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SYNGAP1 Stories

SYNGAP1 Stories

By Syngap Research Fund, 501(c)(3)

SYNGAP1 is a rare disease that affects Ashley Frye's son Nathan. As of January 1, 2024, there are 1,339 people in the world diagnosed with SYNGAP1. There is no treatment. There is no cure. In each episode of SYNGAP1 Stories, Ashley will chat with SynGap parents, volunteers, caregivers, researchers, and partners about their journey with SYNGAP1 in their lives. Their joys and successes, as well as heartaches and advice, will be discussed in this heart-warming series as we support the SynGap community.
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SYNGAP1 StoriesJan 24, 2023

00:00
01:10
Jackie Kancir, SYNGAP1 Mom and Advocacy Leader for SRF talks about daughter Jadyne and shares advice for all rare disease parents.

Jackie Kancir, SYNGAP1 Mom and Advocacy Leader for SRF talks about daughter Jadyne and shares advice for all rare disease parents.

Show Notes

In this special episode, guest host Jessica Johnson talks with Jackie Kancir. The two SYNGAP1 Moms discuss education systems, on the farm with Jadyne (Jackie's daughter), make-up, behavioral issues, Jadyne's optimism, and advocating for your children! This episode will educate everyone in the rare disease world. Behavior is communication - listen for details!

See all episodes at ⁠⁠⁠⁠⁠Syngap.Fund/Stories⁠⁠⁠⁠⁠.

Jadyne's Warrior Story⁠⁠

Connect with Jackie:

jackie@curesyngap1.org

Jackie's SRF bio

⁠⁠⁠LinkedIn

Other Links

SRF SYNGAP1 Resources for Education & Advocacy

SYNGAP1: Background, Development, and the Impact on Children

Information on ABA - Applied Behavior Analysis - Link 1; Link 2

Severe Behaviors and Advocacy, SRF Webinar #53 by Jackie

Exploring Advocacy: Finding and Refining Your Voice - webinar hosted by Jackie

Jackie has misc. links ⁠news, media, etc. here⁠

Connect with ⁠⁠⁠⁠⁠⁠Ashley⁠⁠⁠⁠⁠⁠:

⁠⁠⁠⁠⁠⁠afrye@curesyngap1.org⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠Ashley's SRF Bio⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ - Ashley Frye

Connect with ⁠⁠⁠⁠⁠⁠Jessica:

jjohnson@curesyngap1.org

Kai's Warrior Story

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - ⁠⁠⁠https://curesyngap1.org/⁠⁠⁠

⁠⁠⁠SYNGAP1 Resources for Newly Diagnosed Families⁠⁠⁠

Wednesday Warriors

⁠⁠⁠Supporting SYNGAP1 Siblings⁠⁠⁠

Donate - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

SYNGAP1 Family Day 2023 – A Beacon of Hope! (blog with videos)

⁠⁠⁠Pre-register⁠⁠⁠ for SYNGAP1 Conference 2024

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠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

Sibling Zoom Meeting (Monthly on 1st Thursday, 8PM ET):

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ⁠⁠⁠⁠⁠ed@curesyngap1.org⁠⁠⁠⁠⁠

Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Episode 027 SYNGAP1 Stories, March 3, 2024

#SYNGAP1StoriesJadyne #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp27 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #SyngapConf #SYNGAP1Siblings #Caregiver #Elopement #BehaviorIsCommunication

Mar 03, 202443:15
Paulina Polanco, SRF volunteer and sibling to twin sisters with SYNGAP1 shares her very personal story of loss of what could have been, love, and hope.

Paulina Polanco, SRF volunteer and sibling to twin sisters with SYNGAP1 shares her very personal story of loss of what could have been, love, and hope.

Show Notes

The most moving episode yet! Paulina Polanco is caregiver to her twin sisters Libertad (Libby) and Esperanza (Espy). She delivered a raw, personal address at the 2023 SYNGAP1 Conference hosted by SRF. This episode not only includes that speech, but Ashley talks candidly to Paulina to expand upon her life with twin Syngapians. See all episodes at ⁠⁠⁠⁠Syngap.Fund/Stories⁠⁠⁠⁠.

Warrior Story⁠⁠ for Libby & Espy

Connect with Paulina:

⁠⁠Instagram

Facebook

Blog Posts Written by Paulina:

SRF – Our Voice is Getting Louder for SYNGAP1!

SYNGAP1 Family Day 2023 – A Beacon of Hope!

Other Links:

SRF Siblings Page

Fondo de Investigación Syngap

Recursos en español

Café Syngap1 Podcast

Connect with ⁠⁠⁠⁠⁠⁠Ashley⁠⁠⁠⁠⁠⁠:

⁠⁠⁠⁠⁠afrye@curesyngap1.org⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SRF Bio⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - ⁠⁠https://curesyngap1.org/⁠⁠

⁠⁠SYNGAP1 Resources for Newly Diagnosed Families⁠⁠

⁠⁠Supporting SYNGAP1 Siblings⁠⁠

Donate - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠Pre-register⁠⁠ for SYNGAP1 Conference 2024

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠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

Sibling Zoom Meeting (Monthly on 1st Thursday, 8PM ET):

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ⁠⁠⁠⁠ed@curesyngap1.org⁠⁠⁠⁠

Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Episode 026 SYNGAP1 Stories, February 13, 2024

#SYNGAP1StoriesLibby #SYNGAP1StoriesEspy #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp26 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #SyngapConf #SYNGAP1Siblings #Caregiver #WinnieThePooh

Feb 13, 202452:03
Jessica Johnson, SRF Volunteer and SYNGAP1 Mom shares her positive outlook on raising her son Kai.

Jessica Johnson, SRF Volunteer and SYNGAP1 Mom shares her positive outlook on raising her son Kai.

Show Notes

Living with SYNGAP1 can be challenging, but approaching it with a positive outlook is important. Listen to Jessica Johnson chat with Ashley to talk about her son Kai, who has SYNGAP1. They discuss iPads, music & guitars, finding your community, and more. See all episodes at ⁠⁠⁠Syngap.Fund/Stories⁠⁠⁠.

Kai's Warrior Story

Connect with Jess:

Instagram⁠

Instagram (Kai's account)

Connect with ⁠⁠⁠⁠⁠⁠Ashley⁠⁠⁠⁠⁠⁠:

⁠⁠⁠⁠afrye@curesyngap1.org⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠SRF Bio⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - ⁠https://curesyngap1.org/⁠

⁠SYNGAP1 Resources for Newly Diagnosed Families⁠

⁠Supporting SYNGAP1 Siblings⁠

Donate - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Pre-register for SYNGAP1 Conference 2024

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠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

Sibling Zoom Meeting (Monthly on 1st Thursday, 8PM ET):

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ⁠⁠⁠ed@curesyngap1.org⁠⁠⁠

Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Episode 025 SYNGAP1 Stories, January 30, 2024

#SYNGAP1StoriesKai #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp25 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Music #Guitars #SyngapConf #Advice #RareAdvice #SYNGAP1Siblings #Positivity

Jan 30, 202446:14
Hilary Volz, SYNGAP1 Mom to Brycen, talks about Disney movies, genetic testing, behaviors, & more!

