Clinodactyly

n. an abnormal curvature of the fifth finger that is often an indicator of rare, chromosomal disorders 

I studied every square inch of Emmy’s newborn body and somehow a tiny little line on her smallest finger had escaped me. When the doctor turned her hand over and showed me a crooked line on her pinky that I didn’t have, I felt like someone had found the missing piece of a puzzle I didn’t want solved.  

I felt my eyes widen and my breath catch in my chest at the sight of that wayward line. She kept talking but I couldn’t hear it. I noticed them measure each of her digits, the distance between her eyebrows, her shoulders…but I couldn’t stop stroking her silky-smooth palms and tracing the rogue line; willing it, no begging it to straighten.  

A story is just a story until it sits heavy on your lap in an exam room.

We came to learn just a few short days later that Emmy’s official diagnosis was Williams Syndrome. The spontaneous deletion of about 26 genes from the long arm of Chromosome 7. The implications of which were vast and intimidating. One of the known missing genes in WS is a copy Elastin (ELN), the material in our connective tissue that makes things flexible and resilient; able to return to their natural shape. The lack of which is responsible for Emmy’s very smooth skin, the epicanthal folds in the corners of her eyes, her flat nasal bridge and her full lips. It’s also the reason Emmy and anyone with WS suffers from Supravalvular Aortic Stenosis (the narrowing of the artery just above her aortic valve). Sometimes the stenosis narrows to the point of closure, with obviously devastating results.

Beyond the physical implications, there are global developmental delays and mild to moderate intellectual disability and learning problems. Behaviorally, Emmy would grow to be the “friendliest kid on the block”, perpetually social and endearing if not overly trusting of strangers. She will greet you again and again; addicted to the lift of your eyes and curve of your lips when you smile at her. You can catch her staring if you pay attention. She has a mysterious aptitude for music; her rhythm and pitch almost perfect. You could probably blame her hyperacusis for this sensitivity to sound common with Williams.

A myriad of foreign traits that felt so “other”. Not mine. Not my husband’s. It was as if Williams Syndrome swooped in and modified our present and future in one hundred irreversible and unwelcome ways.

And yet, Emmy was ours. Forever, irreversibly, completely, and biologically ours.

The early nights blurred to days and I wasn’t quite sure what to do with myself or the four littles pulling at my fingertips with needs unending. There were dozens of pending appointments, phone calls to be made and paper stacks to be filed. But there was also sidewalk chalk and wiffleball, bug catching and tag. There were new risks that terrified me, but there were still days at the shore, freeze pops to eat and letters to write about how everything and nothing had changed all at once.  

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Dear Emmy,

Summer is here again and the warm sun mornings on the porch and flip flop afternoons are making me remember again to be thankful for the little, little things. Sweet peaches by the bowlful remind me of my Grandpa's house and the orchard next door. The way we ran around his giant yard like we owned it and made homemade black raspberry ice cream on his porch. We poured salt into the ancient churn and watched it spin, Grandma pouring the sweet puree into the cream, and it barely swirled together before we helped ourselves. I always remember the levity of it-my memories perfection, filled with the laughing and the tired legs of a good summer's day spent with cousins. 

And even though life has taken its turns since our days at his house, I still find new reasons for joy... 

Like your dark tan legs, growing taller and faster taking great big steps up the school bus stairs. The way you hold my chin and say with such sincerity, "I love you so much" and then ask me for "ice cream cones with sprinkles please". Your left arm swing that's part of your swagger now and the way you still sleep flat on your belly, your dark curls across your cheeks.  

The sticky salt air at the ocean where your siblings played and the way you let me hold you on the beach chair because your feet didn't like the sand, your head tucked in my neck as we watched the waves go in and out, you warm on my chest. That you're still little for a little while longer...these are the whispers of blessing to me in our chaotic world. 

Emmy, I wish you all the great joys of childhood. I hope for silliness on summer afternoons and the "good tired" sleep that comes after days by the shore. I pray for barefoot belly laughs on summer grass at night and ornery adventures that grow your independence. I want you to live the rose-colored memories too, black raspberry ice cream and all. And someday when you're big, you'll hold those memories close even though life has changed...but hopefully they will teach you to keep the little things near to you, collecting them one by one; a little wildflower bouquet that’s all your own.  

Love you always. Pinky promise. 

Mom