This piece was recently featured via A Daughter who is Beautiful, Perfect, and has Down Syndrome on CedarsStory.com, which is a wonderful resource for all things Down syndrome. I thank this fellow mama for letting me share her platform as I talk about how important it is to deliver a Down Syndrome diagnosis the RIGHT way – with love.
I am not one of those girls who dreamed of being a mom.
The thought terrified me, confused me, and frankly, it grossed me out a bit.
I knew that I would have kids someday. I knew that I would want them someday (probably). I figured that I would deal with it when the time came.
Well my time came after a year a marriage with my sweetheart and seeing my closest friends welcome their perfect babies into this world.
That’s when I got the fever.
It hit me all at once. I wanted this. I wanted a baby & I wanted it yesterday.
My baby was going to be perfect and overachieving and beautiful. I couldn’t wait to teach them everything I knew and show them the world!
We tried to get pregnant for three months and finally, on a chilly Sunday morning, I rolled out of bed and took my monthly pregnancy test.
We were elated, of course, and started dreaming of the future. Were we having a sweet boy or a sassy girl?! We HAD to find out. So at 12 weeks pregnant I got bloodwork done for the Harmony Prenatal Test. It was to screen for Trisomy 13, 18, and 21, but whatever that didn’t matter because it would also tell us what was quickly growing inside my belly!
When I got the call I was at work – I stepped away from my desk and into an empty conference room to receive the exciting news. I answered and heard the voice of my doctor (not a nurse?…how personal!) From that moment on is a haze.
I don’t remember her words, but I remember the pity in her tone. I don’t remember how I replied, but I remember feeling like my heart was in my ears. Our screening results had come back abnormal for Trisomy 21. What the hell is that anyway?! I couldn’t breathe.
I wanted to cry.
And I did.
I was an unproductive wreck so I left work for the day & went home to curl up in my husband’s arms.
Oh, by the way, we were having a girl.
We had fallen backwards onto the rollercoaster ride of emotions that accompanies a Down syndrome diagnosis. I began to breathe a little deeper. It was an abnormal screening – not a diagnosis. Maybe it was a false positive – because how else were we to explain this? Yes, false positive. It was the only thing that made sense.
Up, up, up on the rollercoaster.
So we saw a genetic counselor who gave us the unbelievable news that the screening tests were pretty accurate – our baby had a 35-55% chance of having Down syndrome based on the screening alone.
Down, down, down on the rollercoaster.
Then we sulked across the hall for our second ever sonogram. We saw her again, waving her little buds up & down at us and it proved that this was all a mistake and that she was going to be born “perfectly normal.”
Up, up, up on the rollercoaster.
Then the Perinatologist walked in (a high-risk pregnancy physician). She had a hint of a smile on her face and a powerful, yet gentle, demeanor. She took control of the ultrasound machine and began showing us the many markers that our baby girl was showing. There was an increased amount of fluid on the back of our baby girl’s neck (the nuchal fold) and her nasal bone was short & flat. “This is very characteristic of a baby with Down syndrome,” she had said. She was very matter-of-fact. Not in a bad way, not in a good way, just stating a fact. Like, the sky is blue. No big deal. She was calming. I was handed a tissue. Her hands were as warm as her smile.
Two weeks later, at 16 weeks pregnant, I went in for an amniocentesis to confirm the abnormal screening and ultrasound results. We were never even given the option to terminate and it was never part of our plan anyway. Nine days after the procedure, we got the call that our little girl did, indeed, have Down syndrome.
By that time, it had sunk in a little more. Our research had begun & we had prepared what we were going to say to our friends and family should we need to. We had been pointed toward the local Down Syndrome Guild and were giving reading material and the possibility of support groups.
We were lucky, so very very lucky, to have a physician present the diagnosis of Down syndrome in that manner. This isn’t how it usually happens. Most diagnoses are lobbed at parents with little or outdated information. These parents are confused and afraid. They are pushed to terminate the pregnancy because who would want the burden of a child with special needs? Health issues? Developmental delays? Because of these issues, your future will be nothing like you thought or wanted? And your child’s future? Let’s not even go there.
No one would want that life when its put that way!
The problem is that this is NOT the reality. It has been a year & a half since that fateful day that we got confirmation on our baby’s Down syndrome diagnosis. I have never felt more grounded. I have never been happier.
What’s funny is that motherhood is EXACTLY everything I was originally scared for and grossed out by. Every morning I wake up even more confused and I still don’t exactly know what I’m doing, but it has nothing to do with my daughter having Down syndrome.
That baby I desperately wanted to teach and raise? I got her. But instead, I am the one being taught. Instead of teaching her about the world, I am teaching the world about her.
My baby girl has Down syndrome. I wanted a beautiful, perfect, and overachieving child? Well guess what?
I got her.