Hilary Volz, SYNGAP1 Mom to Brycen, talks about Disney movies, genetic testing, behaviors, & more!

Show Notes:

We open 2024 where we left off in 2023 - great advice! Hilary Volz joins Ashley to talk about her son Brycen, who has SYNGAP1. They discuss Brycen's favorite (and not so favorite) Disney movies, genetic testing, severe behaviors, his super sibling Kallen, and more. See all episodes at ⁠⁠Syngap.Fund/Stories⁠⁠.

Brycen's Warrior Story

Connect with Hillary:

Facebook

Instagram

Other Episode Links:

Fragile X

Helen DeVos Children's Hospital Intensive Feeding Clinic

Connect with ⁠⁠⁠⁠⁠⁠Ashley⁠⁠⁠⁠⁠⁠:

⁠⁠⁠afrye@curesyngap1.org⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠SRF Bio⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - https://curesyngap1.org/

SYNGAP1 Resources for Newly Diagnosed Families

Supporting SYNGAP1 Siblings

Donate - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Pre-register for SYNGAP1 Conference 2024

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠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

Sibling Zoom Meeting (Monthly on 1st Thursday, 8PM ET):

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ⁠⁠ed@curesyngap1.org⁠⁠

Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Episode 024 SYNGAP1 Stories, January 9, 2024

#SYNGAP1StoriesBrycen #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp24 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #SyngapConf #Advice #RareAdvice #DisneyMovies #FragileX #SYNGAP1Siblings #ABATherapy

Jan 09, 202436:15
Special Episode - On Giving Tuesday, we present the best advice from SYNGAP1 Stories guests from the past year!

Special Episode - On Giving Tuesday, we present the best advice from SYNGAP1 Stories guests from the past year!

Show Notes:

This is the Best Episode of 2023! Every SYNGAP1 parent had a story to tell Ashley and advice for others. This compilation has it all! Good advice is good at any time, no matter how many times you hear it, and this episode has a lot of advice that relates to all in the Rare Disease Community. We hope you enjoy, and if you’ve missed any episodes, you can see them all at ⁠Syngap.Fund/Stories⁠.

Please help us on Giving Tuesday so that we can continue our effort to find a cure for all who are living with SYNGAP1 - donate at https://Syngap.Fund/GT23

Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠:

⁠⁠afrye@curesyngap1.org⁠⁠

⁠⁠⁠⁠⁠⁠⁠SRF Bio⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠⁠⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - ⁠⁠⁠⁠⁠⁠⁠https://syngapresearchfund.org⁠⁠⁠⁠⁠⁠⁠

Donate - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ w/ Mike

SynGAP Research Fund ⁠⁠⁠Apple Podcast Channel⁠⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ⁠ed@curesyngap1.org⁠

Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Episode 023 SYNGAP1 Stories, November 28, 2023

#SYNGAP1StoriesAshley #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp23 #Nathan #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #SyngapConf #Advice #RareAdvice #SRFGivingTuesday #GivingTuesday

Nov 28, 202350:09
Special Episode - The Best of Ashley! Clips from the past year's episodes featuring Ashley's story, her advice, and always, her compassion!

Special Episode - The Best of Ashley! Clips from the past year's episodes featuring Ashley's story, her advice, and always, her compassion!

Show Notes:

It’s been almost a year of SYNGAP1 Stories with Ashley Frye, and while Ashley buttons up plans for the upcoming SYNGAP1 Conference 2023, hosted by SRF, we have a special episode for you. While Ashley focuses on each episode’s guest and their stories, she also shares anecdotes, opinions, and advice of her own, and we share snippets from the first 21 episodes here. We hope you enjoy, and if you’ve missed any episodes, you can see them all at Syngap.Fund/Stories.

And…remember to send Ashley a belated Happy Birthday message: afrye@curesyngap1.org

Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠:

⁠⁠⁠⁠⁠⁠SRF Bio⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - ⁠⁠⁠⁠⁠⁠https://syngapresearchfund.org⁠⁠⁠⁠⁠⁠

Donate - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ w/ Mike

SynGAP Research Fund ⁠⁠Apple Podcast Channel⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Episode 022 SYNGAP1 Stories, November 14, 2023

#SYNGAP1StoriesAshley #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp22 #Nathan #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #SyngapConf #HappyBirthday

Nov 14, 202336:59
FAQs for SRF’s SYNGAP1 Conference 2023 - Operations Mgr. Lauren Perry joined Ashley recently with all you need to know.

FAQs for SRF’s SYNGAP1 Conference 2023 - Operations Mgr. Lauren Perry joined Ashley recently with all you need to know.

Show Notes:

This episode is dedicated to the upcoming SYNGAP1 Conference 2023, hosted by SRF. Pricing goes up after 10/31. Registration closes 11/8. Don't delay! Register now here! Special Thank you to our sponsors, including our Gold-level sponsors, Stoke Therapeutics / Acadia Pharmaceuticals!

Book your rooms here

Order T-shirts here

Friday night Caregiver Dinner tickets here

Lauren Perry - SRF Bio

Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠:

⁠⁠⁠⁠⁠SRF Bio⁠⁠⁠⁠⁠

⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - ⁠⁠⁠⁠⁠https://syngapresearchfund.org⁠⁠⁠⁠⁠

Donate - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ w/ Mike

SynGAP Research Fund ⁠Apple Podcast Channel⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠

Episode 021 SYNGAP1 Stories, October 31, 2023

#SYNGAP1StoriesConf #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp21 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #SyngapConf #Orlando

Oct 31, 202315:26
Nancy Kessler, SRF BOD member, talks about her sister, Caren, the oldest known person living with SYNGAP1 at age 67. A fascinating story - check links in show notes for even more of her story!

Nancy Kessler, SRF BOD member, talks about her sister, Caren, the oldest known person living with SYNGAP1 at age 67. A fascinating story - check links in show notes for even more of her story!

Show Notes:

Nancy Kessler is an SRF BOD member, an active volunteer & advocate, and has hosted the SRF Gala honoring her sister Caren Leib for three years, including coming up on October 21, 2023. Caren is the oldest known person diagnosed with SYNGAP1. It is impossible to do justice to her 67 years on this planet, but luckily, Caren starred in her own movie, and Nancy has shared numerous other stories about her sister’s life. We hope you enjoy this unique episode, then check out the links below to learn even more about this family that is so special to the SynGAP Research Fund community. 

