When an architect’s life took an unexpected turn with her daughter’s rare disease diagnosis, she combined her professional expertise and caregiving journey to create a Beginner’s Guide to Accessible Home Design. In this episode of The Rare Advocates, she shares how her experience as a mom and architect inspired practical, affordable, and inclusive design tips to transform homes for families navigating rare diseases and disabilities. ✨ What You’ll Learn: Simple, actionable tips for making your home more accessible design principles for rare disease and disability needs. Her journey from architect to caregiver and advocate for how inclusive design can enhance independence and comfort

✨ Link to Guide: https://agsaa.org/accessibility-guide 🎧 Listen now for expert advice and heartfelt insights that empower caregivers to create accessible spaces! 💚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 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

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

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

🌟 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

👶 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

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