Patient Education Podcasts

This episode is our contribution to Podcasthon, a global collaboration of podcasters to raise awareness of their favorite charities. Our favorite charity is us. We are a 501 (c) (3) organization. Please be generous. Donate at AlzAuthors.com. In this deeply personal and informative episode, hosts Marianne and Christy are joined by panelists Jean Lee, Ann Campanella, Loretta Woodward Veney, and David Iverson, all caregivers for ten or more years, as they explore the five pillars of caregiving – emotional toll, physical strain, financial difficulties, social isolation, and coping strategies. Key Themes & Takeaways: Emotional Toll: Caregivers shared moving personal stories of grief, guilt, and anger while navigating their loved ones’ dementia journeys. There is strength in allowing yourself to grieve, as highlighted by Ann Campanella, who stated, “Grieving clears the way to bring in joy and beauty.” Physical Strain: From exhaustion to disruption of sleep cycles, the taxing demands of caregiving impact physical health drastically. David emphasized practicing self-care through exercise and staying physically active as a necessary coping mechanism. Financial Difficulties: A significant challenge highlighted was the cost of care, with inputs from Jean, Loretta, and Dave emphasizing the overwhelming need for better elder care policies. Loretta noted how caregivers should proactively explore local programs like Medicaid waiver lists early on for financial support. Social Isolation: Many caregivers expressed feeling isolated, especially given the stigma surrounding dementia diagnoses. Loretta found joy in keeping her mother socially active, even organizing creative activities like Lego building to keep her mother engaged. Strategies for Coping: Incorporating joy into daily routines was a recurring theme, especially for Loretta, who promised her mom “a little bit of joy every day.” The authors shared reminders to stay connected with loved ones and leverage support groups for affirming connections and shared experiences. After the Podcast Learn more about the panelists Purchase their books Alzheimer’s DaughterBeing My Mom’s MomMotherhood: Lost and FoundWinter Stars: An elderly mother, an aging son, and life's final journey  Note: we are an Amazon Associate and may receive a small commission on book sales at no additional cost to you or the authors.  Learn more about the Moderators Marianne Sciucco Christy Byrne Yates About the Podcast AlzAuthors is the global community of authors writing about Alzheimer’s and dementia from personal experience to light the way for others. Our podcast introduces you to our authors who share their stories and insights to provide knowledge, comfort, and support. Please subscribe so you don’t miss a word. If our authors’ stories move you, please leave a review. And don’t forget to share our podcast with family and friends on their own dementia journeys. We are a 501(c)(3) charitable organization totally reliant on donations to do what we do. Your generosity will help cover our many operating costs, which include website hosting and maintenance fees, service charges to keep things running smoothly, and marketing expenses to promote our authors, expand our content, improve our reach, and more. Our ongoing work supports our mission to lift the silence and stigma of Alzheimer’s and other dementias. To sustain our efforts please donate here. Ideas and opinions expressed in this podcast belong to the speakers and not AlzAuthors. Always consult your healthcare provider and legal and financial consultants for advice on any of the topics covered here. Thanks for listening. We are a Whole Care Network Featured Podcast Proud to be on The Health Podcast Network Find us on The World Podcast Network and babyboomer.org Want to be on the podcast? Here’s what you need to know We’ve got merch! Shop our Store

Hola y bienvenidos de nuevo al Café Syngap1 Podcast! Hoy tenemos una historia centrada en la lucha y amor incondicional; Jaime nos comparte su experiencia como cuidador exponiendo las dificultades y resiliencia del día a día.Bio de ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Merlina⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Información sobre SRF & SYNGAP1:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap Research Fund⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Que es SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Recursos en Español⁠⁠⁠⁠⁠⁠⁠⁠⁠Donaciones:⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠https://syngap.fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsia⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Porque es Importante Obtener un Diagnóstico Genético⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Cómo Obtener Pruebas Genéticas Gratuitas en EEUU⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Planificación Financiera Futura para las Personas con Discapacidades ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Comentarios: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Conéctate con SRF (@curesyngap1):⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ con MikeEpisodio 26 Café SYNGAP1, Marzo 13, 2025#CafeSYNGAP1 #Syngap #SYNGAP1 #CureSYNGAP1 #CafeSYNGAP1Kai #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP

Please give my video a watch and SAVE MEDICAID!   Do it as if your child's life depends on it. I want to emphasize the importance of the current moment regarding Medicaid, not to alarm you, but to underscore the urgency of the situation. This is a critical time for the well-being of our loved ones, and the need to act has never been more pressing.   For over 30 years, I’ve been advocating at the state legislature level and with congressional members, but the potential cuts to Medicaid we are facing now are unlike anything we've encountered before. We must work together to protect this vital resource. Your support could make a significant difference.   To reach out to your Congressional Member consider these two resources: - Epilepsy Foundation: https://www.epilepsy.com/advocacy/advocate  - ARC of US: https://p2a.co/lRPDZ5C  What Medicaid means to your family: https://action.thearc.org/3jLx90b 

Tuesday, March 11, 2025 - Week 11   CHCO Press Release https://www.linkedin.com/posts/curesyngap1_syngap1-prommis-research-activity-7305258171642654723-5h2e fill spots, email info@curesyngap1 dot org   SYNGAP1 ProMMiS #SynGAProMMiS https://curesyngap1.org/resources/studies/syngap1-prommis/ Need your Voice on Unmet Need Please contact me with stories and permission to share. Mike@    PubMed is at 11 YTD https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc   Willsey Lab on Gut Motility, congratulations to Kate McCluskey https://pmc.ncbi.nlm.nih.gov/articles/PMC11885846/pdf/41467_2025_Article_57342.pdf   Citizen Health Data in there! https://www.linkedin.com/posts/citizen-health-inc_citizenhealth-autism-guthealth-activity-7304881198676197376-ng3vCitizen Health -  https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen   Family Conf Video on Drug Repurposing https://www.youtube.com/watch?v=1S_A1jO28-c - Corey, Lindsay, Zoe and Earl.   Thank you Lindsay.   Unravel BioSciences Discussion/Podcast Short: https://www.youtube.com/watch?v=xcB8pv2lKRI Long: https://www.youtube.com/watch?v=CYb0ghaRKm8  LinkedIn: https://www.linkedin.com/posts/unravel-biosciences_raredisease-combinedbrain-drugdevelopment-activity-7302440189782540289-u4sl   Bio-Repository and Roadshow Dates https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3   April 24-25th Nashville, TN June 14-15th Westminster, CO June 18-21th St. Louis, MO June 27-28th Phoenix, AZ July 10-12th Boston, MA July 18-19th Denver, CO July 19-20th Westminster, CO July 19-20th Windsor Locks, CT Sept/Oct TBD Philadelphia, PA Dec 4-5th Atlanta, GA   Share glowing reviews of SRF on Great Non-Profits! https://www.cureSYNGAP1.org/GNP   ICD-10’s as discussed in #S10e163 (https://www.youtube.com/watch?v=iDvW7HfzSGA) next meeting cancelled.  Time to go for ICD-11s. https://www.cdc.gov/nchs/icd/icd-10-maintenance/meetings.html DoD Funding https://umdf.org/cdmrp_cuts_action/ #MEDICAIDCANTWAIT https://thearc.org/policy-advocacy/medicaid/medicaidcantwait/   Episode 164 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

myTomorrows combines AI with healthcare expertise to solve the complex challenge of matching patients to clinical trials, making advanced treatment options more accessible worldwide.

In this episode of Prevention Over Prescription with Dr. K, we're joined by Andrew McConnell, co-founder of Alively.com, to explore the keys to thriving in life. Andrew shares insights from his journey as a former competitive swimmer turned entrepreneur and author, highlighting the five core pillars of health: fitness, nutrition, mindset, sleep and recovery, and social connection and purpose. We discuss the role of stress management, mindset shifts, and the importance of taking action to improve overall well-being. Andrew also explains how Alively.com connects individuals with trusted health and wellness role models for personalized recommendations. Hosted on Acast. See acast.com/privacy for more information.