Nancy’s ⁠SRF Bio⁠

Caren’s ⁠Warrior Story⁠

Celebrating Caren - 15-minute movie; 2-minute trailer; press release;

Video of event held to launch Celebrating Caren

Meeting Caren--Interview with SRF’s Jess Duggan Blog post (Jess’s SRF Bio)

SRF Gala honoring Caren Leib - 2023 webpage; 2022 videos #1 & #2; 2021 summary;

Happy 65th Birthday Caren! - Blog Post

Follow Nancy:

Instagram

LinkedIn

Facebook

Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠:

⁠⁠⁠⁠SRF Bio⁠⁠⁠⁠

⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠

⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - ⁠⁠⁠⁠https://syngapresearchfund.org⁠⁠⁠⁠

Donate - ⁠⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠⁠ w/ Mike

SynGAP Research Fund Apple Podcast Channel

SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠⁠⁠Registration⁠⁠⁠⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠

Episode 020 SYNGAP1 Stories, October 17, 2023

#SYNGAP1StoriesCaren #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp20 #Caren #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #CelebratingCaren #Gala

Oct 17, 202337:50
Julie Miles, SRF BOD member, talks about Miller's SYNGAP1 journey, getting 'The Call', activities Miller loves, the upcoming Scramble for SynGAP, & patience.

Julie Miles, SRF BOD member, talks about Miller's SYNGAP1 journey, getting 'The Call', activities Miller loves, the upcoming Scramble for SynGAP, & patience.

Show Notes:

Julie Miles is an SRF Board Member, Volunteer, and organizes the upcoming event ‘Scramble for SynGAP’ in Traveler’s Rest, SC. Miller, the eldest of her three children with husband Michael, is 8 years old and was diagnosed with SYNGAP1 on July 28, 2020. Ashley talks with Julie about developmental delays, genetic testing, a devastating diagnosis, concerns over self-blame, and the joys of watching Miller enjoy music, baseball, spelling, books, and, of course, swimming!

Julie’s SRF Bio

WSPA-7 News Video

Scramble for SynGAP

Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠:

⁠⁠⁠⁠SRF Bio⁠⁠⁠⁠

⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠

⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - ⁠⁠⁠⁠https://syngapresearchfund.org⁠⁠⁠⁠

Donate - ⁠⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠⁠ w/ Mike

SynGAP Research Fund Apple Podcast Channel

SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠⁠⁠Registration⁠⁠⁠⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠

Episode 019 SYNGAP1 Stories, October 3, 2023

#SYNGAP1StoriesMiller #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp19 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Agression #Behavior #Scramble #ScrambleForSyngap #TheCall #Music #Swimming #Baseball #Spelling #Golf #Patience

Oct 03, 202347:12
Sydney & Brett Stelmaszek, SRF volunteers, share their journey with their 3 sons to find the best care for Emmitt, diagnosed w/ SYNGAP1 in 2019.

Sydney & Brett Stelmaszek, SRF volunteers, share their journey with their 3 sons to find the best care for Emmitt, diagnosed w/ SYNGAP1 in 2019.

Sydney & Brett Stelmaszek are heavily involved in the SRF community. Sydney is on the BOD, is a patient advocate, and coordinates our connection with Children’s Hospital of Philadelphia (CHOP). Brett is the driving force behind Cannonball for the Cure (CFTC), an annual fundraiser where SYNGAP1 parents drive cross country live-streaming the entire journey to raise awareness of SYNGAP1. This episode touches on their involvement with SRF as well as raising their son Emmitt, diagnosed with SYNGAP1 while living in South Africa. Their story of excessive seizures, aggression, hope, and love while caring for Emmitt and his two brothers is at times heart-breaking, but always heartwarming.

Emmitt’s Warrior Story

Eating with Emmitt - Blog Post

Flying & Seizing from Africa to Florida - Emmitt's Story

Sydney’s SRF Bio

Follow Sydney & Brett:

Instagram - @UFD_Tech

Twitter - @SydneyStel & @UFDTech

Facebook - Sydney

YouTube - @UFDTech

YouTube - Our Syngap Journey

More links:

Cannonball for the Cure

Natural History Study at CHOP

SPECIAL WEBINAR: $25M Gift to ENDD for SYNGAP1 and STXBP1

MDBR - Blog Post by Sydney

Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠:

⁠⁠⁠SRF Bio⁠⁠⁠

⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠Facebook⁠⁠⁠⁠⁠

⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - ⁠⁠⁠https://syngapresearchfund.org⁠⁠⁠

Donate - ⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠

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⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠ w/ Mike

SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠⁠Registration⁠⁠⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠

Episode 018 SYNGAP1 Stories, September 19, 2023

#SYNGAP1StoriesEmmitt #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp18 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Agression #Behavior #Cannonball #CFTC #UFD

Sep 19, 202301:08:32
Vicky Arteaga is the Latin America Director of SRF & SYNGAP1 Mom to Amelia. Her efforts help the SYNGAP1 community in Latin America & across the globe.

Vicky Arteaga is the Latin America Director of SRF & SYNGAP1 Mom to Amelia. Her efforts help the SYNGAP1 community in Latin America & across the globe.

Show Notes

Victoria Arteaga is the Director of Fondo de Investigación SYNGAP & SYNGAP1 Mom to Amelia. She works endlessly to help the SYNGAP1 community in Latin America & across the globe, attending and presenting at multiple conferences annually. Vicky discusses Amelia’s progress, the joy she brings to the family, a new service dog, SRF’s latest podcast Café SYNGAP1 in Spanish, and the upcoming Second SYNGAP1 Scientific Conference, also in Spanish.

Amelia’s Warrior Story & Instagram Post

Vicky’s Bio

Follow Vicky:

Instagram - @vickyart78

Instagram Fondo - @syngapamericalatina

Twitter - @VickyAArteaga

More links:

Gomez Family Video (Spanish w/ English subtitles)

Brain & Life Interview - Spanish & English

Café SYNGAP1

Segundo Congreso Científico Syngap1 en Español

Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠:

⁠⁠⁠SRF Bio⁠⁠⁠

⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠Facebook⁠⁠⁠⁠⁠

⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - ⁠⁠⁠https://syngapresearchfund.org⁠⁠⁠

Donate - ⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠ w/ Mike

SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠⁠Registration⁠⁠⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠

Episode 017 SYNGAP1 Stories, September 12, 2023

#SYNGAP1StoriesAmelia #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp017 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #ServiceDog

Sep 12, 202335:27
Mike Graglia, SRF Managing Dir. & SYNGAP1 Dad to Tony. Going back to school can be difficult. Tony's experience shows that it's so much harder for kids with SYNGAP1!

Mike Graglia, SRF Managing Dir. & SYNGAP1 Dad to Tony. Going back to school can be difficult. Tony's experience shows that it's so much harder for kids with SYNGAP1!

Show Notes

Going back to school is difficult for most kids and their families, but for those living with SYNGAP1 and other rare diseases, it is especially hard! Mike Graglia, SRF Co-Founder & Managing Director and Dad to Syngapian Tony, joins Ashley again to talk about a crisis his family experienced on Tony's first day at a new school. It's easy to talk about the joy we experience with our special kids, but it can be gut-wrenching to discuss (and hear about) the hard days. That makes it so important to share these stories - to make sure our community and those around us can prepare for these possibilities to the best of our abilities. Please, if you have a story to share, email us at ed@curesyngap1.org. Thank you for listening!

