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

Williams Family Story

Raising Awareness in the Early Days

Follow Danielle:  LinkedIn

Danielle's Business Website

Additional Reading - Five Things Parents Need to Know

Danielle Co-Founded the Following Organizations:

  Syngap Research Fund Australia - Facebook Page

  Syngap Global Network

  Genetic Epilepsy Team Australia

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 - ⁠⁠Hotel Reservations⁠⁠

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 010 SYNGAP1 Stories, June 13, 2023

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