The Rare Advocates: Recent Episodes
Aicardi Goutieres Syndrome Advocacy Association (AGSAA)
Welcome to a patient worthy, rare disease podcast for all! We are the rare disease advocates, part of the Aicardi Goutieres Syndrome Advocacy Association (AGSAA). This non-profit works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS). We'll regularly invite families, scientists, therapists, experts, clinicians, etc for short conversations about topics relevant to the AGS community.
Join us as we delve into the inspiring journey of Stephanie, a devoted mother and caregiver, as she shares her experiences raising a daughter with a rare disease. Discover how Stephanie's passion for inclusivity led her to become a prominent advocate for accessible playgrounds, challenging norms, and driving change. Gain insights into her strategies for influencing facilities and parks to prioritize inclusivity, and learn how you can support her mission to create more inclusive spaces for children with disabilities. Don't miss this empowering episode of our Rare Disease and Disability Podcast!💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS).💙AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome using our learned experience and honoring those before us.💚AGSAA is a 501c nonprofit foundation 💙Our Mission: Rescuing Potential. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families.💚 Socials: @agsadvocacy on all socials 💙 Podcast: https://anchor.fm/agsadvocacy/ #aicardigoutieressyndrome #disabilitiesawareness #raredisease🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates 🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx 🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092 🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA #aicardigoutieres #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia #rarediseaseday
Join us as we sit down with Megan, a courageous mother and founder of the Aicardi Goutières Syndrome Advocacy Association, as she shares her heartfelt journey. From the challenges of navigating the medical system to finding hope in the midst of adversity, Megan opens up about her experiences raising a child with AGS and coping with the profound loss of her daughter. Discover the strength, resilience, and invaluable insights she offers to families facing rare diseases and grief. Tune in to gain a deeper understanding of AGS and find inspiration in Megan's unwavering advocacy and enduring love.💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS).💙AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome using our learned experience and honoring those before us.💚AGSAA is a 501c nonprofit foundation 💙Our Mission: Rescuing Potential. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families.💚 Socials: @agsadvocacy on all socials 💙 Podcast: https://anchor.fm/agsadvocacy/ #aicardigoutieressyndrome #disabilitiesawareness #raredisease🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates 🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx 🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092 🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA #aicardigoutieres #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia #rarediseaseday
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Explore the transformative journey of a Pediatric Rare Disease Geneticist, Cynthia Gubbels, MD, PhD, as they transition from the clinical realm of Boston Children's Hospital to the cutting-edge landscape of biotech innovation. Join us on Rare Advocates as we uncover the passion, perseverance, and promise driving this trailblazer's quest to unlock the mysteries of rare syndromes. Gain insights into the intersection of research, clinical practice, and biotech advancement, offering a beacon of hope to families, caregivers, and future medical leaders. Tune in for a compelling narrative of resilience and progress in pursuing rare disease solutions.https://www.linkedin.com/in/cynthiagubbels/ 💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS).💙AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome using our learned experience and honoring those before us.💚AGSAA is a 501c nonprofit foundation 💙Our Mission: Rescuing Potential. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families.💚 Socials: @agsadvocacy on all socials 💙 Podcast: https://anchor.fm/agsadvocacy/ #aicardigoutieressyndrome #disabilitiesawareness #raredisease🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates 🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx 🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092 🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA #aicardigoutieres #rarediseaseday #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia
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Join us for an enlightening conversation on Cerebral/Cortical Visual Impairment (CVI) in the context of rare diseases with our special guest, Rachel G. Bennett, the esteemed Director of CVI Now Services at Perkins School of Blind. As we delve into the unique challenges faced by individuals with rare diseases and CVI, Rachel shares her expertise, personal anecdotes, and innovative approaches to support those navigating this complex intersection.Tune in as we explore breakthroughs, debunk misconceptions, and envision a brighter future for rare disease families, disability advocates, researchers, and healthcare professionals. This episode is a must-listen for anyone seeking valuable insights and practical strategies in the realm of #CVI and rare diseases.