Podcasts about Dravet syndrome

We are so happy to welcome Mike Gomoll to the podcast. Mike is the founder of ⁠Joey's Song⁠. Mike's son, Joey, lived with Dravet Syndrome - a rare, debilitating form of epilepsy that affects children in the most profound ways. After Joey's death in 2010, to raise funds and awareness for epilepsy research, Mike started this foundation and now produces an associated music festival called Freezing Man. Every January, in Madison, Wisconsin, artists like Curt Smith from Tears for Fears and Jane Wiedlin of The Go-Go's unite and perform shows to help support this extremely worthy cause. No surprise, but Mike is also a fan of 80s music, and so he offers his well-informed opinion on songs 80 to 71 from the KROQ 1989 year-end playlist. Learn more about your ad choices. Visit megaphone.fm/adchoices

We are so happy to welcome Mike Gomoll to the podcast. Mike is the founder of ⁠Joey's Song⁠. Mike's son, Joey, lived with Dravet Syndrome - a rare, debilitating form of epilepsy that affects children in the most profound ways. After Joey's death in 2010, to raise funds and awareness for epilepsy research, Mike started this foundation and now produces an associated music festival called Freezing Man. Every January, in Madison, Wisconsin, artists like Curt Smith from Tears for Fears and Jane Wiedlin of The Go-Go's unite and perform shows to help support this extremely worthy cause. No surprise, but Mike is also a fan of 80s music, and so he offers his well-informed opinion on songs 80 to 71 from the KROQ 1989 year-end playlist. Learn more about your ad choices. Visit megaphone.fm/adchoices

In this podcast, Simona Giorgi discusses her paper 'Seizures in children with Dravet syndrome in extreme heat: A qualitative study of parental perspectives'. The paper is available here: https://doi.org/10.1111/dmcn.70162   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

A quick take on what's on the horizon for Dravet syndrome treatment Credit available for this activity expires: 03/17/2027 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/rapid-reports-dravet-syndrome-synthesizing-pipeline-2026a10007ux?ecd=bdc_podcast_libsyn_mscpedu

Nayla Chaijale, Medical Strategy Lead for Rare Syndromes at UCB, describes Dravet syndrome, a rare, medication-resistant epileptic encephalopathy that involves seizures and significant co-morbidities like cognitive and developmental delays. Their approved drug FINTEPLA has a unique mechanism of action that modulates pathways in the brain and has demonstrated a significant reduction in the frequency of convulsive seizures in those with this condition. Nayla notes that the good news is that most patients with Dravet syndrome have a mutation in the SCN1A gene, a critical biomarker that enables accurate diagnosis. Nayla explains, "So, Dravet syndrome is a rare condition in epilepsy, and what we call it is neurodevelopmental and epileptic encephalopathy. I'm just going to call it DEEs, to say that it's a rare epileptic syndrome. Even though it's very rare, it's also very burdensome for the patients and their families. So, people living with these conditions start having the symptoms at a very early age, between two and 15 months of life. And it usually appears after a fever or a high temperature. And the symptoms are seizures that usually are long, prolonged seizures. It's not just about the seizures, it's also the other symptoms, such as potential cognitive delays and other developmental delays, problems with sleep, problems with behavior over time."   "The good news about Dravet syndrome is that there is a very well-established biomarker. So, there is a genetic test for it, for the gene code that is called SCN1A. And also, in science, we love to have acronyms, but really, it's related to a specific type of receptors or proteins that are in charge of neuronal transmission and communication, like in the neurons. And these are called sodium channel neurotransmitters. And there is a mutation of that gene that is very characteristic, around 90% of these patients will have that mutation of the gene. So, having that biomarker will give a very good indication to the healthcare provider that the person living with the conditions may have Dravet syndrome." #UCB #DravetSyndrome #RareEpilepsy #FINTEPLA #Neuroscience #RareDiseases #EpilepsyAwareness #MedicalInnovation #PatientCare #NeurodevelopmentalDisorders #ClinicalTrials #RareDiseases ucb.com Download the transcript here

