It was January 10, 2017.

We took the older kids to school and my husband and I got in the car with Evelyn for our 110 mile trip to Oklahoma City. I was trying to stay calm, but not really succeeding. It had been three months since our blood draw for whole exome sequencing, a test I’d pushed for even though the geneticist was doubtful it would tell us anything.

When the genetic counselor talked with me months before, she said we wouldn’t need to come back to the city unless the test found something. She and the doctor had been fairly nonchalant about the whole thing — they didn’t seem to think they’d be seeing us again. She had also said, in an off-hand sort of way, that if she got the results before Christmas and they were serious that she’d wait till after the holidays to let me know “so we could enjoy our Christmas.” So when I got the call in early January, the fact that it was post-holidays and that she wanted to see us in person made my heart race.

We were called back to an exam room (weird, I thought, since we weren’t there for an exam) and both the geneticist and genetic counselor soon joined us. The atmosphere in the room was thick and tense from the start. The counselor was mostly silent. The geneticist made awkward small talk about the holidays.

As Evelyn played with doctor’s office toys in the corner, the doctor explained that the test had found the cause of her symptoms. He began to explain a bit about autosomal recessive inheritance and my mind shut off. I knew this stuff. I had researched it myself months ago, since the idea of a possible genetic cause had been raised. In fact, I came with a mental list of all the genetic diseases and disorders I thought it could be based on my own exhaustive searches on OMIM and other online resources.

So I sat there, while the geneticist said who-knows-what, and tried to get a glimpse at the papers in his hand, mentally begging him to get to the point and let me know the only thing I cared about: How serious is it?

I don’t know what else he said. He mentioned mitochondria and nuclear genes and depletion and the liver and the brain and seizures and I remember the phase “progressive disease.”

I asked him to stop and I fumbled out, “Progressing. Progressing to… what? What is the… end result?”

He would not look at my eyes.

“Most children with this disease either experience intractable seizures that lead to encephalomyopathy…”

“To what?”

“Brain damage. Or… liver failure. Or it could be any other system failure.”

I remember the feeling of the silence in my heart pushing into my ears and drowning out anything else he may have said. Evelyn kept playing. She turned to me, every few minutes, to catch my attention to be sure I was watching. I just stared at her perfect curls, her little hands with their curved pinkies, her tiny heart-shaped mouth.

I don’t remember the drive home. I just remember that night, sitting on my bed with my three children curled around me to read bedtime stories like we always do. The feeling of Evie in my lap, against my chest, in my arms. Her silky hair against my face. The panic kept building. I held her so tightly, as if I could hold her forever.