SYNGAP1 Stories
Subscribed: 0Played: 3
Subscribe
© Syngap Research Fund, 501(c)(3)
Description
SYNGAP1-related disorders are rare genetic disorders that affect Rainy Schlosser's daughter Hope and Jo Ashline's son Andrew. As of July 1, 2025, there are only 1,636 people in the world diagnosed with SYNGAP1. There is no cure. In each episode of SYNGAP1 Stories, first developed by Ashley Frye and continued by Rainy and Jo, we chat with SYNGAP1 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 SYNGAP1 community.
38 Episodes
Reverse
New co-host Jo Ashline jumps right in with a touching, insightful conversation with Kari, full of uplifting and challenging experiences and advice, connecting the entire SYNGAP1 community.If you liked this episode, please give our podcast 5 stars! All episodes are also available at cureSYNGAP1.org/Stories.Trajan's Warrior StoryConnect with Kari:kari@cureSYNGAP1.orgKari's SRF bioConnect with Jo:Andrew's Warrior Storyjo@cureSYNGAP1.orgJo's SRF bioFollow Jo on InstagramJo's personal blog pageEpisode Links:Combined Federal Campaign (CFC)Kari's speech at the 2025 SYNGAP1 GalaInformation about CHOP NHSInformation about Colorado NHS (CHCO)Register for the 2025 Cure SYNGAP1 Conference in AtlantaSRF & SYNGAP1 Info:Syngap Research Fund - https://cureSYNGAP1.org/What are SYNGAP1-related disorders?How Many People Have SYNGAP1?SYNGAP1 Resources for Newly Diagnosed FamiliesDonate to SRFSRF SYNGAP1 BrochureGet Involved with SRFVolunteer with SRFSRF Fundraising Resource PageSRF's State Ambassador ProgramWednesday WarriorsSupporting SYNGAP1 SiblingsSYNGAP1 & EpilepsyAddressing the Symptoms of SYNGAP1SYNGAP1 Studies and Trials:SYNGAP1 StudiesSYNGAP1 ProMMiS – Prospective Multidisciplinary, Multisite Study for Clinical Excellence: CHOP, CHCO, StanfordCitizen HealthClinical TrialsFrazier Eye StudyThe EMERALD TrialMore Links:Why Getting a Genetic Diagnosis MattersHow to Get Free Genetic TestingSpecial Needs TrustsSRF GrantsSRF's Medical Considerations DocumentConnect with SRF (@cureSYNGAP1):LinkedInFacebookInstagramYouTubeX/TwitterTikTokSYNGAP10 Weekly Video Podcast w/ MikeSynGAP Research Fund Apple Podcast ChannelFamily Zoom Meeting (bi-weekly on Wednesdays, 8PM ET): cureSYNGAP1.org/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417Comments: ed@cureSYNGAP1.orgMusic: In the Forest... by Lesfm from Pixabay Episode 037 SYNGAP1 Stories, September 3, 2025#SYNGAP1StoriesTrajan #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp37 #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 #CFC #NavyVeteran #Veteran #WhaleWatching
If you liked this episode, please give our podcast 5 stars! All episodes are also available at cureSYNGAP1.org/Stories.Kiera's Warrior StoryLipman Family MovieFifth Annual SRF Gala for SYNGAP1 – 2025Donate and TicketsCaren - oldest known person with SRDKathryn Helde - keynote speaker at GalaConnect with John:SRF BioFollow on LinkedIn (2nd account)Other Episode Links:Get Involved with SRFVolunteer with SRFSRF Fundraising Resource PageSRF's State Ambassador ProgramConnect with Rainy:rainy@cureSYNGAP1.orgRainy's SRF BioInstagram - @Hope4theCureYouTube - @Hope4theCureFacebook - Hope SelahMaySYNGAP1 Stories Episode 028Rainy and Hope's Cross Country QuestSRF Event Links:Beacon of Hope: A Benefit for SYNGAP1Fourth Annual Scramble for SynGAP – 2025SRF CalendarSRF & SYNGAP1 Info:Syngap Research Fund - https://cureSYNGAP1.org/What is SYNGAP1-related disorders?How Many People Have SYNGAP1?SYNGAP1 Resources for Newly Diagnosed FamiliesRegister for the 2025 Cure SYNGAP1 Conference in AtlantaDonate to SRFSRF SYNGAP1 BrochureWednesday WarriorsSupporting SYNGAP1 SiblingsSYNGAP1 & EpilepsySYNGAP1 Studies and Trials:SYNGAP1 StudiesSYNGAP1 ProMMiS – Prospective Multidisciplinary, Multisite