15:54 - Episode 47: Bluetooth & Wireless Expert, Nick Hunn17:32 - Episode 48: Speedcuber, Tommy Cherry18:54 - Episode 49: Homicide Detective, Sgt. Dave Walker20:03 - Episode 50: Voice Actor, Billy West22:07 - Episode 51: Behavioral Economist, Dan Ariely23:35 - Episode 52: Peppermint OS Co-Founder, Shane Remington25:56 - Conclusion & Closing RemarksThis 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.

What happens when a rare disease diagnosis changes everything? When you're told your child will never walk, never talk. On this episode, we learn about Rett Syndrome and sit down with a parent who became his daughter's fiercest champion and a patient advocate committed to giving these families hope. Join us for an inspiring conversation about finding strength, building community, and living life to the fullest.To go behind the scenes and learn more about this episode, visit “Turning Pain Into Purpose: Advocating for Families with Rett Syndrome.”Thanks for listening! We're now on YouTube- follow us here. To receive episode updates and bonus material, subscribe to our mailing list here.

Discover how genetic testing can revolutionize and shorten the diagnostic odyssey and transform care for children with Rett syndrome. Credit available for this activity expires: 6/30/26 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/case-challenges-rett-syndrome-reducing-time-genetic-testing-2025a1000h2y?ecd=bdc_podcast_libsyn_mscpedu

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

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/

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

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 

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: