In this inspiring episode of Once Upon a Gene, I sit down with Samantha and Wesley Rogers, founders of Lottie’s Light Foundation, and proud parents of the incredible Lottie, who lives with a CERT1 mutation. The Rogers share the heartfelt story of how their journey with Lottie led to the creation of a foundation dedicated to empowering families, fostering connections, and encouraging others to find strength in the face of challenges.
We explore how their mission encourages fighting for meaningful friendships, dreaming new dreams, and discovering untapped capacity for love and purpose. This conversation will leave you uplifted, motivated, and ready to celebrate the light that shines in every rare journey.
Highlights:
The heartfelt origin story of Lottie’s Light Foundation.
Insights into Lottie’s personality, resilience, and the joy she brings to those around her.
How the foundation inspires families to fight for friendships and redefine their dreams.
Samantha and Wesley’s advice on finding your capacity in the hardest moments.
Tips for building friendships and community in the rare disease world.
A reminder of the power of community and the importance of showing up for Rare Disease Day.
Mentioned in This Episode:
Lottie’s Light Foundation Website
Rare Disease Day 2025 in San Diego – Event details coming soon!
Tips for building friendships and community in the rare disease world.
Call to Action:
Let’s spread the light! Share this episode with your friends and community to celebrate the resilience, strength, and brilliance of the rare disease journey. If you’re in San Diego or feeling adventurous, join us for Rare Disease Day 2025! Details coming soon.
As always, don’t forget to rate, review, and subscribe to Once Upon a Gene. Your support helps bring these powerful stories to more ears!
January 23, 2025
In this episode, I sit down with Natalie Richheimer, a genetic counselor at JScreen, to dig into the world of preconception and prenatal genetic testing. We explore the basics of carrier screening, how to interpret results, and the importance of genetic counseling for both new and experienced parents—especially those who already have a child with a rare disease. Natalie also sheds light on Variants of Uncertain Significance (VUS) and offers insight into talking with family members about genetic risks and results.
Throughout our chat, Natalie emphasizes that knowledge truly is power when it comes to family planning and navigating the complexities of genetic information. We discuss strategies for deciding between natural pregnancy, IVF with genetic screening, and other alternatives, helping you feel more confident and informed about your options.
Whether you’re just beginning your journey or seeking clarity in the midst of it, this episode offers valuable perspectives and heartfelt advice. Join us as we learn how to take charge of our genetic health and family-planning decisions with compassion and confidence.
Finally, don’t forget about the Once Upon a Gene Revival—an uplifting event designed to support, educate, and connect rare disease caregivers. Registration is open now on my website.
Links:
JScreen Genetic Testing Instagram
Once Upon A Gene Revival
January 16, 2025
RESEARCH UPDATE
There are 313 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 2 for 2025.
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded
Census = 1,530! https://cureSYNGAP1.org/Census, China was only 113, but now they are 246!
Check out these social posts on our https://cureSYNGAP1.org/SRFPaper
https://www.linkedin.com/posts/curesyngap1_syngapresearchfund-syngap1-curesyngap1-activity-7285038902300569602-XTGJ
https://x.com/cureSYNGAP1/status/1879272983077781804
https://fb.watch/x6KdWuLSA8/
STUDIES AND TRIALS ARE HAPPENING NOWhttps://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/
FUNDRAISING
Coast2Coast Challenge $359,280 Syngap.Fund/C2C
FUNDRAISE https://syngap.fund/FR
#Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025
VOLUNTEER SPOTLIGHT
Sara Driscoll - https://curesyngap1.org/team/volunteers/sara-driscoll/
CONFERENCE
Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25
VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
- 1,260 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,906 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 11,670 Twitter https://twitter.com/cureSYNGAP1
- 47k Insta https://www.instagram.com/curesyngap1/
- 464 TikTok https://www.tiktok.com/@curesyngap1
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 158 of #Syngap10
#CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1
January 15, 2025
Friday, January 10, 2025
NEWS
Census = 1,530! https://cureSYNGAP1.org/Census
https://cureSYNGAP1.org/NL42
All 2024 Science Conference videos (27 total) are now on our website and organized in this blog: https://cureSYNGAP1.org/SC24
Pods, listen to this: https://curesyngap1.org/podcasts/syngap1-stories/zoe-bailey/
AES
JW - Everybody who was at AES felt the temperature change. Things are getting real and timelines are moving faster. Our job now is to convince donors that we need more fuel in the tank so we don’t miss opportunities indicative in families that this is no longer one day, but this is soon and they need to get ready.
