Dance To The Best Of Your Own Drum

July 7, 2017 by Virginie

Ty was born on a stormy July 14th, 2015. He announced himself with a healthy, loud scream.

Ty is our third child and by far the easiest baby. He slept through the night right away, nursed like a champ, loved hugs, and was always smiling.

Around 4 months I noticed he was not interested in rolling over or looking at toys. He was just very content laying on his back and interacting with people. Everyone assured me that he was fine, just lazy, and I should be thrilled to have such a happy and content baby. Deep down, I knew something was off.

Around 7 months when he was still not sitting on his own, he qualified for PT with early intervention. Our biggest challenges at this time were his low muscle tone, lack of motivation/interest, and motor planning.

I had a feeling that his delays were not just due to laziness, something else was causing it and I wanted to know why. We were extremely lucky to have a Pediatrician who listened to our concerns and referred us right away to a Pediatric Geneticist. He ordered a microarray analysis that came back normal.

The Geneticist had a hunch that something else was going on and recommended running the full exome sequencing.

While waiting for the results, Ty started OT. His therapist told us Ty had Sensory Processing Disorder (SPD). Thanks to sensory therapy, Ty woke up! He started being a lot more engaged and curious about the world around him and made a lot of progress.

8 weeks later, the results of the full exome sequencing came back.

I remember the day of the diagnosis, November 30th, 2016. The genetic consultant had prepared a full presentation for us. Before she started going over everything I asked if they had answers. When she said yes, I felt like i was punched in the stomach. I guess I was still hanging on to the hope that SPD and Hypotonia were the only diagnosis we would receive!

She gave us a crash course in basic genetics, then she turned the page and there it was in big letters: INTELLECTUAL DISABILITY. That’s the first thing I remember seeing. I fell apart! She explained that Ty has Syngap1, a rare genetic disorder discovered only in 2009 and that they don’t know much about it. Our best bet would be to get in touch with other families. I heard the words Intellectual disabilities, global delays, autism, epilepsy, nonverbal etc., and I felt utter disbelief.

 I had spent hours searching online trying to find what could be causing Ty’s delays but I never came across Syngap. I had never heard of it and had no idea what Syngap was, yet this new 6 letter-word will be changing our lives forever.

That day, our family roadmap took a dramatic turn. It is a very scary and powerless feeling. We officially have a special needs child! We were not prepared for it.

The most heartbreaking part is that our perfect little boy will have to fight and work very hard all his life to reach all the milestones that come so naturally to most of us! And we can’t fix that! As a parent it is a very hard fact to face.

We wondered if he will be able to live on his own, get a job, get married, who will care for him when we are gone, etc. Thinking that far ahead could drive us crazy! We can’t predict these things for our other two kids either. We had to shift our focus to the present, take one day at a time, and celebrate every little milestone.

In a short time, all the work  he did at therapy paid off. Things clicked in his brain and he was able to transition from lying down to sitting, sitting to crawling, crawling to standing, and taking a few steps. That deserved a big celebration! It gave us HOPE!

Our journey is a little different than most Syngap families who had to wait many years to get answers. We were extremely fortunate to have a very early diagnosis when Ty was just 16 months old.  We were given a head start. Thanks to the amazing Syngap community, we know what other kids and families are going through and we can be pro-active in Ty’s therapy and health plan.

Ty is a very happy little boy, loves music, food, swimming, and hanging out with other kids. He gives the best hugs and his smile lights up the room.

We haven’t seen the full effect of Syngap yet. We hope research will make progress quickly so Ty and the other Syngap kids have access to a better life and brighter future!