Podcasts about Dravet syndrome

When T.L. McCoy's granddaughter was diagnosed with Dravet Syndrome—a rare, life-threatening seizure disorder—she found a shocking gap: only 3.4% of children's books feature disabled heroes. So she wrote one.In this powerful interview, T.L. reveals:✨ How her granddaughter's journey inspired **Delilah Versus the Ghastly Grim**—a fantasy where seizures become portals to magic✨ Why "invisibility" harms children with disabilities (and how stories heal)✨ The delicate balance of blending real trauma with escapism ✨ Her mission to flood bookshelves with heroes who look like "unseen" kidsDiscover how an ordinary grandmother launched Blue Round Book Group to revolutionize representation—and why her call to action matters for every parent, teacher, and reader. 

In this powerful episode, bestselling author TL McCoy joins Ambassador Elisha to discuss her personal journey as a grandmother to a child with Dravet Syndrome—a rare and often catastrophic seizure disorder.   TL shares the inspiration behind her book, Delilah vs. the Gasly Grimm, written for her granddaughter to help children with special needs feel seen, empowered, and represented in literature.   She opens up about:   • What Dravet Syndrome is and how it affects children   • Why representation in children's books matters more than ever   • How her family's resilience inspired a story that's already making waves on Amazon   • Her hope to bring light, knowledge, and hope to families navigating disability   This episode is a must-listen for parents, educators, authors, special needs advocates, and anyone looking to learn more about inclusive storytelling and turning hardship into healing.   Reach T.L. :  https://www.facebook.com/blueroundbookgroup ... Want to be a guest on WITneSSes? Send Elisha Arowojobe a message on #PodMatch, here: https://www.podmatch.com/member/ambelisha     Elevate your business with Anastasia's expert consulting. Use code Elisha3 for an exclusive offer and transform your business today! https://resurrectionmentor.wixsite.com/so/42PDEPEB8?languageTag=en   Feel like something's missing? Start Living the Magical Life today. Buy Now: https://a.co/d/4sHrFx2     Amb. Elisha just published a transformational workbook, buy now: https://ambelisha.gumroad.com/l/Llaenlap

Writing for the Kids No One Sees with T. L. MccoyA New Voice in Disability-Inclusive FictionToday's guest is T.L. McCoy, author and founder of Blue Round Book Group, LLC. She's here to talk about her upcoming middle-grade fantasy novel, Delilah Versus the Ghastly Grim — a magical and emotional adventure inspired by her real-life granddaughter, who lives with Dravet Syndrome, a rare and life-threatening seizure disorder.A 2019 study by the Cooperative Children's Book Center found that only 3.4% of children's books feature disabled protagonists — something T.L. is on a mission to change through storytelling.Links:https://www.facebook.com/blueroundbookgrouphttps://blueroundbookgroup.com/Support PEG by checking out our Sponsors:Download and use Newsly for free now from www.newsly.me or from the link in the description, and use promo code “GHOST” and receive a 1-month free premium subscription.The best tool for getting podcast guests:https://podmatch.com/signup/phantomelectricghostSubscribe to our Instagram for exclusive content:https://www.instagram.com/expansive_sound_experiments/Subscribe to our YouTube https://youtube.com/@phantomelectricghost?si=rEyT56WQvDsAoRprRSShttps://anchor.fm/s/3b31908/podcast/rssSubstackhttps://substack.com/@phantomelectricghost?utm_source=edit-profile-page

In this heartfelt episode of The Black Country Blokes, we shine a spotlight on Dravet Syndrome, a rare and life-threatening form of epilepsy that affects children from infancy. Host Lee Cadman opens up about his personal motivation to take on the Every Day in May Challenge—a daily commitment to raise money and awareness for Dravet Syndrome UK, inspired by the incredible journey of a young warrior: Calla-Rose.Lee shares why this cause is so close to his heart, what the challenge involves, and how you can get involved to help make a real difference. Whether you're a parent, carer, advocate, or just someone who wants to help, this episode will inspire you to take action and support families living with the daily realities of rare diseases.

In this deeply personal episode, I'm sharing the eight principles that helped me go from $304,000 in debt to a self-made millionaire by 30—and how those same principles are now fueling my fight for something far bigger: my daughter's health.   You'll hear the raw truth about what financial freedom really feels like when you're also battling a life-threatening condition like Dravet Syndrome. I'll walk you through the mindset, systems, and decision-making tools I've used for over a decade—tools that don't just apply to money, but to health, family, fitness, and faith.   Whether you're trying to fix your finances or rebuild your life after a crisis, these eight principles will give you a real-world, repeatable playbook for success. This one's for anyone who feels stuck, overwhelmed, or unsure where to begin.   Key Talking Points of the Episode   00:00 Introduction 01:05 Living with Dravet Syndrome and the cost of true freedom 03:15 Financial freedom ≠ problem-free life 05:20 The Eight Principles of Success 07:51 Principle 1: Work hard—but work smart with systems 10:29 Principle 2: Set realistic timeframes for results (especially in health + money) 12:23 Principle 3: Consistency wins 13:23 Principle 4: Remove friction and make success easier with automation 14:40 Principle 5: Be proactive. Ask, research, and lead your own journey 16:37 Principle 6: Don't wait for the “right time”, there isn't one 17:38 Principle 7: Invest in yourself and seek education constantly 19:30 Principle 8: Apply it all and then give back 20:31 Why mastering every area of life matters   Quotables   “Just because you have money doesn't mean your problems go away.”   “Don't wait for life to happen—go make life happen. Be the general contractor of your own success.”   “Consistency and systems win every time, in money, health, relationships—everything.”   Links   Budgetdog https://budgetdog.com  

Gene therapies take center stage in this week's episode. We discuss a potential gene replacement therapy for people with Dravet Syndrome that scientists have tested in mice with good results and highlight some recent progress from two editing companies. We also break down the recent news from Sarepta about the death of a patient after treatment with its gene therapy for Duchenne muscular dystrophy. In other stories, new data reveals a nonviral method for introducing transgenes into human primates and AstraZeneca steps up R&D in China with new drug, vaccine, and healthcare partnerships in the billions of dollars.Join GEN editors Corinna Singleman, PhD, Alex Philippidis, Julianna LeMieux, PhD, and Uduak Thomas for a discussion of the latest biotech and biopharma news. Listed below are links to the GEN stories referenced in this episode of Touching BaseGene Therapy Tested in Mice Offers New Hope for People with Dravet Syndrome By Uduak Thomas, GEN, March 19, 2025 DMD Patient Dies After Treatment with Sarepta Gene TherapyBy Alex Philippidis, GEN Edge, March 18, 2025 PiggyBac Transposon System Creates Transgenic Cynomolgus MonkeysBy Julianna LeMieux, PhD, GEN, March 26, 2025 From Tools to Trials: Editing Therapy Companies Pivot to DevelopmentBy Alex Philippidis, PhD, GEN Edge, March 20, 2025 AstraZeneca Commits up to $11B+ to Chinese Collaborations, Beijing R&D Hub By Alex Philippidis, PhD, GEN Edge, March 21, 2025 Hosted on Acast. See acast.com/privacy for more information.

