Our Family Focused Newsletters
Our goal is to communicate the latest on the SYNGAP1 Science Frontiers and share the progress of our SYNGAP1 (MRD5) Natural History Study and Registry. The data we are providing to our researchers and clinicians is setting the stage for clinical trials and helping find new mechanisms (functions) of the SYNGAP1 protein. We invite you to join our Members Directory to keep up on the latest in SYNGAP1 clinical studies and current events and happenings in the SYNGAP1 Community.
April Newsletter 2019
Featuring the Largest SYNGAP1 Cohort StudyApril Newsletter 2019
August Newsletter 2019
Featuring the Updated SYNGAP1 NORD Paper
Jojo DeBord - Family Advisory Board Chair
- Family Advisory Council with members of Bridge the Gap – SYNGAP ERF will provide guidance on how to improve patient/family engagement, experience, and organization initiatives.
- As part of this process, patients and families are invited to serve on our committees to ensure that the family point of view, perspective, and experience are not only heard but also integrated into the mission.
- Through unique perspectives, they give input on issues that impact care, ensuring that the next patient or family member’s journey is easier.
Bethany Aldecoa brings a passion around healthcare reform, education, and disability advocacy to the Parent Advisory Council for Bridge the Gap. Her 7-year-old daughter, Collete “Coco”, was diagnosed with Syngap1 in 2018. Being a parent of a child diagnosed wth Syngap1 has pushed Bethany to be the best advocate possible for her daughter, and she hopes to bring that perspective to the PAC.
Bethany resides in Pheonix, AZ with her husband Robert and their two children. She works as a Supply Chain Planner & Buyer for Corning Incorporated and holds her BA from Arizona State University.
Bethany and her family love to spend time traveling, cycling, enjoying music & searching for the world’s best donut.
Candace Gross Taylor
Candace Taylor Gross is married to Kevin Gross we have two daughter’s Isabella almost 10 and Alana who is 7. Our first born Bella was diagnosed with Syngap here at Texas children’s in the medical center. Native Houstonians.
Shane Norris is the father of Colby (9) who was diagnosed in 2017. He is married to his wonderful wife of almost 17 years Rebecca and they have two older daughters, Sydney (15) and Mia (12). Shane has been in the Insurance industry for over 18 years and in Human Resources for the past 10 years.
My name is Jasmine Hall and I am married to my best friend and a mother to two beautiful boys. My oldest son was diagnosed with Syngap 1 at sixteen months old. That’s when our entire world shifted and the search for answers began. However, I love sharing our experience with our son’s rare genetic disorder, because it brings awareness to the disease.
Melanie Battye and I am mum to Saskia who has a diagnosis of Syngap1. Saskia was one of the first three children diagnosed in 2012 from the DDD (Dysphering Developmental Delay) study in the UK. To be told in 2012 that you are one of only 3 children in the UK and 16 in the world was quite an isolating prospect. If you look at the Syngap1 journey over the last 7 years you can truly see how far as a community we have come, and when you look at that, then ask yourself where we will be within the next 7 years.
I am excited to embark on this journey / chapter of my life with BTG and help represent the families of the UK, to help raise awareness in promoting Syngap1, raise funds for the UK research team and families, and also unite the families of Syngap1 with social activities so that it reduces their feelings of isolation.
Married to Mark with 3 kids, Andrew (25) Anna (22) and Tommy (18). Our 3rd angel was born on June 27, 2000. We knew there was something not quite right from birth, then when he wasn’t meeting milestones as our older children had and the search began right away. We’ve pulled out all the stops, treating every symptom as it surfaces and trying every intervention I could come across. And finally, in October of 2017, we had our diagnosis after an exhaustive search for 17 years… for all the challenges, seizures, and developmental/cognitive delays. It is through Bridge the Gap I have found my home and support. We are on our way! Never give up, never stop.
Erin Poirer is married to Andrew and they are the parents to two girls diagnosed with SYNGAP in January 2018. Their daughter’s names are Lily age 8 and Elise age 6. Erin stays at home with the girls and is involved in many special needs boards and committees.
Brenda Weegman is an oncology RN at Regions Hospital in St Paul, MN. Her husband and she have three children; Hana (13), Bret (8), and Danika (6). They also have 2 dogs, 7 birds and a variety of fish tanks. Syngap1 is something she has lived with for 6 years, but only recently learned about when Danika was diagnosed in July, 2018. She is proud to represent Bridge the Gap as part of the Family Advisory Council and is excited to see what the future holds for us!
Michele Giblin lives in the Republic of Ireland with her husband and three children. Her youngest daughter was diagnosed with Syngap1 in 2016 when she was 6 years old. Michele is building awareness for Syngap1 in her home country, and works to the motto ‘Think Wide, Collaborate and Connect’. There is much to be gained in sharing and working together, and she is pleased to be part of the Family Advisory Council.