Can you exercise with AFib? Know someone with AFib—maybe a parent or loved one—who wants to stay active but isn’t sure how? In this episode, Dr. Sean Swearingen, sports cardiologist, breaks down exactly how you can stay active while managing atrial fibrillation, without putting your heart at risk. Whether you're new to AFib or just looking to get back into exercise, you’ll get expert advice on safe workouts, heart health monitoring, and when to reach out to your cardiologist. In This Episode, You’ll Learn: Exercising with AFib: Why staying active is crucial for your heart, and how to safely incorporate exercise into your routine if you have AFib. How to Start Safely: Starting or returning to exercise after an AFib diagnosis? Dr. Swearingen shares the best tips for building up your fitness gradually and safely. Heart Rate Monitoring: The best tools to track your heart health during workouts, including the Zio Patch and Apple Watch, to make sure your AFib stays under control. When to Consult Your Cardiologist: How to know when it’s time to check in with your cardiologist, and how to get personalized advice on exercising with AFib. The Role of Sports Cardiology: Why seeing a sports cardiologist can be a game-changer for safely managing AFib while staying fit. Who Should Listen: Anyone living with, or knows someone living with, AFib who wants to get back into exercise safely. People interested in sports cardiology and how it can help you stay active with heart conditions. Anyone who wants to learn to have a healthier heart Resources Mentioned in This Episode: Rush University Sports Cardiology: Learn more about Dr. Swearingen's sports cardiology practice here. Apple Watch: A great tool for tracking heart rate and rhythm during exercise. Find out more here. Zio Patch: Continuous heart monitoring for those with AFib. Learn more here. American Heart Association: Exercise tips and guidelines for those with heart conditions. Check out their recommendations here. Why You Should Listen: If you’ve been diagnosed with AFib, you’re not alone. But that doesn’t mean you have to stop being active. Dr. Swearingen gives you the expert advice you need to stay safe, stay fit, and stay healthy with AFib. Don’t miss out—tune in now! Connect with Us: Please sign up for our SUBSTACK so you can forward this information to all your friends inboxes! For more episodes, merch, or to send us direct messages: Website: https://yourdoctorfriendspodcast.com Email: [email protected] Socials: Follow @your_doctor_friends on Instagram, TikTok, and YouTube. DM or send us a voice memo—we might feature it on the show! atrial fibrillation, AFib, exercise with AFib, heart health, sports cardiology, heart monitoring devices, Zio Patch, Apple Watch, managing AFib with exercise, post-COVID heart health, exercise guidelines for heart disease, living with AFib, sports cardiology, arrhythmias, fitness for heart patients

2022-03-11 Hosts Craig Lipset, Amir Kalali, and Jane Myles were joined by Stacy Hurt (Parexel) for an insightful discussion around the perspective of a patient on the DCT field.You can join TGIF-DTRA Sessions live on LinkedIn Live on Friday's at 12:00 PM ET by checking out our LinkedIn. Follow the Decentralized Trials & Research Alliance (DTRA) on LinkedIn and X. Learn more about Membership options and our work at www.dtra.org.