Send us a textThis week's episode is with Mary Anne Meskis, a founding member and the Executive Director of the Dravet Syndrome Foundation (DSF)—a nonprofit dedicated to raising awareness, providing support, and funding research for Dravet syndrome.Dravet syndrome is a rare and severe form of epilepsy that begins in early childhood, typically caused by a mutation in the SCN1A gene. It leads to frequent and prolonged seizures, developmental delays, and other lifelong challenges, including changes in appetite, mobility, sleep, and growth. While anti-seizure medications are used to manage symptoms, seizure control remains a significant challenge, which we dive into in this episode.Mary Anne and I discuss the critical gap in Dravet syndrome research and how DSF bridges it by increasing research funding and supporting initiatives like the Dravet Genome Study. She also shares how her team simplifies complex scientific information to make it more accessible to families and the broader community. Additionally, we explore DSF's new legislative advocacy program and her vision for the organization's future.Make sure to subscribe to The Neurological Disorder Podcast on Spotify, Apple Podcasts, or wherever you listen to your podcasts!Follow me on Instagram: @neurologicaldisorderpodcastEmail me at: neurologicaldisorderpodcast@gmail.comDSF Instagram: @dravetsyndromefoundationHelpful resources:https://dravetfoundation.org/https://www.ninds.nih.gov/health-information/disorders/dravet-syndrome

Today we are continuing our discussion on gene therapy, with Dr Rajvinder Karda, hosted by Olivia. Raj is both a researcher and professor at the UCL Institute for Women's Health, with her role as an associate professor of Gene Therapy, as well as leading a team of research focussing on developing pre-clinical gene therapy and RNA editing treatments for childhood epilepsy, including Dravet Syndrome. Listen in to learn more about Raj's work in the field of gene therapy, as she explains more about how gene therapies are being researched and developed for pre-clinical trials, including in her lab where her team is working on the development of gene therapies for treating Dravet Syndrome. Date of episode recording: 2025-01-22T00:00:00Z Duration: 00:30:16 Language of episode: English Presenter:Olivia Moir Guests: Dr Rajvinder Karda Producer: Olivia, UCL Institute for Women's Health, UCL Faculty of Population Health Sciences

This week, I'm diving into a question that so many of us have asked: “Where do I start financially?” Whether you're overwhelmed by information, held back by fear, or unsure where to begin, I've got you covered. In this episode, I lay out the essential first steps to take control of your finances, from setting up foundational documents to understanding how to track, grow, and protect your money. Plus, I share practical advice on building financial literacy, staying patient, and managing emotions around money—key components to long-term success. Grab a notebook because this one is packed with actionable steps to jumpstart your journey to financial freedom!   Timeline of Key Moments: [0:00] - Introduction [0:14] - The big question: Where do I start financially? [2:22] - Why breathing and managing emotions are the first steps to financial clarity. [7:10] - The three critical documents you need to track your financial progress. [10:15] - Free vs. paid financial education: Understanding the value of investing in yourself. [13:45] - Why patience is essential in your financial journey and how it reduces stress. [17:07] - Breaking down the “Track, Grow, Protect” framework for managing money. [20:00] - Building a financial system: How to link your goals, budget, and investments. [24:10] - The importance of estate planning, tax strategies, and protecting your financial future.   Links & Resources: • Free financial tools and templates: https://budgetdogtemplate.com/bonus-training  https://docs.google.com/spreadsheets/d/1rX4-EsIvUmx6cLVp7NG_JR-hD1e72-Ad/edit?usp=sharing&ouid=114928106753728252238&rtpof=true&sd=true • Join the Budgetdog Academy: https://budgetdog.com/ • Donate to Dravet Syndrome research: https://dravetfoundation.org/donate/   Closing Remark: Thanks for tuning in! If you're ready to take bold steps toward your financial goals, don't just listen—take action today. If you found this episode helpful, share it with someone who needs a financial boost and subscribe so you never miss a tip. See you next week, and let's keep mastering our money together!

In this raw and deeply personal episode, I take you into the chaos of our current life—a home filled with mold and mycotoxins, a battle for my daughter Logan's health, and the unyielding determination it takes to keep moving forward. From navigating her rare condition, Dravet Syndrome, to uncovering the hidden dangers in our environment, we've faced challenges that test us daily. Through these trials, we've learned that giving up is the only way to truly lose.   Join me as I share the incredible miracles we've experienced, like finding groundbreaking care at Infinity Functional Neurology, and how unexpected connections and perseverance are shaping our journey. Whether you're facing health, financial, or personal obstacles, this episode is a reminder that your strength and faith can lead you through anything.   Timeline Summary: [0:00] - Introduction [0:27] - Setting the stage: A messy, mold-infested home and a battle to stay hopeful. [1:08] - Logan's health journey: From 22 seizures in 2022 to a brief, hopeful respite in 2023. [2:28] - Discovering the problem: Mycotoxins in our new home and their devastating impact. [4:02] - Finding hope: A life-changing trip to Infinity Functional Neurology in Iowa. [7:00] - Miracles unfold: A nutritionist's dream, Logan's incredible progress, and newfound optimism. [10:57] - Celebrating milestones: Logan's newfound energy, confidence, and joy at the park. [17:10] - The cost of perseverance: Financial sacrifices, emotional resilience, and unwavering focus. [20:47] - A powerful reminder: Why giving up is the only way to lose. Links & Resources: https://bookwithbudgetdog.com/ped https://www.iowainfinity.com/ Closing: If this episode resonated with you, please share it with someone who might need encouragement. Don't forget to subscribe, leave a review, and stay connected for more inspiring stories and practical insights. Until next time, remember: You only lose if you give up.

