Patients-Caregivers

SYNGAP1 - Patients, Caregivers & Families

SYNGAP1- Awareness, Advocacy, Education & Research

WE ARE COMMITTED TO SUPPORTING SYNGAP1
PATIENTS, FAMILIES & CAREGIVERS EVERY SINGLE DAY!

Become a Bridge the Gap Member Today!
Membership Benefits Include:

Access to SYNGAP1 Resources
BTG's Family Newsletter - Quarterly
Connect with other SYNGAP1 Families
Opportunities to Get Involved
BTG's - Monthly Newsletter
Priority Registration at Bridge the Gap Events

Click Here to Join
Bridge the Gap!

SYNGAP1 community resources

Patient and Caregiver Resources

Production and distribution of our SYNGAP1 Resource Guide was made possible by a generous educational grant from Greenwich Biosciences.

BTG - Family Meet Ups
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Our SYNGAP1 Family Meet Ups Provide Empowering Experiences!
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Meet and Connect with other SYNGAP1 Families
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Schedule an appointment and be seen by a SYNGAP1 Clinical Expert(s)
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Learn about current SYNGAP1-related Research and opportunities to participate
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Learn about resources for SYNGAP1 Patients and Families
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Attend Educational Presentations provided by leading SYNGAP1 Clinical and Research Experts
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Opportunities to engage with SYNGAP1 Clinical and Research Experts
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Mini Conference Sessions include time for discussion and questions

The primary objective of our SYNGAP1 Family Meet Ups' is to empower the patient and stress the importance of their involvement in driving research.

Our SYNGAP1 Family Meet Ups are structured to maximize opportunities for SYNGAP1 Patients and Families to connect with other families, SYNGAP1 Clinical and Research Experts.

Bringing all the stakeholders together, provides a unique opportunity to share information about importance of patient advocacy and how patient and family participation in ongoing research is already accelerating the pathway to better treatments.

Appointment Time

Huganir Lab Tour - 1st - Family Meet Up in 2017
Johns Hopkins School of Medicine, Baltimore, MD

SYNGAP1 Family Meet Up Schedule Structure
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*All SYNGAP1 Family Meet Ups are Scheduled in Coordination with a SYNGAP1 Clinical Center of Excellence

DAY 1

Appointments with SYNGAP1 Clinical Experts/Researchers
Scheduled Activity Time to Meet with other SYNGAP1 Families
Tour of SYNGAP1 Research Lab

DAY 2

All Day Mini Conference for SYNGAP1 Families
*Child Care Provided
Presentations by
  SYNGAP1 Clinical Experts
  SYNGAP1 Researcher Experts
*Topics Include (examples)
  New SYNGAP1 & Related Research
  Latest Clinical Care Guidelines & Recommendations
  Learn About Opportunities to Participate in Research
  Community Resource Information
  SYNGAP1 Genetics

Check out our Family Meet Up & Mini Conference page

Learn More

BTG - FAMILY MEET UP LOCATIONS HAVE INCLUDED:
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SYNGAP1 Center of Excellence
Kennedy Krieger Institute, Johns Hopkins School of Medicine
Baltimore, Maryland, USA

SYNGAP1 Center of Excellence
Texas Children's Hospital, Baylor College of Medicine
Houston, Texas, USA

CHU-Sainte Justine Research Centre, University de Montreal
Montreal, Quebec, Canada
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The Patrick Wild Centre, University of Edinburgh
Edinburgh, Scotland - UK

participating Sites

Find a SYNGAP1 Center of Excellence

We've collaborated with the world's leading clinicians and healthcare centers to form, SYNGAP1 Centers of Excellence, where SYNGAP1 patients and families can access comprehensive care and the latest treatments.

“The clinicians at all our SYNGAP1 Clinics are absolutely phenomenal.
They listen and care about finding treatments for our SYNGAP1 Patients!”
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~ Jojo DeBord,
SYNGAP1 Parent
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“The SYNGAP1 Centers of Excellence (at Texas Children's Hospital) couldn’t have come at a better time.

The experience of the entire team made me feel I had a voice and they truly cared about my child.”

~ Candice Gross Taylor
SYNGAP1 Parent
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Atrium Health -Southeast USA SYNGAP1 Center of Excellence *Collaborative Partner

Charlotte, NC

View Organization

Joe DiMaggio Children's Hospital -Southeast USA SYNGAP1 Center of Excellence *Collaborative Partner

Hollywood, FL

View Organization

Stanford Children's Health - SYNGAP1 Center of Excellence

Palo Alto, CA

View Organization

Kennedy Krieger Institute, Johns Hopkins School of Medicine - SYNGAP1 Center of Excellence

Baltimore, MD

View Organization

Texas Children's Hospital, Baylor College of Medicine - SYNGAP1 Center of Excellence

Houston, Texas

View Organization

SYNGAP1 Clinical-Research Experts
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Our SYNGAP1 Clinical - Research Experts, provide high quality healthcare for SYNGAP1 Patients, in accordance with the latest SYNGAP1 Clinical Guidelines.