Nayla Chaijale, Medical Strategy Lead for Rare Syndromes at UCB, describes Dravet syndrome, a rare, medication-resistant epileptic encephalopathy that involves seizures and significant co-morbidities like cognitive and developmental delays. Their approved drug FINTEPLA has a unique mechanism of action that modulates pathways in the brain and has demonstrated a significant reduction in the frequency of convulsive seizures in those with this condition. Nayla notes that the good news is that most patients with Dravet syndrome have a mutation in the SCN1A gene, a critical biomarker that enables accurate diagnosis. Nayla explains, "So, Dravet syndrome is a rare condition in epilepsy, and what we call it is neurodevelopmental and epileptic encephalopathy. I'm just going to call it DEEs, to say that it's a rare epileptic syndrome. Even though it's very rare, it's also very burdensome for the patients and their families. So, people living with these conditions start having the symptoms at a very early age, between two and 15 months of life. And it usually appears after a fever or a high temperature. And the symptoms are seizures that usually are long, prolonged seizures. It's not just about the seizures, it's also the other symptoms, such as potential cognitive delays and other developmental delays, problems with sleep, problems with behavior over time."   "The good news about Dravet syndrome is that there is a very well-established biomarker. So, there is a genetic test for it, for the gene code that is called SCN1A. And also, in science, we love to have acronyms, but really, it's related to a specific type of receptors or proteins that are in charge of neuronal transmission and communication, like in the neurons. And these are called sodium channel neurotransmitters. And there is a mutation of that gene that is very characteristic, around 90% of these patients will have that mutation of the gene. So, having that biomarker will give a very good indication to the healthcare provider that the person living with the conditions may have Dravet syndrome." #UCB #DravetSyndrome #RareEpilepsy #FINTEPLA #Neuroscience #RareDiseases #EpilepsyAwareness #MedicalInnovation #PatientCare #NeurodevelopmentalDisorders #ClinicalTrials #RareDiseases ucb.com Listen to the podcast here

What do parents and caregivers need to know about genetic testing for Dravet syndrome? Credit available for this activity expires: 1/13/27 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/genetic-testing-dravet-syndrome-patient-physician-2026a10000ny?ecd=bdc_podcast_libsyn_mscpedu

Send comments and feedbackThe latest on Dravet syndrome: Diagnosis, genetic testing, comorbidities, treatment, and more. Dr. Parthvi Ravat interviews Dr. Ingrid Scheffer. Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: podcast@ilae.org.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, Instagram, and LinkedIn.

How understanding the cause of Dravet syndrome could take treatment and management to the next level. Credit available for this activity expires: 12/02/26 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/genotype-phenotype-connection-dravet-syndrome-preparing-2025a1000wxb?ecd=bdc_podcast_libsyn_mscpedu

In this episode, author T.L. Mccoy opens up about the realities of parenting a child with Dravet Syndrome, a rare and catastrophic form of epilepsy. She shares her family's emotional journey, the daily challenges they face, and the strength it takes to advocate, educate, and persevere. T.L. brings awareness to this often misunderstood condition and offers hope to families navigating similar paths.About T. L.T.L. McCoy is the founder of Blue Round Book Group, LLC, and the author of DELILAH VERSUS THE GHASTLY GRIM, a magical middle-grade fantasy novel inspired by her real-life granddaughter, who lives with a rare and life-threatening seizure disorder known as Dravet Syndrome.The story follows a young girl who, after a life-threatening seizure, is transported through an indigo door in her mind into a strange and perilous world. There, she must unlock her hidden powers to survive — and save others.T.L. didn't set out to write a book — she set out to give children like her granddaughter a hero they could see themselves in. According to a 2019 study, only 3.4% of children's books feature disabled protagonists. T.L.'s story blends fast-paced fantasy with emotional depth, creating a bridge between real-world challenges and epic adventure.She brings warmth, purpose, and honesty to every interview and is passionate about disability representation in fiction, family storytelling, neurodiversity, and empowering children through inclusive literature.About TheresaA wife and a mother to two children and grandmother, Theresa Alexander Inman is a Parenting Coach, Board Certified Behavior Analyst, Infant Toddler Development Specialist, Autism Spectrum Disorder Clinical Specialist. Introduced to behavior analysis in 2007 after years in the juvenile justice system.Her goal is to improve the lives of children and families by helping them strategize child development skills to prevent or reduce the effects of possible delays while having fun! She also served as a panelist on the first annual Autism World Summit.Theresa is also an author, having published ⁠⁠⁠⁠⁠⁠⁠⁠⁠“Pathways to Early Communication”⁠⁠⁠⁠⁠⁠⁠⁠⁠ in 2022. Find it at your favourite book seller.Connect with Theresa today!• Instagram | ⁠⁠⁠⁠⁠⁠⁠⁠⁠Theresa Inman⁠⁠⁠⁠⁠⁠⁠⁠⁠• LinkedIn | ⁠⁠⁠⁠⁠⁠⁠⁠⁠Theresa Inman⁠⁠⁠⁠⁠⁠⁠⁠⁠• BabyBoomer.org | ⁠⁠⁠⁠⁠⁠⁠⁠⁠Theresa Inman⁠⁠⁠⁠⁠⁠⁠⁠⁠• YouTube | ⁠⁠⁠⁠⁠⁠⁠⁠⁠Parenting with Confidence⁠⁠⁠⁠⁠⁠⁠⁠⁠• Tiktok | ⁠⁠⁠⁠⁠⁠⁠⁠⁠ https://www.tiktok.com/@parentcoachtheresa• Spotify via Anchor.fm | ⁠⁠⁠⁠⁠⁠⁠⁠⁠Parenting with Confidence ⁠⁠⁠⁠⁠⁠⁠⁠⁠Website: https://www.theresaalexanderinman.com/About Parenting on the SpectrumRaising autistic children comes with unique joys, challenges, and learning moments. Join host Theresa as she explores the diverse experiences of parenting kids on the spectrum. Each episode features expert insights, real-life stories, and practical strategies to help you navigate this journey with understanding, compassion, and strength. Whether you're a parent, caregiver, or ally, this podcast is your go-to resource for fostering connection and celebrating neurodiversity. Please share if this has been helpful to you. Thank you for your comments and ratings. Be well! Theresa