Tony’s Warrior Story

Mike Graglia’s Bio

Mike & Ashley’s Story

SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠Episode 002⁠⁠⁠⁠⁠⁠ - Mike Graglia

More links:

Jackie Kancir’s Bio

Webinar - Severe Behaviors & Advocacy (with Jackie Kancir)

Blog Post - Stella Stays In School: Getting Educational Needs Met

Blog Post - A Message To The Newly Diagnosed SynGAP-1 Parent

Webinar - Your teenager was just diagnosed with SYNGAP1, processing through a new lens

Syngap Soirée

Ashley’s Soirée Video

Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠:

⁠⁠SRF Bio⁠⁠

⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠

⁠Facebook⁠⁠⁠⁠

⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠

⁠What is SYNGAP1?⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - ⁠⁠https://syngapresearchfund.org⁠⁠

Donate - ⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠

⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠

⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠

⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠ w/ Mike

SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠Registration⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠

Episode 016 SYNGAP1 Stories, August 30, 2023

#SYNGAP1StoriesTony #SynGAP #SYNGAP1 #SYNGAP1Stories #SYNGAP1Stories16 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Keto #School #FirstDayOfSchool #NewSchool

Aug 30, 202351:57
Samar Katnani, SRF Volunteer and Mom to 3yo Syngapian Reema, talks honestly about meds, sharing your story, self-help, fake crying, & much more.

Samar Katnani, SRF Volunteer and Mom to 3yo Syngapian Reema, talks honestly about meds, sharing your story, self-help, fake crying, & much more.

Show Notes

Samar Katnani, SRF Volunteer and Mom to 3-year-old Syngapian Reema, talks honestly about medications, sharing your story, self-help, anxiety associated with caring for Reema, fake crying, & much more. As with all SYNGAP1 Stories, this one gets very personal, and will benefit all of us, especially others caring for someone with a rare disease. Thank you for listening!

Reema’s Warrior Story

More links:

⁠My Reema

⁠Epilepsy Awareness Day is Every Day for Us Now⁠

Augmentative and Alternative Communication (AAC) device

Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠:

⁠SRF Bio⁠

LinkedIn⁠⁠⁠⁠⁠⁠⁠

Facebook⁠⁠⁠

Instagram⁠⁠⁠⁠⁠⁠⁠

⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠

SYNGAP1 Stories ⁠⁠⁠⁠Episode 001⁠⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠

What is SYNGAP1?⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠

Syngap Research Fund⁠⁠ - ⁠https://syngapresearchfund.org⁠

Donate - ⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠

SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠

Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠

How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠

⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠

⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠ w/ Mike

SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠Registration⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠

Episode 015 SYNGAP1 Stories, August 22, 2023

#SYNGAP1StoriesReema #MyReema #Syngap #SYNGAP1 #SYNGAP1Stories #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Keto #Grandparents #SelfCare

Aug 22, 202341:10
Suzanne Jones, SRF BOD chair & Mom to Syngapian Jansen, talks about raising funds for SRF, including the upcoming SynGAP Soirée, and raising Jansen!

Suzanne Jones, SRF BOD chair & Mom to Syngapian Jansen, talks about raising funds for SRF, including the upcoming SynGAP Soirée, and raising Jansen!

Show Notes:

Suzanne Jones, SRF BOD chair & SYNGAP1 Mom, chats with Ashley about the upcoming Syngap Soirée fundraiser in Atlanta, caregivers, eating out (or not!), Jansen’s behavioral issues as well as her recent speech improvements, and advice to parents to modify their expectations when receiving a rare disease diagnosis.


Connect with Suzanne

SRF BIO

  Facebook

  Instagram

  LinkedIn

Jansen’s Warrior Story

Jansen’s Journey

More links:

  Syngap Soirée, Sparks of Hope - Atlanta, GA, August 26, 2023

  Soirée - Instagram

  Soirée - LinkedIn

  Fundraising

  Article on Jansen in Variantyx

  TV Interview of Jones Family by 11 Alive, Atlanta

Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠:

SRF Bio

⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠

⁠⁠⁠Facebook⁠⁠

⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠

⁠⁠Nathan’s Warrior Story⁠⁠

SYNGAP1 Stories ⁠⁠⁠Episode 001⁠⁠⁠ - Ashley Frye

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠

⁠⁠What is SYNGAP1?⁠⁠ ⁠⁠⁠⁠⁠

⁠⁠ Syngap Research Fund⁠⁠ - https://syngapresearchfund.org

Donate - ⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠

⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠

⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠

⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠

⁠⁠⁠ ⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

  ⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠

  ⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠

  ⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠

  ⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠

  ⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠

  ⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠ w/ Mike

SYNGAP1 Conference 2023, hosted by SRF - ⁠Registration⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠

Episode 014 SYNGAP1 Stories, August 8, 2023

#SYNGAP1StoriesJansen #Syngap #SYNGAP1 #SYNGAP1Stories #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Fundraising #Horses #HorseRiding #Caregivers

Aug 08, 202346:13
This week's guest is Stefanie Decker, SYNGAP1 Mom to 5-year-old Saydee, who has "the best smile"!

This week's guest is Stefanie Decker, SYNGAP1 Mom to 5-year-old Saydee, who has "the best smile"!

Show Notes:

Ashley and SYNGAP1 Mom Stefanie Decker chat about 5-year-old Saydee. Diagnosed in 2020, Saydee loves water, is a local “celebrity”, and has “the best smile’! Listen to their SYNGAP1 journey and how they handle the ups and downs of living with a rare disease.

Stefanie’s SRF BIO

Saydee’s Warrior Story

More links:

  2022 Caregiver Connect - blog written by Stefanie

  CHOP Natural History Study

Follow ⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠:

⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠

⁠⁠Facebook⁠⁠

⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠

⁠Nathan’s Warrior Story⁠

SYNGAP1 Stories ⁠⁠Episode 001⁠⁠ - Ashley Frye

SYNGAP1 Stories ⁠⁠Episode 005⁠⁠ - Panda

Panda’s News Story:  ⁠⁠Nathan’s Dog⁠⁠

SRF & SYNGAP1 Info:⁠⁠⁠

⁠What is SYNGAP1?⁠ ⁠⁠⁠

⁠ Syngap Research Fund⁠

Donate: ⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠

⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠

⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠

⁠How to Get Free Genetic Testing⁠⁠⁠⁠

⁠⁠⁠ ⁠Special Needs Trusts⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

  ⁠⁠⁠⁠Facebook⁠⁠⁠⁠

  ⁠⁠⁠⁠Twitter⁠⁠⁠⁠

  ⁠⁠⁠⁠Instagram⁠⁠⁠⁠

  ⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠

  ⁠⁠⁠⁠TikTok⁠⁠⁠⁠

  ⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠ w/ Mike

SYNGAP1 Conference 2023, hosted by SRF - Registration

SRF Newsletter Special ⁠5th Birthday Issue⁠ 6/27/23

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠

Episode 013 SYNGAP1 Stories, July 25, 2023

#SYNGAP1StoriesSaydee #Syngap #SYNGAP1 #SYNGAP1Stories #epilepsy #epilepsyawareness #autism #autismawareness #intellectualdisability #id #anxiety #raredisease #rarediseaseresearch #SynGAPResearchFund #careaboutrare #advocacy #patientadvocacy #neurology #genetictesting #therapy #family #water #sisters #siblings #bestsmile

Jul 25, 202331:07
In this very candid episode, SYNGAP1 Mom Monica Harding opens up to Ashley about her 17-year-old son Jaxon.