Service dogs are often associated with guiding the blind or assisting with mobility, but their impact goes far beyond traditional roles. In this episode, I’m joined by Sue Bresnahan, a pediatric nurse and rare mom, whose son has CACNA1C-related disorder (Timothy Syndrome). When they welcomed Yammy, his service dog, into their family, everything changed. Yammy didn’t just provide companionship—he unlocked a level of independence and confidence that Sue never imagined possible for her son. Sue shares their journey, the process of getting a service dog, and why families of kids with disabilities should consider this life-changing support. If you’ve ever wondered how a service dog could help a child beyond the traditional reasons, this episode is for you. In This Episode, We Discuss: ✔️ Sue’s journey as a rare mom and navigating CACNA1C-related disorder (Timothy Syndrome) ✔️ The unexpected ways service dogs can support kids with disabilities ✔️ How Yammy transformed her son’s independence and confidence ✔️ The process of getting and training a service dog ✔️ What families should know before pursuing a service dog ✔️ Overcoming challenges and misconceptions about service dogs ✔️ Advice for families considering a service dog Resources & Links: 📌 Learn more about CACNA1C-related disorder (Timothy Syndrome) 📌 Service Dog Organizations & Resources - ECAD 📌 Connect with Sue Bresnahan - Instagram 📌 Want to support Once Upon a Gene? Leave a review on Apple Podcasts & share this episode!

PD Avengers co-founders Soania Mathur and Larry Gifford discuss the challenges of REM Sleep Behavior Disorder (RBD), a condition often associated with Parkinson's disease. Larry shares his experience of waking his wife up multiple times due to vivid, disturbing dreams and physical movements during sleep. Despite not having hit anyone yet, he described grabbing things and pulling a lamp toward them, which causes objects to fall. He also mentions how his wife, who sleeps in another room, checks on them during these episodes for safety. Soania relates to this experience, noting she developed RBD after their Parkinson’s diagnosis. She describes having vivid and violent dreams, often feeling anxious. She highlights the unpredictability of RBD, which disrupts her sleep and contributes to daytime fatigue. Both speakers express concern for their care partners, as they experience anxiety and stress from the disruption of their own sleep while trying to ensure safety. The conversation touches on a survey that revealed the significant stress care partners experience due to sleep disturbances in people with Parkinson’s. The speakers acknowledge the importance of sleep for both the individual with Parkinson’s and their care partner, noting that a lack of sleep adds stress and affects overall well-being. They conclude by discussing the ongoing research and the continuous struggle that Parkinson’s disease presents. LINKS: SLEEP SURVEY https://www.pdavengers.com/sleepsurvey PDAVENGERS: www.pdavengers.com SPARK THE NIGHT: https://sparkthenight.org Learn more about your ad choices. Visit megaphone.fm/adchoices

xCures revolutionizes healthcare data management by using artificial intelligence to unlock, organize, and analyze patient information trapped in disconnected systems, improving care.

When Good Morning America's executive producer saw her doctor for joint pain, she never expected to be diagnosed with psoriatic arthritis—or that the medication prescribed to help her would trigger a life-threatening drug reaction. In Part 1 of this two-part episode, she shares her harrowing medical journey, from missed warning signs and delayed diagnosis to a year-long battle with the powerful steroid prednisone. We break down DRESS Syndrome, why medications are often overlooked as the cause of new symptoms, and the serious risks of steroids. Stay tuned for Part 2, where we explore how Cat’s personal health crisis now shapes the national health news she brings to audiences on GMA3. Key Takeaways Don't ignore persistent symptoms. If you have fever, vomiting, or other concerning signs for more than 2 days, get medical care. Medications should always be on the suspect list. Adverse drug reactions don't always show up as a rash. They are great imitators of disease and may involve any organ system and without a rash. Oral steroids are powerful, but risky. They should never be the automatic go-to. If your doctor prescribes steroids, ask about alternatives and make sure there's a clear plan to taper off. Links GMA3: https://www.goodmorningamerica.com/author/gma3 Connect with Archelle ArcHealth Newsletter: https://www.archellemd.com/newsletter Email: [email protected] Instagram:  https://instagram.com/speakupforyourhealth Facebook: https://www.facebook.com/speakupforyourhealth #arthritis #jointpain #sulfadrugs #drugallergy #GoodMorningAmerica #patientcare #patientadvocacy #prednisone

