Patient Leader Podcasts

Join Eric Goosby and Ben Plumley as they delve into the latest global health news coming out of Washington DC, including funding cuts from the US government to key international health programs, whether the administration will abide by the continuing resolution passed by Congress to fund all global health programs approved by Congress for 2025, and the implications for the UN, Gavi and US academic institutions. They also try to make sense of the significant job cuts announced by the administration to the Department of Health and Human Services today , and the continuing outbreak of measles in the US. These are hectic – if not entirely productive – times in the world of global health. But is a Trump administration strategy emerging from the chaos of executive orders, termination notices and the firing of so many key staff? 00:00 Introduction and Episode Overview 01:04 US Government Funding for International Development 01:49 Impact of Funding Cuts on Health and Human Services 02:12 The Growing Measles Crisis 02:36 Debate on Continuing Resolution and Budget Cuts 09:18 Termination of Funding to Gavi 13:25 Public Health Strategy and Administration Tactics 40:58 The Role of Individual Rights in Public Health 47:59 Conclusion and Final Thoughts Join the Conversation How do you see the future of global health unfolding? Share your thoughts in the comments! Subscribe & Stay Updated Listen on Spotify, Apple Podcasts, or your favorite podcast platform Watch on YouTube & subscribe for more in-depth global health discussions – www.youtube.com/@shotarmpodcast

In this heartfelt conversation, Heather Straughter shares her profound journey through grief after the loss of her son, Jake. She discusses the pivotal moments that shaped her path, the importance of community support, and the ongoing nature of grief. Heather reflects on the complexities of acknowledging loss, the unexpected triggers that can arise, and her evolving perspective on grief hierarchies. Through her experiences, she emphasizes the significance of finding one's own way to cope and the power of humor in navigating the dark moments of grief. In this conversation, Heather Straughter shares her personal journey through grief after the loss of her son, Jake. She discusses societal expectations surrounding grief, the dual nature of grief as both painful and transformative, and the importance of community support. Heather also talks about the creation of her podcast, 'A Place of Yes,' aimed at sharing stories of families dealing with similar challenges, and her mission to help families navigate the complexities of caring for children with special needs. The conversation emphasizes the need for compassion, understanding, and proactive support for grieving families. Follow: Jake's Help From Heaven A Place Of Yes Podcast on Instagram Chapters 00:00 Introduction and Personal Connection 01:41 The Impact of Grief on Life Choices 02:50 Navigating Grief and Community Support 08:21 The Ongoing Nature of Grief 10:33 The Complexity of Grief and Acknowledgment 12:26 Triggers and Unexpected Moments of Grief 15:59 The Hierarchy of Grief 18:23 Coping Mechanisms and Humor in Grief 22:09 The Dark Side of Grief 24:22 Unspoken Aspects of Grief 26:07 Finding Your Own Path in Grief 29:20 Navigating Grief: Societal Expectations and Personal Experiences 32:43 The Dual Nature of Grief: Pain and Growth 36:47 Creating a Supportive Community: The Birth of a Podcast 42:06 Expanding the Mission: Helping Families Beyond Local Boundaries 54:16 Words of Comfort: Supporting Grieving Families

