SYNGAP1 Stories

Virginie McNamar, CURE SYNGAP1's President & COO, talks with Rainy about Ty's 2016 Dx, dangerous elopement, benefit of Ty's service dog, and the upcoming CURE SYNGAP1 Conference in Atlanta

Listen Later

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.

⁠

Ty's Warrior Story⁠


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

...more
View all episodesView all episodes
Download on the App Store
SYNGAP1 StoriesBy Syngap Research Fund, 501(c)(3)
  • 5
  • 5
  • 5
  • 5
  • 5

5

29 ratings

More shows like SYNGAP1 Stories

View all
CURE SYNGAP1 PODCAST aka SYNGAP10 by Syngap Research Fund, 501(c)(3)

CURE SYNGAP1 PODCAST aka SYNGAP10

85 Listeners

Café SYNGAP1 by Syngap Research Fund, 501(c)(3)

Café SYNGAP1

19 Listeners