Have you been told to walk away from loved ones with Alzheimer's, assuming there's nothing left to connect with? The pain of feeling disconnected and hopeless in caregiving is all too real. But what if there was a way to find joy and connection in the midst of it all? Let's uncover the power of creativity and joy in dementia care together. In this episode, Marilyn Raichle, author of "Don't Walk Away: A Care Partner's Journey," provides valuable insights on the power of art therapy for Alzheimer's patients. Her personal experience caring for her mother showed her that her mother was still "in there," and they built the loving relationship theyb were unable to create in the past. Quote: People living with dementia have lives to live and gifts to give. Watch on YouTube Key lessons Art Reveals Hidden Abilities Discovering her mother's artistic talents showed that people with dementia still have gifts to share. Focus on What's Present Instead of dwelling on what's lost, concentrate on discovering and appreciating what remains in the person. Take Time to Just Be Spending quality time together, even just five minutes doing something enjoyable, can build meaningful connections. Listen More Than Talk Ask questions and truly listen to their answers, even if repeated, as they may reveal what's important to them. Find Joy in Small Moments Sharing laughter, songs, walks and simple pleasures can create happiness for both caregiver and care recipient. Accept Their Reality Meet them where they are rather than trying to correct or change their perspective. Love Can Still Grow Despite memory loss, the capacity for giving and receiving love remains intact. Resources mentioned in this episode: Participate in the Expose Dementia Conference, The Art of the Matter, happening March 28th to 30th at the Maritime Conference Center in Linthicum, Maryland. Learn more about the intersection of art and dementia care. Tune in to Podcasthon starting on March 15th and listen to the AlzAuthors episode featuring a discussion on the long-term impact of caregiving. After the Podcast Purchase Don’t Walk Away Learn more about the Moderators Marianne SciuccoChristy Byrne Yates Learn more about Aging & Amazing Sign up for the book club About the Podcast AlzAuthors is the global community of authors writing about Alzheimer’s and dementia from personal experience to light the way for others. Our podcast introduces you to our authors who share their stories and insights to provide knowledge, comfort, and support. Please subscribe so you don’t miss a word. If our authors’ stories move you, please leave a review. And don’t forget to share our podcast with family and friends on their own dementia journeys. We are a 501(c)(3) charitable organization totally reliant on donations to do what we do. Your generosity will help cover our many operating costs, which include website hosting and maintenance fees, service charges to keep things running smoothly, and marketing expenses to promote our authors, expand our content, improve our reach, and more. Our ongoing work supports our mission to lift the silence and stigma of Alzheimer’s and other dementias. To sustain our efforts please donate here.  Ideas and opinions expressed in this podcast belong to the speakers and not AlzAuthors. Always consult your healthcare provider and legal and financial consultants for advice on any of the topics covered here. Thanks for listening. We are a Whole Care Network Featured Podcast Proud to be on The Health Podcast Network Find us on The World Podcast Network and babyboomer.org Want to be on the podcast? Here’s what you need to know We’ve got merch! Shop our Store

In this episode of Prevention Over Prescription with Dr. K, Dr. K explores practical strategies to improve mental health by focusing on exercise, nutrition, sleep, mindfulness, and self-care. He shares personal insights and evidence-based recommendations to enhance listeners' overall well-being, emphasizing the importance of aligning daily habits with personal values for long-term psychological health. Hosted on Acast. See acast.com/privacy for more information.