2024 DSF Biennial Family & Professional Conference June 20th to June 22nd. This three-day gathering united all those committed to improving the lives of individuals with Dravet syndrome – including families, caregivers, clinicians, researchers, and biopharmaceutical professionals. It provided a platform for fostering new relationships and collaborations among families and professionals alike. Recorded sessions from the conference can be accessed on demand by both virtual and in-person registrants through December 31, 2024.  conference@dravetfoundation.org

What is Dravet Syndrome? Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare form of intractable epilepsy that begins in infancy and proceeds with accumulating morbidity that significantly impacts individuals throughout their lifetime. It has an estimated incidence rate of 1:15,700 Enter the Dravet Syndrome Foundation (DSF). DSF is a nonprofit organization that acts as a convener of the Dravet syndrome community.  Since their founding in 2009, they have engaged and educated all of their community stakeholders – patient families, clinicians, researchers, industry partners, and others – to envision and fight for better treatments, and one day a cure for Dravet syndrome. They believe that efforts to improve the quality of life for those affected by Dravet syndrome must include the patient's voice and experience to help guide outcomes. DSF is proud to be the largest non-governmental funder of Dravet syndrome research, worldwide. DSF's steadfast commitment to advancing Dravet syndrome research, as well as our community's engagement throughout the clinical trial and drug development process, has helped enable three new treatments for the disease, with several additional clinical trials already underway or soon starting. We have made incredible progress, including the approvals by the U.S. Food and Drug Administration (FDA) of Diacomit® (stiripentol) Epidolex® (cannabidiol), and Fintepla® (fenfluramine). Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare form of intractable epilepsy that begins in infancy and proceeds with accumulating morbidity that significantly impacts individuals throughout their lifetime. It has an estimated incidence rate of 1:15,700. Connect to learn more: Website: https://dravetfoundation.org/ Facebook: @DravetSyndromeFoundation X: @curedravet IG: @dravetsyndromefoundation Email: info@dravetfoundation.org Phone: (203) 392-1955 For more information about Eric Jorgensen you can find him here: Web: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://visiblenationaltrust.com/⁠⁠⁠⁠ Waypoints: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://waypoints.substack.com/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ LinkedIn: ⁠⁠⁠⁠https://www.linkedin.com/in/eric-jorgensen-visible-national-trust/⁠⁠⁠ --- Support this podcast: https://podcasters.spotify.com/pod/show/abcs-disability-planning/support

Find out about a new epilepsy discovery; how the microRNA-335 molecule impacts people with both Dravet Syndrome and Temporal Lobe Epilepsy, and what this could mean for research going forward! All with post-doc researcher Mona Heiland! ------------------------------------------

In this episode, Tom Ackerman shares his NFL picks for the week, covering key matchups such as Atlanta vs. Seattle, Buffalo vs. Cleveland, and more. The show also highlights the incredible fundraising success of the Dravet Syndrome Foundation, raising over $2 million for research. Lutz Pfannenstiel from STL City SC reflects on the season, and Polo Ascencio provides insights on the MLB playoffs and the upcoming Dodgers-Mets NLCS. Bernie Miklasz and Tom also discuss college football, particularly Indiana's and Mizzou's thrilling games.

Join Tom Ackerman as he dives into his latest NFL picks, sharing his top selections for the week and reflecting on his impressive 10-2-1 record against the spread. Tom welcomes Jim Brennan, president of McKelvey Homes, to discuss the upcoming Dance for Dravet event and its significance in raising awareness and funds for Dravet Syndrome. Join Tom Ackerman for an engaging episode filled with NFL picks and reflections on the St. Louis sports scene. Tom shares his latest selections for the NFL week, boasting a stellar record of 10-2-1 against the spread. He welcomes Jim Brennan, president of McKelvey Homes, who emphasizes the critical role of community support in raising awareness and funds for Dravet Syndrome through the upcoming Dance for Dravet event. Jim highlights the positive impact of such events on the community and the importance of participation. Later in the episode, Lutz Pfannenstiel, sporting director of STL City SC, calls in to discuss the 2024 season. Lutz reflects on the season's challenges, particularly the number of draws and injuries, while stressing the importance of the upcoming transfer window for team improvement. He shares insights on individual player evaluations, emphasizing trust in the current roster while acknowledging the need for potential changes to enhance performance. Lutz also encourages fans to support City 2 in their playoff game, reinforcing the importance of community engagement in shaping the future of STL City SC. He concludes by thanking the fans for their unwavering support and participation.

In this powerful episode of The Black Country Blokes, hosts Lee and Kev talk about World Suicide Prevention Day, observed every year on September 10th, to raise awareness and provide support for those struggling with mental health. We also share an incredible journey as Lee and his son Alfie take on the world's fastest zip line—100mph on a 1.5km stretch—to raise money for Dravet Syndrome UK, a cause close to Lee's heart, as his daughter Calla-Rose lives with the condition. Join us as we discuss mental health, awareness, and overcoming challenges. Please consider supporting Lee's zip line challenge by donating to Dravet Syndrome UK through the link below!Sponsor us here: Donate to Dravet Syndrome UK#SuicidePreventionDay #MentalHealthAwareness #BlackCountryBlokes #DravetSyndrome #CharityChallenge #ZipLineChallenge #100mphZipLine #SupportDravet #FamilyStrength #WorldSuicidePreventionDay #PodcastEpisode #MentalHealthMatters #DonateForACauseSupport this show http://supporter.acast.com/bcb. Hosted on Acast. See acast.com/privacy for more information.

01 Jul 2024. We meet Gulshan, an advocate for people of determination and a mum of a lady with Dravet Syndrome; with her are Emirati artist Abdulla Lufti, a person with autism and computer engineer Zahra Khumri, who has a form of dwarfismAs a follow up on the story about solo and single parenting, we're joined by Katie Rees who decided to give birth in the UAE as a single woman.If you're torn between buying off-plan and a ready property, Haus & Haus' Rennie Sanger has the answer.And Kashwani Law's Jazmine Bernard answers all your property legal questions. See omnystudio.com/listener for privacy information.

For 13 years, developers committed to accessibility have been celebrated in the Applevis hall of Fame. Tech Expert Mike Feir tells us about the tradition and this year's honoured apps. Theatre Terrific is a production company that prides themselves on being radically inclusive in the diverse range of their programming. We learn more about the troupe with Artistic Director Laen Herschler. Following the death of an Ontario student with Dravet Syndrome, advocacy groups are calling for better supports and accountability around supervision for students with disabilities. Laura Bain has that story on The Buzz. Chef Mary Mammoliti gives us her perfect summer picnic guide with ideas for quick and delicious snacks, plus tips for an easy and comfortable outing! To promote cultural exchange and sustainable tourism, the International Greeter Association offers free guided tours in over 150 cities worldwide. AMI Producer Laura Bain shares some stories about her travels and experiences with the service. AMI Communications Specialist Greg David offers his take on some notable news issues on our weekly Thursday Roundtable.

In this episode, Greg is joined by a fellow parent of a child with epilepsy, and that parent just so happens to be the incredibly talented and incredibly funny actress Lake Bell! Lake's daughter Nova was diagnosed with epilepsy at just five years old due to a genetic mutation commonly associated with Dravet Syndrome, a rare form of epilepsy. Greg and Lake talk about re-framing the condition to her daughter so that it is positive, taking away guilt or anxiety when she has a seizure. She has created a scenario in which after Nova has a seizure, she thinks of it as "sparkling" and is very brave and smart, like Joan of Arc who  is featured in the Frozen movie that her daughter loves and who also had epilepsy.   Lake is currently working on two projects that center around epilepsy - a book about the brain that she is announcing on this episode, and the feature film "Under the Lights" expanded from the short film written and directed by guest of the show Miles Levin and starring Greg, himself! What a small world it is in this community! The Talk About It podcast is sponsored by Seizures Are Signs — dedicated to educating families on the importance of early and specific diagnosis by providing an assessment to help get the conversation started, educational information, stories from families who have found a diagnosis, links to advocacy groups, and more. For more information, go to SeizuresAreSigns.com. Seizures are Signs is made available by Jazz Pharmaceuticals.