Wednesday, March 26, 2025 – Week 13 #S10e166 was remarkable, #UnMetNeed https://www.youtube.com/watch?v=rut1q0LzdtA, with almost 600 views this is the best S10 episode, ever.  Don’t miss it, or the comments.  Feel free to add to them!   One of the things we did was make a CTR Survey, we have 130+ respondents, half US, half ROW - Poland and Australia.  Not too late to take part: https://forms.gle/tx5CUWXiQMDcJhHA8   Since CHCO PR in #S10e164, we have had two more: Dallman & Sohal PR36 for GI meds: https://curesyngap1.org/blog/julia-dallman-awarded-grant-for-syngap1-research/ PR37 for Cognition meds: https://curesyngap1.org/blog/dr-vikaas-sohal-ucsf-receives-syngap-research-fund-grant-for-syngap1-therapeutic-strategies/    #Sprint4Syngap 2025 is in one month! Start or join a team and fundraise! https://curesyngap1.org/sprint25 look at these faces https://www.youtube.com/watch?v=IW7owIsdjss   Getting to know our community: - Syngap Stories Podcast - KAH in Episode 32 https://cureSYNGAP1.org/Stories  - Cafe SYNGAP1 with Jaime https://curesyngap1.org/podcasts/cafe-syngap1/jaime/ - Sibling Story with Kallen https://cureSYNGAP1.org/Sibling  - DW of SRF AUS https://www.facebook.com/reel/1345989426605772 - Why Attend Cure SYNGAP1 Conference Video https://cureSYNGAP1.org/Pre25   - Tomorrow Webinar #100 Impact Report (3/27) https://cureSYNGAP1.org/IR24    PubMed is at 13 YTD, 321 in total (trending to 52+, but I’m not as confident) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc   Jillian McKee and CHOP team paper on SYNGAP1 now in Genetics in Medicine (https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668) but you can get the Preprint: https://www.medrxiv.org/content/10.1101/2024.10.02.24314452v1.full.pdf   This paper was built on Citizen Health data, remember to sign up/refresh, early and often: Citizen Health -  https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen   Bio-Repository and Roadshow Dates https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3   Thank you for the 15 glowing reviews of SRF on Great Nonprofits! https://www.cureSYNGAP1.org/GNP   VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 3,971 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1,311 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,427 Twitter https://twitter.com/cureSYNGAP1 - 46k 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 167 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

In this episode of A Shot in the Arm Podcast, hosts Yvette Raphael and Ben Plumley discuss the resilience of South Africa's healthcare system amidst U.S. aid cuts, particularly through USAID and PEPFAR. They highlight the devastating impacts on HIV treatment, TB care, and broader healthcare services due to the sudden cessation of funding. But the country is markedly more prepared than critics might have feared, to assume full responsibility for its infectious diseases strategies - including procurement and surveillance strategies that the US maintained control over in exchange for the aid. Their conversation extends to cover issues around mental health, future healthcare innovations like long-acting antiretrovirals, and the broader geopolitical implications of donor aid cuts.   00:00 Introduction and Setting the Scene 00:33 Impact of US Aid Cuts on South Africa 03:08 Healthcare Challenges and Government Response 07:04 The Role of Civil Society and Future Preparations 10:21 Consequences of Sudden Aid Withdrawal 14:17 Future of HIV Treatment and Advocacy 16:55 The Threat of Drug-Resistant TB 17:35 Government Investment in Healthcare 19:01 Mental Health Crisis Among Youth 19:41 Impact of USAID Funding Cuts 20:57 Soft Power and International Relations 22:37 South Africa's Self-Reliance 26:43 Addressing Racism and Emigration 32:42 Parting Thoughts and Optimism   Join the Conversation How do you see the future of global health unfolding? Share your thoughts in the comments! Subscribe & Stay Updated Listen on Spotify, Apple Podcasts, or your favorite podcast platform Watch on YouTube & subscribe for more in-depth global health discussions -  @shotarmpodcast⁩ 

Reimagining Pediatric Care with Imagine Pediatrics For families of medically complex kids, the healthcare system often feels broken—long hospital stays, insurance battles for basic needs, and constant caregiving without real support. But what if there was a better way? In this episode, I’m joined by Taylor Beery, co-founder of Imagine Pediatrics, Jody Copp, a full-time rare disease dad of two boys with Combined oxidative phosphorylation deficiency type 13 associated with a mutation in the PNPT1 gene and whose family has experienced firsthand the impact of their care model. Imagine Pediatrics is changing the game by providing 24/7, in-home, virtual-first medical care designed to keep kids safe at home—not in the hospital. He also has a rad foundation that we will chat about in a future episode: Raising Wheels Foundation If you are in Texas, Florida, and District of Columbia you have access to Imagine Pediatrics! We discuss: The problems with the current healthcare system for medically complex kids Why "safe days at home" should be the goal of pediatric care How Imagine Pediatrics partners with families rather than making them fight for care The economic case for home-based care and why insurance should want this model Walker’s legacy— how Taylor’s son inspired a movement to improve pediatric healthcare Kids Join the Fight Listen now & share with families who need this