In this very candid episode, SYNGAP1 Mom Monica Harding opens up to Ashley about her 17-year-old son Jaxon.

Show Notes:

In this very candid episode, SYNGAP1 Mom Monica Harding opens up to Ashley about her 17-year-old son Jaxon. She describes his first seizures, aggression, going to church, the impact of COVID changing his schedule, and how it affected the entire family. This is an important glimpse into the struggles and joys a strong family living with SYNGAP1 faces.

Monica's SRF bio

Jaxon's Warrior Story

More links:

  Jayden’s Juice

Follow ⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠:

⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠

⁠⁠Facebook⁠⁠

⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠

⁠Nathan’s Warrior Story⁠

SYNGAP1 Stories ⁠⁠Episode 001⁠⁠ - Ashley Frye

SYNGAP1 Stories ⁠⁠Episode 005⁠⁠ - Panda

Panda’s News Story:  ⁠⁠Nathan’s Dog⁠⁠

SRF & SYNGAP1 Info:⁠⁠⁠

⁠What is SYNGAP1?⁠ ⁠⁠⁠

⁠ Syngap Research Fund⁠

Donate: ⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠

⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠

⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠

⁠How to Get Free Genetic Testing⁠⁠⁠⁠

⁠⁠⁠ ⁠Special Needs Trusts⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

  ⁠⁠⁠⁠Facebook⁠⁠⁠⁠

  ⁠⁠⁠⁠Twitter⁠⁠⁠⁠

  ⁠⁠⁠⁠Instagram⁠⁠⁠⁠

  ⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠

  ⁠⁠⁠⁠TikTok⁠⁠⁠⁠

  ⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠ w/ Mike

SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠Hotel Reservations⁠⁠⁠

SRF Newsletter Special ⁠5th Birthday Issue⁠ 6/27/23

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠

Episode 012 SYNGAP1 Stories, July 11, 2023

#SYNGAP1StoriesJaxon #Syngap #SYNGAP1 #SYNGAP1Stories #epilepsy #epilepsyawareness #autism #autismawareness #intellectualdisability #id #anxiety #raredisease #rarediseaseresearch #SynGAPResearchFund #careaboutrare #advocacy #patientadvocacy #neurology #genetictesting #therapy #family #militaryfamily

Jul 11, 202301:00:14
Ashley chats with SRF Co-Founder, and SYNGAP1 Mom to Tony, Ashley Evans on the 5th birthday of SRF!

Ashley chats with SRF Co-Founder, and SYNGAP1 Mom to Tony, Ashley Evans on the 5th birthday of SRF!

Show Notes:

In Episode 11, our host, Ashley, chats with SRF Co-Founder and SYNGAP1 Mom Ashley Evans to celebrate SRF's 5th birthday! They talk about starting SRF, progress made during the past five years, the dedicated community of SRF volunteers, hope for the future, moving, and, of course, Syngapian Tony and his now 5-year-old brother John.

Ashley's SRF bio

Tony's Warrior Story

More links:

Interview with Kayo Conferences

SRF Introductory Video

A Message to the Newly Diagnosed SynGAP-1 Parent

Meet the Global Village of Syngap Leaders

SRF Newsletter Special 5th Birthday Issue 6/27/23

Pathways to a Cure for SYNGAP1

Follow ⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠:

⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠

⁠⁠Facebook⁠⁠

⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠

⁠Nathan’s Warrior Story⁠

SYNGAP1 Stories ⁠⁠Episode 001⁠⁠ - Ashley Frye

SYNGAP1 Stories ⁠⁠Episode 005⁠⁠ - Panda

Panda’s News Story:  ⁠⁠Nathan’s Dog⁠⁠

SRF & SYNGAP1 Info:⁠⁠⁠

⁠What is SYNGAP1?⁠ ⁠⁠⁠

⁠ Syngap Research Fund⁠

Donate: ⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠

⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠

⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠

⁠How to Get Free Genetic Testing⁠⁠⁠⁠

⁠⁠⁠ ⁠Special Needs Trusts⁠⁠⁠⁠

Connect with SRF (@curesyngap1):

  ⁠⁠⁠⁠Facebook⁠⁠⁠⁠

  ⁠⁠⁠⁠Twitter⁠⁠⁠⁠

  ⁠⁠⁠⁠Instagram⁠⁠⁠⁠

  ⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠

  ⁠⁠⁠⁠TikTok⁠⁠⁠⁠

  ⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠ w/ Mike

SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠Hotel Reservations⁠⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠

Episode 011 SYNGAP1 Stories, June 27, 2023

#SYNGAP1StoriesTony #Syngap #SYNGAP1 #SYNGAP1Stories #siblings #SYNGAP1siblings #founder #rarediseasesiblings #epilepsy #epilepsyawareness #autism #autismawareness #intellectualdisability #id #anxiety #raredisease #rarediseaseresearch #SynGAPResearchFund #careaboutrare #advocacy #patientadvocacy #neurology #yoga

Jun 27, 202339:46
Ashley talks with Danielle Williams, Mom to two daughters in Australia, each with SYNGAP1.

Ashley talks with Danielle Williams, Mom to two daughters in Australia, each with SYNGAP1.

Show Notes:

Episode 10 comes from "down under" as Ashley talks with Danielle Williams, Mom to two daughters, now 13 & 11 years old, each with the same de novo SYNGAP1 mutation. They talk about the heartbreaks of two diagnoses, living with no sleep, connecting to the community, advice to newly diagnosed families, and the joys of cuddling with a teenager.

Jaeli & Dali’s Story

Williams Family Story

Raising Awareness in the Early Days

Follow Danielle:  LinkedIn

Danielle's Business Website

Additional Reading - Five Things Parents Need to Know

Danielle Co-Founded the Following Organizations:

  Syngap Research Fund Australia - Facebook Page

  Syngap Global Network

  Genetic Epilepsy Team Australia

Follow ⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠:

⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠

⁠Facebook⁠

⁠⁠⁠⁠Instagram⁠⁠⁠⁠

Nathan’s Warrior Story

SYNGAP1 Stories ⁠Episode 001⁠ - Ashley Frye

SYNGAP1 Stories ⁠Episode 005⁠ - Panda

Panda’s News Story:  ⁠Nathan’s Dog⁠

SRF & SYNGAP1 Info:

What is SYNGAP1?

