The Rare Advocates

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.

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.

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.

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

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

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

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

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 

💙Connect with Patrick and join team Aurelia:  

💚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. 

#aicardigoutieres #disabilitiesawareness #rarediseases #aicardigoutieressyndrome

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

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