In this podcast episode, host Karen engages with Cheryl Field, an expert in nursing informatics, to discuss the integration of technology and artificial intelligence (AI) in healthcare. Cheryl shares her unconventional journey into nursing and emphasizes the critical role of nurses in developing and implementing technological solutions. She highlights the importance of nurses' involvement in creating effective AI models and stresses the need for responsible AI use. Cheryl encourages nurses to actively participate in technological advancements, find their voice within the professional community, and embrace opportunities to shape the future of healthcare. The episode serves as a motivational call to action for nurses to lead in healthcare innovation. GET NURSING CES FOR THIS PODCLASS HERE https://rnegade.thinkific.com/courses/bedside-to-bytes Cheryl's Background in Nursing (00:02:18) Cheryl shares her unconventional journey into nursing and her passion for the field. The Role of Nursing Informatics (00:07:28) Explanation of nursing informatics and its importance in understanding clinical data and trends. Automating Clinical Processes (00:12:09) Discussion on how automation can streamline clinical documentation and improve patient care. Decision-Making in Nursing (00:14:59) The importance of data aggregation for making informed decisions in nursing management. The Creative Side of Technology (00:18:13) Cheryl reflects on her excitement for simplifying complex systems through technology. Understanding Congestive Heart Failure (00:19:51) Cheryl explains congestive heart failure using a metaphor about trash overflow in a house. Introduction to MDS (00:23:20) Cheryl introduces the Minimum Data Set, emphasizing its significance in skilled nursing care. Predicting Hospital Readmissions (00:26:10) Cheryl describes efforts to predict patient readmissions to hospitals using data analytics. Government Regulations on Readmissions (00:27:29) Cheryl explains how government penalties for readmissions impact nursing home operations and patient care. Pattern Recognition in Healthcare (00:31:20) Cheryl elaborates on how data patterns can predict patient needs and improve healthcare delivery. Machine Learning in Nursing (00:34:28) Cheryl explains how machine learning can refine predictions for patient care based on historical data. Evolution of AI in Healthcare (00:39:04) Cheryl discusses the historical context of AI technology and its growing relevance in healthcare. The Digital Shift in Healthcare (00:39:58) Discussion on the transition from paper to digital records in healthcare and its implications for data accessibility. Technology as Support, Not Replacement (00:44:17) Emphasis on technology's role in assisting healthcare professionals rather than replacing human interaction in patient care. AI and the Future of Nursing (00:45:19) Discussion on the potential of AI and robotics in nursing, and their limitations in replacing human nurses. Language Models and Nursing Communication (00:46:06) Explanation of how language models function and their challenges in understanding nursing communication styles. Reducing Administrative Burdens with AI (00:47:13) Potential for AI to alleviate repetitive tasks, allowing nurses to focus more on patient relationships. Fluid Workforce Management (00:57:49) Exploration of the need for flexible staffing solutions that prioritize nurse health and well-being for better outcomes. Excitement about AI in Nursing (01:03:47) Cheryl shares her enthusiasm for nurses' involvement in AI and its transformative potential in healthcare. Responsible AI in Healthcare (01:07:02) Explaining the need for ethical standards and regulations in AI applications in nursing. Nurses' Call to Action (01:20:04) Cheryl emphasizes the importance of nurses engaging in technology and innovation for successful healthcare outcomes. GET NURSING CE'S ... SEE OUR LIBRARY https://rnegade.thinkific.com/