Syngap Research Fund

Donate: ⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠

SYNGAP1 & Epilepsy⁠⁠⁠

Why Getting a Genetic Diagnosis Matters⁠⁠⁠

How to Get Free Genetic Testing⁠⁠⁠

⁠⁠⁠ Special Needs Trusts⁠⁠⁠

Connect with SRF (@curesyngap1):

  ⁠⁠⁠Facebook⁠⁠⁠

  ⁠⁠⁠Twitter⁠⁠⁠

  ⁠⁠⁠Instagram⁠⁠⁠

  ⁠⁠⁠LinkedIn⁠⁠⁠

  ⁠⁠⁠TikTok⁠⁠⁠

  ⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠ w/ Mike

SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠Hotel Reservations⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠

Episode 010 SYNGAP1 Stories, June 13, 2023

#SYNGAP1SoriesJaeli #SYNGAP1StoriesDali #Syngap #SYNGAP1 #SYNGAP1Stories #siblings #SYNGAP1siblings #rarediseasesiblings #epilepsy #epilepsyawareness #autism #autismawareness #intellectualdisability #id #anxiety #raredisease #rarediseaseresearch #SynGAPResearchFund #careaboutrare #advocacy #patientadvocacy #neurology

Jun 13, 202343:21
If you know about SYNGAP1, you likely know this week's guest Lauren Perry, SRF's Operation Mgr. Lauren & Ashley share stories about Will & more than a few laughs!

If you know about SYNGAP1, you likely know this week's guest Lauren Perry, SRF's Operation Mgr. Lauren & Ashley share stories about Will & more than a few laughs!

Show Notes:

In Episode 9, Ashley talks with SYNGAP1 Mom & SRF Operations Mgr. Lauren Perry. These two talk about Lauren’s  2 teenage sons, including Will, diagnosed in 2016, seizures, and Will’s recent successful VNS replacement surgery. They also chat about his typical day, markers, and pride in the SRF community.

Will’s Warrior Story

VNS Therapy

Follow Lauren:

  Twitter  

Email:  lauren@curesyngap1.org

Follow ⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠:

⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠

⁠Facebook⁠

⁠⁠⁠⁠Instagram⁠⁠⁠⁠

Nathan’s Warrior Story

SYNGAP1 Stories ⁠Episode 001⁠ - Ashley Frye

SYNGAP1 Stories ⁠Episode 005⁠ - Panda

Panda’s News Story:  ⁠Nathan’s Dog⁠

SRF & SYNGAP1 Info:

What is SYNGAP1?

Syngap Research Fund

Donate: ⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠

SYNGAP1 & Epilepsy⁠⁠⁠

Why Getting a Genetic Diagnosis Matters⁠⁠⁠

How to Get Free Genetic Testing⁠⁠⁠

⁠⁠⁠ Special Needs Trusts⁠⁠⁠

Connect with SRF (@curesyngap1):

  ⁠⁠⁠Facebook⁠⁠⁠

  ⁠⁠⁠Twitter⁠⁠⁠

  ⁠⁠⁠Instagram⁠⁠⁠

  ⁠⁠⁠LinkedIn⁠⁠⁠

  ⁠⁠⁠TikTok⁠⁠⁠

  ⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠ w/ Mike

SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠Hotel Reservations⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠

Episode 009 SYNGAP1 Stories, May 30, 2023

#SYNGAP1storiesWill #Syngap #SYNGAP1 #SYNGAP1Stories #VNStherapy #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

May 30, 202338:11
Ashley chats with Certified Christian Life Coach Heather Bensch about her daughter McKaela, who was diagnosed with SYNGAP1 as an adult.

Ashley chats with Certified Christian Life Coach Heather Bensch about her daughter McKaela, who was diagnosed with SYNGAP1 as an adult.

Show Notes:

In Episode 8, Ashley talks with SYNGAP1 Mom Heather Bensch, whose daughter McKaela was diagnosed in her 20s. Heather talks about her struggles getting a diagnosis as well as the joys of raising McKaela. Heather is a certified life coach working with and advocating for the special needs community.

McKaela’s Warrior Story

McKaela’s Spark for Autism Story

McKaela’s Facebook Blog

A Sister’s Promise - a post to McKaela from her sister Plum

Follow Heather:

Facebook

Instagram

Twitter

TikTok

Pinterest

Heather’s Business (Except Defeat Life Coaching) Links:

  Email:  exceptdefeatlifecoaching@gmail.com

Phone: 731/612-8083

Website

Facebook

Grief and Resilience with our SRF Patient Advocacy Group, co-written by Heather

Follow ⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠:

⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠

⁠Facebook⁠

⁠⁠⁠⁠Instagram⁠⁠⁠⁠

Nathan’s Warrior Story

SYNGAP1 Stories ⁠Episode 001⁠ - Ashley Frye

SYNGAP1 Stories ⁠Episode 005⁠ - Panda

Panda’s News Story:  ⁠Nathan’s Dog⁠

SRF & SYNGAP1 Info:

What is SYNGAP1?

Syngap Research Fund

Donate: ⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠

SYNGAP1 & Epilepsy⁠⁠⁠

Why Getting a Genetic Diagnosis Matters⁠⁠⁠

How to Get Free Genetic Testing⁠⁠⁠

⁠⁠⁠ Special Needs Trusts⁠⁠⁠

Connect with SRF (@curesyngap1):

  ⁠⁠⁠Facebook⁠⁠⁠

  ⁠⁠⁠Twitter⁠⁠⁠

  ⁠⁠⁠Instagram⁠⁠⁠

  ⁠⁠⁠LinkedIn⁠⁠⁠

  ⁠⁠⁠TikTok⁠⁠⁠

  ⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠ w/ Mike

SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠Hotel Reservations⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@curesyngap1.org

Music: ⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠

Episode 008 SYNGAP1 Stories, May 16, 2023

#SYNGAP1StoriesMcKaela #Syngap #SYNGAP1 #SYNGAP1Stories #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

May 16, 202337:15
Peter Halliburton, SYNGAP1 Dad & head of SRF's Resource Mobilization team, joins Ashley.

Peter Halliburton, SYNGAP1 Dad & head of SRF's Resource Mobilization team, joins Ashley.

Show Notes:

In episode 7, SYNGAP1 Dad Peter Halliburton joins Ashley to discuss volunteering with SRF in the "early days" compared to now, receiving his son Carter's diagnosis, dealing with seizures, changing doorknobs, and appreciating the joys in Carter's daily life.

Carter's Warrior Story

Follow Peter Halliburton:

Instagram

Twitter

LinkedIn

Contact Peter at peter@curesyngap1.org.

