SynGap1: Searching for the Truth About Our Son
Jo Ashline, MS is a passionate advocate for children and adults with disabilities, as well as their parents, caregivers, and siblings. She is an award-winning writer living in California. SheJo received her B.S. in Child and Adolescent Development from and her M.S. in Child Development.
Andrew was two years old when he was diagnosed with a severe form of autism and global developmental delay. It was March of 2004, exactly a week after his second birthday, and after what felt like an eternity of waiting to see a team of specialists, we had finally received confirmation of what we had already known for months; something was wrong with our son, and now we had a name for it.
The car ride home from that appointment was quiet, as my husband and I each tried to process what had happened and wrap our heads around the frightening statistics and bleak prognosis offered by the professionals who spent the day assessing our beautiful boy.
We were devastated.
Two weeks later, our precious firstborn collapsed in our front yard, his legs buckling underneath him as the first drop attack of many rendered him helpless on the ground as we watched in horror and confusion. After undergoing testing at our local children’s hospital, epilepsy was added to our son’s growing list of diagnoses, and once again a deafening silence filled our car as we made our way home.
We were terrified.
Denial never stood a chance. We knew Andrew was struggling well before his medical charts made it official and to pretend otherwise was a path neither of us were willing to take. Anger would sometimes well up and try to break through the surface, especially after a long day of navigating a society that was anything but welcoming and accommodating towards a special needs family. But it was Grief that took center stage, planting her roots firmly where she stood, larger than life, taking up more space than we had available, until she consumed our every waking moment.
I won’t go into every heartbreak, every missed milestone.
Suffice it to say, there were many of each.
Eventually though, we began to let the light in, or rather, Andrew shined so brightly in so many ways, it became easy to focus on the joy he brought into our lives and the happiness he experienced despite the many challenges he faced each day. We learned Grief and Gratitude can coexist and began celebrating triumphs many would regard as tiny, but we knew were tremendous. We allowed ourselves to feel the inevitable sadness that comes with watching your child struggle, but we also made space for hope and healing and ultimately that’s what fueled us and better equipped us to help our child.
We embedded ourselves in autism and epilepsy support groups, searching for kinship, for community, for clues that could lead us towards meaningful interventions and resources for Andrew and our family. We made new friends, became fierce advocates, and dove headfirst into learning all we could about our son.
Yet, despite our best efforts, something was missing.
Even though autism, epilepsy and global developmental delay accounted for a large portion of Andrew’s struggles, those diagnoses alone didn’t encompass all he was going through. No matter how hard we tried to make his challenges fit into those three labels, Andrew’s developmental history and trajectory seemed more complicated than anything our research had yielded up to that point, and we knew there was more to uncover.
Most medical professionals working with our son, however, were content with the status quo, assuring us no matter what we may eventually unearth about Andrew, it would prove to be insignificant and would not change his overall prescribed treatments and expected outcomes for his life.
Fact: there’s nothing special needs parents love more than proving the experts wrong.
So, we fired anyone who dared stand in our way, and went about the business of obtaining new specialists, including a local neurologist who came highly recommended and treated difficult cases, mostly in adulthood. At 16 years old, Andrew was finally old enough to be his patient, and Dr. M suggested a new round of genetic testing, something we had not done for several years.
It was May of 2018 when we took the testing kit home with us, and though we weren’t expecting much in the way of results, we scheduled our favorite in-home phlebotomist to draw the labs.
Two months later we were back in Dr. M’s office.
Andrew was having a rough morning that day, and I remember my husband took him back to our van to rest and regroup while I stayed back for the results of the genetic testing.
I’ll never forget how nonchalant Dr. M was when he told me.
They found it.
A genetic variant.
SynGap1.
It sounded like a foreign language. I knew autism. Epilepsy. Intellectual disability.
SynGap1?
I had no idea what that meant.
He handed me the paper he was holding. Told me to take it home, look it over, to contact him with any questions. He was sorry the diagnosis would not lead to better seizure control, which was his goal to begin with. I took the printout from him, left his office in a daze, and headed to the elevator. It was there I finally began to read the words I was holding in my hand.
And in that moment, there in black and white, for the very first time in his life, was a nearly perfect description of my son.
The way he walked.
That he couldn’t talk.
The way his hands drooped down at the wrists.
The autism.
The seizures.
The age of onset of symptoms.
All of it right there.
It took my breath away.
I ran to the parking lot where my husband and Andrew were waiting in the van and before I got in, I took another look, just to be sure.
SynGap1.
A name.
A reason.
Finally, a clearer picture.
The ride home wasn’t quiet. My husband and I, we couldn’t stop talking. I cried, maybe he did too. I don’t know, it’s a blur. I know we were wide-eyed with disbelief and I kept reading the same paragraphs out loud and when we googled SynGap1 we half-expected to see Andrew’s face pop up because everything we read sounded just like him, as if someone had taken his developmental history and copied and pasted it onto the screen.
Fourteen years after that first diagnosis
And we finally got the one that makes the most sense.
Andrew has always deserved the whole story.
For our family, SynGap isn’t the end of a long search for the truth.
It’s the beginning of a new chapter for our son, one that’s filled with a renewed hope for the future.
And to our newly acquired SynGap1 community, thank you for welcoming us with open arms.
It feels good to be home.