In this episode, Nicole Watson shares her daughter Emma's powerful journey living with Dravet syndrome, a rare and severe form of epilepsy. From the early days of uncertainty and searching for answers to finding the right care and treatment, Nicole opens up about resilience, hope, and the lessons learned along the way. Her story offers heartfelt insight for families, caregivers, and healthcare professionals alike.

In this podcast, Alejandra Vasquez discusses her paper 'State-of-the-art management of Dravet syndrome'.   The paper is available here: https://doi.org/10.1111/dmcn.16475   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

T.L. McCoy is the founder of Blue Round Book Group, LLC, and the author of DELILAH VERSUS THE GHASTLY GRIM, a magical middle-grade fantasy novel inspired by her real-life granddaughter, who lives with a rare and life-threatening seizure disorder known as Dravet Syndrome. The story follows a young girl who, after a life-threatening seizure, isContinue reading "More Books with Disabled Protagonists, Please"

In this episode, I share the story behind why I built BudgetDog and the mission that drives me every single day. From starting out $304,000 in debt as a 22-year-old CPA, to becoming a millionaire in seven years, I explain how personal finance systems transformed my life—and why I knew I had to share them with others.   This isn't about quick fixes or get-rich-quick schemes. It's about creating simple, automated systems that work for real families in the real world. I also talk about the deeper “why” behind my work—from my daughter Logan's fight with Dravet Syndrome, to our family's $1 million donation goal, to the long-term community we're building through BudgetDog Academy.     Episode Timeline & Highlights [0:00] – Introduction [1:33] – My own financial struggles after college and the wake-up call that changed everything [2:29] – How I paid off $304K in debt and built a millionaire net worth in just seven years [3:06] – From sharing online casually to building a national bestseller and full-time business [5:05] – Why our six-month roadmap works for families at every stage [7:04] – The power of simplifying and automating your money systems [9:24] – Why money matters when it comes to making an impact—especially in the fight against Dravet Syndrome [13:29] – Reframing budgeting: not restriction, but aligning your money with your values [16:15] – The hidden burden of decision fatigue—and how automation solves it [18:16] – Why I pour into students even when it's not the most “commercially profitable” choice [23:32] – Why I don't view other financial platforms as competition [25:25] – Fatherhood, motivation, and building for the next generation     Key Takeaways   Systems Beat Discipline – Financial freedom comes from automation and simplification, not white-knuckled discipline. Money Creates Impact – Wealth isn't just about you; it's fuel for making a bigger difference in the world. Play the Long Game – Success—both financial and entrepreneurial—is a marathon, not a sprint.       Quotables   “Budgeting isn't about restriction—it's about aligning your money with your values.” “Money does fund impact, whether we like it or not.” “Simple scales, fancy fails. The less you do, the better your results.” “If you don't bring the best of yourself, you'll get a lax version of the next generation.”     Links & Resources   My book, The Roadmap to Financial Freedom: https://budgetdog.com/book Learn more about BudgetDog Academy: https://budgetdog.com Follow me on Instagram: https://instagram.com/budgetdog       If this episode resonated with you, please share it with someone who needs encouragement on their financial journey. And don't forget to rate, follow, and review the podcast—your support helps more families discover the path to freedom and impact.

Send us a textIn this inspiring episode of Living the Dream with Curveball, we sit down with T.L.M. McCoy, author and founder of Blue Round Book Group, LLC. T.L. shares the heartfelt story behind her middle-grade fantasy novel, "Delilah Versus the Ghastly Grimm," written for her grandchild diagnosed with Dravet syndrome. She discusses the importance of disability representation in children's literature and how her book aims to empower kids with disabilities by providing relatable heroes. T.L. delves into the challenges of starting her own publishing company, emphasizing the need for inclusive storytelling and the personal journey of bringing her vision to life. Listeners will gain insight into the creative process, the significance of community support, and the drive to break barriers in the literary world. Join us for a conversation that champions the message that it's never too late to pursue your dreams and make a difference through storytelling. Don't miss this opportunity to learn from T.L.'s passion and dedication to creating a more inclusive literary landscape.