Study for Clinical Excellence: CHOP, CHCO, StanfordCitizen HealthClinical TrialsFrazier Eye StudyThe EMERALD StudyMore Links:Why Getting a Genetic Diagnosis MattersHow to Get Free Genetic TestingSpecial Needs TrustsSRF GrantsSRF's Medical Considerations DocumentConnect with SRF (@cureSYNGAP1):FacebookTwitterInstagramLinkedInTikTokYouTubeSYNGAP10 Weekly Video Podcast w/ MikeSynGAP Research Fund Apple Podcast ChannelFamily Zoom Meeting (bi-weekly on Wednesdays, 8PM ET): cureSYNGAP1.org/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417Comments: ed@cureSYNGAP1.orgMusic: In the Forest... by Lesfm from Pixabay Episode 036 SYNGAP1 Stories, August 4, 2025#SYNGAP1StoriesKiera #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp36 #Fundraising #GalaForSyngap1 #Volunteer #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #CureSyngap1Conf #SYNGAP1Siblings #Caregiver #SelfHelp #Conf25 #Therapy
This is another open and honest discussion of living with SYNGAP1-related disorders - the difficulties Jackson has faced, the tremendous achievements he has made, and helping each other in the SYNGAP1 community.If you liked this episode, please give our podcast 5 stars! All episodes are also available at cureSYNGAP1.org/Stories.Jackson's Warrior StoryConnect with Nicole:Follow on FacebookNicole's "Dear Syngap" PostFollow on InstagramConnect with Rainy:rainy@cureSYNGAP1.orgRainy's SRF BioInstagram - @Hope4theCureYouTube - @Hope4theCureFacebook - Hope SelahMaySYNGAP1 Stories Episode 028Rainy and Hope's Cross Country QuestEpisode Links:Citizen HealthFifth Annual SRF Gala for SYNGAP1 – 2025Beacon of Hope: A Benefit for SYNGAP1Fourth Annual Scramble for SynGAP – 2025SRF & SYNGAP1 Info:Syngap Research Fund - https://cureSYNGAP1.org/What is SYNGAP1-related disorders?How Many People Have SYNGAP1?SYNGAP1 Resources for Newly Diagnosed FamiliesPre-register for the 2025 Cure SYNGAP1 Conference in AtlantaDonate to SRFSRF SYNGAP1 BrochureGet Involved with SRFVolunteer with SRFSRF Fundraising Resource PageSRF's State Ambassador ProgramWednesday WarriorsSupporting SYNGAP1 SiblingsSYNGAP1 & EpilepsySYNGAP1 Studies and Trials:SYNGAP1 StudiesSYNGAP1 ProMMiS – Prospective Multidisciplinary, Multisite Study for Clinical Excellence: CHOP, CHCO, StanfordClinical TrialsFrazier Eye StudyMore Links:Why Getting a Genetic Diagnosis MattersHow to Get Free Genetic TestingSpecial Needs TrustsSRF GrantsSRF's Medical Considerations DocumentConnect with SRF (@cureSYNGAP1):FacebookTwitterInstagramLinkedInTikTokYouTubeSYNGAP10 Weekly Video Podcast w/ MikeSynGAP Research Fund Apple Podcast ChannelFamily Zoom Meeting (bi-weekly on Wednesdays, 8PM ET): cureSYNGAP1.org/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417Comments: ed@cureSYNGAP1.orgMusic: In the Forest... by Lesfm from Pixabay Episode 035 SYNGAP1 Stories, July 1, 2025#SYNGAP1StoriesJackson #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp35 #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
This episode gets very personal about the language of behaviors, a long road to a SYNGAP1 diagnosis, the strength of the SRF community, as well as the personal crisis of Andrew's emotional and physical abuse to which he was subjected when he was ten.If you liked this episode, please give our podcast 5 stars! All episodes are also available at cureSYNGAP1.org/Stories.Connect with Jo:Andrew's Warrior Storyjo@cureSYNGAP1.orgJo's SRF bioFollow Jo on InstagramJo's personal blog pageJo's SRF Blogs:We Were Searching for Syngap; We Just Didn’t Know ItMeet the Global Village of Syngap LeadersConnect with Rainy:rainy@cureSYNGAP1.orgRainy's SRF BioInstagram - @Hope4theCureYouTube - @Hope4theCureFacebook - Hope SelahMaySYNGAP1 Stories Episode 028Rainy and Hope's Cross Country QuestEpisode