This week represents one decade since the seven Stanley brothers helped launch the CBD industry from Colorado. Per proclamation by Governor Jared Polisin 2020, following the unfortunate passing of Charlotte Figi, April 7th is officially 'Charlotte Figi Day' in Colorado. .Charlotte's Web Inc., the market leader in CBD products, today unveils its "Charlotte Figi Family Grant Program" as an annual initiative to honor the historic legacy of Charlotte, the little girl who suffered from seizures due to Dravet Syndrome, and her story that helped to change CBD access for millions around the world.   Lori speaks with Charlotte's mother, Paige Figi, about her extaordinary journey.

Hello Brave Friends! In this story episode, #172, we enter the world of a parent living on unstable ground. An emotional state riddled with fault lines, shifting plates and the possibility that even a fun outing could cause an earthquake of a seizure in her child's body.Erin Rusling's daughter was born with Dravet Syndrome, a rare and severe form of Epilepsy that causes prolonged seizures. Almost two, at the time of this story, Erin's daughter had already had many seizures and had come out of them with minimal measures, but the BIG ONE was never impossible and always lurking. Welcome to today's story episode: Walking on Eggshells with Epilepsy.Erin is a wife, mom of 2 human children and 3 fur children. She loves making pancakes on Sunday mornings, planning family vacations and listening to true crime podcasts. She stays busy balancing work, family, Dravet medical research and looking for her cold cup of coffee that she knows is around here somewhere. She believes that research and advocacy is the most important part of being a rare parent.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. Find our first book from We Are Brave Together coming May 1st here.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

The government is to defer legislation to decriminalise small amounts of drugs for personal use for nine months. People Before Profit's bill would allow the possession of up to 7 grams of cannabis and up to 2-and-a-half grams of cannabis resin without prosecution. The party has claimed the government is "kicking the can down the road", adding that it won't be resolved before the next general election. Alan Morrissey spoke with Vera Twomey who campaigned about medicinal cannabis. Vera spent years fighting a lengthy, but ultimately successful campaign, to obtain medicinal cannabis for her 13 year-old daughter, Ava. Ava, who was experiencing catastrophic and potentially life ending seizures prior to using medicinal cannabis, passed away in May of last year, following a lifelong battle with a rare form of epilepsy called Dravet Syndrome. To discuss this further, Alan also spoke with Micheal Guerin, an Addiction counsellor at Cuan Mhuire, Bruree. Picture (c) Getty Images via Canva

When is the best time to use newer therapies, and what kind of adjustments do we need to make?    Credit available for this activity expires: 1/24/2025 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/999797?ecd=bdc_podcast_libsyn_mscpedu

Rebbetzin Tali Wohlgelernter, and her husband, Rabbi Tzvi Wohlgelernter, are the directors of Mizrachi OU JLIC in Givat Shmuel and Bar Ilan. In this very candid interview, Rebbetzin Tali shares her personal story about raising a daughter with Dravet Syndrome (a severe form of epilepsy with seizures that are long and unpredictable.) Rebbetzin Tali shares how her daughter, Sarena's, illness impacted hers, her husband, and her three other daughters. She also talks about her faith in Hashem (G-d) and how that is helping her get through her life being as human as possible, with good days and bad days, just like everyone else. Rebbetzin Tali speaks about how Sarena's illness united her entire family--not just her immediate family, but her extended family as well. She also talks about the best things to do (and not to do) when we reach out to families who are struggling with caring for a special needs child. Three nuggets of wisdom and empowerment that we can take away from today's conversation are: 1. Ask for help--reach out to a friend to go out for coffee (or invite her to come over for coffee or to keep you company); if you need help making meals, ask for help; if you need help taking care of your other kids, ask for it; don't be afraid to reach out and ask for help. 2. Don't lie to yourself. Take some time for yourself and be really honest about your situation. 3. Read the book, Living in the Presence; A Jewish Mindfulness Guide for Everyday Life by Benjamin Epstein. This book will help you to live in the moment without worrying about the past or the future. Being in the moment will help you get through your day. If you would like to contact Rebbetzin Tali, she can be reached at: ttw613@gmail.com She also wrote a blog earlier on in Sarena's journey. If you would like to read about her story, please visit www.talismidnightmusings.com --- Send in a voice message: https://podcasters.spotify.com/pod/show/vera-kessler/message

Dravet syndrome is a rare, severe epilepsy caused by changes in a gene called SCN1A. The changes cause the gene to stop functioning normally. But not everyone with this type of genetic change develops Dravet syndrome, and people with Dravet also have a wide range of clinical characteristics, which can't be fully explained by these changes. What else is going on? We spoke with Dr. Sanjay Sisodiya about a recent publication on genomic influences in Dravet syndrome.This episode is based on a recent publication in the journal Brain:Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic' conditionDravet syndrome is a rare severe epilepsy typically caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, Dravet syndrome also has phenotypic heterogeneity, which cannot be explained by clinical factors or SCN1A variants. This relatively small study (34 adults) found that additional genomic variation contributes to the diversity of phenotypes found in Dravet syndromes. The authors suggest that the SCN1A variant may need to act against a "broadly compromised genomic background" to generate the full Dravet syndrome phenotype, and that genomic resilience may contribute to a reduction in mortality risk among adults with Dravet syndrome.   The International League Against Epilepsy invites you to explore the ILAE Academy: Interactive, practice based online courses for health care professionals who diagnose and treat epilepsy. Find more information at ilae-academy.org. Support the showSharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.The International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Twitter, and Instagram.

President of McKelvey Homes Jim Brennan joins Tom and Megan in studio talking third and fourth quarter plans plus an update on charity money raised for Dravet Syndrome.

The latest episode of the DDW Highlights podcast is now available to listen to below. DDW's Megan Thomas narrates five key stories of the week to keep DDW subscribers up-to-date on the latest industry updates.  It was recently Clinical Trials Day and DDW have reported on the launch of a number of new Phase I trials. In-human studies have been initiated to test treatments for Parkinson's disease, radioactive contamination, Dravet Syndrome, influenza and inflammatory diseases. You can listen below, or find The Drug Discovery World Podcast on Spotify, Google Play and Apple Podcasts. 