In this heartfelt guest episode, my wife and I are hosted by Josh Madsen as we share the deeply personal journey of our daughter Logan's battle with Dravet Syndrome, a rare and challenging seizure disorder. We open up about the emotional rollercoaster we've experienced as parents, the frustrations of traditional medical advice, and the incredible transformation we've seen through alternative therapies.   From discovering toxic mold in our home to seeing Logan climb rock walls and slide down playgrounds for the first time, this conversation highlights the power of persistence, hope, and finding the right team. Whether you're a parent navigating a diagnosis or just in need of a reminder that healing is possible, this episode will move you and motivate you.   Episode Timeline & Highlights [0:00] - Introduction [1:04] - Logan's second intensive visit and breakthrough improvements [2:30] - The emotional impact of being told “this is just how it is” [3:32] - Discovering primitive reflex integration as the missing key [5:31] - How inflammation, mold, and poor digestion masked real progress [6:58] - From symptoms to solutions: focusing on root causes [9:59] - “Iowa bubble” moments—why the right environment made the difference [12:30] - Working with a diverse and united care team that knows Logan [15:07] - Why different provider perspectives accelerated her results [17:23] - Celebrating Logan's newfound strength and hope for the future     Key Takeaways   Never Settle for ‘That's Just the Syndrome' – Parents must trust their instincts and seek deeper answers when something feels off. Environment and Root Cause Matter – Mold, gut health, and mitochondrial dysfunction were major factors in Logan's progress. The Right Team Makes All the Difference – When your care team is collaborative and committed, breakthroughs happen faster.       Quotables   “When we came here, it was like she woke back up.”   “If you're being brushed off by your doctor, something is being missed.”   “You don't need to settle for survival—there's a way to thrive.”     Links & Resources   Learn more about BudgetDog Academy: https://budgetdog.com Follow me on Instagram: https://instagram.com/budgetdog   If this story touched you or could help someone you know, please share this episode. And don't forget to rate, follow, and review the podcast—your support helps more families find the hope and answers they deserve.

In this episode, I open up about one of the most complex and personal aspects of wealth building—understanding when enough is truly enough. After achieving every financial milestone I once dreamed of—paying off six-figure debt, reaching millionaire status, and building a $4M+ net worth—I still found myself chasing the next number. Why? Because “enough” kept changing.   I share insights from deeply personal experiences, pivotal conversations with my mother-in-law and behavioral psychologist, and journal prompts to help you define your own version of success. Whether you're just starting your financial journey or already well on your way, this episode will challenge how you think about progress, satisfaction, and legacy.     Episode Timeline & Highlights   [0:00] - Why “enough” is the hardest number to define [1:00] - Hitting financial freedom early—but still feeling like it's not enough [3:06] - The dopamine high of paying off $76,000 in debt [5:12] - The scoreboard mindset and its hidden cost [6:12] - Redefining success beyond money with wisdom from my mother-in-law [9:16] - Breaking free from limiting beliefs and embracing wealth adaptation [14:05] - How helping others became a deeper source of fulfillment [16:16] - Unpacking the emotional baggage behind our enough number [20:08] - A step-by-step framework for defining your personal “enough” [23:42] - Journal prompts to clarify what truly matters in your life [28:21] - Why defining “enough” for yourself is the most powerful financial move you can make     Key Takeaways   Enough Is a Decision, Not a Number – If your goals keep shifting, it's likely you're tying your worth or safety to an ever-moving financial target. Redefining Success Leads to Deeper Fulfillment – When you measure impact, time with family, or student outcomes instead of dollars, your purpose becomes clearer. Frameworks and Reflection Are Essential – Clearly defining your baseline, comfort, and aspirational “enough” levels can help you stay grounded and focused.       Quotables   “Enough isn't a number. It's actually a decision.”   “You adapt to wealth just like anything else in life. It becomes normal—so stop chasing the next high.”   “If you hit every financial goal and still feel behind, it's time to check in with what you're really after.”   “Money is a proxy for control, safety, and worth—but those needs can't be fixed with a bigger bank account alone.”     Links & Resources   Learn more or join BudgetDog Academy: https://budgetdog.com Book a strategy call with my team: https://budgetdog.com/academy My national bestseller, The Roadmap to Financial Freedom, supports Dravet Syndrome research: https://budgetdog.com/book       If this episode challenged your thinking or helped you clarify your goals, please rate, follow, and share it with someone else who needs to hear this message. Let's keep building a life that's rich in every sense of the word. Catch you next time.

Over 45,000 people in Ireland have epilepsy, making it one of the most common neurological conditions.Yet, for the multiple types of epilepsy and multiple ways in which they present, it is often misunderstood.John Verling, father of Freddie Verling, who has Dravet Syndrome, and Mia Sherwood Scully who has temporal lobe epilepsy join Kieran to discuss their experiences.

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  

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

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 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.

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.

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.

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.

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/

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/

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