The Official Diagnosis

It might seem silly but after Baker was born, no one specifically told us he had Down syndrome. At least, not right away. We had been waiting months to finally meet him and find out for sure and I figured we'd just know one way or another the moment he was born. Like we'd be able to tell just by looking at him.

Maybe it's because we already knew the chances and all of the nurses and doctors were aware of our situation. Maybe it was obvious to them when he was born so they didn't think to tell us directly, "Your son has Down syndrome." but I was sitting in the recovery room after my c-section and suddenly remembering to ask about it. I had seen him for just a couple of minutes before he was taken to the NICU and Down syndrome wasn't even on my mind at the time.



Isn't that funny?

I had spent months worrying and wondering and thinking about all of the "what ifs" but during those moments leading up to and after his birth, the only thing I cared about was hearing his cry. It's the one thing I remember focusing on as Justin held my hand and the doctors told us he was close to coming out - I needed to hear him so I knew he was okay. Once he let out those strong cries, nothing else mattered.

Later on while I was in recovery and Justin was in the NICU with the baby, we were texting back and forth and I had asked him, "wait, so he DOES have Down syndrome, right?!" Justin said he thought so but no one had said anything one way or another. We went on with our conversation discussing Baker's Apgar scores and amazing hair.


We spent the next few days getting to know our little guy assuming he had Down syndrome, just like we'd been planning. I don't know why I didn't straight up ask the doctors while we were there (maybe because, again, it didn't matter either way...) but we got home from the hospital and I found myself wanting (needing?) to see it on paper. I wanted to see the official diagnosis and more importantly talk to a genetic counselor to decipher what it all meant. We knew the hospital had taken his blood to run a full karyotype (basically a picture of a person's chromosomes) but I hadn't seen a copy and didn't really know which doctor to contact to get it.

Baker had his first appointment with the Down Syndrome Clinic here in town at the beginning of the month where were met with the sweetest genetic counselor who showed us his report. His chromosomal analysis showed a male karyotype with three copies of the 21st chromosome. Diagnosis: Trisomy 21.

Baker has Down syndrome.


Now, this wasn't anything of a shock to us at this point, obviously, but I asked to take a copy of the report home with us. Who knows, maybe it was the final step in the acceptance process for me but I wanted to have it. More importantly, though, we also learned that the type of Down syndrome he has (there are 3 ways to "get" it..) was a complete fluke, meaning it was present in his genetic makeup from the point of conception. There was nothing we could have done to prevent it, Justin nor I are "carriers" and the chances of us having another child with Down syndrome is around 1%. It doesn't run in families and the chances of Gracyn or Leighton of having a child with Down syndrome just because their brother happens to have it is no greater than the general population.

When I look at Baker, I don't see Down syndrome. To a regular person on the street, I don't know that they'd see Down syndrome, either. The random mom at the park probably didn't know he had Down syndrome just by looking at him until I awkwardly blurted it out while feeding him a bottle as the girls played.


That really happened, by the way. It was like word vomit - the gal asked me how old he was and commented that he was a tiny guy and out of nowhere, I just started rambling about Down syndrome and heart defects. She probably wasn't expecting THAT train wreck when she sat down on the bench next to me that morning.. ha!

Moving on, though.... ;)

The physical characteristics that typically come along with Down syndrome will probably get more pronounced as he gets older but for now, I just see my baby. He just happens to have an extra chromosome which makes him extra special. My little homie with an extra chromie.


An old friend of mine responded to one of my Instagram stories one night while we were in the hospital. I was holding Baker skin-to-skin under the blue lights to fend off the jaundice when she replied, stating how happy she was for me and our family and congratulating us on his birth. I told her I'd have 100 more babies just like him because I was borderline obsessed and he was only a few days old. I said he was worth all the stress and all the worrying I had done, that all of it just melted away the moment he was born.

She agreed, mentioning that she could feel that in my posts, like, "he's just exactly yours and that's all."

YES. THIS. I started crying right when I read those words because she was so right. He was mine, just the way he was meant to be mine. Nothing will change this, the boy is mine (as Brandy + Monica might say...LOL!) and that's all there is to it.

And I've got to say, I'm pretty crazy about him - even if he gets fed up with my incessant picture taking... ;)
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4 comments

  1. Such a little stud! Congrats on the new addition!

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  2. He may be yours, but you have to share! We fell head-over-heals in love with Baker 'nugget' and all the pg worries and concerns for all of you, melted away the moment I met him. Life is good. Love you so! Welcome to the family, Baker!

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  3. Every single one of your posts lately just makes me cry!! Stop it, why don't you?! And you're right, he does have amazing hair!!!!

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  4. LOVE LOVE LOVE. I fully agree with your friend. It's funny because that's exactly how I view Mason also. In fact, regularly I don't even ever mention that he has autism because I don't really think about it. He's my son and that's all I see. Sure we have some extra challenges, but I don't let that define him. Same with Baker! He is perfect just the way he is and he is and always will be your sweet baby boy.
    One question for you though... they were able to tell you how he got Down syndrome? I wonder if they have a blood test for autism too. Not that it matters, but I've kind of always wondered if he was always like that or if I did something or if something happened or whatever to give it to him. Would just be interesting to know, like you mentioned.

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