Links:Splash For SyngapSRF Blog CollectionSRF Advocacy PageCalifornia's Self Determination ProgramTraveling with Special Needs BlogsEdSource articleCBS News articleNBC News articleSRF & SYNGAP1 Info:Syngap Research Fund - https://cureSYNGAP1.org/What is SYNGAP1-related disorders?How Many People Have SYNGAP1?SYNGAP1 Resources for Newly Diagnosed FamiliesPre-register for the 2025 Cure SYNGAP1 Conference in AtlantaDonate to SRFSRF SYNGAP1 BrochureGet Involved with SRFVolunteer with SRFSRF Fundraising Resource PageSRF's State Ambassador ProgramWednesday WarriorsSupporting SYNGAP1 SiblingsSYNGAP1 & EpilepsyAddressing the Symptoms of SYNGAP1SYNGAP1 Studies and Trials:SYNGAP1 StudiesSYNGAP1 ProMMiS – Prospective Multidisciplinary, Multisite Study for Clinical Excellence: CHOP, CHCO, StanfordClinical TrialsFrazier Eye StudyCitizen HealthMore Links:Why Getting a Genetic Diagnosis MattersHow to Get Free Genetic TestingSpecial Needs TrustsSRF GrantsSRF's Medical Considerations DocumentConnect with SRF (@cureSYNGAP1):FacebookTwitterInstagramLinkedInTikTokYouTubeSYNGAP10 Weekly Video Podcast w/ MikeSynGAP Research Fund Apple Podcast ChannelFamily Zoom Meeting (bi-weekly on Wednesdays, 8PM ET): cureSYNGAP1.org/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417Comments: ed@cureSYNGAP1.orgMusic: In the Forest... by Lesfm from Pixabay Episode 034 SYNGAP1 Stories, June 5, 2025#SYNGAP1StoriesAndrew #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp34 #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 #SplashForSyngap
Show NotesEric Moulton talks with Rainy about his daughter Phoebe - going to a French-language school, her chance epilepsy diagnosis, getting involved in finding a cure, and raising over $60,000 for SYNGAP1 research. "Once you have that diagnosis, it really rocks your world, it changes your expectations - then what are you going to do about it?"All episodes are available at cureSYNGAP1.org/Stories.Connect with Eric and Emily:Phoebe's Warrior StoryPhoebe's Fight - Sprint4Syngap Pageeric@cureSYNGAP1.orgebrimsek@cureSYNGAP1.orgEric's SRF bioEmily's SRF bioConnect with Rainy:rainy@cureSYNGAP1.orgRainy's SRF BioInstagram - @Hope4theCureYouTube - @Hope4theCureFacebook - Hope SelahMaySYNGAP1 Stories Episode 028Rainy and Hope's Cross Country QuestSRF & SYNGAP1 Info:Syngap Research Fund - https://cureSYNGAP1.org/What is SYNGAP1-related disorders?How Many People Have SYNGAP1?SYNGAP1 Resources for Newly Diagnosed FamiliesPre-register for the 2025 Cure SYNGAP1 Conference in AtlantaDonate to SRFSRF SYNGAP1 BrochureGet Involved with SRFVolunteer with SRFSRF Fundraising Resource PageSRF's State Ambassador ProgramAdvocate for SYNGAP1Wednesday WarriorsSupporting SYNGAP1 SiblingsSYNGAP1 & EpilepsyAddressing the Symptoms of SYNGAP1SYNGAP1 Studies and Trials:SYNGAP1 StudiesSYNGAP1 ProMMiS – Prospective Multidisciplinary, Multisite Study for Clinical Excellence: CHOP, CHCO, StanfordClinical TrialsFrazier Eye StudyCitizen HealthMore Links:Why Getting a Genetic Diagnosis MattersHow to Get Free Genetic TestingSpecial Needs TrustsSprint4Syngap 2025 (donation page and resource guide)SRF GrantsSRF's Medical Considerations DocumentConnect with SRF (@cureSYNGAP1):FacebookTwitterInstagramLinkedInTikTokYouTubeSYNGAP10 Weekly Video Podcast w/ MikeSynGAP Research Fund Apple Podcast ChannelFamily Zoom Meeting (bi-weekly on Wednesdays, 8PM ET): cureSYNGAP1.org/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417Comments: ed@cureSYNGAP1.orgMusic: In the Forest... by Lesfm from Pixabay Episode 033 SYNGAP1 Stories, April 8, 2025#SYNGAP1StoriesPhoebe #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp33 #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 #Sprint4Syngap