CME credits: 0.50 Valid until: 17-04-2024 Claim your CME credit at https://reachmd.com/programs/cme/special-report-management-considerations-and-unmet-needs-in-lgs-and-dravet-syndrome/15112/ Lennox-Gastaut syndrome and Dravet syndrome are 2 rare epileptic disorders with a pediatric onset. They‘re often refractory to therapy and have significant side effects due to polytherapy. Listen in as Drs. Nilika Singhal, Elizabeth Thiele, and M. Scott Perry discuss treatment options and how you can lessen the impact of polypharmacy on your patients.=

This week represents one decade since the seven Stanley brothers helped launch the CBD industry from Colorado. Per proclamation by Governor Jared Polis in 2020, following the unfortunate passing of Charlotte Figi, April 7th is officially 'Charlotte Figi Day' in Colorado. Charlotte's Web Inc., the market leader in CBD products, today unveils its "Charlotte Figi Family Grant Program" as an annual initiative to honor the historic legacy of Charlotte, the little girl who suffered from seizures due to Dravet Syndrome, and her story that helped to change CBD access for millions around the world.  Lori speaks with Charlotte's mother, Paige Figi, about her extaordinary journey. To keep up with the latest in the produce industry, be sure to follow The Produce Moms on all of your favorite platforms, including our blog, Facebook, Instagram, and TikTok accounts. You can also watch The Produce Moms Podcast here.

Della Kilroy reports

Joey's Song is an annual benefit concert that raises money and awareness for epilepsy research and program services for children with special needs. Mike Gomoll started Joey's Song in 2010 following the death of his four-year-old son Joey who suffered from Dravet Syndrome. Each year Mike brings musicians to Madison, Wisconsin to rock out and raise money for a great cause. On this special episode of the Cripescast, Charlie interviews a handful of artists who performed at this year's concert including John Gourley, Eric Hook, and Kyle O'Quinn from Portugal. The Man, Dave Pirner from Soul Asylum, Chris Collingwood from Fountains of Wayne and Miles Nielsen from Miles Nielsen and the Rusted Hearts.   For more information about Joey's Song head to joeyssong.org to see the outstanding work they're doing and how you can attend the benefit next January! 

ONCE UPON A GENE - EPISODE 174 A Rare Collection - To the Moon and Back There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Nicole Wright After many seizures, McCall was diagnosed with Dravet Syndrome. Since her diagnosis, her symptoms, seizures and developmental delays have worsened and multiple hospitalizations led to long recoveries. We have grieved McCall's initial diagnosis and we try to allow ourselves room to grieve the life we had envisioned for McCall. She can't enjoy simple things like school and gatherings. We will love and celebrate her no matter what, but we can see pieces of her fade without return. We will never stop fighting to get those pieces back through therapy and eventual life-changing treatments we know will come. Kevin Alexander Until I produced a documentary called My PKU Life, I was completely cut off from the PKU and rare disease communities. I was isolated. I knew no one like me and few people understood the challenges I faced. When I engaged with the community, a new world opened up to me. Life was different than before, and I knew it would never be the same after. It's been incredible to meet so many parents in our community. It's humbling to hear how they discovered my film after receiving their child's diagnosis and how it gave them hope. I still get messages like that and one of the best parts is seeing the love that parents have for their children with a rare disease— they sacrifice every day. Some have left their careers behind, created amazing organizations, held fundraisers and raised incredible amounts of money for research. On behalf of all of us, the children and adults living with a rare disease, thank you.  Rhonda Thorington I never fully comprehended my capacity to love until I had children of my own. One of my three children was four years old when she got sick and was diagnosed with mixed connective tissue. Raya loves to dance and has taken lessons since she could walk. When the disease impacted her mobility, she required high doses of steroids and one of the side effects was a 25 pound weight gain. She had greater mobility, but she was unrecognizable. Dance costumes that were ordered in the fall didn't fit by the time they arrived for the spring recital, and she had missed months of dance classes because she was too sick to go. I thought this disease robbed my daughter of her love for dancing, but I couldn't be more wrong, thanks to everyone else who loves Raya too.  Rachel Heilmann It is often said that grief is caused because you love someone so much, it hurts when they leave. When Rory was born, I knew she was different, exceptional, that her life would change our lives forever. I didn't know why or how deep that transformation would be. When she died from NARS1 disease, the gaping wound left by her worldly exit was indescribable. Charlie had to understand death at six. I had to understand it at 38, and we are both still learning how to live in love with the same fearlessness as we had before Rory died. The love and memories between Charlie and I continue to flood the emptiness left by the grief of Rory's death. For these precious moments, I'm so grateful, to the moon and back. CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Professional discretion and acting in the best interest of the child affords school district officials options to unravel the snags created by their own protocols and policies webs. What happens when a school district doubles down behind flawed policies? What recourse exists for parents? In this episode, Doc shares an authentic case study from his special education legal issues course. Would you ban a kindergarten student with epilepsy from attending school because of her doctor-prescribed CBD oil? THE CASE (The following is copied from Rogoway Law Group, 2018). “Brooke Adams is a five-year-old girl diagnosed with Dravet Syndrome, a rare and severe form of epilepsy. Brooke currently uses medicinal cannabis-derived CBD oil to significantly reduce the frequency of seizures and medicinal cannabis-derived THC oil as an emergency medication to quickly stop seizures once they start. Brooke obtains both oils pursuant to a valid recommendation from a licensed physician. The Rincon Valley Union School District refused to place Brooke on a District campus because it alleged that her medication is not permitted on a school campus or school bus under both state and federal law; instead, in April 2018, the District offered to Brooke an individualized educational program (“IEP”) that included only one (1) hour of home-based schooling each day.” SPECIAL EDUCATION DUE PROCESS HEARING. Under the Individuals with Disabilities Education Act (“IDEA”), schools are required to ensure that all children with disabilities have access to a free appropriate public education (“FAPE”) that emphasizes special education and related services designed to meet the child's unique needs. When a parent believes that their child has been denied FAPE (in this case, the parents believed the school district was required to educate Brooke with her peers), they can pursue what is known as a “due process hearing” that compels the state's department of education to investigate and then rule on findings of whether the school district violated the students procedural rights, failed to provide FAPE, and also the remedy. The special education due process hearing essentially is a trial including lay and expert witnesses, exhibits, testimony, and briefs filed by the parties. Schools are always represented by an attorney, often via their errors and omissions insurance policy. Parents can retain an attorney or represent themselves. IS CBD OIL ILLEGAL IN SCHOOLS? This varies from state to state, but CBD oil is typically not illegal in schools. However, schools can create policies that ban CBD oil - including CBD oil prescribed by a physician. REASONS WHY DISTRICTS BAN CBD OIL. CBD oil is a slippery slope as it cannot, per federal law, contain more than .3 percent THC (tetrahydrocannabinol). Anything with more THC is considered a schedule 1 drug by the Drug Enforcement Administration and is federally illegal. CBD oil is not sold through typical state-regulated pharmacies. The purity and level of THC in the product is regulated by the manufacturers and sellers, not the FDA. The methods for measuring the level of THC might not be uniform across manufacturers. School staff can test if CBD oil contains THC, but they wouldn't be able to determine the percentage of CBD. A school nurse, or designee, administering CBD oil that somehow contained more than .3 THC would be, in fact, committing a schedule 1 federal drug offense! A school nurse could lose his license! WHY IS THIS A PROBLEM? The Department of Education at the state level is unwilling to give clear guidance on the administration of CBD oil prescribed by a doctor. Instead, state agencies offer vague guidance and direct districts to consult their own legal counsel to inform a stance on the matter. DISCRETION AND ACTING IN THE BEST INTEREST. School officials had options to remedy this situation before it landed on the judge's desk. One course of action would have been to modify the school's board of education policy to permit the administration of CBD oil with a doctor's order. Another plan might have involved working with the manufacturer of the CBD oil to become better informed, and confident in, the monitoring for THC in the end product. Ultimately, the state should have made a clear ruling affirming the use of CBD oil in school and to hold harmless staff for administration of CBD oil that might contain trace amounts of THC. What would you have done? RULING. The judge ruled that Rincon Valley Union School District had denied 5-year-old Brooke Adams a “free and appropriate public education” in the “least restrictive setting” — which federal special education law requires. Hooray, Brooke went to school! SAFETY DOC WEBSITE, BLOG & BOOKS: www.safetyphd.com. The Safety Doc Podcast is hosted & produced by David P. Perrodin, PhD. This podcast and blog post represent the opinions of David P. Perrodin and his guests to the show. This is episode 198 of The Safety Doc Podcast published on 12-13-2022.  Purchase Dr. Perrodin's Books: School of Errors – Rethinking School Safety in America. www.schooloferrors.com Velocity of Information - Human Thinking During Chaotic Times. www.velocityofinformation.com

