Congratulations- A Down Syndrome Diagnosis (Emmie's Story)

I remember the moments all too well. The moment when I sat there alone hearing that a blood test was recommended to see what was going on…the moment that I sat there crying telling the girl drawing my blood that I didn’t know if I could do this, but that I knew I had to take care of myself before I could take care of anyone else (meaning, my husband)… the moment that I was told Emmie had a 99.1% chance of having Down syndrome. I remember them so vividly that it feels like it was yesterday.

But it was over a year ago. It was almost a year ago that I started the most wonderful journey of my life when Emmie came into the world.

And in the last year I have learned so much. About myself. About my job, my husband, my family (immediate and extended), social media, companies, laws, my child’s diagnosis…the list goes on. But today, I want to take a minute to talk about what I have learned from the last year and a half.

I was pretty early on in my pregnancy (about 12 weeks along) when I got the phone call and Dr. Walker saying:

“Hi Kortney, we got the results back from your blood tests. It shows that you’re having a baby girl, congratulations, and that she’s got a 99.1% change of being born with Down syndrome.”

“…wait… what? Down syndrome?” I asked

“Yes. That’s what the results came back as. Down syndrome.” She responded

“Not Turner syndrome? I thought we were concerned about Turner’s syndrome?” I asked back.

“I’m not seeing results for Turner’s but this test is pretty accurate and it shows a good chance of Down syndrome. Let’s have you come in in a few days and we’ll talk about what this means going forward. Have a great night!”

And then she hung up the phone.

I was so confused. I was prepared for the worst. I was prepared for a baby that was never going to make it to full term or die at childbirth. The scans had shown so many indicators (soft markers) for it. So I now had to re-collect my thoughts and figure out a new plan. I stood there in the bathroom, staring at myself in the vanity thinking “Now she’s got Down syndrome, too? This isn’t what I was expecting. I’m not prepared for this.”

I would be lying if I said I didn’t cry when I found out that Emmie would most likely be born with Down syndrome. In fact, I honestly thought “How did this happen to me?”

After I got the diagnosis and I had actually started to think about what could possibly go wrong (There were so many “could be” situations that came along with this diagnosis. Cancer, heart disease, open heart surgery, diabetes, blindness, deafness, speech issues, feeding issues, sleep issues…the list goes on and on. And some of those fears are still very real. Some have gone away.)

And for a moment I thought it would just be easier if she was never born. I was so afraid of how this would affect my future world that I had dreamt up. I had visions, and some of those visions have changed, but some of them have not.

I think back on those days now and wish I could wrap my arms around my devastated self, crying alone in my walk-in closet, and say “It’s all going to be okay.” I tried and I tried to tell myself that over and over but my uneducated got the better of me and I was easily sucked into a self-pity party and the tears would come back. (I say that because I was informed about Down syndrome as I’m a teacher who has had students with Down syndrome in my Foods Classes, but not properly educated about their lives and abilities)

A few days later we found ourselves sitting in the Dr’s office again, waiting for Dr. Chalmers to come in. I remember being so nervous. Like I was going to the Principal’s office for something.

I remember him coming in so happy. He slid the rolling chair over and plopped down saying “How are ya today? How’s business going?” just as he always did. I think he could read the emotion and the nervousness on my face.

“We’re fine. Business is good” I said trying to be the happy person I used to know…

“So, I hear Dr Walker called you with the exciting news” he told us

I sat there and thought “Exciting?? Are you kidding me?!”

I didn’t even had a chance to respond when he started saying:

“I’m sorry this pregnancy isn’t going the way you planned or thought it would, but Down syndrome is the greatest thing. I have a {family member} with Down syndrome and man, what a blessing! {This person} has a job, goes on vacation, is so funny. We love {this person} – like, probably the favorite family member. No, definitely is the favorite person in the family. Like, we all love going to family reunions because of {this person}”

I remember the mood instantly changed in the room, and so did my attitude. I went from thinking “I can’t possibly do this” to “This is going to be okay. We are going to be okay”

I don’t remember much else about that appointment or what else was said but I remember him saying “Okay, well take a few days, do some good research, call us with any questions and then we can talk about what you decide. This is going to be fun!”

And just like that- my world was put back together. It may have been glued with Gorilla Glue, and it didn’t magically fix the issues that we were looking at, but it changed my life. There is a part of me that truly believes that I never would have carried Emmie to term had I experienced something else. We still knew that Emmie had an uphill battle, but instead of it looking so dark and grim, it was looking a little lighter and happier. All thanks to a Doctor who was willing to cut me off and tell me how it really was; someone who had actual real life experience with this and wanted others to experience it with him.

For me, this is what I needed- time to cope and research, and have the backing of an experienced medical staff to help me along every step of the way, doing anything they could to help me find the happiness and peace that I needed to enjoy my pregnancy.

And now- over a year later, I’m still learning things. At first with Emmie, I thought that my Doctors didn’t know what they were doing. I thought they had some expectations of what her life should be, and would be. I was almost positive that I knew more than them. But as time has shown, they do know her, and they do know what is best for her. They have been so open with me about what is best for her, and how to treat her. We’ve had some great conversations about how Emmie is breaking all the rules on Down syndrome and showing the general population what it’s really like. Now, granted, we’ve have some super good luck with our little Unicorn Princess, but she’s been able to reinforce that a diagnosis doesn’t mean the same thing for every person. She’s hit her milestone. Some of them have been early. She sits, rolls, claps, waves, eats, sleeps, drinks, gives high fives, plays, laughs… just like any other baby. She has her likes and her dislikes. She has her feelings and she’s not afraid to show it. She has her routines and she likes them. She has her successes and her fails. And we all (Doctors included) love every second of it.
Because she’s been so healthy and active, we have to sometimes remind ourselves that she does have Down syndrome. We don’t look and her and see Down syndrome. She was going to change our lives no matter what. She’s our first baby. We have/had nothing to compare her to. We know no different than her, and we wouldn’t change it for the world. She’s the best thing that’s ever happened to us. Okay, maybe I’m a little more paranoid and over protective, too proactive in her life… But that hasn’t been a bad thing. This is something that our doctors have come to appreciate and help me to cope with. They laugh when they think about how the next child will be treated- they are almost positive I’ll be the most overprotective mother ever. But the way that I look at some of these “fears” now- is that we have warning with Emmie. We have a road map so to speak. When something is going wrong, we know where to start. We know what to expect, what is common…

At first, I was afraid to tell many people about the diagnosis we had been given. Because quite frankly, I was afraid they would tell me what to do. And I needed my own time to figure out what was best for me and my growing family. But now, it’s something I constantly share. I want to show the world that Down syndrome isn’t scary- it’s beautiful, and exciting, and happy.

Kortney is a full time teacher at a local high school. She and her husband are also business owners living in Utah, trying to encourage other businesses to make their workplace an inclusive workplace as well. She loves to dance, sew, design, and make others feel good about themselves by selling Rodan and Fields on the side. She is an avid shopper and loves to find a good deal. Follow her on Instagram @kortney.b and on her blog here.