The Rare Advocates

Designing Accessibility: How an Architect Mom Built a Beginner’s Guide for Rare Disease Caregivers

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 [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

Breaking Barriers: A Mother's Journey to Inclusive Playgrounds and Disability Advocacy

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

Navigating Aicardi Goutières Syndrome: A Mother's Journey Through Diagnosis, Care, and Grief

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

Bridging Hope: A Pediatric Rare Disease Geneticist's Transition from Clinic to Biotech Frontier

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

Unlocking Insights: Understanding and Awareness on Cerebral/Cortical Visual Impairment (CVI Now)

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