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A Day in the Life of Emily 6 - The Diagnosis, not Down Syndrome

Updated on June 3, 2016

The Blood Test Results Are In

The nurses in the special care nursery have asked us to stay after our visit with Emily this morning. The results are in and Emily's doctor wants us to stick around so he can talk to us about the final results from the blood tests. This is a most anxious time yet there is a sense of relief knowing we are coming to a conclusion. Finally, it's not long now, but the next few hours will give us the results. After all the months of uncertainty during the pregnancy we will now know what we are facing.

She's No Turnip - For Emily

Not Down Syndrome

Emily's paeditrician walks towards us in that same easy manner we have become accustomed to over the past few days. Funny how I notice in those moments how familiar he has become in such a short amount of time. After all, five days ago I didn't know he existed and now I hold on to every word that comes from his mouth and follow his directions as if I'd known and trusted him for years.

He ushers us into a room away from Emily's crib and out of earshot of the rest of the nursery.

"Please, take a seat." Both of us sit down and wait for what seems like hours but is only a few seconds before he continues. "The blood test results have come back and while they show no conclusion of Downs' Syndrome, they do show something much worse. I am so sorry to tell you your baby has Edwards' Syndrome." The doctor pauses for a moment to see how we are taking in this news. "Edwards Syndrome-also known as Trisomy 18 is a chromosomal abnormality."


How do I put into words the emotion that was running through every nerve of my body? I don't fully comprehend what he is saying yet I fully comprehend what he is saying. Is that possible? It kicks in as he continues to talk about information he has gleaned from the Internet, he reiterates he has had little experience with a child with Edwards' Syndrome and only hopes that he, and his medical team can continue to provide support, not only to Emily but to us, her parents.

Emily's father and I exchange one of those, wow, what comes next glances as the doctor continues.

"Trisomy 18, I've only ever seen it once before, the prognosis is not good. Not many of these babies survive for more than a few days. It has been a miracle for Emily to be born at all." He pauses again and looks at each of us in turn. I am struggling with what he is trying to tell us and one glimpse at Willy tells me I am not alone.

"We will do all we can to keep your baby comfortable but it is unlikely you will be able to take her home. She will need constant medical care."

Edwards Syndrome

No parent wants to hear this news, ever. He is telling me in his gentle yet, still doctor voice that my baby has no chance of surviving. What is he saying? Not Downs' Syndrome but Edwards' Syndrome, what does this mean? Oh my, this is so much worse than we were prepared for, my heart thumps into my stomach in an instant. I can't breathe, yet I continue to breathe. None of what he is saying makes sense but he has those papers in his hand as if it proves he knows what he is talking about.

Maybe, one of us takes those papers from him but I can't remember as each moment blends with another and it all becomes a blue. He wants to warn us to be careful of what we find on the Internet..."There is much good information but not all of it has been proven. If there is anything you are not sure of, please - I would be happy for you to talk to me about it."

As the reality of what he is saying starts to sink in I turn to Willy, hoping to find some comfort but mostly to find that this is a dream. I want to look at his smiling face and feel his hand on my shoulder to tell me that it's okay it was just a bad dream and everything is alright.


© 2012 Karen Wilton

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