Hope for Tommy! Let’s beat Syngap1!

Meet Tommy, our Syngap1 warrior!- Age 19 

Your donations and support are urgently needed for Bridge the Gap to help us and all Syngap families find treatments, fund research to find a cure for our son. Rare Disease Day this year is February 29.

Our youngest child was born perfect in every way. Shortly after his birth we started to notice some issues with his feeding and general development. We spent countless hours in the pediatric office trying to figure out what was happening with our son. It took 17 years and very intensive and aggressive testing before we finally got our diagnosis...  Tommy has Syngap 1. Our neurologist had never heard of this disease. In all my years of studying and researching his symptoms I never heard of Syngap1. Now we were dealing with a whole new diagnosis to go with the intractable epilepsy.   We now had an answer... the syngap gene is responsible for how the neurons in the brain interact with each other and as a result rewires how his brain works.  Medically, it causes significant seizures, severe intellectual and cognitive delays, speech delays and behavioral challenges. We see it all.

Of course when he was born the SYNGAP1 gene was unknown.  We knew only that Tommy was missing milestones and developing more slowly than his siblings.  He had therapies, tests and interventions to help him develop but none of his team could explain the "why"

At  11-months we noticed his first seizure.  Looking back now, he was having seizures since the early days of his life.  He was started on epilepsy medicine to control the seizures  and we thought we would be good.  Over the years the types of seizures that impact him have changed as has the medicines used to help control them.  Today he takes three seizure medicines along with pills to regulate his mood., behavior and address the sleep disorder.  With all this, we still notice seizures every day.   

To help figure out the "why,"  we traveled to specialists in New York, Cleveland, Pittsburgh, Baltimore and the National Institutes of Health.  He underwent EEGs, MRIs, Sleep Studies, Spinal Taps, muscle biopsies and gallons of blood tests.  For 17 years we were offered many theories but no answers.
   
It was not until 2017 that a genetic test pinpointed his issue - a splice deletion of the SYNGAP1 gene.  After 17 years of treating his "problems" we had identified the "why."   

Genetic science is advancing at a staggering pace.  Tommy's first genetic test in 2000 checked six genes, in 2017 the test checked 20,000 genes.    The research to discover these genes and the problems the cause is only possible through funding from grants and donations.  Tommy's SYNGAP disorder is rare.  There are around 500 documented cases in the world (two in Virginia).  

This year, 2/29/2020 is Rare Disease Day and I am asking for your help to fund research to understand SYNGAP and work toward treatments and, in time, a cure.  To do so I have joined "Bridge the Gap - SYNGAP Education & Research Foundation."  This non-profit was started by parents of SYNGAP patients to provide information, answers and most importantly mutual support for families.    

Tommy is a happy and joyful young man.  Every day of his life he faces difficulties that I can not begin to imagine.  Through it all he smiles, laughs and brings our family great joy.  Please consider a donation to this organization in honor of  Rare Disease Day. 

More information about Bridge the Gap - SYNGAP Education & Research Foundation: Our mission is to serve, educate and fund research for families coping with the effects of Synagp mutations. Our international outreach for Syngap children gathers critical information needed to drive research towards more immediate therapeutic solutions. Our goal is to improve the quality of life for people affected by Synagp, provide family support, accelerate research and raising awareness. For every family and every child with SYNGAP provides information that can guides us to a cure.