🔍 Key Topics: CVI, Rare Diseases, Disability Advocacy, Caregiving, Innovation, Collaboration👥 Guest: Rachel G. Bennett, Director of CVI Services, Perkins School of Blind💚 https://www.instagram.com/cvinow/ 💙 CVInow.org🌐 Connect: Follow us on social media for more updates and engage in the conversation! Don't forget to subscribe, share, and leave a review wherever you listen to podcasts. Your support means the world to us💚 Socials: @agsadvocacy on all socials 💙 Podcast: https://anchor.fm/agsadvocacy/ 💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS).💙AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome using our learned experience and honoring those before us.💚AGSAA is a 501c nonprofit foundation 💙Our Mission: Rescuing Potential. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families.#aicardigoutieressyndrome #disabilitiesawareness #raredisease🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates 🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx 🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092 🎧 Google Podcast: https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9jOWVmMDc1OC9wb2RjYXN0L3Jzcw?sa=X&ved=2ahUKEwihnZ-usKL7AhWupWoFHc9AC3QQ9sEGegQIARAC 🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA #aicardigoutieres #rarediseaseday #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia
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🌟 Join us for a thought-provoking conversation on The Rare Advocates Podcast, where I sit down with Jennifer Siedman, Director of Community Engagement at Courageous Parents Network (CPN) and NeuroJourney.org. In this episode, we delve into the invaluable resources provided by CPN and NeuroJourney, empowering caregivers to navigate the complexities of caring for children with severe neurological impairments.🤝 Discover how Courageous Parents Network, a nonprofit organization, offers curated digital resources and supportive programming to guide caregivers through the illness journey with compassion and community. Explore NeuroJourney.org, an educational platform that addresses the multifaceted medical, social, and emotional needs of families and clinicians supporting children with severe neurological impairments.💡 Gain insights into topics such as anticipatory grief and palliative care as we explore the interconnected experiences of caregivers on this challenging journey. Whether you're a caregiver seeking support or a healthcare professional striving to enhance patient care, this episode offers invaluable perspectives and resources.🔗 Listen now to gain a deeper understanding of Courageous Parents Network and NeuroJourney, and how they are shaping the landscape of caregiver support and pediatric care: The Rare Advocates Podcast - Jennifer Siedman on CPN and NeuroJourney#PalliativeCare #AnticipatoryGrief #CaregiverSupport #PediatricCare #NeurologicalImpairments #CourageousParentNetwork #NeuroJourney #RareAdvocates #HealthcarePodcast 🌈💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS).💙AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome using our learned experience and honoring those before us.💚AGSAA is a 501c nonprofit foundation 💙Our Mission: Rescuing Potential. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families.💚 Socials: @agsadvocacy on all socials 💙 Podcast: https://anchor.fm/agsadvocacy/ #aicardigoutieressyndrome #disabilitiesawareness #raredisease🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates 🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx 🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092 🎧 Google Podcast: https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9jOWVmMDc1OC9wb2RjYXN0L3Jzcw?sa=X&ved=2ahUKEwihnZ-usKL7AhWupWoFHc9AC3QQ9sEGegQIARAC 🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA #aicardigoutieres #rarediseaseday #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia
https://courageousparentsnetwork.org/
Courageous Parents Network (CPN) is a nonprofit organization that provides curated digital resources and programming to help caregivers navigate the illness journey with support and a sense of community.
https://neurojourney.org/NeuroJourney (NeuroJourney.org) is an educational resource for families and clinicians navigating the ever-evolving needs of a child with severe neurological impairment (SNI). It explores the interconnected medical considerations in phases as they might occur in the illness journey, and social and emotional experiences of family and other caregivers
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👶 Embark on a crucial journey into the world of newborn screening for leukodystrophies with Lesa Brackbill, an expert from the Newborn Screening Network. In this enlightening episode of the Rare Advocates Podcast, we unravel the significance of early detection, explore cutting-edge screening technologies, and gain insights from the dedicated experts shaping the future of pediatric health.🔍 Discover why newborn screening is a cornerstone in the early identification of rare genetic disorders, particularly leukodystrophies. Lesa guides us through the intricacies of neonatal care, highlighting the transformative impact of timely intervention and the role of advanced technologies in achieving brighter outcomes for affected infants.🌐 Join us as we delve into the heart of neonatal care, demystifying the complexities of newborn screening. Whether you're a parent, healthcare professional, or someone passionate about pediatric health, this episode provides valuable knowledge and perspective on how newborn screening shapes the landscape of pediatric care.🎙️ Tune in now to gain a deeper understanding of the critical role newborn screening plays in ensuring a healthier future for our little ones https://youtu.be/nuf3iQLM3eU