Veronica Hood: “Disease Modification is on the Horizon for DS” (and the rest of us!) https://dravetfoundation.org/spotlight-on-dravet-insights-from-the-2024-american-epilepsy-society-meeting/
STUDIES AND TRIALS ARE HAPPENING NOWRochester, Eye Tracking, Sleep. Please sign up via link below and listen this from Peter: https://x.com/phalliburton/status/1873581064788336988 then start signing up…https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/
FUNDRAISING
Coast2Coast Challenge $338,280 Syngap.Fund/C2C
FUNDRAISE https://syngap.fund/FR
Go Nikolas! $3,780 https://secure.givelively.org/donate/syngap-research-fund-incorporated/nikola-s-fundraiser
#Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025
VOLUNTEER SPOTLIGHT:
Ed Gabler https://curesyngap1.org/team/leadership-team/ed-gabler/
RESEARCH UPDATE
There are 312 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 0 for 2025.
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded
CONFERENCE
Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25
VOLUNTEER
https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
- 1,250 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,899 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 11,688 Twitter https://twitter.com/cureSYNGAP1
- 47k Insta https://www.instagram.com/curesyngap1/
- 464 TikTok https://www.tiktok.com/@curesyngap1
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 157 of #Syngap10
#CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1
January 10, 2025
Show Notes: Transforming Pediatric Rare Disease Research with Dr. Ramin Eskandari
In this episode, I’m joined by Dr. Ramin Eskandari, a pediatric neurosurgeon at MUSC who is revolutionizing rare disease research through his innovative work with biorepositories. Dr. Eskandari shares how his dedication to helping children and families has driven him to create a system that collects and preserves valuable CNS samples—residual materials that would otherwise be discarded. We discuss the incredible impact of these efforts on the future of rare disease therapeutics and how families can play an active role in advancing research.
Highlights:
Dr. Eskandari’s Path to Pediatric Neurosurgery
The Inspiration Behind the Biorepository Project
What Are Biorepositories and Why They Matter
Advocating for Residual Sample Collection
Overcoming Challenges in Setting Up a Biorepository
Data Sharing and Expanding Access
Scaling This Initiative to Other Institutions
Links:
Combined Brain
The Medical University of South Carolina
January 9, 2025
Links & Resources:
Follow Their Journey on Social Media
Facebook: Paxtons Pioneers
Instagram: Paxtons_Pioneers
KCAL News Story
Watch the in-depth feature on their family’s advocacy here: KCAL Rare Disease Coverage
January 2, 2025
Show Notes
Zoe Bailey, SRF's Volunteer Coordinator and State Ambassador and Advocacy Lead (California), talks about grieving after the diagnosis, finding SRF, volunteering, and the recent SYNGAP1 Conference in LA. She chats about the importance of self-care as well as Kaia's progress since starting a repurposed drug (Tanganil).
All episodes are available at Syngap.Fund/Stories.
Kaia's Warrior Story
Connect with Zoe:
[email protected]
Zoe's SRF bio
Zoe's Instagram
Zoe's Facebook
Connect with Rainy:
[email protected]
Rainy's SRF Bio
Instagram - @Hope4theCure
YouTube - @Hope4theCure
Facebook - Hope SelahMay
SYNGAP1 Stories Episode 028
SRF & SYNGAP1 Info:
What is SYNGAP1?
Syngap Research Fund - https://curesyngap1.org/
SYNGAP1 Resources for Newly Diagnosed Families
Pre-register for the 2025 Cure SYNGAP1 Conference in Atlanta
Donate to SRF
Get Involved with SRF
Volunteer with SRF
SRF's State Ambassador Program
Wednesday Warriors
Supporting SYNGAP1 Siblings
SYNGAP1 & Epilepsy
Why Getting a Genetic Diagnosis Matters
How to Get Free Genetic Testing
Special Needs Trusts
Addressing the Symptoms of SYNGAP1
Read more about the repurposed drug Tanganil
Sprint4Syngap 2025
Studies
Clinical Trials (Including Longboard's DEEp OCEAN Trial)
Frazier Eye Study
CHOP NHS
CHCO NHS
Citizen Health
Adults with SYNGAP1 Study
Hispanic Phenotype Study with CHOP
Science Day 2024 videos
CA IHSS (In-Home Supportive Services)
Dr. Chow's Latest SRF Grant Information
Connect with SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
YouTube
SYNGAP10 Weekly Video Podcast w/ Mike
SynGAP Research Fund Apple Podcast Channel
Family Zoom Meeting (Weekly on Wednesdays, 8PM ET):
cureSYNGAP1.org/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417
Comments:
[email protected]
Music: In the Forest... by Lesfm from Pixabay
Episode 030 SYNGAP1 Stories, December 31, 2024
#SYNGAP1StoriesKaia #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp30 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #SyngapConf #SYNGAP1Siblings #Caregiver #Elopement #Behavior #Communication #SelfHelp #Volunteer #Conf25
December 31, 2024
Paula Osorio es mamá de Ariana de 9 años quien fue diagnosticada con Syngap1 en el 2019. Desde Antofagasta, Chile, Paula nos invita a siempre dar la milla extra detrás de un diagnóstico, de no darse por vencido y celebrar cada logro en ese camino con Syngap1.
