SYNGAP1 Stories

Show Notes: "When your kids are tiny, we've all said it ... 'Nobody can take care of this kid but us!' And we believed that ... until about a year ago." Mike Graglia, Co-Founder and CEO of CURE SYNGAP1, and Dad to Syngapian Tony, joins Jo to talk about the latest chapter in raising Tony, diagnosed with SYNGAP1 -Related Disorders in 2018. It's not always easy to talk about...

Part 2 of host Jo Ashline's amazing chat with Beata Tarasiuk continues. Today, Beata shares her dream for all families living with SYNGAP1 -Related Disorders as they dive deep into starting the Polish community, the importance of international collaboration and inclusion, volunteering for CURE SYNGAP1, and advocating for adult Syngapians. "There is hope for improvement! If the epilepsy st...

In Part One of this interview, Beata and Jo discuss finding a school for Kasia and the tremendous choices and sacrifices parent caregivers must make in the face of a devastating diagnosis. Overcoming her own personal grief to go public about Kasia's journey, Beata began sharing her story, and advocating internationally to help raise awareness of SYNGAP1-Related Disorders and the need for findi...

This episode is packed with insightful advice and personal stories filled. "All he did was miss milestones. There was nothing medically wrong at the time. So we got genetic testing, and SYNGAP1 came back. For us, it was crushing, because there was no more hope that he would just catch up. Our world was turned upside down." If you liked this episode, please give our podcast 5 stars! All e...

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 Story Connect with Kari: kari@cureSYNGAP1.org Kari...

If you liked this episode, please give our podcast 5 stars! All episodes are also available at ⁠⁠⁠⁠⁠cureSYNGAP1.org/Stories⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ . ⁠ Kiera's Warrior Story ⁠ Lipman Family Movie Fifth Annual SRF Gala for SYNGAP1 – 2025⁠⁠ Donate and Tickets Caren - oldest known person with SRD Kathryn Helde - keynote speaker at Gala Connect with John: SRF Bio Follow on ⁠⁠ LinkedIn ( 2nd account ) Other...

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 Story Connect with Nicole:...

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 w...

Show Notes Eric 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 ⁠⁠cureSYNGA...

Show Notes SRF’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...

Show Notes We'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...

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 . ⁠...

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 sta...

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...

Show Notes In 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...

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 St...

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...

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 Oth...

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/Sto...

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...

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 -...

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 othe...

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...

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 epi...

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 up...