We Were Searching for Syngap; We Just Didn’t Know It

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Jo Ashline is an award-winning writer living in Orange County with her husband Michael, and their two sons, Ian and Syngapian Andrew. This story was first published in Love What Matters. 

I am not the same person I was when we left the house today.

Andrew’s Initial Diagnosis

We are somewhere on the freeway heading north towards home, but even though I’ve been on this road countless times, if you asked me where we are right now I couldn’t tell you. Everything looks different and the landmarks that usually signal we are nearing our destination seem blurry, unidentifiable, strangely unfamiliar. Our station wagon Volvo suddenly feels small and I feel the panic well up and rise from the pit of my stomach and I think I might scream but I roll down the window instead and try to take a deep breath. Even the air outside feels thick and stifling. I know I need to focus. There are things to do. People to contact. Appointments to make. Interventions to coordinate. Instead I close my eyes, picture the merlot waiting for me back home on the kitchen counter, feel the bottle against my lips as I tilt it back and let that Two Buck Chuck from Trader Joe’s coat my throat and my heart and soothe my fears and let me pretend for just a little while longer that everything is going to be okay. 

We must have passed by a big rig because Andrew’s chubby little hands start flapping and his accompanying squeals break through my daydream. I turn around in my seat to face him, and gently coo his name over and over again, hoping to get his attention, but he does not look at me, does not acknowledge my presence, his big blue eyes focused instead on the passing car while his baby brother Ian sleeps in the car seat next to him.

Andrew has just turned 2. And today he was diagnosed with autism and intellectual disability.

I do not know this yet, but in two more weeks he will collapse in the front yard, his tiny body taken hostage by a seizure. More will follow – in his high chair, at the park, in my arms – and he will be diagnosed with epilepsy and put on medications that will fail to work, and we will begin a journey no parent is ever prepared to undertake. 

Andrew As a Baby

Andrew is a surprise. I am 23 and pregnant and in love and terrified. I eat a lot of pancakes and take walks to the library where I borrow every book they have on pregnancy and babies and I notice there are diaper commercials everywhere and I keep having this dream that I’ve given birth to a cat because I cannot seem to wrap my brain around the fact I am making an actual human. I worry a lot but I’m healthy and strong and according to all of the ultrasounds and doctor visits so is my baby.  I’m at a gas station when I double over in pain one evening and my husband whisks me away to the hospital and though some of the details of labor have blurred a bit over the years, always in sharp focus is the moment they placed him on my chest and I knew I would do anything for this perfect child of mine.

He is weighed and measured and scored and it will be the only assessment in his entire life he passes with flying colors.  

He is not talking. Or crawling. Or walking.

The emerging babbles we hoped would give way to a burst of language have all but disappeared. He loves Sesame Street and I buy him every electronic Elmo toy they make thinking it will promote interaction but he just presses the same button over and over again and Elmo’s voice fills the silent space where Andrew’s voice should be. I take him to his pediatrician who tells me to relax and asks me if Andrew is pointing to planes in the sky and I say of course he is but after we get home I watch him obsessively and never once does he lift his chubby little baby finger no matter how many planes pass above our heads. I begin to sift through every detail of my pregnancy, wondering what I could have eaten or taken or done to cause this. I don’t even know what this is, but I am certain it’s my fault. 

TryingTo Embrace His Diagnoses

His diagnoses read like the a la carte menu at a restaurant. 

Autism

Lennox Gastaut Syndrome

Global Developmental Delay

Non-Verbal

Hypotonia

Sleep Disturbances

Self-injurious Behavior

Intellectual Disability

It’s not possible to join a support group or foundation for everything, so we choose autism and start attending walk-a-thons and jog-a-thons and every autism-related event we hear about and we wear the shirts and we embrace the puzzle piece until we’re told to hate the puzzle piece and then we embrace hating the puzzle piece. We meet amazing parents and their amazing kids with autism, and we know it’s a spectrum and everyone is different but over and over Andrew is an outlier, his many challenges and impairments spilling over and beyond his autism diagnosis. We seek genetic testing by day while the nights are left for self-blame, which grows stronger with each genetic dead end. Andrew falls asleep in the crook of my arm while I whisper I’m sorry until my throat is dry from my Catholic guilt. 