Prof. Rima Nabbout and patient advocate, Ms Lisa Foster, tell us more about DS and LGS, rare epileptic disorders that are associated with high morbidity and mortality, and the significant impact they have on patients and their families.See omnystudio.com/listener for privacy information.

WISCONSIN MUSIC PODCAST Amplifying Wisconsin Music Episode 092   Joey's Song raises the funds needed to support cutting-edge research and vital patient services in support of pediatric epilepsy and children with special needs.   HOW JOEY'S SONG RAISES FUNDS Because of Joey's love for music, our foundation uses music as our primary fundraising vehicle. Each year, we host a benefit concert that features multi-platinum recording artist and 3-time Grammy winner Butch Vig and his band, The Know-It-All Boyfriends (aka KIAB), who serve as a house band to a steady stream of musical stars. Our Joey's Song family of artists include: Brian Aubert (Silversun Pickups); Charlie Berens (The Manitowoc Minute); Peter Buck and Mike Mills (R.E.M.); Neko Case; Rosanne Cash; Miguel Cervantes (Hamilton); Cory Chisel; Chris Collingwood (Fountains Of Wayne); Ralph Covert (The Bad Examples); Cowboy Junkies; Crash Test Dummies; Marshall Crenshaw; Justin Currie (Del Amitri); Tanya Donelly and Gail Greenwood (Belly); Butch Vig and Duke Erikson (Garbage); Steve Forbert; Robbie Fulks; Laura Jane Grace (Against Me!); Jon Dee Graham (True Believers); Kay Hanley (Letters To Cleo); Joel Hodgson (Mystery Science Theater 3000); Kelly Hogan; Wally Ingram (Sheryl Crow); Jewel; Freedy Johnston; Sam Llanas (BoDeans); Gary Louris and Mark Olson (The Jayhawks); Jesse Malin; Patterson Hood (Drive-By Truckers); Scott McCaughey (Minus 5); Michael Mcdermott; Rhett Miller (Old 97s); Montgomery Gentry; Dan Navarro (Lowen & Navarro); Miles Nielsen; Rick Nielsen and Daxx Nielsen (Cheap Trick); Glen Phillips (Toad The Wet Sprocket); Dave Pirner (Soul Asylum); Linda Pitmon (Zuzu's Petals); Brian Ray (Paul Mccartney); Matthew Ryan; Trapper Schoepp; Jody Stephens (Big Star); Ken Stringfellow (The Posies); Aaron Tippin; Zach Williams (The Lone Bellow); and Steve Wynn (Dream Syndicate). Since Joey's death in 2010, we have produced 5 charity compilation CDs featuring rare and previously unreleased music from nationally known, award-winning musicians.  ​ Our CDs are all available as digital downloads. Radio stations from Australia to the UK to South America to Japan to Sweden and everywhere in between have played our songs. CDs have been downloaded in over 25 countries worldwide.   Joey's Song was started in 2010 following the death of four-year-old Joey Gomoll, who passed one week shy of his fifth birthday. Joey suffered from a rare and debilitating form of epilepsy known as Dravet Syndrome. Dravet's caused persistent seizures which were never able to be controlled through medications leading to severe learning disabilities. While Dravet's robbed Joey of the ability to speak, Joey remained a happy and fun-loving child. He was happiest when music was playing, allowing him to hum, drum, and sing in his own way. To be present when music was playing meant only one thing, that Joey would soon have you dancing and enjoying the music with him.

ONCE UPON A GENE - EPISODE 161 A Rare Collection - Beep Beep Beep There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Brittany Stineman Emergency vehicles headed towards us and the sound of the vehicles coming to save my child's life played on repeat. The tears were different this time. They were tears of joy, gratitude and hope. Nash was born with an ultra-rare genetic condition called SMARD1. He was 11 months old when he was diagnosed, with a life expectancy of only 13 months and there were no treatments. No option was not an option. We started a non-profit called SmashSMARD and we focused on developing a treatment for SMARD1. We celebrated Nash's third birthday in a major way. The same emergency responders who have saved his life on multiple occasions joined the birthday parade celebrating a milestone we never imagined we'd reach.  Matt Hay In elementary school, the nurse conducted hearing tests in class. Each student took a turn wearing the headphones while the nurse turned several knobs, and each would raise a hand a dozen or so times to acknowledge they heard the beeps. When it was my turn, she only played a few beeps, or so I thought. Later in high school, I applied to the United States Military Academy. During the physical, the doctor played the familiar tones, scribbled some notes in my file and said the Army would be sending me a letter to explain what I needed to know. When the letter arrived, I learned that I failed my physical due to substandard auditory acuity and I wasn't qualified to serve in the Army. A few years into college, I could no longer hear well enough to use the phone. When I saw an audiologist, I was referred to a neurologist and MRI results revealed I had bilateral acoustic neuromas on my hearing nerves. I was diagnosed with Neurofibromatosis type 2 (NF2), a rare neurological disorder.  Erin Reoyo Beep, beep, beep sounds the familiar driver of the garbage truck right outside my son's room. She looks for him in the window, but he's not there to wave and cheer as she picks up the bins. I know how much my son adores the garbage truck driver and it's clear she adores him too. She doesn't know he lives with a rare, catastrophic epilepsy called Dravet Syndrome. I've never shared my son's story with the driver. Perhaps I want to spare her the worry and grief that comes with caring for someone with Dravet Syndrome.  Amanda Griffith Atkins When you were three years old, your backpack was bigger than you as you went up the steep stairs of the big yellow bus, off to your first day at preschool. Your school was equipped to care for kids with disabilities and you were safe with teachers that understood your disability. There was a lot to celebrate, but I lost something that day realizing our safe and quiet days at home were over. I waited eagerly at the end of the school day, listening for the beep-beep of the bus, and I ran out to take you into my arms. Can you believe it was ten years ago when you first stepped onto the bus? A lot has changed since then and you're nearly as tall as me now. Although your disability will never allow you to live on your own, the bus represents freedom and independence, taking you to your own world of friends, teachers and staff who love and celebrate you. CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Barry S. Ticho, MD, PhD, Chief Medical Officer at Stoke Therapeutics, gives a detailed overview of Dravet syndrome.As Dr. Ticho explains, Dravet syndrome is a rare neurological condition that usually appears during the first year of life as frequent febrile seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. Moderate to severe cognitive impairment is also common. Most cases of Dravet syndrome occur due to a mutation of the SCN1A gene. The SCN1A gene codes for the protein NaV1.1. With only one functional SCN1A gene, people with Dravet syndrome produce less of the NaV1.1 protein. NaV1.1 is an important protein for the nerves in the brain to work properly. Low levels of NaV1.1 in the brain can lead to seizures and other symptoms of Dravet syndrome.