How well do you really understand your metabolism? What does it mean to be truly "Metabolically Healthy"? Dr. Greg Dodell, a board certified endocrinologist and the genius behind @everythingendocrine on social media, joins me to unwrap this naturally dense topic. We cover why some people see unexpected jumps in blood sugar after meals, how insulin regulation works, and what factors impact glucose production beyond just diet. We also get into preventive health strategies, from tracking metabolic markers to calcium scores and even colonoscopies (yes, we even speculate about what happens to blood sugar during one!). What You’ll Learn in This Episode: ✅ How glucose regulation works and why it’s crucial—even if you’re not diabetic ✅ The surprising factors that cause post-meal blood sugar spikes ✅ How CGMs provide real-time insights into your metabolism and overall health ✅ The role of calcium scores in assessing cardiovascular risk ✅ Why metabolic health is a long-term investment, and how to start optimizing it today Dr. Dodell brings a mix of evidence-based insights and real-world applications, making complex topics both accessible and entertaining. If you’re curious about metabolic health, looking to fine-tune your approach to diet and lifestyle, or just love a good endocrinology deep dive, this episode is packed with practical takeaways. 🎧 Listen now to start making smarter choices for your metabolic future! Connect with Us: Please sign up for our SUBSTACK so you can forward this information to all your friends inboxes! For more episodes, merch, or to send us direct messages: Website: https://yourdoctorfriendspodcast.com Email: [email protected] Socials: Follow @your_doctor_friends on Instagram, TikTok, and YouTube. DM or send us a voice memo—we might feature it on the show! If you found this episode insightful, share it with a friend or post about it on social media—it’s the best way to spread health knowledge. And don’t forget to follow @everythingendocrine for more expert takes on metabolism and endocrinology!

2025-02-28 We welcomed Mike Wenger (FullStack Trials) and Melissa Holbrook (Clinical Research Advisory Group LLC) for a discussion around the biggest challenges in clinical trial technology adoption. We dived into getting feedback from sites, finding new ways to navigate using AI, and moreYou can join TGIF-DTRA Sessions live on LinkedIn Live on Friday's at 12:00 PM ET by checking out our LinkedIn. Follow the Decentralized Trials & Research Alliance (DTRA) on LinkedIn and X. Learn more about Membership options and our work at www.dtra.org.

Friday, February 28, 2025 - Week 9   Hope vs. Despair?   Despair: NIH Cuts NBC https://www.nbcnews.com/science/science-news/trumps-nih-budget-cuts-threaten-research-stirring-panic-rcna191744NYT https://www.nytimes.com/2025/02/25/briefing/president-trump-vs-medical-research.html?unlocked_article_code=1.0U4.-7WW.F3yrk2tjpLJe&smid=url-share  FDA Staffing Cutshttps://www.biopharmadive.com/news/fda-layoffs-trump-doge-hhs-cuts-impact/740499/ Medicaid Cuts https://www.disabilityscoop.com/2025/02/27/house-vote-tees-up-billions-in-cuts-to-medicaid-disability-services/31321/https://www.politico.com/news/2025/02/27/republicans-medicaid-expansion-budget-00206612 President who doesn’t care https://time.com/7002003/donald-trump-disabled-americans-all-in-the-family/ DOGE head who also doesn’t care https://www.usatoday.com/story/life/health-wellness/2025/02/25/elon-musk-donald-trump-disabled-people/80112602007/   Hope: Pipeline https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ Community https://curesyngap1.org/team/ Global: https://syngapglobal.net/ ICD-10 Code https://www.rareepilepsynetwork.org/about-icd-codes    Disability is Political   Take it or Advocate?   Taking it does not work.     Advocate: SRF https://curesyngap1.org/srf-legislative-advocacy-efforts-for-syngap1/ ELF https://everylifefoundation.org/ Research America https://www.researchamerica.org/marys-letters/research-advocates-unite-in-force/  Alliance for a Stronger FDA https://www.strengthenfda.org/  Modern Medicaid Alliance https://modernmedicaid.org/about-the-alliance/    Annie Kennedy’s comments at the ELF Capitol Briefing: https://www.youtube.com/live/F6kfKsYCQYU?si=ihWOl7Lda7Steg3p&t=3391    Responsibility to those who cannot or will not be here.  10% of Americans.  10k diseases, all chronic.  Childhood.  Do not have FDA approved treatments, no cures.  Staggering Financial Costs aka Toxicities.  Efforts to date have allowed for interventions that may still matter.  We have invested so much.     Episode 163 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1

