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Stories >    Beckett | SYNGAP1

"Believe the mom gut, believe in what you do and never stop fighting for your child."

Beckett is a twin, born in 2008.  I noticed at about 4 months old he was not keeping up with his twin sister. He was not sitting up, kind of like a limp noodle and he would scream, like a “colicky baby”. I knew there was something wrong. So at his six month checkup I shared with his doctor that Beckett was not making any attempt to crawl, he could barely roll over, and appeared to have low muscle tone. That was when Beckett received the diagnoses of developmental delay. By one year he was barely sitting up, he was not crawling. Compared to his twin sister who was walking since 9 months of age I knew something was wrong.

At this time I’d changed pediatricians, so he had two different pediatricians, and lots of upper respiratory infections, pneumonia, ear infections etc.  I also thought he was having seizures at 14 months. They sent me to his first neurologists. They did an EEG, a CAT Scan and found nothing. Their explanation was “newborn reflexes”. I pointed out that he was 14 months, not a newborn.

We started therapy with Beckett at 8 months, we had OT, PT, and added play therapy. We had food therapy because he wouldn’t eat. He was only babbling, not talking yet. That is when we put him in Early Childhood Intervention (ECI). At about 2 to 2 1/2 we finally got an MRI which was unremarkable, however they did notice that white matter in his brain was delayed in developing. Even though they said this was unremarkable, I knew enough to know this wasn’t right. With my background as a science teacher, and because of my undergrad course work, I knew enough to be concerned, but this was all happening before they mapped out the human genome.

Beckett finally walked at 22 months, I was so happy, I just cried. He had a baby walker, and leg braces. He also had flat head syndrome, so he wore a helmet to help shape his skull. By this point Beckett had about 14 different specialists, he still sees 8 of them now. They sent us to a genetics center, center for autism, and a developmental center. They didn’t know then what they know now but still no diagnosis was offered, the developmental center suggested he had Pervasive Developmental Disorder-Not Otherwise Specified (PDD NOS). They stated he was not on the autism spectrum because he made eye contact, and he was social. But when I took him out in public, he was a normal looking kid who just starts throwing a fit. People would actually say to me “can’t you control your child?”

The Geneticist was wonderful, they looked for something genetic but they didn’t even know about SYNGAP1 at all, there was only one clinical paper on it. The geneticist is the one that suggested an exome DNA test, that probably is not covered by insurance, and there is only a 20% chance we will find anything. We had to finance the test but we went ahead with it. It was the best investment I made in my life. We found a mutation in the SYNGAP1gene. There was only 6 people with this gene mutation that caused intellectual disability, in the world.

We now had an explanation for his seizure activity; over 85%+ of children with SYNGAP1 have absence seizures, which are hard to diagnose. There is also abnormal brain activity with sleeping and chewing reflex, this explains a lot with Beckett and helped us to find the right medication. Through better understanding more about SYNGAP1 and what it affects we have been able to find the right medications that improved his behavior, his ability to sleep, improved his ability to learn and I can even take him to the store now.

I decided to build a foundation to find more people like my son and to raise awareness about SYNGAP1. Through donations we have been able to support publications about SYNGAP1, identify links between SYNGAP and other conditions such as schizophrenia, Parkinson’s and Alzheimer’s disease. And through our foundation and increased awareness, the last year alone there were 32 publications on SYNGAP1. Now we even have genetic companies partnering with our foundation. We are getting about 15 new cases per year, we have hit every continent with a SYNGAP1 mutation. We probably have over 75 different countries with a SYNGAP1 patients in it right now.

Getting access right now is the biggest thing, access to genetic testing, access to the right doctors and to the care we need. And erasing the stigma because you are going to be discriminated against. Believe the mom gut, believe in what you do and never stop fighting for your child.

Register below to learn about what genetic testing opportunities exist.