SYNGAP1 Stories
Hosted by Ashley Frye
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:
[email protected]
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: [email protected]
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
November 28, 2023
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: [email protected]
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: [email protected]
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
November 14, 2023
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: [email protected]
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
October 31, 2023
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: [email protected]
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
October 17, 2023
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: [email protected]
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
October 3, 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.
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
September 19, 2023
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: [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
September 12, 2023
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 [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
August 30, 2023
SYNGAP1 Stories
SYNGAP1 is a rare disease that affects Ashley Frye's son Nathan. Fewer than 1,200 patients have been diagnosed as of January, 2023. 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, will be discussed in this heart-warming series as we support the SynGap community.
Host
Ashley Frye
Ashley has an MBA and is the mother of two boys, Liam and Nathan. She lives in Oxford, MS, where she is using her professional experience to bring awareness and fundraising abilities to SRF.
Ashley's son Nathan has been developmentally delayed since he was six months old. In December of 2020 at age 3-1/2, he was diagnosed with SYNGAP1 after an EEG identified epileptic activity. Per Ashley, "I've been a staunch advocate for Nathan his entire life, knowing that something just wasn't right. Now that we have a diagnosis, I will be an even harder working advocate for him and all the other SYNGAP1 families until we have a clinical trial for therapeutic treatment."
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