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In this episode of the Rare Advocates Podcast, I sit down with Jonah to learn his AGS story. We learn more about when he was diagnosed, what his family went through, and what it is like living with Aicardi Goutieres Syndrome. We talk about the wide spectrum of symptoms, his point of view, and his personal motto.💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS).💙AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome using our learned experience and honoring those before us.💚AGSAA is a 501c nonprofit foundation 💙Our Mission: Rescuing Potential. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families.💚 Socials: @agsadvocacy on all socials 💙 Podcast: https://anchor.fm/agsadvocacy/ #aicardigoutieressyndrome #disabilitiesawareness #raredisease🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates 🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx 🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092 🎧 Google Podcast: https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9jOWVmMDc1OC9wb2RjYXN0L3Jzcw?sa=X&ved=2ahUKEwihnZ-usKL7AhWupWoFHc9AC3QQ9sEGegQIARAC 🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA #aicardigoutieres #rarediseaseday #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia
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What is special education? When does special education begin? How does one apply for special education? Can one graduate from special education? In this episode, we sit down with Dr. Valerie Burnett and discuss what all parents need to know about Special Education, from Early Childhood Intervention to entering school and evaluations. Related Links:https://www.cdc.gov/ncbddd/actearly/parents/states.html#textlinkswww.linkedin.com/in/valerie-burnett-ed-d-65578410💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS).💙AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome using our learned experience and honoring those before us.💚AGSAA is a 501c nonprofit foundation 💙Our Mission: Rescuing Potential. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families.💚 Socials: @agsadvocacy on all socials 💙 Podcast: https://anchor.fm/agsadvocacy/ #aicardigoutieressyndrome #disabilitiesawareness #raredisease🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates 🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx 🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092 🎧 Google Podcast: https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9jOWVmMDc1OC9wb2RjYXN0L3Jzcw?sa=X&ved=2ahUKEwihnZ-usKL7AhWupWoFHc9AC3QQ9sEGegQIARAC 🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA #aicardigoutieres #rarediseaseday #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia
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🌟 Join us on The Rare Advocates Podcast as we delve into the inspiring journey of Lauren Lowery, a devoted mother navigating the challenges of Aicardi Goutieres Syndrome. In this heartfelt episode, Lauren generously shares her experiences as a caregiver, shedding light on the highs and lows, joys and triumphs.
🤝 As a dedicated advocate, Lauren not only cares for her family but also spearheads a mission to support fellow moms and caregivers facing similar situations. Discover how she balances the demands of family life, entrepreneurship, and her unwavering commitment to making a positive impact.
🌈 This episode is a beacon of hope for those navigating the complexities of caregiving. Join us in exploring the resilience, love, and strength that define Lauren's journey. Whether you're a caregiver seeking solidarity or someone eager to understand the intricacies of Aicardi Goutieres Syndrome, this conversation is a must-listen
Lauren's Socials: https://www.instagram.com/lauren_nia_lowery/
https://m.facebook.com/p/Overcome-the-Overwhelm-for-Special-Needs-Moms-100065114523894/
lowerylifecoaching.com
RareDisease #CaregiverJourney #AicardiGoutieresSyndrome #Empowerment #PodcastInterview #RareAdvocates #FamilyLove 💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS).💙AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome using our learned experience and honoring those before us.💚AGSAA is a 501c nonprofit foundation 💙Our Mission: Rescuing Potential. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families.💚 Socials: @agsadvocacy on all socials 💙 Podcast: https://anchor.fm/agsadvocacy/ #aicardigoutieressyndrome #disabilitiesawareness #raredisease🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates 🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx 🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092 🎧 Google Podcast: https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9jOWVmMDc1OC9wb2RjYXN0L3Jzcw?sa=X&ved=2ahUKEwihnZ-usKL7AhWupWoFHc9AC3QQ9sEGegQIARAC 🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA #aicardigoutieres #rarediseaseday #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia
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In this heartwarming episode of The Rare Advocates, we sit down with Ashley Matura, the mother of an incredible 7-year-old named Ryan. Ryan has been diagnosed with Aicardi Goutieres Syndrome, a rare genetic disorder, and faces various challenges and disabilities. Join us as we delve into their inspiring journey and explore the world of Augmentative and Alternative Communication (AAC).🌟
Topics Covered in this Episode:
🤝 Introduction to AAC: What is Augmentative and Alternative Communication, and how it has become an invaluable tool for individuals like Ryan.
🤔 Who Qualifies for AAC: Learn who can benefit from AAC and how it can be tailored to individual needs.
📚 School and AAC: Discover how AAC has enhanced Ryan's educational experience and its positive impact on his learning journey.