Bio de Merlina
Información sobre SRF & SYNGAP1:
Syngap Research Fund
Que es SYNGAP1?
Recursos en Español
Donaciones: https://syngap.fund/Donate
SYNGAP1 & Epilepsia
Porque es Importante Obtener un Diagnóstico Genético
Cómo Obtener Pruebas Genéticas Gratuitas en EEUU
Planificación Financiera Futura para las Personas con Discapacidades
Comentarios:
[email protected]
Conéctate con SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
SYNGAP10 Video Podcast Semanal con Mike
Episodio 24 Café SYNGAP1, Diciembre 19, 2024
#CafeSYNGAP1 #Syngap #SYNGAP1 #CureSYNGAP1 #CafeSYNGAP1Ariana #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP
December 19, 2024
Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We'll share inspiring stories from the community, life lessons we've learned and explore how glimmers light our way forward. Let's chase those glimmers together!
EPISODE HIGHLIGHTS:
Effie & Katie welcome guest Megan Gillet. Her daughter, Nellie, endures terminal Infantile MLD. Megan shares her unique journey of embracing life in all its vibrant complexity. Megan opens up about living with grief, disability, parenting challenges, fashion passions, crafting pursuits, and her love of nature—without confining herself to a single niche. She explains what it means to let life unfold authentically, finding the courage to sidestep society’s labels and expectations.
Through candid conversation, Megan reveals her family’s determination to savor each moment, knowing that some of the hardest challenges lie ahead. It’s a powerful reminder that truly living isn’t about fitting into a box, but rather about spilling beyond its edges, leaving a trail of color, hope, and hard-won joy. Tune in for an inspiring glimpse into a life that refuses simple definitions—and learn how you, too, can find beauty and meaning in every shade of your own journey.
December 19, 2024
Tuesday, December 17, 2024
Cure SYNGAP1 Conference - Resounding success https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Summary: http://www.draccon.com/dracaena-report/2024aes
A few comments:
https://www.linkedin.com/posts/richardnovak_clinical-rare-activity-7270806450090786816-m0OV
https://www.linkedin.com/posts/haley-tokars-1b2b38209_i-had-the-privilege-of-attending-my-first-activity-7272056324090159104-xFSZ
https://www.linkedin.com/posts/citizen-health-inc_aes2024-rareasone-activity-7270694148825845760-AIzF
https://www.linkedin.com/posts/graglia_syngap-dreem-eeg-activity-7271993151131660288-GESyhttps://www.linkedin.com/posts/praxis-precision-medicines-inc_epilepsy-aes2024-ugcPost-7273392536130355200-x2pqhttps://www.linkedin.com/posts/syngap1-argentina-382156240_por-tercer-a%C3%B1o-consecutivo-syngap-argentina-activity-7271911668522098688-JlrW
https://www.linkedin.com/posts/stoke-therapeutics_aes2024-epilepsy-activity-7273445932107538433-akYf
Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25,
https://investor.stoketherapeutics.com/events/event-details/understanding-dravet-syndrome-unmet-need-and-potential-disease-modification
STUDIES AND TRIALS ARE HAPPENING NOW - https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/
Two trials to consider
https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25
https://deepdeestudy.com/ list of sites: NJ & FL
BONES
https://youtu.be/RhaJnruZCzk?si=bnPtYPsRhOChfsH0
https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/
FUNDRAISING
Coast2Coast Challenge $207,974 Syngap.Fund/C2C
Join my team! https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge
FUNDRAISE https://syngap.fund/FR
CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/
VOLUNTEER SPOTLIGHT:
Stacey Miller https://curesyngap1.org/team/leadership-team/stacey-miller/
Laura Bermingham of SLC6A1 https://curesyngap1.org/team/volunteers/laura-birmingham/
RESEARCH UPDATE
There are 310 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded
Latest are from Willsey & Frazier.
