This episode is packed with insightful advice and personal stories filled. "All he did was miss milestones. There was nothing medically wrong at the time. So we got genetic testing, and SYNGAP1 came back. For us, it was crushing, because there was no more hope that he would just catch up. Our world was turned upside down."
If you liked this episode, please give our podcast 5 stars! All episodes are also available at cureSYNGAP1.org/Stories.
Connect with Virginie:
Other Episode Links:
- Get Involved with SRF
- Volunteer with SRF
- Press Release announcing new President/COO
- Early Global Leaders of SYNGAP1 Community
Connect with Rainy:
- [email protected]
- Rainy's CURE SYNGAP1 Bio
- Instagram - @Hope4theCure
- YouTube - @Hope4theCure
- Facebook - Hope SelahMay
- SYNGAP1 Stories Episode 028
- Rainy and Hope's Cross Country Quest
CURE SYNGAP1 & SYNGAP1-Related Disorders Info:
- CURE SYNGAP1 aka SynGAP Research Fund - https://cureSYNGAP1.org/
- What are SYNGAP1-related disorders?
- How Many People Have SYNGAP1?
- SYNGAP1 Resources for Newly Diagnosed Families
- Donate to CURE SYNGAP1
- CURE SYNGAP1 Brochure
- CURE SYNGAP1 Fundraising Resource Page
- CURE SYNGAP1's State Ambassador Program
- Wednesday Warriors
- Supporting SYNGAP1 Siblings
- SYNGAP1 & Epilepsy
- Addressing the Symptoms of SYNGAP1
- Why Getting a Genetic Diagnosis Matters
- How to Get Free Genetic Testing
- CURE SYNGAP1's Medical Considerations Document
SYNGAP1 Studies and Trials:
- SYNGAP1 Studies
- SYNGAP1 ProMMiS – Prospective Multidisciplinary, Multisite Study for Clinical Excellence: CHOP, CHCO, Stanford
- Citizen Health
- Clinical Trials
- Frazier Eye Study
- The EMERALD Trial
Connect with CURE SYNGAP1 (@cureSYNGAP1):
- LinkedIn
- Facebook
- Instagram
- YouTube
- X/Twitter
- TikTok
- SYNGAP10 Weekly Video Podcast w/ Mike
- CURE SYNGAP1 Apple Podcast Channel
Family Zoom Meeting (bi-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 038 SYNGAP1 Stories, October 22, 2025
#SYNGAP1StoriesTy #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp38 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #CureSyngap1Conf #SYNGAP1Siblings #Caregiver #Behavior #Communication #SelfHelp #Volunteer #Conf25 #Therapy #CitizenHealth
