Reflecting on a diagnosis a year later

Memorial Day weekend of last year we had just received a diagnosis that the baby I was 11 weeks pregnant with would be a little girl who would have Down syndrome.  This past Memorial Day weekend I took this picture.

IMG_5758

This is not a picture that I had imagined last year at this time.  Having no knowledge of Down syndrome except that it is something that you test for prenatally, I only imagined the worst, because if you test for it it must be bad. The tone was set when I got the phone call on a Thursday evening from a genetic counselor regarding a blood test I took only four days prior.  A blood test I didn’t think twice about.  A blood test I was giddy to take because I was sure that the results were going to be fine.  I had a perfect ultrasound just a week before, and even though I was 38, the odds of me having a baby with any chromosomal anomalies was 1 in 100.

The genetic counselor asked if I had a few minutes to discuss the results.  Surprised, I remember heading down to the basement to get some peace and quiet from the usual evening craziness that was ensuing upstairs.

“It’s not what we were hoping for”.

This is how I remember she says it.  And my heart begins to beat out of my chest.  I remember thinking to myself that life is changing in that moment as things went on as usual upstairs, the running around, the loud singing that typically goes on daily with the girls.

I asked her what she meant, she said Down syndrome.  I remember expecting her to next mention options and I wanted to intercept and avoid that whole conversation so I told her we wouldn’t terminate.  Not many more words were exchanged.  She said I should have an amnio or CVS to confirm.  I felt bad because at that point Brendan came into the basement to see what was going on and I can only imagine what it was like from his end to receive that news; hearing my end of the conversation….

“Down syndrome”,
“Did you find out if it’s a girl or a boy?”,
“Girl, that’s what we were hoping for”,
“What’s the likelihood of this being a false positive?”

She gave me her cell phone number for the holiday weekend and told me to call any time I had questions, which meant to me that this was serious.

Initially Brendan and I felt it can’t be that bad, we can do this, but at that point we were just at the initial climb of the roller coaster of emotions that we would be on for weeks.  By the end of that first evening, between the phone call from the geneticist and our parents concern over the diagnosis, the tone was anything but positive. I felt like I was living a nightmare.

I cried for two days.  I told my kids that the baby would not look like us and she wouldn’t be smart.  I spent countless hours searching on the internet for stories of false positives of cell free DNA tests.  We spent a morning running statistics on positive predictive value and the likelihood that the results were a false positive.  I allowed myself to consider termination so that I at least could tell myself that there is a way out.  I decided to get the amnio because I wanted to know for sure and I didn’t care about the 1% chance or whatever it was that the amnio could cause miscarriage.

A friend that I told said “So what.  She’s going to be awesome and you guys are great parents.”  This is what I needed to hear.  Then I started educating myself on Down syndrome.  It didn’t seem that bad.  In fact, I had a hard time finding anything really bad about it.  I started wondering if I was in some sort of twilight zone where all I could find on the internet was pro-Down syndrome propaganda.  I even googled “Down syndrome ruined my life” but didn’t get anywhere.  I contacted a mom in the neighborhood I hardly knew who had a child with Down syndrome.  She sat with me for over two hours and told me about her family and what life was like.  That was the turning point for me.

I found support online.  I went to the Down syndrome board on babycenter.com which was comprised of a whole group of experienced moms and dads that were there ready to help me, answer my questions, tell me that everything is going to be okay, and most importantly, congratulate me.  The tone was changing.

I told some people when the mood struck me.  I stuck with the people who were positive and stayed away from the few that were negative.  I told myself that those who said “I’m sorry” really only meant well and I shouldn’t let it get to me. I preferred when people said “So what? You’re having a baby!” I wish that when the genetic counselor called that day that she said, “Congratulations, you’re having a girl. She happens to have Down syndrome.”

I learned the meaning of ‘one day at a time’ and found a way to enjoy my pregnancy because each day was a day where I was having a healthy pregnancy and there was nothing I could do about the unknown of the future.  In the end, the pregnancy showed no markers for Down syndrome other than that optional blood test.

Gigi is 6 months old now and doing great. We have enjoyed every minute with her. Other than weekly physical therapy appointments and a few extra doctor checkups she’s been no different than her sisters when they were infants.

I still check in on babycenter every now and then, and when I do there is always somebody new writing the same message that I posted last year at this time.  She is newly pregnant and recently found out that the baby she is expecting has Down syndrome.  She is scared and overwhelmed. I usually pop in and say “I know how you feel, I know how scary the unknown is, but my baby is doing great and chances are yours will too.”  And I’ve learned from the other parents on this board to always say “congratulations on your pregnancy”, because after all, it’s a baby, not a death sentence, and it’s important to set the right tone.

Advertisements

5 thoughts on “Reflecting on a diagnosis a year later

  1. It is hard to believe where all our thoughts were a year ago. You are amazing and you have a wonderful family. Gigi has a bright future ahead of her. We are so glad for her.

    Like

  2. What a wonderful life Gigi and her sisters have and will have with parents like you. They are very lucky. Like you mentioned “So what”.

    Like

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s