How We Frame the Message of a Prenatal Down Syndrome Diagnosis Matters

In the beginning, there were only pieces of understanding, we had yet to put together the puzzle to see the bigger picture. It began with an unexpected call from our midwife. An affront. A soft marker announcing the possibility of Down syndrome — Down syndrome? Uncertainty, shock, doubt, fleeting moments of glee, because what a caring and compassionate big sister our first-born would become. Sadness and fear — fear? Of what? Or of whom? I later ask myself. Of the unknown. Fragments of worry stab at my chest every day we do not know. Waiting. Until we know for sure we don’t know. A blood test, a repeat ultrasound. We still don’t know. More waiting. A scheduled appointment at the Genetics Clinic in the hospital to discuss the results. In person. This is a life we are talking about. The baby’s and ours.

A genetic counsellor leads us into a sterile room. It’s been two weeks, and we still don’t know. She fumbles, “the ultrasound images look good to me, from what I can see,” she leans in conspiratorially, “nothing here suggests Down syndrome.” She doesn’t know. Anything.

The doctor, a high risk obstetrician, blows in like the wind, calm and composed, sharp. Her words will cut into me. She introduces herself and tells us about how her children are a similar spread in age to ours. She congratulates us on the pregnancy. She’s personable and I like her right away. She doesn’t keep us waiting, gets to the point.

“Your blood test results indicated a one in 40 chance that your baby will be born with Down syndrome,” she pauses, “The findings from your ultrasound increased that number by 50-fold.”

I thought, 50 seems high… but it was my husband who did the math correctly, dropping his face into his hands.

“There’s an over 90 percent chance that your baby will be born with Down syndrome.”

“But, what does that mean?” I cut in.

She can’t really tell us conclusively, she says, without an amniocentesis (all that has changed now).

I’m staring into her eyes, pleading. “Please,” mother-to-mother, “tell me.” I want to know the truth.

She registers my pain, vulnerability — helplessness. Her face softens.

“I see over 200 ultrasounds a week and I know Down syndrome when I see it. If I could say 100 percent certain I would, but they won’t let me.”

The truth, finally. She gave it to me.

“Now, I have to bring this up.” She seems apologetic and at first it doesn’t register why — then it does. “You only have a few weeks left if you wanted to terminate…” She looks to me, and I look to my husband. I know how we both feel, but a small kernel of doubt lodges itself in my heart. What if he changes his mind? My husband knocks it free, sends it flying.

“No,” he says firmly, resolute, “we wouldn’t consider that.” This was our baby we were talking about.

“OK,” says our doctor — ever kind, empathetic, perhaps relieved? — without a hint of judgement in her voice. The decision was ours and ours alone to make. A decision that should never have to be made because it shouldn’t be offered.

“Would you like to speak to a social worker? Someone who specializes in grief counseling and helping families in your situation?”

“Yes,” my voice returns, “please have her come.”

The two women leave the room. We are alone together.

Soft tears. A strong embrace.

“Now we know,” I say.

“Now we know,” he echoes back.

The social worker, Valerie, who we met that day saves my life. She sets us on a path to healing. She also plants the seed for advocacy that blooms into the brightest flower, and will produce the most beautiful garden.

My husband and I are hurting. There is no doubt we were hurting. Valerie’s words are the balm to my open wounds. Words I can hang on to over time, and use to sow seeds of my own. Words I can smooth over in my pocket like a polished lucky stone; words to mend my heart. She gives us permission to grieve the loss of the typical baby we were expecting. That was how I felt, like Down syndrome meant the loss of our baby’s life I had imagined in my head. Valerie also silently advocates for the value of our daughter’s life. “You don’t need to do anything differently,” she says when I ask her, “you will love her the same as you would any child.”

“How do we tell people?” I am reeling, mortified, even feeling somewhat ashamed. I take it back, I don’t want to know. But, I do.

“How you choose to frame the message that your baby will be born with Down syndrome will help shape how those around you will react,” she answers.

Let us start there, with framing the right message. This I could control.

“She has Down syndrome and she’s healthy. That’s all you have to tell them.”

“She’s healthy,” I repeat the words, “and she has Down syndrome.” Valerie beams down at me, happy to see I understand.

This was our baby we were talking about, of course I was going to be positive, even if I didn’t feel that way at the time.

Six and a half years later, while I have much to learn, what I do know is this: how we choose to frame the message of a prenatal diagnosis matters. That we were given accurate and timely information from our doctor; that we were offered support and counseling; that we weren’t judged or guided to make decisions; that the health care team by and large valued every human life equally — these things matter, they matter a lot. The words and the intentions behind the words matter immensely.

She has Down syndrome; she’s healthy. And, the words never spoken aloud but left hanging in the air that matter the most: she deserves to live.