🌈 Best Etiquette: Ashley shares insights on interacting respectfully with someone using AAC, promoting inclusivity and understanding.💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS).💙AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome using our learned experience and honoring those before us.💚AGSAA is a 501c nonprofit foundation 💙Our Mission: Rescuing Potential. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families.💚 Socials: @agsadvocacy on all socials 💙 Podcast: https://anchor.fm/agsadvocacy/ #AAC #AicardiGoutieresSyndrome #Inclusivity #Podcast #Inspiration #Communication #Parenting #SpecialNeeds 🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates 🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx 🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092 🎧 Google Podcast: https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9jOWVmMDc1OC9wb2RjYXN0L3Jzcw?sa=X&ved=2ahUKEwihnZ-usKL7AhWupWoFHc9AC3QQ9sEGegQIARAC 🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA #aicardigoutieres #rarediseaseday #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia
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In this episode of the Rare Advocates Podcast, I sit down with Jonah to learn his AGS story. We learn more about when he was diagnosed, what his family went through, and what it is like living with Aicardi Goutieres Syndrome. We talk about the wide spectrum of symptoms, his point of view, and his personal motto.💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS).💙AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome using our learned experience and honoring those before us.💚AGSAA is a 501c nonprofit foundation 💙Our Mission: Rescuing Potential. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families.💚 Socials: @agsadvocacy on all socials 💙 Podcast: https://anchor.fm/agsadvocacy/ #aicardigoutieressyndrome #disabilitiesawareness #raredisease🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates 🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx 🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092 🎧 Google Podcast: https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9jOWVmMDc1OC9wb2RjYXN0L3Jzcw?sa=X&ved=2ahUKEwihnZ-usKL7AhWupWoFHc9AC3QQ9sEGegQIARAC 🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA #aicardigoutieres #rarediseaseday #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia
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In this episode of the Rare Advocates Podcast, I sit down with James to understand how Mei was diagnosed and what his family went through when Mei wasdiagnosed with Aicardi Goutieres Syndrome. This leukodystrophy has impacted 3 members of the family. We talk about the wide spectrum of symptoms, how they were diagnosed as well as accessing treatment.
💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS).
💙AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome using our learned experience and honoring those before us.
💚AGSAA is a 501c nonprofit foundation
💙Our Mission: Rescuing Potential. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families.
💚 Socials: @agsadvocacy on all socials 💙 Podcast: https://anchor.fm/agsadvocacy/
aicardigoutieressyndrome #disabilitiesawareness #raredisease
🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates
🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx
🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092
🎧 Google Podcast: https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9jOWVmMDc1OC9wb2RjYXN0L3Jzcw?sa=X&ved=2ahUKEwihnZ-usKL7AhWupWoFHc9AC3QQ9sEGegQIARAC
🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA
aicardigoutieres #rarediseaseday #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia
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What is Aicardi Goutieres Syndrome? What treatment is out there? Meet Dr. Jonathan D. Santoro, MD - Medical Director, Neuroimmunology and Demyelinating Disorders Program and Attending Physician, Division of Neurology at Children's Hospital Los Angeles. Dr Santoro is a pediatric neurologist with special training in inflammatory and demyelinating disorders of the brain, spinal cord, and peripheral nervous system. Today we sit down and talk all things AGS, this is a great video to start learning about what Aicardi Goutieres syndrome is, the treatment available and tips on how to advocate better for your child.
Learn more about Dr Santoro here: https://www.chla.org/profile/jonathan-d-santoro-md
💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS). The Aicardi Goutieres Syndrome Advocacy Association (AGSAA) is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome. Everything we do reflects a sense of urgency to rescue our community's potential and preserve quality of life. We’re focused on accelerating research, providing timely emotional and educational outreach, and developing ever-evolving clinical care recommendations to affected families.
💚 501c nonprofit foundation
💙 https://agsaa.org/about-ags
💚 Socials: @agsadvocacy on all socials
💙 Podcast: https://anchor.fm/agsadvocacy/
🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates
🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx
🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092
🎧 Google Podcast: https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9jOWVmMDc1OC9wb2RjYXN0L3Jzcw?sa=X&ved=2ahUKEwihnZ-usKL7AhWupWoFHc9AC3QQ9sEGegQIARAC
🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA
raredisease #disabilitiesawareness #aicardigoutieressyndrome #aicardigoutieres #rarediseaseday #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia
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In this episode of the Rare Advocates Podcast, we talk about how Camille and Shawn's family is impacted by Aicardi Goutieres Syndrome. This leukodystrophy has impacted 3 members of the family. We talk about the wide spectrum of symptoms, how they were diagnosed as well as accessing treatment.
