September 19, 2023

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

1 hour 8 minutes

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

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