Kathryn Helde, SRF’s CSO and SYNGAP1 Mom talks about her adult son Joey, genetic testing, hippotherapy, and Joey’s words!

Kathryn Helde, SRF’s CSO and SYNGAP1 Mom talks about her adult son Joey, genetic testing, hippotherapy, and Joey’s words!

Show Notes

SRF’s CSO Kathryn Helde, PhD talks with Rainy about her son Joey – living in a group home, rock climbing, DIR therapy, genetic testing & reports, and advice on avoiding isolation. “He went to a group home. That took a long time to come to terms with emotionally. That’s so much harder than anything else I’ve ever done.”

All episodes are available at ⁠cureSYNGAP1.org/Stories⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠.

Connect with Kathryn:

• cso@cureSYNGAP1.org
• Kathryn’s SRF bio

Connect with ⁠⁠⁠⁠⁠⁠Rainy:

• ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠rainy@cureSYNGAP1.org⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠
• ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Rainy’s SRF Bio⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠
• Instagram – ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠@Hope4theCure⁠⁠⁠⁠
• YouTube – ⁠⁠⁠⁠⁠@Hope4theCure⁠⁠⁠⁠⁠
• Facebook – ⁠⁠⁠⁠⁠Hope SelahMay⁠⁠⁠⁠
• SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 028⁠⁠⁠⁠

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

• ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠What is SYNGAP1-related disorders?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠
• 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 Fundraising Resource Page⁠⁠
• ⁠⁠⁠⁠SRF’s State Ambassador Program⁠⁠⁠⁠
• Advocate for SYNGAP1

• ⁠⁠⁠⁠⁠⁠Wednesday Warriors⁠⁠⁠⁠⁠⁠
• ⁠⁠⁠⁠⁠⁠⁠⁠⁠Supporting SYNGAP1 Siblings⁠⁠⁠⁠⁠⁠⁠⁠⁠
• ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠
• ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Addressing the Symptoms of SYNGAP1⁠⁠⁠⁠

SYNGAP1 Studies and Trials:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

• ⁠SYNGAP1 Studies⁠⁠⁠
• ⁠⁠SYNGAP1 ProMMiS⁠⁠ – Prospective Multidisciplinary, Multisite Study for Clinical Excellence
• ⁠⁠⁠Clinical Trials⁠⁠⁠
• ⁠⁠⁠Frazier Eye Study⁠⁠⁠
• ⁠⁠⁠⁠⁠⁠⁠⁠Citizen Health⁠⁠⁠

More Links:

• Heather Mefford, MD, PhD⁠
• Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠
• ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠
• ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠
• ⁠Sprint4Syngap 2025⁠⁠⁠ (⁠⁠donation page⁠⁠ and ⁠⁠resource guide⁠⁠)
• ⁠⁠⁠⁠⁠⁠SRF Grants⁠⁠
• ⁠⁠SRF Press Releases⁠⁠
• ⁠⁠SRF’s Medical Considerations Document⁠⁠

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 (bi-weekly on Wednesdays, 8PM ET):

• ⁠cureSYNGAP1.org/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID – 972 0059 2178 Passcode – 848417

Comments: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ed@cureSYNGAP1.org⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest… by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Episode 032 SYNGAP1 Stories, March 18, 2025

#SYNGAP1StoriesJoey #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp32 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #CureSyngap1Conf #SYNGAP1Siblings #Caregiver #Elopement #Behavior #Communication #SelfHelp #Volunteer #Conf25 #RockClimbing #Hippotherapy #Therapy