From the family: "We often run into problems getting the care our family needs because we are judged by how our kids and my husband look. AGS can be an invisible illness that results in a great deal of suffering which may not be obvious to the naked eye. Pictures and image can be deceiving. We are grateful our family is now truly living a happier healthier life due to Olumiant/Baricitinib treatment."
💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS). The Aicardi Goutieres Syndrome Advocacy Association (AGSAA) is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome. Everything we do reflects a sense of urgency to rescue our community's potential and preserve quality of life. We’re focused on accelerating research, providing timely emotional and educational outreach, and developing ever-evolving clinical care recommendations to affected families. 💚 501c nonprofit foundation
💙 https://agsaa.org/about-ags
💚 Socials: @agsadvocacy on all socials
💙 Podcast: https://anchor.fm/agsadvocacy/
🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates
🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx
🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092
🎧 Google Podcast: https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9jOWVmMDc1OC9wb2RjYXN0L3Jzcw?sa=X&ved=2ahUKEwihnZ-usKL7AhWupWoFHc9AC3QQ9sEGegQIARAC
🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA
raredisease #disabilitiesawareness #aicardigoutieressyndrome #aicardigoutieres #rarediseaseday #rarediseases #leukodystrophy
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This week, Dad advocate, Kyle, shares the story of handsome, Wyatt. Things didn't seem as complicated until they finally received Wyatt's diagnosis. With their lives changed by Aicardi-Goutieres Syndrome, they continue to advocate for Wyatt. In this podcast, we will talk about diagnosis, treatment and how he is doing presently. A special thanks to Kyle and his wife for taking time to speak to me and letting me meet Wyatt at the end of this conversation
📖 Episode Highlights:
0:00 Welcome AGS Allies and Caregivers
0:35 Thanks Ecamm live!
1:12 Join the Conversation
1:30 Wyatt's Story by Kyle, Dad Advocate
2:10 Aicardi-Goutieres Syndrome Diagnosis
11:45 Treatment
22:15 Acquiring JAK Inhibitors
28:30 How did you know the JAKi were working?
41:18 Final words and advise
48:35 Meet Wyatt with me
💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS). The Aicardi Goutieres Syndrome Advocacy Association (AGSAA) is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome. Everything we do reflects a sense of urgency to rescue our community's potential and preserve quality of life. We’re focused on accelerating research, providing timely emotional and educational outreach, and developing ever-evolving clinical care recommendations to affected families.
💚 501c nonprofit foundation
💙 https://agsaa.org/about-ags
💚 Socials: @agsadvocacy on all socials
💙 Podcast: https://anchor.fm/agsadvocacy/
🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates
🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx
🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092
🎧 Google Podcast: https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9jOWVmMDc1OC9wb2RjYXN0L3Jzcw?sa=X&ved=2ahUKEwihnZ-usKL7AhWupWoFHc9AC3QQ9sEGegQIARAC
🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA
rarediseases #aicardigoutieressyndrome #aicardigoutieres #disabilitiesawareness
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This week, Mom advocate, Annie, shares the story of Sam. Today, Sam is three and he is a super fun and sweet kid, who just started going to preschool thanks to his doctors, parent advocates and being able to receive JAK Inhibitors as part of his treatment. In this podcast, we will share Sam's story - we will talk about diagnosis, treatment and how she is doing presently. A special thanks to Annie for taking time to speak to me.
📖 Episode Highlights:
0:00 Welcome AGS Allies and Caregivers
0:54 Thanks ecamm live!
1:10 Join the Conversation
1:28 Annie joins the conversation
2:17 About Sam
2:52 Sam's treatment
3:48 Acquiring JAK Inhibitors
6:15 Insurance Denial
10:00 Getting Approval
11:15 Paying for the Treatment
13:50 Sam's current state
15:10 Words of Wisdom to Newly Diagnosed
16:47 Words of Wisdom to Others
18:38 Final Words/ Outro
💚The Aicardi Goutieres Syndrome Advocacy Association (AGSAA)works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS). This non-profit is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome. Everything we do reflects a sense of urgency to rescue our community's potential and preserve quality of life. We’re focused on accelerating research, providing timely emotional and educational outreach, and developing ever-evolving clinical care recommendations to affected families.
