Bridge the Gap - SYNGAP Education and Research Foundation

Your donations are urgently needed for Bridge the Gap to help us find better treatments and a cure for our daughter. Rare Disease Day this year is February 29, 2020.

 

Mary just turned three years old. She has the biggest, most genuine smile. She loves playing in the water, listening to music and her favorite books. She is so beautiful and precious. 

Around 9 months old, we noticed that she was not developing like she should. She would learn a sign or a word, like "milk" or "deeyah" for Daddy, but then would forget it. She would not eat food and would not crawl. Then, as she got older, she developed seizures.

We saw a lot of doctors and specialists to figure out what was wrong, and about one year ago, we received the results from her genetic testing that she has a SYNGAP1 genetic variation. Most people have never heard of it. None of her doctors at the time had ever heard of it. We actually had to educate many of them on the disorder. As far as we know, there are only a few hundred people in the world diagnosed with it. Because of her SYNGAP1 mutation, she has more than 100 brief seizures per day, intellectual disability, sensory processing disorder, and she is still non-verbal.

The SYNGAP1 gene has instructions to create the SYNGAP1 protein which is responsible for the communication between neurons in your brain. Think about it like this: Mary may have as many as 100 billion neurons in her brain. Each one of those neurons can connect to up to 10,000 other neurons. Every one of those connections doesn’t work right in Mary’s brain because of the SYNGAP1 mutation.

The SYNGAP1 gene was discovered in 2009. Even though there are only a few hundred diagnosed cases of SYNGAP, researchers think as many as 1 out of 100 cases of intellectual disability are caused by this disorder. 



Mary, and kids like her, need your help. We hope for better treatments and a cure. These kids are really suffering. Hundreds of seizures per day, intellectual disability, issues communicating, behavioral issues, and autism. It’s no way for anyone to live. We believe that we can find a cure and treatments for our kids. We know that Bridge the Gap can help!

Bridge the Gap - SYNGAP Education and Research Foundation  provides specialized programs and services that help support families like ours and the entire SYNGAP1 community.  

Awareness - Raising SYNGAP1 awareness globally.

Advocacy - Advocating for policies and programs that benefit
                              SYNGAP1 patients and families.
Research - Raising funding to accelerate SYNGAP1 research.

Family Meet Ups and Scientific Conferences - Providing
opportunities for families, clinicians, researchers and other
SYNGAP1 community stakeholders to meet, share information
and collaborate.

SYNGAP1 Centers of Excellence - Partnering with medical and
academic institutions to launch multi-specialty SYNGAP1 clinics,
where patients can receive comprehensive healthcare, provided by 
the world's leading SYNGAP1 experts.
 
SYNGAP1 (MRD5) Natural History Registry - Launched in 2015,
in collaboration with the National Association of Rare Disorders
(NORD) and the FDA, the registry is maintained by Bridge the Gap -
ERF.  Data from the registry is being utilized by clinicians and
researchers to aid in the understanding of SYNGAP1 prevalence, 
symptoms, biomarkers and development of research trial design.   
          
Please, be our Hero by today!  Your generous donation will help support our family, and families like ours, find better treatments and a cure for SYNGAP1.  

Action = Impact

Remember, every single donation brings us one step closer to a better life for those affected by SYNGAP1!

Thank you in advance for your contribution to this cause that means so very much to us.

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.

My son Adam was diagnosed 5 years ago with a rare non-syndromic intellectual disability known as Syngap1. This rare disease is roughly affecting 250 individuals globally. Adam’s symptoms include, seizure disorder, limited speech, walking with assistance and an oral aversion resulting in a feeding tube. Adam’s daily activities consist of going to school, physical therapy, occupational therapy, speech and feeding therapy. Crawling from toy to toy can be an exhausting and challenging obstacle for Adam and other Syngap1 Children.
As Gap Bridgers, we are a team of seven athletes that will be raising money for syngap1 research while participating in the 2018 Tough Mudder New England. 

Tough Mudder is an endurance event series in which participants attempt 10–12 mile-long obstacle courses that tests mental as well as physical strength. By participating in this event, it give us all a sense of the daily struggles that Adam and other Syngap children experience. https://toughmudder.com/ 

We ask that you help us by donating to raise money for Syngap1 research and education. All the funds raised will be donated to Bridge the Gap foundation. www.bridgesyngap.org