Willsey: https://www.biorxiv.org/content/10.1101/2024.12.05.626924v1
Frazier: https://onlinelibrary.wiley.com/doi/full/10.1002/aur.3290
VOLUNTEER
https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
- 1,240 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,883 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 11,739 Twitter https://twitter.com/cureSYNGAP1
- 47k Insta https://www.instagram.com/curesyngap1/
- 464 TikTok https://www.tiktok.com/@curesyngap1
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 156 of #Syngap10
#CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1
December 18, 2024
Dear Friends,
The holidays can be a beautiful time of connection, joy, and celebration—but for caregivers, it can also be a season that amplifies the weight we carry every day. The expectations, the comparisons, the logistics of making life work for our kids—it all feels louder somehow.
This episode is my friendship letter to you, my fellow caregivers, during this holiday season. It’s for the days when the to-do lists are endless, the appointments keep coming, and the social invitations feel more isolating than joyful. It’s for the moments when you catch yourself scrolling through social media, comparing your life to others, and questioning if you’re doing enough—or if you’re enough.
Spoiler: You are.
I recorded this as a 10-minute refuge for you—a place to breathe, to feel seen, and to remind yourself that you are not alone. Together, we’re navigating the chaos, the exhaustion, and the love that grounds it all.
If you’re like me, you might feel the weight of it all a little more during this time of year. Maybe you’re thinking about your child’s progress or lack thereof, or the struggle to attend even the simplest gatherings without feeling out of place. I see you. I feel you. And I hope this episode feels like a warm hug and a reminder that you’re doing an extraordinary job in an extraordinary situation.
Every day you carry your child—physically, emotionally, and mentally—is a gift. It’s heavy, yes. But it’s also rooted in a love that’s unshakable.
Take a moment, my friend. This one is for you.
With love and gratitude,
Effie 💛
P.S. If this episode resonates, share it with another caregiver who might need it. We’re stronger when we remind each other we’re not alone.
December 12, 2024
Desde Chile nos acompaña Valentina Mendoza, mamá de Mateo de 4 años diagnosticado en Septiembre 2024. Valentina nos comparte un pedacito de su historia sobre lo difícil de conocer un diagnóstico pero también la incertidumbre de no saberlo, y a pesar de todo que con amor y valentía están dispuestos a luchar cada día para una mejor calidad de vida.
Bio de Merlina
Información sobre SRF & SYNGAP1:
Syngap Research Fund
Que es SYNGAP1?
Recursos en Español
Donaciones: https://syngap.fund/Donate
SYNGAP1 & Epilepsia
Porque es Importante Obtener un Diagnóstico Genético
Cómo Obtener Pruebas Genéticas Gratuitas en EEUU
Planificación Financiera Futura para las Personas con Discapacidades
Comentarios:
[email protected]
Conéctate con SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
SYNGAP10 Video Podcast Semanal con Mike
Episodio 23 Café SYNGAP1, Diciembre 4, 2024
#CafeSYNGAP1 #Syngap #SYNGAP1 #CureSYNGAP1 #CafeSYNGAP1Mateo #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #defensadelpaciente #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo
December 4, 2024
2024 DSF Biennial Family & Professional Conference
June 20th to June 22nd. This three-day gathering united all those committed to improving the lives of individuals with Dravet syndrome – including families, caregivers, clinicians, researchers, and biopharmaceutical professionals. It provided a platform for fostering new relationships and collaborations among families and professionals alike.
Recorded sessions from the conference can be accessed on demand by both virtual and in-person registrants through December 31, 2024.
[email protected]
November 27, 2024
Tuesday, November 26, 2024
Annie Passed yesterday #SynGAPAngel
https://www.linkedin.com/posts/graglia_the-syngap1-community-is-at-a-loss-as-we-activity-7267225798602874880-W9hw?utm_source=share&utm_medium=member_desktop
SRF NEWS
Stories just keeps getting better: https://curesyngap1.org/podcasts/syngap1-stories/stacey-miller/
New family video, use YouTube auto translate: Juliana Meza https://www.youtube.com/watch?v=NLkqswEvAQs
Two trials to consider
https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25
https://deepdeestudy.com/ list of sites: NJ & FL
Two studies we all need to sign up for
Sign up for Frazier https://syngap.fund/eye2 https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/
Citizen Health https://www.citizen.health/partners/srf
Conference - Conference is 9 days away!
Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093
Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267
Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner
FUNDRAISING
Coast2Coast Challenge $152,592 Syngap.Fund/C2C
Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted
FUNDRAISE https://syngap.fund/FR
CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/
VOLUNTEER SPOTLIGHT: Stephanie Decker
https://www.linkedin.com/in/stefanie-decker-cpa-38776696/
ZOOM BACKGROUND
https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing
VOLUNTEER
https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
- 1,230 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,851 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,779 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 456 TikTok https://www.tiktok.com/@curesyngap1
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 155 of #Syngap10
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
November 26, 2024
Show Notes
Stacey Miller, SRF's 2024 SYNGAP1 Conference Director and SRF's State Ambassador (Idaho), talks all things Conference, connecting with the SRF community, her son Jack's diagnosis, seizures, behavioral issues, and how her family's SYNGAP1 life impacts Jack's older sibling, Ava.
All episodes are available at Syngap.Fund/Stories.
Jack's Warrior Story
Connect with Stacey
[email protected]
Stacey's SRF bio
Connect with Rainy:
[email protected]
Rainy's SRF Bio
Instagram - @Hope4theCure
YouTube - @Hope4theCure
Facebook - Hope SelahMay
SYNGAP1 Stories Episode 028
SRF & SYNGAP1 Info:
What is SYNGAP1?
Syngap Research Fund - https://curesyngap1.org/
SYNGAP1 Resources for Newly Diagnosed Families
Donate to SRF
Get Involved with SRF
SRF's State Ambassador Program
Wednesday Warriors
Supporting SYNGAP1 Siblings
SYNGAP1 & Epilepsy
Why Getting a Genetic Diagnosis Matters
How to Get Free Genetic Testing
Special Needs Trusts
Details for SYNGAP1 Conference 2024
Addressing the Symptoms of SYNGAP1
Connect with SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
YouTube
SYNGAP10 Weekly Video Podcast w/ Mike
SynGAP Research Fund Apple Podcast Channel
Family Zoom Meeting (Weekly on Wednesdays, 8PM ET):
Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417
Comments:
[email protected]
Music: In the Forest... by Lesfm from Pixabay
Episode 029 SYNGAP1 Stories, November 19, 2024
#SYNGAP1StoriesJack #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp29 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #SyngapConf #SYNGAP1Siblings #Caregiver #Elopement #Behavior #Communication
November 19, 2024
Friday, November 15, 2024
SRF NEWS
Busy week for Mike & Virginie: Citizen Health & Ultragenyx, not Milken. Sign up for Citizen Health https://www.citizen.health/partners/srf
Growing our name https://curesyngap1.org/blog/syngap-research-fund-srf-announces-dba-cure-syngap1-a-new-era-in-the-search-for-a-cure/
Financials updated with 2023 https://curesyngap1.org/finances/ Thank you Stefanie Decker!
Newsletter #41 - https://Syngap.Fund/NL41 - About why we need a cure - quotes from our families
We're over 100 volunteer bios on the website! More being added every week! Great work Zoe! https://curesyngap1.org/team/
Cafe SYNGAP1 e24 is up! Gloria Amparo Guzmán Cali, Colombia https://syngap.fund/Cafe
4MTx Announcement and direct impact on pipeline
https://www.4mtx.net/news/4m-therapeutics-compounds-to-be-utilized-in-research-project-funded-by-national-institute-on-aging-bjebr
https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/
Speaking of small molecules, get this on Ravicti https://www.medrxiv.org/content/10.1101/2024.11.06.24316676v2
RESEARCH UPDATE
There are 306 papers on or related to SYNGAP1 since 1998, but 48 of those are in 2024!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded
Latest is from Frazier!
https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16112
Sign up for Frazier https://syngap.fund/eye2
https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/
More Grants at work Science:
Key Missense Webinar next week https://curesyngap1.org/resources/webinars/virtual-and-experimental-approaches-to-the-pathogenicity-of-syngap1-missense-mutations/
New study at CHOP - Phenotype of the Hispanic SYNGAP1 Family. Details (English or Spanish) at https://Syngap.Fund/CHOPEsp
Bower family blog - Camden's trip to CHCO - https://Syngap.Fund/CamCHCO
Thank you Corey Baysden for getting the Studies so well organized! https://curesyngap1.org/resources/studies/
Conference - Conference is 18 days away!
Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093
Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267
Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner
FUNDRAISING
Coast2Coast Challenge $120,642 Syngap.Fund/C2C
Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted
FUNDRAISE https://syngap.fund/FR
CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/
VOLUNTEER SPOTLIGHT:Amber Mickler
https://www.linkedin.com/posts/amber-mickler-9b3534b8_syngap1-weneedacure-raredisease-activity-7263047283305320448-GpQK
ZOOM BACKGROUND
https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing
VOLUNTEER
https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
- 1,220 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,847 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,815 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 TikTok https://www.tiktok.com/@curesyngap1
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 154 of #Syngap10
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
November 16, 2024
Sara Jimenez es mamá de Diego de 3 años. Ellos son la primera familia de Guatemala diagnosticada con SYNGAP1, y sin duda tienen una historia inspiradora que nos invita a no darnos por vencidos para encontrar un diagnóstico, dar lo mejor de nosotros como familias por el bienestar de nuestros hijos y sacar de la adversidad lo positivo y seguir adelante.