💚 501c nonprofit foundation
💙 https://agsaa.org/about-ags
💚 Socials: @agsadvocacy on all socials
💙 Podcast: https://anchor.fm/agsadvocacy/
aicardigoutieres #disabilitiesawareness #rarediseases #aicardigoutieressyndrome
Send in a voice message: https://anchor.fm/agsadvocacy/message
This week, Dad advocate, Patrick Winters, shares the story of the amazing, astounding Aurelia. Natalie and Patrick had a few kids: Max, Lennox, and Aurelia. Things were going pretty great until a rare disease threw them curveball. With their lives changed by Aicardi-Goutieres Syndrome, they find more meaning in love and family than ever before. In this podcast, we will share Auri's story - we will talk about diagnosis, treatment and how she is doing presently. A special thanks to Patrick for taking time to speak to me.
📖 Episode Highlights: 0:00 Welcome AGS Allies and Caregivers
- 0:35 Thanks ecamm live!
- 0:50 Join the Conversation
- 1:25 Patrick Winters joins the conversation
- 2:10 Symptoms
- 7:00 Arriving to the ER Hospital 1
- 2:00 AGS Diagnosis
- 20:00 "Dark Hallway - we couldn't get out"
- 23:00 Treatment - JAK Inhibitors
- 26:00 Cost and Insurance Denial
- 33:00 Reality of a caregiver
💙Connect with Patrick and join team Aurelia:
- Website// https://www.lovewinters.net/
- Instagram// https://www.instagram.com/astoundingaurelia/
💚The Aicardi Goutieres Syndrome Advocacy Association (AGSAA)works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS). This non-profit is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome. Everything we do reflects a sense of urgency to rescue our community's potential and preserve quality of life. We’re focused on accelerating research, providing timely emotional and educational outreach, and developing ever-evolving clinical care recommendations to affected families.
- 💚 501c nonprofit foundation
- 💙 https://agsaa.org/about-ags
- 💚 Socials: @agsadvocacy on all socials
- 💙 Podcast: https://anchor.fm/agsadvocacy/
aicardigoutieres #disabilitiesawareness #rarediseases #aicardigoutieressyndrome
Send in a voice message: https://anchor.fm/agsadvocacy/message
The Rare Advocates, S1 E1: We finally met at GLIA 2022
💚On today’s episode, our first podcast! Devon, Rafa, and Patrick finally met at the GLIA 2022 conference in Philadelphia (https://theglia.org/2022gliaconference). Patrick gave the opening remarks and welcome at the GLIA Advocacy Workshop, and the pair managed to make contact with scientists from Eli Lilly about our stalled clinical trial.
💙About the AGSAA
The Aicardi Goutieres Syndrome Advocacy Association (AGSAA) is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome. Everything we do reflects a sense of urgency to rescue our community's potential and preserve quality of life. We’re focused on accelerating research, providing timely emotional and educational outreach, and developing ever-evolving clinical care recommendations to affected families.
💙The AGSAA is a 501c nonprofit foundation
💙 https://agsaa.org/about-ags
💙Join the Conversation: @agsadvocacy on all socials
rarediseases #aicardigoutieressyndrome #aicardigoutieres #disabilitiesawareness
Send in a voice message: https://anchor.fm/agsadvocacy/message
The Rare Advocates, S1 E2: The Road to JAK Inhibition Treatment
💚On today’s episode we’re going to discuss the history of AGS’ only available treatment, JAK inhibition. We’re going to relate our understanding of how we got to our current situation with an imperfect but important treatment that has yet to achieve regulatory approval.
Our petition and your stories helped us get back to the table with the manufacturer of this medicine, Eli Lilly, but these were just the tip of the iceberg.
💙About the AGSAA
The Aicardi Goutieres Syndrome Advocacy Association (AGSAA) is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome. Everything we do reflects a sense of urgency to rescue our community's potential and preserve quality of life. We’re focused on accelerating research, providing timely emotional and educational outreach, and developing ever-evolving clinical care recommendations to affected families.
💙The AGSAA is a 501c nonprofit foundation
💙 https://agsaa.org/about-ags
💙Join the Conversation: @agsadvocacy on all socials
rarediseases #aicardigoutieressyndrome #aicardigoutieres #disabilitiesawareness
Send in a voice message: https://anchor.fm/agsadvocacy/message