SYNGAP1 Stories

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 wit...

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  Warrio...

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 Jans...

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 His...

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 Wa...

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...

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 Willi...

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@c...

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’...

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@curesyng...

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    T...

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 thin...

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:   htt...

Show Notes: In Episode 3, Ashley talks with SYNGAP1 Mom Corey Baysden. Corey talks about the joys of raising Saylor as well dealing with a difficult diagnosis and finding a community in SRF. As SRF Community Activation Leader, Corey communicates with and advocates for many newly diagnosed families. You can reach her at corey@syngapresearchfund.org. Saylor’s Warrior Story:   https://www.syngap...

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/dona...

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: &...

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:   http...