Tuesday, March 18, 2025 - Week 12 SYNGAP1 & Unmet Need Preface  Let’s separate the notion of symptoms and disease description with lived caregiver and patient experience.  When you do this, charts about seizure progression and symptom list lose their sterile veneer and become horror stories.   This is critical because clinicians have become desensitized to patients' complaints and SYNGAP1 caregivers are tired of trying to explain to people how this disease hits you. SRD is slow moving, but suddenly changing and completely enervating. Medical: Existing treatments/polypharmacy is woefully inadequate & worsens as patients age:   Unrelenting intractable and worsening seizures cause side effects and require constant vigilance and partnership with Neuros Medication changes can cause issues such at rage Long-term side effects, e.g., bone health issues, from chronic medication use Drug-drug interactions (DDIs) are rarely addressed despite complex prescriptions from multiple specialists (Neuro, Psych, Primary, supplements, etc.) Some go to challenging non-pharma options: Not to mention tube feeding, keto diet, and neuro surgical options like VNS/CC as well as hip surgery for severe gait. Behavioral & ID: Our kids have enough physical ability to make behavior very challenging: Pain and behavior compounded by being non-verbal as they grow   Violence against family—bites and scratches   Violence against self, just sheer frustration Elopement & no sense of danger as a constant stress/burden  ABA can be helpful if the team is high caliber but often fails due to staffing, rigidity, insurance or lack of skill. Family: Toll on caregivers & family is a heavy cost that is rarely counted:   Almost all of our kids have severely disrupted sleep and that is a form of torture for the whole family.  Exhaustion from the diagnostic journey, assessments, and caregiving. Marriages fall apart under the pressure. Nobody can care for our kids—no respite, no support, schools fail. Parents are afraid to die, fearing what will happen to their children. Siblings are the last to be noticed but first affected.   Emphasize: The patients are very complex, the system isn’t working, families are in crisis, and they need real solutions.   Parents will travel:   We’ve had 100 patients go to CHOP from all over the USA, no cure here, just expertise. Example: the day I wrote this presentation I saw these 4 Facebook posts:  VHM at CHOP https://www.facebook.com/virginie.herradormcnamar/posts/pfbid02NbqkEsH84XtaoNc8qma5LsPEsC16NVGmzgq6fXRb3opP4rGJjP2WjGkMUGhbBTjpl B at CHCO https://www.facebook.com/beata.tarasiuk.56/posts/pfbid0YJ4AxBuxtzoeqHyHHtwP5tLR8jGgRjxzxkJ  CB at WCMC https://www.facebook.com/corey.baysden/posts/pfbid0c7RZtzm8hsB3k5mTGpmiXhaq7xzL9vLptfVn5FYZ8ZcFEuxqiYETHss7eUxpwo8Bl RR at UCSF https://www.facebook.com/permalink.php?story_fbid=pfbid02JvfR1G33tAg9XRZVXMidstcZYcEjzrqFeutvepYoPVb1RbjTEF1QCJj4kbDdScKQl&id=100088305909698    Episode 166 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Do you want to experience the healing power of family relationships and find hope and peace amidst the challenges of caregiving? In this episode we discuss a solution. Our special guest is Susan Landeis, author of "In Search of Rainbows: A Daughter’s Story of Loss, Hope and Redemption." Susan is an inspiring voice in the Alzheimer's and dementia caregiving community. Her memoir delves into her journey of caring for her mother with Lewy Body Dementia, while navigating a lifelong, complex, and estranged relationship. Susan's candid storytelling and experiences offer invaluable insights into the challenges of caregiving and the transformative power of forgiveness and healing within family dynamics. As a member of the AlzAuthors management team, Susan brings a wealth of knowledge and compassion to her work, providing support and understanding to those facing similar struggles. Her personal journey and dedication to raising awareness of dementia caregiving make her a compelling and relatable guest for today's episode. Estrangement within families can present additional challenges when taking on the role of caregiver. Navigating this complex dynamic requires open communication, patience, and a willingness to address underlying issues. Caregivers like Susan have found that caregiving can offer a pathway to reconciliation, understanding, and forgiveness, ultimately bridging the gap created by estrangement. In this episode, you will: ·      Discover effective coping strategies for Lewy Body Dementia, bringing peace of mind to both you and your loved one. ·      Learn how caregiving can become a catalyst for healing family relationships, fostering understanding and connection. ·      Find ways to navigate the challenges of estrangement while providing loving care for your family member. ·      Explore the powerful process of writing a memoir on dementia caregiving, capturing and preserving precious memories. ·      Gain valuable insights into managing senior health and well-being, empowering you to provide the best care possible. After the Podcast Buy “In Search of Rainbows” Read Susan’s AlzAuthors Post 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