More about the Halliburton Family:

Halliburton Family Video

Cook Children's Hospital Article

Blog by Peter - 8 Months on the Rollercoaster of - Mostly - Uncontrolled Epilepsy

Blog by Peter - What Do You Mean, "Cure SYNGAP1"

⁠⁠Cannonball For A Cure⁠

Follow ⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠:

⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠

⁠Facebook⁠

⁠⁠⁠⁠Instagram⁠⁠⁠⁠

Nathan’s Warrior Story

SynGAP Stories ⁠Episode 001⁠ - Ashley Frye

SynGAP Stories ⁠Episode 005⁠ - Panda

Panda’s News Story:  ⁠Nathan’s Dog⁠

SRF & SYNGAP1 Info:

What is SYNGAP1?

Syngap Research Fund

Donate: ⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠

SYNGAP1 & Epilepsy⁠⁠⁠

Why Getting a Genetic Diagnosis Matters⁠⁠⁠

How to Get Free Genetic Testing⁠⁠⁠

⁠⁠⁠ Special Needs Trusts⁠⁠⁠

Connect with SRF (@curesyngap1):

  ⁠⁠⁠Facebook⁠⁠⁠

  ⁠⁠⁠Twitter⁠⁠⁠

  ⁠⁠⁠Instagram⁠⁠⁠

  ⁠⁠⁠LinkedIn⁠⁠⁠

  ⁠⁠⁠TikTok⁠⁠⁠

  ⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠ w/ Mike

SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠Hotel Reservations⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@syngapresearchfund.org

Music: ⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠

Episode 007 SynGAP Stories, May 2, 2023

#SyngapStoriesCarter #Volunteer #SRFVolunteer #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

May 02, 202346:01
It's Ashley's turn, as she talks about her beginnings of volunteering for SRF and what she's working on now! Pickleball, anyone?

It's Ashley's turn, as she talks about her beginnings of volunteering for SRF and what she's working on now! Pickleball, anyone?

Show Notes:

In episode 6, we turn the tables on our host. Ashley talks about volunteering for SynGAP Research Fund, organizing the SYNGAP1 Conference 2023 hosted by SRF, and the first SynGAP Paddle Slap coming up on May 6 in Oxford, MS.

SYNGAP1 Conference 2023, hosted by SRF - Hotel Reservations

SynGAP Paddle Slap - https://Syngap.Fund/Paddle23

  USA Pickleball

  The Oxford Park Commission

  The Farmstead, Oxford, MS

  Live Band - Rocket 88

  Bounce Castles donated by Blue Line Inflatables

Follow ⁠⁠⁠Ashley Frye⁠⁠⁠:

  ⁠⁠⁠Facebook⁠⁠⁠

  ⁠⁠⁠LinkedIn⁠⁠⁠

  ⁠⁠⁠Instagram⁠⁠⁠

Nathan’s Warrior Story: ⁠⁠⁠https://www.syngapresearchfund.org/syngap-warrior/nathan⁠⁠⁠

SynGAP Stories Episode 001 - Ashley Frye

SynGAP Stories Episode 005 - Panda

Panda’s News Story:  Nathan’s Dog

Cannonball For A Cure

What is SYNGAP1: ⁠⁠https://www.syngapresearchfund.org/home/what-is-syngap1⁠⁠

Syngap Research Fund: ⁠⁠https://www.syngapresearchfund.org/⁠⁠

Donate: ⁠⁠https://Syngap.Fund/Donate⁠⁠

⁠⁠SYNGAP1 & Epilepsy⁠⁠

⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠

⁠⁠How to Get Free Genetic Testing⁠⁠

⁠⁠Special Needs Trusts⁠⁠

Connect with SRF (@curesyngap1):

  ⁠⁠Facebook⁠⁠

  ⁠⁠Twitter⁠⁠

  ⁠⁠Instagram⁠⁠

  ⁠⁠LinkedIn⁠⁠

  ⁠⁠TikTok⁠⁠

  ⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠ w/ Mike

Wednesday SRF Family Zoom Meeting:

⁠⁠Syngap.Fund/SRFfam⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@syngapresearchfund.org

Music: ⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠

Episode 006 SynGAP Stories, April 18, 2023

#SyngapStoriesPaddleSlap #SRFConference #Pickleball #Volunteer #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology


Apr 18, 202331:01
How Can a Service Dog Help Your SYNGAP1 or Other Rare Disease Child? Listen as Cecilia Anastos Chats with Ashley.

How Can a Service Dog Help Your SYNGAP1 or Other Rare Disease Child? Listen as Cecilia Anastos Chats with Ashley.

Show Notes:

In Episode 5, Ashley talks with Cecilia Anastos, Founder and Lead Trainer of Meridus K9 & Equine LLC, providing service and emotional support dogs among other services. Panda was recently placed with the Frye family to be Ashley's son Nathan's service dog. In this episode, Cecilia answers the questions, “Can a service dog replace a human?”, “What are the most important things service dogs do?” and “Can service dogs save a child’s life?”

Reach Cecilia at: cecilia@meridusk9.com

Website:  www.meridusk9.com

LinkedIn:  http://www.linkedin.com/in/ceciliaanastos

Previous SRF Webinars:  Webinar #52 and Webinar #65

Panda’s News Story:  ⁠Nathan’s Dog

What is SYNGAP1: ⁠⁠https://www.syngapresearchfund.org/home/what-is-syngap1⁠⁠

Syngap Research Fund: ⁠⁠https://www.syngapresearchfund.org/⁠⁠

Donate: ⁠⁠https://Syngap.Fund/Donate⁠⁠

⁠⁠SYNGAP1 & Epilepsy⁠⁠

⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠

⁠⁠How to Get Free Genetic Testing⁠⁠

⁠⁠Special Needs Trusts⁠⁠

Connect with SRF (@curesyngap1):

  ⁠⁠Facebook⁠⁠

  ⁠⁠Twitter⁠⁠

  ⁠⁠Instagram⁠⁠

  ⁠⁠LinkedIn⁠⁠

  ⁠⁠TikTok⁠⁠

  ⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠ w/ Mike

Follow ⁠⁠Ashley Frye⁠⁠:

  ⁠⁠Facebook⁠⁠

  ⁠⁠LinkedIn⁠⁠

  ⁠⁠Instagram⁠⁠

Nathan’s Warrior Story: ⁠⁠https://www.syngapresearchfund.org/syngap-warrior/nathan⁠⁠

Wednesday SRF Family Zoom Meeting:

⁠⁠Syngap.Fund/SRFfam⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@syngapresearchfund.org

Music: ⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠

Episode 005 SynGAP Stories, April 4, 2023

#SyngapStoriesPANDA #SyngapStoriesServiceDogs #ServiceDogs #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Apr 04, 202332:13
Kali Worth, SYNGAP1 Mom to Kailyn (Kai) is Ashley's guest.

Kali Worth, SYNGAP1 Mom to Kailyn (Kai) is Ashley's guest.

Show Notes:

In Episode 4, Ashley talks with SYNGAP1 Mom Kali Worth. Kali talks about missing milestones, epilepsy, genetic testing, expanding your community as a rare parent as well as the joys Kailyn (Kai) brings to her life.

Kai’s Warrior Story:  https://www.syngapresearchfund.org/syngap-warrior/kai

Read Kali's SRF bio, blogs and a video of Kai’s story here.

