Where did that ‘Understanding my Syngap Brain!’ post come from?
SEPTEMBER 6, 2019
Virginie McNamar is a Syngap parent, Patient Engagement Director at Syngap Research Fund and co-founder of Syngap Global Network. Her mission is to provide support to families affected by Syngap1 and promote collaboration between all the Syngap1 stakeholders. She has a blog for her son called Ty’s Super Syngapian Life.
Virginie & Ty at Splash for Syngap, 2019
We received my son’s Syngap1 diagnosis in November 2016. He was 16 months old at the time and all of our hope that he would catch up one day were just crushed.
I spent hours researching and learning more about Syngap, wishing I had some medical background to help me navigate this new world. It was difficult to decipher all the new medical and scientific terms.
I just wanted to understand what it meant to have Syngap and how it would affect my son’s brain.
With the help of my brother (he is a doctor), Syngap1 scientists, and other Syngap parents, I was able to wrap my head around it and was able to explain in simple terms to anyone asking “What is Syngap?”
A few months ago, I wrote this simple description and shared it in late August with the Syngap community so other families can also explain why their child is different. I’m so happy to see how many parents have shared these words with pictures of their children, it’s an important reminder: we are all in this together.
Understanding my Syngap Brain!
I am not your typical kid and here is why:
It all starts with a very simple typo on the syngap gene. That one letter change broke the gene that is now unable to send the right instructions to produce the amount of Syngap protein needed to have a good functioning brain.
The photo of Ty that accompanied the original ‘Understanding my Syngap Brain!’ post on August 26, 2019
The syngap protein is very important to regulate the connections between neurons. Without the proper regulations, my neurons fire too fast and too often. It might sound like a good thing but it’s not.
It’s too much, too fast, too often like having constant background static, faulty wiring and even short circuits.
Our brains control everything so when it is not wired properly, it creates a lot of challenges. Syngap brains are not all wired exactly the same way but here are some common things we have to deal with:
It’s hard to concentrate and learn new things. (Intellectual Disability)
My senses that control how I experience sounds, touches, visual,movements are difficult to control. Sometimes it’s too much for me and sometimes I need a lot more input to function (Sensory Processing Disorder)
When things are too much to process my brain can Snap and It makes me do things I can’t control, I simply lose it. (Behaviors)
The signals between my brain and my muscles are often broken (Apraxia: fine,gross motor planning and speech issues)
It’s often hard to shut down when it’s time to sleep (sleep issues)
Sometimes all that activity causes short circuits (seizures).
Ty’s amazing smile
Ty undergoing an EEG to study his Syngapian brain