Show NotesSRF’s CSO Kathryn Helde, PhD talks with Rainy about her son Joey - living in a group home, rock climbing, DIR therapy, genetic testing & reports, and advice on avoiding isolation. "He went to a group home. That took a long time to come to terms with emotionally. That's so much harder than anything else I've ever done."All episodes are available at ⁠cureSYNGAP1.org/Stories⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠.Connect with Kathryn:cso@cureSYNGAP1.orgKathryn's SRF bioConnect with ⁠⁠⁠⁠⁠⁠Rainy:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠rainy@cureSYNGAP1.org⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Rainy's SRF Bio⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠@Hope4theCure⁠⁠⁠⁠YouTube - ⁠⁠⁠⁠⁠@Hope4theCure⁠⁠⁠⁠⁠Facebook - ⁠⁠⁠⁠⁠Hope SelahMay⁠⁠⁠⁠SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 028⁠⁠⁠⁠SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠What is SYNGAP1-related disorders?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap Research Fund⁠⁠ - ⁠⁠⁠⁠⁠⁠⁠⁠⁠https://cureSYNGAP1.org/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 Resources for Newly Diagnosed Families⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Pre-register for the 2025 Cure SYNGAP1 Conference in Atlanta⁠⁠⁠⁠⁠⁠⁠Donate to SRF⁠⁠⁠⁠⁠⁠⁠⁠Get Involved with SRF⁠⁠⁠⁠⁠⁠⁠Volunteer with SRF⁠⁠⁠⁠⁠SRF Fundraising Resource Page⁠⁠⁠⁠⁠⁠SRF's State Ambassador Program⁠⁠⁠⁠Advocate for SYNGAP1⁠⁠⁠⁠⁠⁠Wednesday Warriors⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Supporting SYNGAP1 Siblings⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Addressing the Symptoms of SYNGAP1⁠⁠⁠⁠SYNGAP1 Studies and Trials:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 Studies⁠⁠⁠⁠⁠SYNGAP1 ProMMiS⁠⁠ – Prospective Multidisciplinary, Multisite Study for Clinical Excellence⁠⁠⁠Clinical Trials⁠⁠⁠⁠⁠⁠Frazier Eye Study⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Citizen Health⁠⁠⁠More Links:Heather Mefford, MD, PhD⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Sprint4Syngap 2025⁠⁠⁠ (⁠⁠donation page⁠⁠ and ⁠⁠resource guide⁠⁠)⁠⁠⁠⁠⁠⁠SRF Grants⁠⁠⁠⁠SRF Press Releases⁠⁠⁠⁠SRF's Medical Considerations Document⁠⁠Connect with SRF (@cureSYNGAP1):⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠YouTube⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠w/ MikeSynGAP Research Fund ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Apple Podcast Channel⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Family Zoom Meeting (bi-weekly on Wednesdays, 8PM ET): ⁠cureSYNGAP1.org/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417Comments: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ed@cureSYNGAP1.org⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 032 SYNGAP1 Stories, March 18, 2025#SYNGAP1StoriesJoey #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp32 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #CureSyngap1Conf #SYNGAP1Siblings #Caregiver #Elopement #Behavior #Communication #SelfHelp #Volunteer #Conf25 #RockClimbing #Hippotherapy #Therapy

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: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠paulina@curesyngap1.org⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Conéctate 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

