SYNGAP1 Patient & Family Stories

SYNGAP1 - Awareness, Advocacy, Education & Research

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


SYNGAP1 Children and Families Have Many Beautiful Faces and Stories to Share...


Meet Some of Our Amazing
SYNGAP1 Children & Families

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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