Show NotesSRF’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.orgKathryn's SRF bioConnect with Rainy:rainy@cureSYNGAP1.orgRainy's SRF BioInstagram - @Hope4theCureYouTube - @Hope4theCureFacebook - Hope SelahMaySYNGAP1 Stories Episode 028SRF & SYNGAP1 Info:What is SYNGAP1-related disorders?Syngap Research Fund - https://cureSYNGAP1.org/SYNGAP1 Resources for Newly Diagnosed FamiliesPre-register for the 2025 Cure SYNGAP1 Conference in AtlantaDonate to SRFGet Involved with SRFVolunteer with SRFSRF Fundraising Resource PageSRF's State Ambassador ProgramAdvocate for SYNGAP1Wednesday WarriorsSupporting SYNGAP1 SiblingsSYNGAP1 & EpilepsyAddressing the Symptoms of SYNGAP1SYNGAP1 Studies and Trials:SYNGAP1 StudiesSYNGAP1 ProMMiS – Prospective Multidisciplinary, Multisite Study for Clinical ExcellenceClinical TrialsFrazier Eye StudyCitizen HealthMore Links:Heather Mefford, MD, PhDWhy Getting a Genetic Diagnosis MattersHow to Get Free Genetic TestingSpecial Needs TrustsSprint4Syngap 2025 (donation page and resource guide)SRF GrantsSRF Press ReleasesSRF's Medical Considerations DocumentConnect with SRF (@cureSYNGAP1):FacebookTwitterInstagramLinkedInTikTokYouTubeSYNGAP10 Weekly Video Podcast w/ MikeSynGAP Research Fund Apple Podcast ChannelFamily Zoom Meeting (bi-weekly on Wednesdays, 8PM ET): cureSYNGAP1.org/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417Comments: ed@cureSYNGAP1.orgMusic: 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
Show NotesWe're back with a double interview. Chelsey Navarro, SRF's Science Writer, and Anthony Navarro, SRF's Resource Mobilization Director in charge of fundraising, talk with Rainy about grieving after the diagnosis, finding SRF, volunteering, and reaching out to others to expand your community of support. All episodes are available at cureSYNGAP1.org/Stories.Emmy's Warrior StoryEmmy's Family MovieConnect with Chelsey and Anthony:anthony@cureSYNGAP1.orgchelsey@cureSYNGAP1.orgChelsey's SRF bioAnthony's SRF bioLabNomads and Traveling with Special Needs BlogsConnect with Rainy:rainy@cureSYNGAP1.orgRainy's SRF BioInstagram - @Hope4theCureYouTube - @Hope4theCureFacebook - Hope SelahMaySYNGAP1 Stories Episode 028SRF & SYNGAP1 Info:What is SYNGAP1-related disorders?Syngap Research Fund - https://cureSYNGAP1.org/SYNGAP1 Resources for Newly Diagnosed FamiliesPre-register for the 2025 Cure SYNGAP1 Conference in AtlantaDonate to SRFGet Involved with SRFVolunteer with SRFSRF Fundraising Resource PageSRF's State Ambassador ProgramWednesday WarriorsSupporting SYNGAP1 SiblingsSYNGAP1 & EpilepsyAddressing the Symptoms of SYNGAP1SYNGAP1 Studies and Trials:SYNGAP1 StudiesSYNGAP1 ProMMiS – Prospective Multidisciplinary, Multisite Study for Clinical ExcellenceClinical TrialsFrazier Eye StudyCitizen HealthAdults with SYNGAP1 StudyHispanic Phenotype Study with CHOPMore Links:Why Getting a Genetic Diagnosis MattersHow to Get Free Genetic TestingSpecial Needs TrustsSprint4Syngap 2025 (donation page and resource guide)SRF GrantsSRF Press ReleasesSRF's Medical Considerations DocumentTSA CaresBecker's Muscular DystrophyConnect with SRF (@cureSYNGAP1):FacebookTwitterInstagramLinkedInTikTokYouTubeSYNGAP10 Weekly Video Podcast w/ MikeSynGAP Research Fund Apple Podcast ChannelFamily Zoom Meeting (bi-weekly on Wednesdays, 8PM ET): cureSYNGAP1.org/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417Comments: ed@curesyngap1.orgMusic: In the Forest... by Lesfm from Pixabay Episode 031 SYNGAP1 Stories, February 18, 2025#SYNGAP1StoriesEmmy #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp31 #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
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:
zoe@cureSYNGAP1.org
Zoe's SRF bio
Zoe's Instagram
Zoe's Facebook
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?
