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‘Incompatible With Life’

August 12, 2013

Shirley Phillips has a doctorate in physical therapy and currently works for a federally funded research and development program studying human performance in aviation. She was an airline pilot prior to her daughter’s birth.

AshleyAndShirley

Ashley and Shirley

The pediatrician was working with a medical student when Ashley had another of her 105 degree fevers. The remnants of a birthmark on her forehead glowed crimson beneath the fringe of bangs I used to conceal it. It always seemed like a warning sign designed just for me, her mother.

I sat quietly while the pediatrician asked for permission to share some information about Ashley’s rare genetic condition with the medical student. Given her intellectual disabilities at the age of two, she was probably not going to understand a word he said, but I instinctively reached to cover her ears.

This resulted in the pediatrician saying, “See how her ear canals are curvy? And her ears are set low on her head? Notice her wide nasal bridge, and her barrel-shaped chest. I am certain when Ashley was born they knew right away that genetic testing was needed. Three or more abnormalities, like the club foot, the wide nasal bridge, the . . . ”

“Wait just a minute,” I said, hardly recognizing my own voice as I stammered out my dismay, interrupting the sage and his pupil. “That isn’t at all the way it happened.” This woman who was interrupting the doctor in front of his student—this was not me. But I couldn’t let it go on this way. I couldn’t let one more person potentially go through what I had as a mother.

“Oh,” he said, clearly miffed and disappointed to learn that something that was obvious to him had not been recognized by a colleague. “Go ahead and tell us what happened.”

What happened was I thought that I was going mad. All of my anxieties about being a mother to not just one but two daughters came boiling to the surface. What happened was that I had to keep asking for six months why my daughter’s head was so large, and why she wasn’t meeting any of her “milestones.” I had to tell a nurse that either I was suffering from some kind of mental disorder that was causing me to think that things were not right with my little girl when they were fine, or that no one had the guts to tell me the truth. I was left to wonder if the anxiety I had felt about this pregnancy even before the first kick was just the premonition of a madwoman, or the intense connection that I already felt with the daughter in my womb.

“No,” I said, to doctor and student, who had by now had fixed their attention solely on me. “The signs you are describing of something being wrong were there, but none of Ashley’s doctors said anything. A nurse was the first one to ask me if I thought that Ashley was developing in the same way as her older sister. And it was a nurse who made arrangements for the genetic testing that led to the diagnosis.”

Although I cried constantly for three days after the pictures of her abnormal chromosomes were shown to me, I also felt empowered that maybe now I could do something for Ashley. The actions taken by that nurse were the beginning of a journey where I became the one who knew more about a partial trisomy of chromosome one that any doctor—especially the one who sheepishly admitted that in medical school the lecture on chromosome one abnormalities was blissfully short because it consisted of “incompatible with life—next slide.”

I have news for you. Ashley is not only alive but she is probably enjoying life more than most of us. She takes sheer delight in getting to eat a piece of cheese for a snack, and yesterday she told me that she wanted a red dress that she saw in a catalog because it was “fancy.” Now where did she learn that word, this child who wasn’t supposed to live, let alone have an appreciation for “fancy.” She wants to wear mascara like her big sister, and she gets it when someone is making a joke. She even makes her own now, like blaming her cat Maggie for the gaseous smell emitting from under the blanket.

I share this story not to fault a pediatrician who missed a diagnosis because he was trying to make it not so. He had young children too and was probably fighting to avoid really noticing the signs that said my baby girl was not all right. How easy it is to second-guess him now when we have the answers. I understand why it happened, but I want to say kudos to a nurse who helped us get a diagnosis—and from that, a chance at a better life for both of us.

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