Hosted by Ben Plumley & Professor Ambassador Eric Goosby Episode Summary In this episode of Global Health Diplomats, Ben Plumley and Eric Goosby take a hard look at the state of global health in the wake of major funding shifts and policy changes. With U.S. global health programs facing an uncertain future, can they be salvaged, or are we witnessing the dismantling of decades of progress? Ben and Eric discuss: The impact of U.S. policy changes on PEPFAR, USAID, and global health funding The realities of restarting health programs amid political roadblocks How countries are shifting towards self-sufficiency in health systems Lessons learned from HIV programs pivoting to COVID-19 responses The role of European and global players—can they fill the funding gap? The future of long-acting HIV treatments and barriers to adoption The ethics of global health governance—are programs being abandoned? The human cost of these decisions on communities and health professionals This episode is a must-listen for anyone engaged in global health, policy advocacy, and public health strategy. Timestamps for Key Moments 00:00 - Welcome & opening remarks: Ben and Eric set the stage for a critical conversation 00:38 - Is global health dead? A frank discussion on where things stand 02:31 - U.S. policy shifts & the fallout for global health programs 07:12 - Can shuttered programs be restarted? The logistical and ethical challenges 13:52 - Global health self-sufficiency: Are countries ready to take control? 17:23 - Can Europe or others step up? The feasibility of alternative funding sources 22:19 - What national programs must prioritize to survive funding cuts 26:29 - Procurement & supply chain challenges—what's at risk? 27:52 - Surveillance & monitoring—a critical piece of the puzzle 29:34 - Long-acting HIV treatments—revolutionary but at risk 32:37 - The politics of health funding—will programs be forced to regress? 36:32 - Clinical guidelines vs. financial and political realities—who decides? 37:55 - Key populations at risk: Why marginalized communities may suffer the most 40:02 - Beyond government funding: Can faith-based organizations & business leaders help? 41:06 - The personal toll on health professionals: How this crisis is affecting those in the field 44:32 - Global solidarity under threat: How shifting geopolitics impact health 47:16 - What happens next? Ben and Eric’s final reflections on the way forward Join the Conversation How do you see the future of global health unfolding? Share your thoughts in the comments! Subscribe & Stay Updated - Listen on Spotify, Apple Podcasts, or your favorite podcast platform - Watch on YouTube & subscribe for more in-depth global health discussions Follow Us YouTube: @shotarmpodcast  

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

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

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.

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 syngap-study@beacon.bio 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

As caregivers, we give everything to our kids—but where does that leave us? Burnt out, exhausted, and running on fumes. If you’ve ever felt like you don’t even know where to start when it comes to your own health, this episode is for you. I’m talking with Fraser Bridgeman, a fellow CTNNB1 mom and a functional integrative health practitioner, about the small but powerful changes we can make to support our own well-being. Fraser understands the unique challenges rare disease caregivers face—chronic stress, poor sleep, inflammation, and running on adrenaline for years at a time. She’s sharing practical, realistic ways to prioritize your health so you can show up for your child without running yourself into the ground. In this episode, we discuss: The most common health issues caregivers face (and how stress affects the gut, sleep, and hormones) How to make small, sustainable changes—even when you’re overwhelmed Easy food swaps to support energy, gut health, and stress resilience Practical ways to improve sleep and manage cortisol levels How movement, breathwork, and mindfulness can help regulate a taxed nervous system The mindset shift that will help you prioritize your own health without guilt Listen now and take the first step toward caring for yourself—because you matter, too. Follow Fraser on Instagram Fraser's Integrative Health Website

Connection is key in dementia care. Discover the transformative power of arts engagement for people living with dementia in this inspiring conversation with Mary Crescenzo, author of “The Planet Alzheimer’s Guide: 8 Ways the Arts Can Transform the Life of Your Loved One and Your Own.” In this heartfelt episode, a replay of an Aging & Amazing Books & Chit Chat discussion, Mary shares her decades of experience using various art forms to connect with and enrich the lives of people living with cognitive decline. From her early days as an art teacher to becoming a pioneering voice in arts engagement for dementia care, Mary offers practical, accessible ways to bring creativity into caregiving. You’ll learn: Simple ways to incorporate music, visual arts, movement, and storytelling into daily careHow creative expression can bridge communication gapsThe importance of intergenerational engagement through artSelf-care strategies for caregivers through creative writingWays to implement arts activities in both home and facility settings Mary’s Key Messages for Caregivers: Everyone has innate creative abilitiesArt activities don’t require expensive materials or special trainingFocus on the present moment rather than past relationshipsCelebrate and display creative worksDon’t give up if first attempts aren’t successful Quote: “Art brings joy into the darkness of this disease.” - Mary Crescenzo After the Podcast Download Mary's Tip Sheet: 7 Tips for Connection and Communication through the Arts Get the book: The Planet Alzheimer's Guide by Mary Crescenzo Note: We are an Amazon Associate and may receive a small commission on book sales at no cost to you or the author. Read her AlzAuthors Blog Catch the Dementia & the Arts Podcast Episode Follow Mary Listen to her co-hosted show: Dementia and the Arts on Alzheimer's Speaks Resources mentioned: Mary's Caregiver Tip Sheet: “8 Ways to Use Arts for Engagement”Learn more about Mary’s play "Planet A" and the inner world of Alzheimer’s: Remember: You don’t need to be an artist to engage in creative activities with your loved one. As Mary says, creativity is an innate human ability that can bring connection and joy to the dementia journey. 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. Meet the Moderators Marianne Sciucco Christy Byrne Yates Support AlzAuthors 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