Follow Kali on Twitter:  https://twitter.com/WorthKali

What is SYNGAP1: ⁠https://www.syngapresearchfund.org/home/what-is-syngap1⁠

Syngap Research Fund: ⁠https://www.syngapresearchfund.org/⁠

Donate: ⁠https://Syngap.Fund/Donate⁠

⁠SYNGAP1 & Epilepsy⁠

⁠Why Getting a Genetic Diagnosis Matters⁠

⁠How to Get Free Genetic Testing⁠

⁠Special Needs Trusts⁠

Connect with SRF (@curesyngap1):

  ⁠Facebook⁠

  ⁠Twitter⁠

  ⁠Instagram⁠

  ⁠LinkedIn⁠

  ⁠TikTok⁠

  ⁠SYNGAP10 Weekly Video Podcast⁠ w/ Mike

Follow ⁠Ashley Frye⁠:

  ⁠Facebook⁠

  ⁠LinkedIn⁠

  ⁠Instagram⁠

Nathan’s Warrior Story: ⁠https://www.syngapresearchfund.org/syngap-warrior/nathan⁠

Wednesday SRF Family Zoom Meeting:

⁠Syngap.Fund/SRFfam⁠ Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@syngapresearchfund.org

Music: ⁠In the Forest... by Lesfm from Pixabay ⁠

Episode 004 SynGAP Stories, March 21, 2023

#SyngapStoriesKAILYN #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Mar 21, 202332:33
Ashley's Guest - SRF Community Activation Leader Corey Baysden
Mar 07, 202333:53
Ashley talks to SRF Co-founder Mike Graglia

Ashley talks to SRF Co-founder Mike Graglia

Show Notes:

Ashley talks with SRF Co-founder and Syngap Dad Mike Graglia. Mike talks about founding SRF with his wife, Ashley Evans & raising a Syngapian child. He offers his best advice to new SYNGAP1 parents.

What is SYNGAP1: https://www.syngapresearchfund.org/home/what-is-syngap1

Syngap Research Fund: https://www.syngapresearchfund.org/

Donate: https://www.syngapresearchfund.org/donate/donate#googtrans(en|en)

Mike Graglia: https://www.syngapresearchfund.org/team/mike-graglia

Ashley Evans: https://www.syngapresearchfund.org/team/ashley-evans-mphil-mba-co-founder

Mike & Ashley’s Story: https://youtu.be/lLO2hsAi4-M & feature in Newsweek:  https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362

Tony’s Warrior Story: https://www.syngapresearchfund.org/syngap-warrior/tony

Number Blocks:  https://www.netflix.com/title/81272431

Connect with SRF:

Facebook: https://www.facebook.com/cureSYNGAP1

Twitter: https://twitter.com/intent/user?screen_name=cureSYNGAP1

Instagram: https://www.instagram.com/curesyngap1/

LinkedIn: https://www.linkedin.com/company/curesyngap1/

TikTok: https://www.tiktok.com/@curesyngap1

SYNGAP10 Weekly Video Podcast with Mike: https://www.youtube.com/playlist?list=PLjpr3a14_ls38mAeOZeErFpEjbrw5mGhR

Follow Ashley Frye:

Facebook: https://www.facebook.com/ashley.hewettfrye

LinkedIn: https://www.linkedin.com/in/ashley-frye-62095582/

Instagram:  https://www.instagram.com/fryemom/

Nathan’s Warrior Story: https://www.syngapresearchfund.org/syngap-warrior/nathan

Wednesday SRF Family Zoom Meeting:

Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417

Comments: ed@syngapresearchfund.org

Music: In the Forest... by Lesfm from Pixabay 

Episode 002 SynGAP Stories, February 21, 2023

#Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Feb 21, 202326:33
Our Host - Ashley Frye tells her family's SYNGAP1 Story

Our Host - Ashley Frye tells her family's SYNGAP1 Story

Show Notes:

Host Ashley Frye discusses her family's journey to a SYNGAP1 diagnosis for her son Nathan and living with and caring for a young child with a rare disease.

What is SYNGAP1:  https://www.syngapresearchfund.org/home/what-is-syngap1

Syngap Research Fund:  https://www.syngapresearchfund.org/

Follow Ashley:

Facebook:  https://www.facebook.com/ashley.hewettfrye

LinkedIn:  https://www.linkedin.com/in/ashley-frye-62095582/

Nathan’s Warrior Story:  https://www.syngapresearchfund.org/syngap-warrior/nathan

Connect with SRF:

Facebook:  https://www.facebook.com/cureSYNGAP1

Twitter:  https://twitter.com/intent/user?screen_name=cureSYNGAP1

Instagram:  https://www.instagram.com/curesyngap1/

LinkedIn:  https://www.linkedin.com/company/18940628/admin/

TikTok:  https://www.tiktok.com/@curesyngap1

SYNGAP10 Weekly Video Podcast with Mike:  https://www.youtube.com/playlist?list=PLjpr3a14_ls38mAeOZeErFpEjbrw5mGhR

Cannonball For A Cure:  https://www.syngapresearchfund.org/post/pr-12-ufd-tech-hosts-second-annual-cannonball-for-the-cure-charity-stream-to-benefit-syngap-research-fund

Wednesday Zoom Meeting for Syngap Families:

Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417

Comments and suggestions:  ed@syngapresearchfund.org

Music:  In the Forest... by Lesfm from Pixabay 

Episode 001 SynGAP Stories, February 7, 2023

#Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id  #anxiety #raredisease #epilepsyawareness #autismawareness  #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy  #GCchat #Neurology

Feb 07, 202329:06
Trailer

Trailer

Welcome to Syngap Stories, a podcast dedicated to stories from the Syngap community about living with a rare, untreatable genetic disorder.


What is SYNGAP1:  https://www.syngapresearchfund.org/home/what-is-syngap1

Syngap Research Fund:  https://www.syngapresearchfund.org/


Follow Ashley:  

 Facebook:  https://www.facebook.com/ashley.hewettfrye

 LinkedIn:  https://www.linkedin.com/in/ashley-frye-62095582/

 

Connect with SRF:  

 Facebook:  https://www.facebook.com/cureSYNGAP1

 Twitter:  https://twitter.com/intent/user?screen_name=cureSYNGAP1

 Instagram:  https://www.instagram.com/curesyngap1/

 LinkedIn:  https://www.linkedin.com/company/18940628/admin/

 TikTok:  https://www.tiktok.com/@curesyngap1

 SYNGAP10 Weekly Video Podcast with Mike:  https://www.youtube.com/playlist?list=PLjpr3a14_ls38mAeOZeErFpEjbrw5mGhR

 

Wednesday Zoom Meeting for Syngap Families:

Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417


Comments and suggestions:  ed@syngapresearchfund.org


Music:  In the Forest... by Lesfm from Pixabay  


Episode 000 SynGAP Stories, January 22, 2023

#Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Jan 24, 202301:10