Down syndrome: A diagnosis story

20 comments

Just a few weeks ago, my girl turned four.  And every year her birthday comes around, my brain goes back to the day she broke free from the mothership, the day she was born.  We’d been so excited to meet her and finally reveal her name to our friends and family.  Little did we know, she had a little secret of her own: a 47th chromosome, a tiny little extra #21.

The story of how I found out about her secret leaves much to be desired.  It starts with my husband and I spending time holding her in my hospital room, marveling over this miracle that had taken place just an hour earlier – on my 30th birthday, no less!

I remember trying to take the perfect picture to send to friends and family.  I took her “first picture” three times because I thought she looked kind of Asian in the first two.  (Which would be totally cool except there’s not a drop of Asian in either of us.)  I wrote that thought off as “well, that must be what brand new babies look like” cause hey, I’d never seen an hour-old human live and up close before.

Anyway.

Suddenly, I was alone – my husband had gone out with my brother to grab non-hospital food lunch.  A doctor and a nurse came in out of nowhere, turned off the TV I was watching, dropped the remote back on my bed and sat down with somber faces.  What happened next is a little blurry, save for a few quotes.

“I’m not sure but I think she has Down syndrome.”

“You’ll probably want to quit your job to raise her.”  (Side note: I actually laughed when he said that)

“…God I hope I’m wrong.”

I did not cry.  Shock, maybe?

On some level, I’d always known.

I asked if I could go see her.  She had been in the nursery for this conversation… I was completely alone for the news.  I just wanted to look at her, hold her, have her unknowingly reassure me that the doctor was, in fact, wrong and that she would be just fine.

They wheeled me in to the nursery.  One clearer look at my girl and I knew it was true.  I forced that truth out of my head until the doctor called four days later with the scientific evidence.

I don’t know how long I was sitting there… maybe a few minutes?  I looked up. My husband, parents and aunt were all suddenly present and waving from the nursery window.  All of them blissfully unaware of the bomb that had just been dropped on me.

I wonder what I looked like at that moment.  Because what I was thinking was can I just keep this all a big secret?

Nobody needs to know.  She’s a baby.  I can totally keep this under wraps from everyone until I figure out a way to fix it.

Because what will they think?  My family is full of smart, successful contributors to society.  Would they accept my girl if she wasn’t?  Would she ever hold a job like mine?  I remember specifically fearing what my brothers would think.  There was regular joking as we grew up who the smartest was, what we did for a living, etc.  How would they react to a less-than-perfect niece?

Some pretty heavy thinking and planning for a span of about 10 seconds.

They let my husband and my dad in to see us.  My dad was first and came right over. I think he gave me a hug and at that second, I decided this wasn’t the secret I could keep.  I blurted it out.

“They think she has Down syndrome.”  Before he’d even had a chance to give her a good look, I slapped that label right on her.  Tainted his view of his only grandchild right from the very start.  “Noooo….” …tears.  I told him it would be OK.  (My first motherly instinct?  What did I know?)  Then I did the same to my mom.

There isn’t much in life I regret but I do wish I had given them the opportunity I had – to just see Abby as Abby right from the very start.  No disability, no label, no nothing.  Just enjoy this amazing life moment.  But parenting is hard – as I’d learned in my hour-long parenting experience so far – and I needed them to be my parents at that moment.

Meanwhile, my husband had been stopped near the door by the doctor.  The nurse whispered to me, “let the doctor tell him.”  I didn’t think this was a good idea but shock and fresh birth-giving hormones and the word “okay” just fell out of my mouth.  He was barely in the door and nearly fainted.  I couldn’t hear the conversation but I had a feeling it wasn’t much better than the one we’d had a few minutes earlier.

A karotype confirmed it four days later. The next several months were a blur of desperate internet searches, tears, therapies, specialist appointments, tears and tears.

One of the hardest but simplest things that I had to keep reminding myself of was that Abby had no idea.  She was just a baby being a baby.  She had no idea she was any different (still doesn’t.)  We were the ones with the preconceived notions; with something to get through.

With time, we did.

20 comments on “Down syndrome: A diagnosis story”

  1. So beautiful! We have a 3year old boy rockin the extra chromosome too! We found out prenatally, but had a very similar story of discovery. It’s so true that it’s something that the adults need to work through because neither my son, his siblings, or friends see anything other than love and charisma. It’s amazing to see the amount of love he draws toward him-an amazing lesson of how if you give love you will get it in return. I wish more people could see these beautiful souls and that they aren’t a burden but a blessing. Hopefully this can start with teaching the medical providers how to deliver a diagnosis better!

  2. The part about your dad choked me up, along with many other feelings and thoughts I’ve had as a mother. You are a strong person and Abby is beautiful

  3. Thank you so much, ladies! If there’s something specific you want to hear about, I’m happy to oblige. Otherwise, I’ll just write about things as I think of them 🙂

  4. I so wholeheartedly agree with you about labels and how they can change everyone’s perspectives. My husband had two cousins with some sort of mental disability (it was never really talked about as to what they were really diagnosed with) and everyone thought I was crazy for not doing genetic testing but I knew that if G-d gave me a baby with an extra chromosome or without I would love that baby no less and why should that baby get a label before they are even born! Thanks for sharing your story and I look forward to reading more about your rockstar!

  5. Melissa, this is a gorgeous piece of writing and I, too, got chills while reading. I do hope you’ll write more about your little rock-star ~ I want to hear so much more!

  6. This post gave me chills and tears. Well written and touching, straight from the heart. Your little girl is very special and its her personality and drive that will take her very far in life, no diagnosis will hold her back! You are such a strong mother!

  7. This was so beautifully written. Thank you for sharing your story. Both of your kids are very lucky to have such an amazing mommy. ❤

  8. That path to acceptance is tough when the diagnosis comes, and for us it wasn’t a bomb on the day she was born. But that acceptance brings such a profound freedom and abundance, doesn’t it? Loved this.

    1. YES… It used to consume me and now there are days when I don’t think about it at all! It’s pretty amazing

  9. This had me in tears. You are a very gifted writer. Thank you for sharing this story. I am sorry you couldn’t have had more compassionate doctors and nurses around you during this difficult time.

    1. A great thing I’ve been hearing about recently is an initiative to educate the medical community so that these kinds of stories start off more positively. It’s only been four years and things are already starting to change… good things are a-happening!

  10. Thank you so much for sharing this, Melissa! A beautifully written piece for such a difficult moment. I love your statement about the adults being the ones with something to get through, not your beautiful baby. So true.

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