Esme has always stood out from our other 5 children. The first sign that she might stand out in ways that extended beyond personality or normal physical differences was when she started having trouble eating at about 6 months old. At the time we thought it was just stress from a recent cross-country trip we’d taken. A year later, at 18-months old, she wasn’t connecting with other people the same way her 4 older siblings had. But being six months into a new global pandemic we thought her lack of communication was due to seeing the rest of the world in masks. How could she learn to communicate when she couldn’t see other people’s faces?
Then we started to notice more flags over the next year. She was very late crawling, standing, and walking. And when she did those things it was so different than any other kid. Her crawl was a clunky, rigid army crawl that took her from right hand, then elbow, then side, then left hand, left elbow, and so on. It looked like a soldier pushing her tired muscles to cooperate after a long battle. Any attempt to stand or squat told us she was struggling to keep her balance. Again, it looked like her muscles didn’t quite want to cooperate with what she was telling them to do.
Then there was the trouble sleeping. Bedtime is between 7 and 7:30 but she wouldn’t fall asleep until after 10 or 11. What was she doing during those three hours? Well, we used to call it Esme party time. She would laugh. And I’m talking the kind of laughter you’d expect watching your favorite three comedians reenact your five favorite comedies blindfolded.
But then there was also the screaming. She would wake up in the middle of the night screaming. And she’d scream during the day. And the screams were just as intense as her laughing spells. We couldn’t figure out any cause. One minute she’s sitting, walking, whatever and then, bam, she’s screaming. It looked like she was in pain too, or at least uncomfortable. She’d grab her ears and bang her head. The head banging made really brought things, well, to a head. She would slam her head so hard and without any pulling back and against absolutely any surface as long as it was hard. She tried a pillow once and wasn’t satisfied. She’d hit the walls, the hardwood floors, tables, chairs, the bars on her metal crib (we got rid of that). She would bloody her face so bad that only a full-body bath was enough to clean her up. I was convinced she had a tumor or something crawling around in her head that was torturing her and it was all she could do to get it out by slamming her head on the hardest thing she could find. Then, just before she turned 3 we found out there was something swimming around causing all this.
A month before her 3rd birthday, after 6 months and several rounds of genetic testing we got a diagnosis. The genetic test report read,
Result summary: POSITIVE.
Causative variants in disease genes associated with reported phenotype:
Disease: SYNGAP1-Related Disorder
Inherited from: De Novo
The report continue with an explanation and summary of what we might expect based on studies of other Syngapians (the unofficial and endearing term we use for our warriors): “The SYNGAP1 gene encodes a brain-specific synaptic Ras GTP-ase activating protein that plays a role in synaptic development, possibly through…” All I got from this was, there was something in her brain, just not a tumor. Then came the daunting list of symptoms: moderate to sever intellectual disability, language impairment, epilepsy (we hadn’t noticed any seizures at this point but more on that in a sec), autism (she’d already received a diagnosis of severe autism), behavioral abnormalities, developmental regression, hypotonia, ataxia with broad-based gate, photosensitivity, and myopathic facial hypotonia. That’s a long, heavy list to carry. A couple months after her genetic diagnosis, Esme was formally diagnosed with epilepsy. She’s already on her second anti-seizure medication (the first one was horrible) but fighting this form of genetic epilepsy is a war with many battles. Her neurologist, who specializes in genetic epilepsies and happens to have another Syngap patient, told us the goal is to manage, not eliminate her seizures. She for now she gets her medicine twice a day and soon we’ll have another overnight EEG to see the effects. Esme will almost certainly have to change or add other medicines as her seizures progress. I’m sure at this point I don’t have to say this has been difficult for Esme and our family but I’m going to—this is so hard. It hurts. Every day, every night, Syngap pulls on everything we do. But, a few silver linings.
First, within 12 hours of getting her diagnosis we were flooded (in a very good way) with friend requests from other Syngap families. That’s incredible considering Esme was something like the 980th person in the entire world to be diagnosed with a Syngap1-related disorder. The incredible, and incredibly supportive and progress-driving community is thanks to the Syngap Research Fund, it’s founders, and the tireless work of the volunteers that keep it growing strong. From the deepest caverns of our beings, our family thanks all of you.
Second, I can certify that the hundreds of “your in our prayers” and “we’re praying for you guys” we’ve received have and are buoying us up. This journey, which we’ve only just begun, has strengthened our relationships in our family and has strengthened my faith that God knows me and my family. I feel that every day too (ok, most days, but I feel it).
A third silver lining: Esme. If at the end of our lives we are measured by the way that we were able to affect those around us to make them better then Esme is sure to make the Dean’s list. I can’t possibly use words, pictures, or any other medium to adequately convey to you what it’s like to know her but here’s my best effort.
Esme LOVES to laugh and smile. She’s very social, which is good given the fact that she has more people in her family than even Disney will allow profiles for on its streaming service. Esme is an adventurer. While she like some routine she quickly gets bored staying at home and staying inside. She loves anything that she can throw, splash, smear, rattle, bounce, bang, roll, spin, pull, drink, or topple. She digs in dirt and snow. She loves swimming in the tub, pool, river, ocean, or fountain. Esme loves music, even if it’s me singing all 19 words I know to “Oh what a beautiful morning…” Esme loves patterns in all kinds of mediums: auditory patterns in xylophones and the Fancy Nancy theme song; visual patterns in wooden blinds, lights, cars, spinning things, and dirt or mulch falling through the air; and sensory patterns in rumbling clothes dryers and washing machines. When she’s tall enough I’m convinced Esme will love roller coasters. She loves riding (very quickly and roughly) in her Cozy Coupe car down our bumpy steep hill.
At the top of my list of Esme’s likes are her kisses. While she doesn’t have any words yet (she’s learning to communicate through an AAC device right now), she does recognize quite a few words when we say them. Among those: bath, bottle, outside, car, socks, more, and, my favorite, kisses. True to her affectionate personality, Esme will, without fail, lay one on me when I say “Esme, kisses?” That’s something she picked up on her own. Which makes me wonder what other things will she pick up in the coming years.
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