SYNGAP1 Stories

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: [email protected] 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

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: [email protected] 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

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 [email protected]. 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: [email protected] 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

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: [email protected] 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

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: [email protected] 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

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: [email protected] 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