Diagnosis Day: A Retrospective

The morning of January 20, 2005 was gray and not especially cold.

I rarely wore a coat anywhere that winter because schlepping my red-headed baby and preschooler places made me hot, always. I rushed my children out of pajamas and into clothes, hurrying to make our appointment with genetics. I wore a stretchy cowl-neck sweater in mossy green (my favorite color) with grey cords. On my feet, I slipped a pair of suede mules.

I have never forgotten what I was wearing that day.
Jack was seven months old and an enigma. He was lovely on the outside, with pale, rosy skin and a round moon-pie face. The skin of his arms, legs, and torso were covered in splotchy red marks that the pediatric dermatologist diagnosed as a capillary malformation that made the skin somewhat sensitive, but which had no other related problems.
But Jack didn’t make great eye contact and sometimes seemed like he was in his own world, disconnected from the things happening around him. He was growing well and mostly meeting milestones, but always just barely on the edge of the timeline those handouts at the pediatrician’s office purported as “normal.”

Those handouts stressed me out. We weren’t keeping up.
At his two-week-old well visit, as she examined Jack’s joints, muscle tone, and reflexes, our pediatrician referred us to a geneticist. Seven months later, we got in.
And now we were here. I hadn’t found a sitter for three-year-old Henry because I knew how doctor’s appointments with kids were: thirty-ish minutes. A quick exam. In and out. We were simply here to rule things out. That’s what we were doing—ruling out problems. And we would be done in thirty-ish minutes. Because I knew all about going to the doctor.

Except I didn’t.

First we told our life story to a genetic counselor with the lyrical name of Pilar. She was smart and kind and had warm brown eyes. She mapped out our family tree on a sheet of paper, indicating all our relatives and any physical or mental conditions they had. We talked about Jack’s skin and his other differences.

“Soon they will send us home,” I thought. “After they have ruled out anything sinister.”

The genetic counselor smiled, gathered her notes, and said she and the genetic team would meet in the common area now to discuss Jack.

“This constellation of symptoms is present in several syndromes,” Pilar breezily mentioned as she left the room.

Ice coursed through my veins. What was she talking about? A constellation of symptoms? It was a melodic phrase, except that connecting the dots of my baby’s differences wasn’t going to result in a collection of stars in the night sky. It might reveal a glaring disability.

I stood holding my squirmy baby, naked but for a diaper, in my arms and watched as Henry climbed up on a chair over and over to recreationally wash his hands in the little sink. Over and over he climbed up, helping himself to vast amounts of foaming hand soap and splashing water all over the countertop, floor, and himself. Over and over.

When were they coming back? We had been waiting here for ages. I needed to use the bathroom. Hadn’t they ruled everything out yet?

I strapped naked Jack in the stroller, called to Henry and opened the door. A large group of doctors, residents, and genetic counselors sat in a circle nearby. They turned in unison and looked at me when I spoke.

“Is there a bathroom we can use?”

“Yes, just around this corner.”

I took my three-year-old, my baby, and myself to the bathroom, where a cold, hard, pervasive knowledge pierced the center of my chest.

Jack had a syndrome. I knew it.

I knew it at the deepest physical and spiritual level, before we walked slowly back to the exam room and they said the words that changed everything that came after.

Macrocephaly Cutis Marmorata Telangiectasia Congenita Syndrome.

No one has ever heard of it, because almost no one has it.

Intellectual disabilities. Brain dysfunction. Cognitive delay.

Welcome to the new frontier.

There was no going back. The geneticist’s diagnosis landed squarely on us. He said it and it couldn’t be unsaid, because it was true. His words were an atom bomb.

My old life blew away as pulverized ash.


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