Show NotesWe're back with a double interview. Chelsey Navarro, SRF's Science Writer, and Anthony Navarro, SRF's Resource Mobilization Director in charge of fundraising, talk with Rainy about grieving after the diagnosis, finding SRF, volunteering, and reaching out to others to expand your community of support. All episodes are available at cureSYNGAP1.org/Stories⁠⁠⁠⁠⁠⁠⁠⁠⁠.Connect with Chelsey and Anthony:anthony@cureSYNGAP1.org⁠⁠⁠⁠chelsey@cureSYNGAP1.org⁠⁠⁠⁠⁠Chelsey's SRF bio⁠⁠⁠⁠Anthony's SRF bio⁠⁠LabNomads⁠ and ⁠Traveling with Special Needs Blogs⁠Connect with ⁠⁠⁠⁠⁠⁠Rainy:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠rainy@cureSYNGAP1.org⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Rainy's SRF Bio⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠@Hope4theCure⁠⁠⁠YouTube - ⁠⁠⁠⁠@Hope4theCure⁠⁠⁠⁠Facebook - ⁠⁠⁠⁠Hope SelahMay⁠⁠⁠SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 028⁠⁠⁠SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠What is SYNGAP1-related disorders?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap Research Fund⁠⁠ - ⁠⁠⁠⁠⁠⁠⁠⁠https://cureSYNGAP1.org/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 Resources for Newly Diagnosed Families⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Pre-register for the 2025 Cure SYNGAP1 Conference in Atlanta⁠⁠⁠⁠⁠Donate to SRF⁠⁠⁠⁠⁠⁠Get Involved with SRF⁠⁠⁠⁠⁠Volunteer with SRF⁠⁠⁠SRF Fundraising Resource Page⁠⁠⁠⁠SRF's State Ambassador Program⁠⁠⁠⁠⁠⁠⁠⁠Wednesday Warriors⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Supporting SYNGAP1 Siblings⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Addressing the Symptoms of SYNGAP1⁠⁠⁠SYNGAP1 Studies and Trials:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 Studies⁠⁠⁠SYNGAP1 ProMMiS⁠ – Prospective Multidisciplinary, Multisite Study for Clinical Excellence⁠⁠Clinical Trials⁠⁠⁠⁠Frazier Eye Study⁠⁠⁠⁠⁠⁠⁠Citizen Health⁠⁠Adults with SYNGAP1 Study⁠Hispanic Phenotype Study with CHOPMore Links:⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Sprint4Syngap 2025⁠⁠ (⁠donation page⁠ and ⁠resource guide⁠)⁠⁠⁠SRF Grants⁠⁠SRF Press Releases⁠⁠SRF's Medical Considerations Document⁠TSA Cares⁠⁠Becker's Muscular Dystrophy⁠Connect with SRF (@cureSYNGAP1):⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠YouTube⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠w/ MikeSynGAP Research Fund ⁠⁠⁠⁠⁠⁠⁠⁠⁠Apple Podcast Channel⁠⁠⁠⁠⁠⁠⁠⁠⁠Family Zoom Meeting (bi-weekly on Wednesdays, 8PM ET): cureSYNGAP1.org/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417Comments: ⁠⁠⁠⁠⁠⁠⁠⁠⁠ed@curesyngap1.org⁠⁠⁠⁠⁠⁠⁠⁠⁠Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 031 SYNGAP1 Stories, February 18, 2025#SYNGAP1StoriesEmmy #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp31 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #CureSyngap1Conf #SYNGAP1Siblings #Caregiver #Elopement #Behavior #Communication #SelfHelp #Volunteer #Conf25