Bio de Merlina
Información sobre SRF & SYNGAP1:
Syngap Research Fund
Que es SYNGAP1?
Recursos en Español
Donaciones: https://syngap.fund/Donate
SYNGAP1 & Epilepsia
Porque es Importante Obtener un Diagnóstico Genético
Cómo Obtener Pruebas Genéticas Gratuitas en EEUU
Planificación Financiera Futura para las Personas con Discapacidades
Comentarios:
[email protected]
Conéctate con SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
SYNGAP10 Video Podcast Semanal con Mike
Episodio 22 Café SYNGAP1, Noviembre 14, 2024
#CafeSYNGAP1 #Syngap #SYNGAP1 #CureSYNGAP1 #CafeSYNGAP1Diego #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #defensadelpaciente #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo
November 14, 2024
Episode Highlights:
Mindy Henderson, a powerful advocate for disability rights and the Director & Editor-In-Chief of MDA's Quest Media. Mindy shares her journey of breaking barriers in the skies, working tirelessly to make air travel more accessible for wheelchair users and the broader disability community. She delves into practical tips for navigating travel with a wheelchair-using child, explains the importance of universal design, and discusses how sharing your story can be a catalyst for change.
Mindy also talks about her book, The Truth About Things That Suck, and the role of mindset in overcoming adversity. Packed with inspiration and actionable advice, this episode is a must-listen for anyone looking to make the world more accessible, one step—or one flight—at a time.
Links:
Connect with Mindy Henderson on LinkedIn: LinkedIn Profile
Learn more about MDA Quest: mdaquest.org
Mindy's book - The Truth About Things That Suck: Amazon Link
Tammy Duckworth - Every Day is a Gift: Amazon Link
Get Involved and Take Action:
Share your story on social media to raise awareness.
Join disability advocacy groups to support accessible travel policies.
Tune in and join us in supporting accessible, inclusive travel!
Airplane Travel Tips from a One Million Mile Traveler
The recent passage of the FAA Reauthorization Act
November 14, 2024
Gloria Amparo Guzmán es madre de Gloria Isabel, quien tiene 39 años y diagnosticada con Syngap1. Originarias de Cali, Colombia, Gloria nos habla sobre los desafíos y retos que ha enfrentado a lo largo de los años. También nos muestra su valentía y firmeza en la búsqueda del bienestar de su hija, siempre con la sonrisa que la caracteriza, enfrentando así las dificultades.
Bio de Merlina
Información sobre SRF & SYNGAP1:
Syngap Research Fund
Que es SYNGAP1?
Recursos en Español
Donaciones: https://syngap.fund/Donate
SYNGAP1 & Epilepsia
Porque es Importante Obtener un Diagnóstico Genético
Cómo Obtener Pruebas Genéticas Gratuitas en EEUU
Planificación Financiera Futura para las Personas con Discapacidades
Comentarios:
[email protected]
Conéctate con SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
SYNGAP10 Video Podcast Semanal con Mike
Episodio 21 Café SYNGAP1, Noviembre 7, 2024
#CafeSYNGAP1 #Syngap #SYNGAP1 #CafeSYNGAP1Gloria #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #defensadelpaciente #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo
November 7, 2024
STUDIES AND A TRIAL
FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/
CHANGES (UK) https://curesyngap1.org/resources/studies/changes-study-adults-an-investigation-into-behaviour-and-physiology-in-syngap1/
PNO https://curesyngap1.org/resources/studies/pregnenolone-treatment-trial-for-individuals-with-autism/
Science:
Chow Press - https://curesyngap1.org/blog/dr-clement-chow-at-the-university-of-utah-receives-support-from-syngap-research-fund-srf-to-accelerate-therapeutic-development-for-syngap1-related-disorders-pr30/
Sohal Webinar - https://curesyngap1.org/resources/webinars/94-targeting-gamma-oscillations-to-improve-cognition/ or https://fb.watch/vBYXj4FY7A/
Conference - Conference is 1 month away!
Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093
Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267
Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner
RESEARCH UPDATE
There are 304 papers on or related to SYNGAP1 since 1998, but 46 of those are in 2024!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded
Latest is from Canada, where they look at the impact of SYNGAP1 on auditory cortex function, social behavior and ability to extinguish fear memories.
https://www.jneurosci.org/content/early/2024/10/08/JNEUROSCI.0946-24.2024.long
FUNDRAISING
- Coast2Coast Challenge $92,754 Syngap.Fund/C2C
- Missense Account of the Fund $25,940
https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund
- Charmander $10,585
https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander - Emmy $8,347
https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research
Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted
Lovely blog on Scramble: https://curesyngap1.org/blog/swinging-for-a-cause-the-3rd-annual-scramble-for-syngap1/
ZOOM BACKGROUND
https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing
VOLUNTEER
https://curesyngap1.org/volunteer-with-srf/
FUNDRAISE
https://syngap.fund/FR
CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/
SOCIAL MATTERS
- 1,200 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,889 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 TikTok https://www.tiktok.com/@curesyngap1
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 153 of #Syngap10
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
November 2, 2024
Tuesday, October 22, 2024
First Principles
Genetic disease means that gene broken since conception.
Novel medicines are possible ways to fix the gene - Genetic Therapies (ASO &/or AAV), this is recent, before now, kids with these diseases were a “go home and love them” situation.
These are delivered via spinal tap or directly to the brain in leading medical centers.
First though, regulators must approve.
Our job
Develop medicines or get industry to - This is happening see Pipeline
Get regulators to approve trials
Get medical centers up to speed on SYNGAP1-Related Disorders (SRD)
What we are building on
CHOP ENDD funded externally (see #S10e92) and replicating what was built for STXBP1, check last week’s webinar https://curesyngap1.org/resources/webinars/93-endd-chop-2024-syngap1/
Rare-X platform for PRO collection
Regulatory pathway being made clearer every day by Stoke (Dravet), Praxis (SCN2A), Ionis (many) all of whom are working on SYNGAP1 as well.
What we are asking for
We need to raise at least $500k (3rd site), preferably $1.13M (ProMMiS)
Make your largest gift ever to SRF
Fundraise with friends and family
ACES is now ProMMiS, who knew ACE meant Adverse Childhood Event, not us.
Key slides: S1 Path to Treatment | 2024 (09.27.24)
1. Why Now? Why is it time to go from bench to bedside (research to clinical)?
At least 10 companies on our pipeline not to mention multiple small molecule efforts
We have limited resources – so the focus has to transition, clinical funding first.
CHOP Gift is 1 year down…
2. Why NHS?Understand SYNGAP1 better, go beyond Vlaskamp 2019 and Wiltrout 2024, see #S10e105
FYI at CHOP, as I shared in #S10e151, at year 1, we are at – 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up)
Learn what to measure in clinical trials for SRD, remember our seizures are challenging
Ideally we develop a Synthetic Control Arm if we use GCP
Why top shelf? We need institutions the FDA will take seriously and our children are very complex requiring experienced clinicians.
3. Why Multidisciplinary.
Neuro, Psych, Genetics, PT, ST, OT, GI, Sleep, ENT, Ortho.
Beyond the sheer burden of getting our kids out and about for multiple appointments the coordination by a parent is almost impossible.
4. Why Multisite/3 sites?Replicable/scalable required by regulators
Accessibility (not primary reason)
Establish more locations where trials will be managed
Laying a foundation for a national self-sustaining network
3 is the minimum, look at STARR or Angelman, both had/ve 4.
5. How and why so fast?
Because we can. Time is Brain.
Following a well trodden path
SMA, Rett, Angelman, Dravet, but we are moving FASTER.
6. Does the industry really care?
We are next there are so so many behind us, eager to take the resources we have access to today.
Market size (Per our Census 425 US/1500 global is tip of iceberg)
Multiple players reassuring each other
Relatively strong amount of scientific and clinical research
Haploinsufficiency (like Dravet – STOKE) – so relatively easy
7. Expensive?
No. Clinical Research is more expensive than basic scientific research.
Leveraging CHOP and Rare-X, setting up required networks to prepare for clinical trials.
It’s time.
8. Why Bother/Help?
Now is the time for SYNGAP1, we miss it at our peril.
Sure, once in these places we will still see our patients, but the study, the support and the focus may pass.
Our kids don’t die, regardless of patient age, what we are doing can change their future and that of their loved ones and caregivers.
If not us, then who? It is a rare exception when a non-family member gives a gift, and it is always because a family member asked. We must ask.