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: ed@curesyngap1.org
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
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
stacey@cureSYNGAP1.org
Stacey'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?
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: ed@curesyngap1.org
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
Show Notes
Rainy Schlosser is in the middle of a 7,500 mile drive-a-thon to participate in 3 studies to help find a cure for SYNGAP1. She talks with Ashley about the studies, her daughter Hope's incredibly difficult medical journey, what makes Hope happiest, an EEG with Curious George, and the wonderful connections they are making along the way! This is a fundraiser, so please check out Syngap.Fund/Hope4theCure!
All episodes are available at Syngap.Fund/Stories.
Hope's Warrior Story
My SYNGAP1 Drive-a-thon, Hope4theCure
Connect with Rainy & Hope:
Instagram - @Hope4theCure
YouTube - @Hope4theCure
Facebook - Hope SelahMay
Other Links
Cannonball for the Cure
Connect with Ashley:
afrye@curesyngap1.org
Ashley's 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
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
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
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 028 SYNGAP1 Stories, April 11, 2024
#SYNGAP1StoriesHope #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp28 #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 #Hope4theCure #Driveathon
Show NotesIn 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 StoryConnect with Jackie:jackie@curesyngap1.orgJackie's SRF bioLinkedInOther LinksSRF SYNGAP1 Resources for Education & AdvocacySYNGAP1: Background, Development, and the Impact on ChildrenInformation on ABA - Applied Behavior Analysis - Link 1; Link 2Severe Behaviors and Advocacy, SRF Webinar #53 by JackieExploring Advocacy: Finding and Refining Your Voice - webinar hosted by JackieJackie has misc. links (news, media, etc.) hereConnect with Ashley:afrye@curesyngap1.orgAshley's SRF BioLinkedInFacebookInstagramNathan’s Warrior StorySYNGAP1 Stories Episode 001 - Ashley FryeConnect with Jessica:jjohnson@curesyngap1.orgKai's Warrior StorySRF & SYNGAP1 Info:What is SYNGAP1? Syngap Research Fund - https://curesyngap1.org/SYNGAP1 Resources for Newly Diagnosed FamiliesWednesday WarriorsSupporting SYNGAP1 SiblingsDonate - https://Syngap.Fund/DonateSYNGAP1 & EpilepsyWhy Getting a Genetic Diagnosis MattersHow to Get Free Genetic TestingSpecial Needs TrustsSYNGAP1 Family Day 2023 – A Beacon of Hope! (blog with videos)Pre-register for SYNGAP1 Conference 2024Connect with SRF (@curesyngap1):FacebookTwitterInstagramLinkedInTikTokSYNGAP10 Weekly Video Podcast w/ MikeSynGAP Research Fund Apple Podcast ChannelFamily Zoom Meeting (Weekly on Wednesdays, 8PM ET):Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417Sibling Zoom Meeting (Monthly on 1st Thursday, 8PM ET):Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417Comments: ed@curesyngap1.orgMusic: 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
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
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
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
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
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
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
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
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
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
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 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
Comments
Download from Google Play
Download from App Store
United States