Helen's wonderful humour combined with her raw accounts of diagnosis, epilepsy and having to be in that constant state of alert give us a deep insight into their lives. We learn a lot about the extremes of juggling life from finding childcare for a young child with complex needs, getting the appropriate support and funding, to the balancing act after returning to full time work. All three Mums talk about their very different experiences and the choices they have made about going back to paid work and the impact of the unpaid work they do as Mum's and carers to disabled children. Trigger and Content WarningsEpilepsyIntubation Not suitable for little earsLanguage - lots of swearing, mentions of drinking alcohol.Guest BiographyHelen grew up in the blusterous but beautiful North Coast of Ireland, a place she still calls home. After studying architecture in Edinburgh, Kansas and Paris, Helen moved to London to practice, married her husband Marcus, a rugged Scot, and they had Finn ‘the tornado' in 2015. Marcus & Helen's world was rocked when Finn had his first seizure at 4 months old, soon after which he was diagnosed with the genetic condition Dravet Syndrome. The family live in Kentish Town, North London where they frequently ‘buggy-run' Finn through Hampstead Heath and the Regents Canal. Helen works full time as an Architect (and also once worked in a circus!) She gets great satisfaction from her work, especially knowing she gets to go home to a great BIG Finnster hug.GlossaryConvulsive (Tonic-Clonic) seizures - Tonic (lose consciousness) and Clonic (your limbs jerk about or you lose control of your bladder/may bite your tongue or have difficulty breathing)Convulsive Status seizures - is when either a tonic-clonic seizure lasts for 5 minutes or more, or one tonic-clonic seizure follows another without the person regaining consciousness in between. If either of these things happen, the person needs urgent treatment to stop the Status before it causes long-term damage. If Convulsive Status Epilepticus lasts for 30 minutes or longer it can cause permanent brain damage or even death. Epileptic seizures explained | Epilepsy ActionFebrile seizures - seizure caused by a fever.CRF - Clinical Research FacilityEHCP - Education & Health Care Plan, a legal document that sets out the educational, healthcare and social care needs of a child or young person.GOSH - Great Ormond street HospitalSENCO - member of staff responsible for SEND in a school or nurseryKey Worker - assigned person to support child with complex needs and their family. Resource Links Dravet Syndrome - https://www.dravet.org.uk/IPSEA - https://www.ipsea.org.uk/ Statistics cited at the start of the episode were from reports commissioned by the Working Families Charity:https://workingfamilies.org.uk/news/off-balance-parents-of-disabled-children-and-paid-work/https://www.workingfamilies.org.uk/wp-content/uploads/2015/11/WF_OffBalance_FINAL1.pdf Hosted on Acast. See acast.com/privacy for more information.

Welcome to this episode of Physician's Weekly podcast. I am your host, Dr. Rachel Giles, from Medicom Medical Publishers, in collaboration with Physician's Weekly. Today's episode features 2 interviews. In our second interview, Physician's Weekly interviews our regular contributor, Dr. MedLaw, a certified radiologist and medicine malpractice lawyer. She talks about the “Captain-of-the-Ship Doctrine”, which is a principle that holds a surgeon liable for the actions of assistants who are under the surgeon's control but who are employees of the hospital, not the surgeon. The surgeon as "the captain of the ship," is directly responsible for an alleged error or act of alleged negligence because they control and direct the actions of those in assistance. But she gives some fascinating examples to explain this principle. But first, Physician's Weekly's Julia Ernst interviews Dr. Danielle Andrade (Professor of Neurology, University of Toronto, Canada).  Vaccination is a common seizure trigger in individuals with Dravet syndrome, which is a severe form of epilepsy characterized by frequent, prolonged seizures often triggered by hyperthermia, and often coupled with developmental delay, speech impairment, ataxia, hypotonia, sleep disturbances, and other health problems. Information surrounding COVID-19 vaccine side effects in patients with Dravet Syndrome would aid caregivers and providers in deciding on and managing COVID-19 vaccination. To that end, Dr. Andrade lead a recently published survey through the Dravet Syndrome Foundation's Family Network to find out whether patients or caregivers with Dravet Syndrome had significant problems if they had received a COVID-19 vaccination. Stay tuned to find out…Enjoy listening!Additional readingHood V, Berg AT, Knupp KG, Koh S, Laux L, Meskis MA, Zulfiqar-Ali Q, Perry MS, Scheffer IE, Sullivan J, Wirrell E, Andrade DM. COVID-19 vaccine in patients with Dravet syndrome: Observations and real-world experiences. Epilepsia. 2022 Jul;63(7):1778-1786. doi: 10.1111/epi.17250. Epub 2022 Apr 20. PMID: 35383912; PMCID: PMC9111612.

In the intro, Laura and Sarah discuss some recent (very minor) challenges. Then, Sarah and Alyce have a rich conversation about Alyce's experiences raising a daughter with Dravet Syndrome, a genetic form of epilepsy that carries additional complications and challenges.Alyce is a lawyer married to another lawyer, and she shares tips on their sharing of childcare duties, ways to stay emotionally connected, and so much more. Resource mentioned by Alyce: Courageous Parent NetworkIn the Q&A, a scientist listener writes in for ideas on how to make the most of $2000 in professional development funds.Episode Sponsors:Nutribullet: Go to nutribullet.com and use promo code BESTOF for 20% off your order.Yipes: Growing up is messy. Yipes! wipes to the rescue! Go to yipeswipes.com/BESTOF for 20% off. Learn more about your ad choices. Visit megaphone.fm/adchoicesSee omnystudio.com/listener for privacy information.