In this RNegade podclass episode, Karen DiMarco speaks with Dawn Westrum, a nutritionist and extreme athlete, discussing unconventional health practices. Dawn shares her journey from traditional nutrition to muscle testing and energy healing, emphasizing the importance of listening to the body. She recounts her experiences with extreme sports and how emotional release has improved her physical performance. Dawn explains her unique approach, including the use of an Oligoscan device for nutrient analysis and the significance of diet and micronutrients. The episode highlights the interconnectedness of physical and emotional health, encouraging listeners to explore holistic methods for well-being. GET NURSING CES FOR THIS EPISODE HERE https://rnegade.thinkific.com/courses/ageless-athlete-how-this-health-guru-is-improving-health-and-defying-aging Introduction (00:00:24) Dawn shares her journey outside the medical system, her approach to health and her long-standing interest in nutrition and self-education. Joining the Army (00:03:04) Dawn explains her decision to join the army and its impact on her life. First Marathon Experience (00:03:17) Dawn describes her first marathon experience and the joy of running. Understanding Personal Motivation (00:05:19) Discussion on how personal history influences motivations in extreme sports. Realization of Healthy Outlets (00:07:20) Dawn shares insights on using running as a healthy outlet rather than an escape. She explains how her understanding of running has evolved into a healthier relationship with the activity. Finding God and Healing (00:11:28) Dawn discusses her past struggles with spirituality and her journey back to faith. Extreme Sports Experiences (00:12:14) Dawn describes her experience as a Red Bull paraglider pilot and adventure racing and her quest to find physical limits through extreme sports and the search for meaning beyond physical accomplishments. Discovering the Emotion Code (00:17:44) Dawn recounts how she came across the Emotion Code and its impact on her practice. She reveals her unexpected journey into muscle testing and its benefits for clients. Understanding Muscle Testing Mechanics (00:19:49) Dawn explains the mechanics of muscle testing and how it reveals truths about the body. Dawn emphasizes how muscle testing uncovers what the body inherently knows it needs. Discovery of BPC 157 (00:35:12) Dawn describes how discovering BPC 157 transformed her health and prompted a career change. Age and Performance (00:39:25) Discussion on how aging can be reversed through proper nutrition and fitness. Emotion Code Certification (00:40:01) Dawn explains her experience with the Emotion Code and releasing trapped emotions. And, a surprising improvement in climbing performance after emotional detoxification. Aging and Vitality (00:42:10) Exploration of how health can improve at any age through nutrient restoration. Discussion on aging as a decline in micronutrients and how to reverse it. Energy Circuits in the Body (00:45:15) Dawn explains the concept of energy circuits and their impact on health. Factors Affecting Energy (00:47:19) Overview of five reasons for low energy, including trapped emotions and toxins. Scalar Energy and Health (00:55:15) Discussion on scalar energy and its potential effects on health and wellness. Understanding Unorthodox Practices (00:55:32) Discussion on the unique and unorthodox approach to health and nutrition. Introduction of the Oligoscan device for comprehensive health analysis. Future Plans and Ongoing Learning (01:03:01) Excitement about future collaborations and continued learning in health practices. Learn more about Dawn Westrum @ www.vigeohealth.com COMING TO RNEGADE FEBRUARY 2025, DAWN'S COURSES ON FOLIC ACID, MUSCLE TESTING & VOLTAGE. Follow Us IG @ RNegade.pro FB @ RNegade.pro TikTok @ RNegade.pro LinkedIn @ RNegade.pro YouTube ‪@rnegade_pro‬