We begin in-home therapy and for 14 years we welcome strangers into our house until they are no longer strangers, until they become friends and then family, until we no longer feel compelled to be on our best behavior and I stop wearing a bra every time I answer the door and we lay bare our entire lives, which have become an endless stream of acronyms:

IEP

ABA

FAPE

EEG

AED

It takes a few years but we find our footing and, no longer confused and timid, I spend my days demanding better for my child, from his schools, his doctors, the community, the government, the acronyms now rolling off my tongue with ease as I quote laws and research and challenge poorly administered methodologies. When he is 10 and the district fails him but protects those responsible for his suffering I am a wrecking ball, their worst nightmare, a mother who knows too much and won’t shut up until her son is safe again.

Andrew cannot speak. But I can. 

Further Genetic Testing

He is 16 and our new epileptologist wants to run more genetic tests. It’s been years since we were last disappointed but we agree because science is constantly evolving and we must evolve with it but I don’t let myself hope. We take the small box with Invitae splashed on the front and schedule our phlebotomist to come draw Andrew’s labs in the comfort of our home because if there’s one thing we’ve learned over the years is you can’t underestimate the importance of a good phlebotomist. FedEx comes the next day and that little box gets shipped overnight and while it’s on a plane over the San Francisco Bay I forget all about it and go back to making sure our protective gear is in its place and ready for the next time Andrew tries to slam his head into the wall because he cannot tell us why he is unraveling. 

The phone rings one day, maybe two weeks later, while I’m in the middle of reciting Thomas the Train Percy’s Promise for the 1,367,453rd time. It’s the epileptologist’s office and can we come in and go over the genetic results because there are results to go over. We make the 20 minute drive to Newport Beach promising Andrew the entire way there that we will see the water just as soon as we are finished. Doctor appointments are his kryptonite, ocean waves his cure. 

Dr. Millett comes in holding some papers and I plaster what I hope is a convincing smile across my face even though my insides feel like they want to be my outsides. He says there is a diagnosis, a rare genetic disease called SYNGAP1, only a few hundred known cases worldwide, that it happened during conception, and I softly repeat this new word which has been here all along, since before I even knew I was pregnant, biding its time until someone discovered it. 

He hands me the papers and as I read the description of SYNGAP1, there for the very first time is Andrew’s entire diagnostic story, the decoder we have been searching for for most of his life. Every milestone missed, every seizure suffered, every hospitalization, every moment his body betrayed him, every detail down to his clumsy gait summarized in 12pt Times New Roman. I want to keep reading but the words have blurred from the tears I’ve started shedding and I look up at Dr. Millett and I whisper thank you but what I really want to do is throw my arms around his neck and yell THANK YOU over and over again until I am escorted off the premises.

Finally Receiving the Right Diagnosis

I am not the same person I was when we left the house this morning. 

We are somewhere on the freeway heading north towards home but even though I’ve been on this road countless times, if you asked me where we are right now I couldn’t tell you. Everything seems to be in focus, as if I’m seeing it all for the very first time. There are things to do. People to contact. Appointments to make. Interventions to reevaluate. Instead I close my eyes and picture every moment of Andrew’s life when we were left wondering why and let this new knowing wash over me through me and into every memory thirsty for the truth.

Andrew is 16. And today he was diagnosed with SYNGAP1, a rare genetic disease.

I do not know this yet, but in the coming days and weeks and months and years I will meet others like us, and our family will become part of a growing community and we will wear Syngap t-shirts and we will organize jog-a-thons and I will over and over again say that sounds just like Andrew

Because this is where we belong.

We are finally home.

Learn more about Andrew in his Wednesday Warrior story too!