In the intro, Laura and Sarah discuss some recent (very minor) challenges. Then, Sarah and Alyce have a rich conversation about Alyce's experiences raising a daughter with Dravet Syndrome, a genetic form of epilepsy that carries additional complications and challenges. Alyce is a lawyer married to another lawyer, and she shares tips on their sharing of childcare duties, ways to stay emotionally connected, and so much more. Resource mentioned by Alyce: Courageous Parent Network In the Q&A, a scientist listener writes in for ideas on how to make the most of $2000 in professional development funds. Episode Sponsors: Nutribullet: Go to nutribullet.com and use promo code BESTOF for 20% off your order. Yipes: Growing up is messy. Yipes! wipes to the rescue! Go to yipeswipes.com/BESTOF for 20% off. Learn more about your ad choices. Visit megaphone.fm/adchoices

The approach, tested in mice, selectively boosts the expression of the autism-linked gene SCN1A in a subgroup of inhibitory cells. The post Gene therapy targets interneurons to tackle Dravet syndrome appeared first on Spectrum | Autism Research News.

Brett Parsons will be joining us for a chat tonight, Brett is the father to Samuel 12 and Bradley, who has Dravet Syndrome and is 9. We will talk about what challenges, triumphs and inspiration bring up a child with a disability, what impact it has had on his family and of course the impact it has on Brett himself.What is Dravet Syndrome?Dravet Syndrome is a rare neurological condition that encompasses treatment-resistant epilepsy, intellectual disability and a spectrum of associated conditions (known as ‘comorbidities'), which may include autism, ADHD, behaviours that challenge and difficulties with speech, mobility, eating and sleep. Where to find help with Dravet?www.dravet.org.uk#disability #disabilityawareness #disabled #wheelchair #inclusion #autism #chronicillness #wheelchairlife #specialneeds #accessibility #love #chronicpain #invisibleillness #autismawareness #disabilityadvocate #mentalhealth #cerebralpalsy #disabilityrights #disabilityinclusion #spinalcordinjury #downsyndrome #disabilities #disabilitypride #abilitynotdisability #disabilitylife #handicap #diversity #amputee #asdSupport this show http://supporter.acast.com/bcb. See acast.com/privacy for privacy and opt-out information.

The approach, tested in mice, selectively boosts the expression of the autism-linked gene SCN1A in a subgroup of inhibitory cells.

The approach, tested in mice, selectively boosts the expression of the autism-linked gene SCN1A in a subgroup of inhibitory cells.

Dravet Syndrome is a severe genetic epilepsy characterized by lifelong seizures and neurodevelopmental impairment that starts in infancy. Camp4 is developing an RNA therapy that it believes can reduce the frequency and severity of seizures, or eliminate them, by upregulating a gene that underlies the condition. We spoke to Ann Barbier, chief medical officer of Camp4 Therapeutics, about Dravet syndrome, the company's platform technology to develop therapies that can upregulate gene expression, and the potential to apply its approach to a broad range of conditions.

Right before her 1st birthday, Reed had a seizure and that seizure started the search for an answer.  Her parents, Logan and Nicole, advocated for their daughter and the diagnosis of Dravet syndrome was the devestating blow.  But this resilient and amazing family has held onto their faith and they inspire us with their love and outlook on life.

"What is Dravet Syndrome?"Guest: Tori BelserTori has a beautiful 8yr old daughter named Bellalynn. She's got fiery red hair, a sassy, fun personality & Dravet Syndrome. This week we hear about Tori's journey as a mom to Bella's diagnosis & what it means to be BELLA STRONG.Tori Belser - Facebook: @torilynn121720Bill Steddum - Facebook: @Bill.SteddumJaisy George - Instagram: @jaisyyySarah Padgett - Facebook: @sarahpsellshousesHow YOU Can Help:https://www.facebook.com/groups/bellastronghttps://www.dravetfoundation.org/www.pbandjaisy.comInstagram: @pbandjaisyinfo@pbandjaisy.comProduction/Recording/Editing: Tom GeorgeOriginal Music Written and Composed By: Michael Padgett www.michaelpadgettmusic.com/Thank you so much for listening! Please make sure to subscribe! 

Amy Dawn Bourlon-Hilterbran is a Certified Nutritionist, Holistic Naturopath, and a licensed CNA with extensive experience assisting and advocating for medical marijuana patients. More than anything else, she is the parent of a child with a severe form of epilepsy in a pivotal time in history, when cannabis is gaining acceptance as a viable plant medicine.Amy's cannabis journey began when she, like so many other parents, resorted to cannabis to save her child's life. She, a lifelong Democrat, and her husband, Jason, a lifelong Republican, relocated to Colorado to save their teenage son, Austin, who suffers from Dravet Syndrome, the catastrophic form of epilepsy. "He would literally have dozens to hundreds of seizures daily regardless of the prescribed medicines," Amy says, "each day, we thought, would this be the day we would lose our son?" When traditional pharmaceuticals began shutting down his organs, the family moved from their beloved hometown in Oklahoma after efforts to change laws failed in 2014 gave cannabis a chance to save his life. Austin is now living free of the pills destroying his organs, no longer has damage to his kidneys or liver, and lives with cannabis medicine and often, months with no seizures at all.Their tireless efforts of documenting their own journey on social media and hosting bi-partisan political events to save their son Austin's life were successful. Laws regarding cannabis in Oklahoma have changed, now having some of the most progressive medical marijuana laws in the US. She and Jason founded the nonprofit American Medical Refugees Foundation, which has helped thousands of patients worldwide."Small town girl, devoted mother, adoring wife - doing all I can, when I can to end cannabis prohibition." Useful LinksCEO, Millennium Grown https://millenniumgrown.comFounder, Oklahoma Cannabis Expo https://www.oklahomacannabisexpo.com/OklahomaCannabisExpoFounder, American Medical Refugees Foundation https://americanmedicalrefugees,comExecutive Board Member / Chair of the Affordability Program - https://leaf411.org/Top 100+ Women to Know in Cannabis 2020 - Green Market ReportSuperbowl LIII commercialCreator - Talk to the 6630507 Hand Amy Dawn Bourlon-Hilterbran, CNA, CCN, HNPExecutive Board Member Chair - Affordability Program To learn more about plants & your health from Colleen at LabAroma check out this informative PDF: https://mailchi.mp/2fe0e426b244/osw1lg2dkhDisclaimer: The information presented in this podcast is for educational purposes only and is not intended to replace professional medical advice. Please consult your doctor if you are in need of medical care, and before making any changes to your health routine.

Listen NowRenowned neurologist Scott Perry M.D. takes us into the rare world of Dravet Syndrome patients and the exciting new treatments available now and on the horizon. Also, peek into the wide range of research, medications that are making a difference in seizures. He also does a deep dive into current research methods, including how zebra fish are helping to find more medications that work. Dr. M. Scott Perry Related InformationMore on Dravet SyndromeCook Children's Comprehensive Epilepsy ProgramCook Children's NeurosciencesThe Arcuate