I’m joined by Christian Henry, CEO of PacBio, a company leading the way in high-accuracy long-read sequencing. We break down what that means in simple terms, how this technology is helping families solve their diagnostic odyssey, and why some genetic tests miss key information that PacBio can detect. Plus, if you've already had whole genome sequencing without finding an answer, Christian explains why it might be time to take another look. We also dive into the future of genetic testing, what needs to change for sequencing to become a routine part of medical care, and how families and advocates can help drive progress forward. This episode is all about hope, science, and the relentless pursuit of answers. Happy Rare Disease Day, and thank you for being part of this incredible community! Topics Covered: ✅ What is long-read sequencing, and how is it different from traditional genetic testing? ✅ How PacBio’s technology is solving rare disease mysteries faster and more accurately. ✅ Why some families don’t get answers from whole genome sequencing—and why they should consider trying again. ✅ The biggest barriers to making genetic testing more accessible and routine in rare disease care. ✅ How long-read sequencing could help lead to future treatments, not just diagnoses. ✅ What the next five years of genomic sequencing could look like. ✅ How rare disease families and advocacy groups can collaborate with PacBio to accelerate discoveries. Resources & Links: 🔗 Learn more about PacBio and long-read sequencing: https://www.pacb.com/ 🔗 Follow PacBio on X: @PacBio 🔗 More about Rare Disease Day: www.rarediseaseday.org 💬 Join the Conversation! Have you been on a diagnostic odyssey? Have questions about genetic testing? Share your thoughts and experiences with me on Instagram 🎧 Listen & Subscribe: Don’t forget to subscribe so you never miss an episode! If you love the show, leave a review—it helps more rare disease families find these conversations. 💙

Generate:Biomedicines is pioneering generative biology at the intersection of AI and medicine, creating breakthrough therapeutics by designing and testing millions of proteins simultaneously.

We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET -  #S10e162 Tuesday, February 25, 2025 - Week 9   ADVOCACY - Thank you Jessica, Jaime and Vicky for repping SRF at ELF RD Week https://www.linkedin.com/posts/curesyngap1_raredc2025-syngap1-advocacy-activity-7300237949831368705-FIRS    SPRINT4SYNGAP - April 26, 2025 Webinar: cureSYNGAP1.org/S4S25 Guide: cureSYNGAP1.org/S4SGuide   LEVERAGE ON OUR GRANTS #Finland #Missense: https://www.linkedin.com/posts/graglia_kulttuurirahastontuella-skr2025-syngap1-activity-7296289488912191489-rWl-/?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE   STUDY OF THE WEEK - Email [email protected] Dreem: https://curesyngap1.org/resources/studies/beacon-dreem-eeg-device-study-in-syngap1/    Study Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing    IMPACT REPORT NL43 cureSYNGAP1.org/NL43    ONLINE DID YOU KNOW We have a calendar now! https://curesyngap1.org/calendar/ Brochure is updated: cureSYNGAP1.org/Brochure  YouTube - Adding Family Day Talks - https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2    COMPANY OF THE WEEK - Stoke & Biogen! STK ($0.45Bn) partners with BIIB ($20.5Bn) https://investor.stoketherapeutics.com/news-releases/news-release-details/biogen-and-stoke-therapeutics-enter-collaboration-develop-and   #SpecialNeedsTRAVEL e31 of SYNGAP1 Stories. Navarros - cureSYNGAP1.org/Stories  Comments on YouTube are great, see this presentation by SRF’s Heather on travel… https://youtu.be/c7S7q_gK4Bk?si=wM4Ter_q8-37Yg8V   RESEARCH UPDATE There are 318 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 10 (Coller included) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Frazier paper on NET: https://onlinelibrary.wiley.com/doi/10.1002/aur.3290   VOLUNTEER SPOTLIGHT Toby and John Brimsek are tireless.  Thank you. https://curesyngap1.org/team/volunteers/emily-brimsek-phd/    VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25  REGISTER FOR BRAIN DONATION via https://www.autismbrainnet.org/ https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1486227/full   SOCIAL MATTERS - 3,937 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1.28k YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11.5k Twitter https://twitter.com/cureSYNGAP1 - 46.6k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 162 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1