They prioritize working closely with each SYNGAP1 patient/family to determine the best course of treatment. Each Clinical - Research Expert is also actively involved in conducting SYNGAP1-related scientific research.
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Click Below To Learn More

SYNGAP1 Clinical Experts

BTG - FAMILY ADVISORY COUNCIL
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Committed to Building a Better Future for All SYNGAP1 Patients and Families

Our Family Advisory Council is comprised of BTG - SYNGAP1 Family Members. The council prioritizes the recognition and integration of BTG - SYNGAP1 patient and family points of view, perspectives and experiences into BTG's overall mission.

They provide invaluable guidance to our organization on many programs and initiatives including:
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Patient/Family Engagement
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Patient/Family Experience
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Organization Programs &
Initiatives
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Fundraising Projects

BTG - SYNGAP1 patients and families are invited to volunteer and serve on Family Advisory Council committee's.
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Click Below To Meet Our Council Members

Family Advisory Council

Interested in joining the
BTG - Family Advisory Council or volunteering on a committee?

We would love to hear from you!
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Rare Disease Research Needs
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Rare Disease Patient, Family, Caregiver, Insight & Input
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Bridge the Gap is actively seeking SYNGAP1 Families to participate in ongoing clinical research studies at BTG - SYNGAP1 Centers of Excellence.

If you have questions about participating or would like more information, please reach out to our SYNGAP1 Research Team by clicking on the button below:

BTG - Research Team

Clinical Research Opportunities for SYNGAP1 Patients/Families

Click on a study below to learn more about the study & how you can participate

Jacques Michaud, MD, PhD
Director of Research
CHU Sainte-Justine
Research Center
Professor of Pediatrics &
Neurosciences
Université de Montréal

“We are entering an era of rapid scientific discovery. We can succeed in harnessing the great power of these advances by working together.

By forging connections between the children and their families, the physicians who care for them and a growing community of scientists, we are able to make the fastest possible progress in our understanding of this condition to improve the outcome.”

SYNGAP1 Children and Families Have Many Beautiful Faces and Stories to Share...
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Meet Some of Our Amazing
SYNGAP1 Children & Families

"A New Normal"

“Jadyn is now a healthy 6-year-old girl. Her seizures have finally been controlled after trying her 7th medicine, Lamictal.”

"A New Normal"

Jojo ~ Jadyn's Mom

Texas

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My Miracle

February 7, 2011 my whole world changed. My baby hadn’t moved in my womb the way she had been. I went to the doctor, they did a sonogram, and I was told I would have to have an emergency c section. At 1:54 pm my Elizabeth Grace was born; she was perfect, she needed oxygen at first but only for a short while. We were released normally, no delays....

My Miracle

Lori j. Sedlachek ~ Lizzy's Mom

Texas

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English & French: "Finding Hope"

This is our story, the story of a child, waiting for 8 years and then this birth, which we give joy to finally be parents. We do not know how one becomes a parent; you learn to be – our natural instinct to guide us this far...

English & French: "Finding Hope"

Manuela Hernandez ~ Juliano's Mom

France

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SYNGAP1? What the heck is that?

Five and a half years ago, we took our beautiful baby girl home from the hospital. Life couldn’t have been more perfect.

SYNGAP1? What the heck is that?

Matthew & Emese de Bohun ~ Mundi's Parents

Hungary

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OUR JOURNEY TO SYNGAP1 DIAGNOSIS

Ena was born 20.02.2011. My happiness knew no bounds, I thanked God that gave me because I was desperate to. Childbirth has passed without problems, one received a score of 9. My dear, sweet, happy girl and I have a few days later arrived in a maternity home. Ena was a good baby…

OUR JOURNEY TO SYNGAP1 DIAGNOSIS

Mirjana Calic - Ena's Mom

Serbia

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Beckett's Story

When Beckett was 4 months old, I noticed he was not meeting the same milestones as his twin sister Pyper. Soon after, while I observed Pyper continuing to meet her milestones, Beckett fell further behind. Thus, the journey to find answers to help my son...

Beckett's Story

Monica Weldon ~ Beckett's Mom

Houston, TX

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There is Hope!

I felt there was something different about my daughter Hope even as far back as when I was pregnant with her. I kept having these recurring dreams that she was disabled. I was so adamant that something was wrong...

There is Hope!

Sharon Taylor-Collum ~ Hope's Mom

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Finding the Normal Button

Around age 2. We knew something was going on with our little Payton. She wasn’t talking as much as her sister. It took her almost 17 months to walk. We always called her our quiet child. During this time, we started looking into tests and procedures to uncover what’s going on with Payton…

Finding the Normal Button

The Durett Family ~ Payton's Parents

California

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