The Rare Advocates

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 naviga...

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 prio...

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, resilien...

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 insig...

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 sup...

🌟 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 i...

👶 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. 🔍 Disc...

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 in...

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/state...

🌟 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...

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 Cov...

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 in...

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 Associ...

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...

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...

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 a...

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...

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 shar...

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. 💙Abo...

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...