9. What can I do?
Donate to, share, join our Coast2Coast Clinics Challenge – two SYNGAP1 Squads in West and East – it’s critical
$500k goal by end of 2024; more than $1M needed just for the SYNGAP1ProMMiS. So far, donations from $25 to $25,000 – each and every contribution matters.
This requ
October 22, 2024
📝Full show notes: https://curesyngap1.org/podcasts/syngap10/
Census is at 1,497! Syngap.Fund/Census
Fundraising Season! Gala is tonight in NJ! Syngap.Fund/CLG4 #NLKrox
- UFD Tech, $52,094
- Scramble, $28,000
Current Efforts:
- Coast2Coast Challenge $42,691 Syngap.Fund/C2C
- Missense Account of the Fund $23,684
https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund
- Charmander $10,585
https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander - Emmy $8,173
https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research
ONLINE SHOPPINGS
EBay - We have an eBay shop sell for SRF! https://charity.ebay.com/charity/i/SynGAP-Research-Fund--Inc-/171038
Amazon - https://curesyngap1.org/blog/srf-amazon-storefront-to-cure-syngap1/
FRAZIER STUDY - Half enrolled!
https://Syngap.Fund/Eye2
[email protected]
CHOP is 1!
- 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up) = DATA
- https://x.com/cureSYNGAP1/status/1843684785740255303
School and Behaviour
Go Elle! https://www.govtech.com/education/k-12/special-education-desperate-for-support-amid-severe-behaviors
Do you have an advocate and a lawyer? I just got an email from an advocate. We need to do a webinar with Jackie, Nancy, Elle and others. #NLKrox
On the site
Syngap.Fund/Bones & lit review Syngap.Fund/AEDeffect
Syngap.Fund/Sibling with the inaugural issue from Nancy #NLKrox
Syngap.Fund/InsWin Insurance with Sara Driscoll
Vicky & Merlina are unstoppable
SHER Board: https://www.linkedin.com/posts/sherusaoficial_excited-to-introduce-the-board-of-directors-activity-7250152735403040768-Q18W
Colombia Meeting: https://www.linkedin.com/posts/victoria-arteaga-26913433_raredisease-patientsfirst-collaboration-activity-7246975509358612480-InHP
Cafe SYNGAP1 is up to 20! Syngap.Fund/Cafe
Conference - Conference is 47 days away
Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf
Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A
Industry News - Lundbeck is back into the rare epilepsy space through the acquisition of Longboard for the drug bexicaserin
https://www.linkedin.com/posts/anamingorance_lundbeck-signs-25b-check-for-longboard-activity-7251598931069960192-ytkb
MNDU3 re https://pubmed.ncbi.nlm.nih.gov/38967915/ https://www.biospace.com/drug-development/7-children-receiving-bluebirds-gene-therapy-developed-blood-cancers-study
RESEARCH UPDATE
There are 303 papers on or related to SYNGAP1 since 1998, but 45 of those are in 2024!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded
So much to note, Bateup and Silverman with mice, Vanderhaeghen on SRGAP-2, CHOP on EEG…
https://www.cell.com/neuron/fulltext/S0896-6273(24)00645-7
VOLUNTEER
https://curesyngap1.org/volunteer-with-srf/
FUNDRAISE
https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/
SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
- 1,200 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,889 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 TikTok https://www.tiktok.com/@curesyngap1
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 151 of #Syngap10 - Friday, October 18th, 2024
#
October 18, 2024
En este episodio especial, nos tomamos un momento para conocer la historia de nuestra linda anfitriona Merlina Dávila. Originaria de Venezuela, Merlina ahora reside en Texas con su esposo y dos hijas. Merlina nos habla sobre cómo es el proceso de vivir con una niña SYNGAP1, sobre el balance en una familia atípica y sobre su experiencia como colaboradora en el Fondo de investigación SYNGAP.
Historia de Rosanna
Bio de Merlina
Información sobre SRF & SYNGAP1:
Syngap Research Fund
Que es SYNGAP1?
Recursos en Español
Donaciones: https://syngap.fund/Donate
SYNGAP1 & Epilepsia
Porque es Importante Obtener un Diagnóstico Genético
Cómo Obtener Pruebas Genéticas Gratuitas en EEUU
Planificación Financiera Futura para las Personas con Discapacidades
Comentarios:
[email protected]
Conéctate con SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
SYNGAP10 Video Podcast Semanal con Mike
Episodio 20 Café SYNGAP1, Octubre 10, 2024
#CafeSYNGAP1 #Syngap #SYNGAP1 #CafeSYNGAP1Rosanna #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #defensadelpaciente #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo
October 10, 2024