Yo soy La Lay

adventures in family, faith, and Down syndrome

The Diagnosis

on April 7, 2014

I follow a group online called the Down Syndrome Diagnosis Network, which exists to support families when they have received a Down syndrome diagnosis.  While I have written extensively about Tessa’s Birth here, it’s worth dissecting the process of the actual diagnosis.  I promise I’ll be totally honest.

When John and I talk about family planning, I’ve always said that I want to “finish early.”  Actually, what I have said is something along the lines of “it’s so risky… waiting until I’m older… that’s why I’d really like to stop having kids before I’m 32.”

Foot. In. Mouth.

I told you I’d be honest.  And where did I get the number 32??

At Tessa’s 20 week ultrasound, our tech told us that the baby was the most wiggly baby she had ever measured.  This was my fourth ultrasound of the pregnancy.  Most of my friends have these sweet ultrasound pictures of their little one lying nicely across their belly, face up, sometimes sucking a thumb or waving hello.  Ours is a face, smushed up against the uterus wall as if to say HEY, DO YOU SEE ME IN HERE??  ‘CAUSE I’M ABOUT TO GIVE YOU THE SURPRISE OF YOUR LIFE!   Perhaps her insane movement is why no markers could be seen?  Or maybe not…


In any case, I’m telling you about the diagnosis, aren’t I?

I feel like my husband is the best person to tell this story.  After all, he is the one who actually received the news, not I.  That is really how it went.  NICU was called to the delivery because of dropping blood pressure.  As she was delivered, John told me it was a girl and my jaw dropped to the floor.  She cried and it was beautiful.  As NICU examined her across the room and I continued the delivery process, they started talking about strong markers for Down syndrome and did we have prenatal testing?  The silence of the room was thick.  It was cramped with people and yet my husband and child were so far away… My nurse wanted to know if I knew and I was telling myself that this woman was surely mistaken because this would have been seen on my ultrasound.  Wouldn’t it?  People don’t just get a diagnosis like this.  Do they?  I’m not prepared.  Someone should have prepared me.  In any case, she was probably wrong.  My doctor (whom I adore) very quietly said to me “you know, who is to say they aren’t just as happy… even happier than we are?”  And I waited.

When they handed me Tessa,  not exactly sure what I would see, my shell-shocked husband attempted to explain her “strong markers” to me.

I didn’t see them.  It was only Tessa, my sweet girl.  In that moment, Down syndrome was everything and nothing to me at the same time.

Later in the afternoon, once Tessa was off in the NICU and John and I were alone in our room, the geneticist came in to tell me more about my girl.  She was not cold, nor was she discouraging or overwhelmingly positive either.  She took a very brief history.  Intrigued by my past miscarriages, she explained the different types of Down syndrome and asked about the genetic testing on the other babies (both had been “normal”).  She said something along the lines of “look, I’ve seen your baby.  She has it.  I’m as sure as I can be without seeing the test.  But I promise, we’ll call you as soon as we get the official results.”

Later in the NICU, I examined every little bit of my baby.  I didn’t get it.  Something about a line on the hand?  A flat nasal bridge?  Her neck was different?  But she looks just like Ellie!

John and I went back and forth about when and how to tell our families.  I insisted that we wait until we had official results.

You know, in case they were wrong.

And we waited.

Tessa was born on a Wednesday afternoon and the call came on Saturday morning.  I didn’t pick up the phone, though I knew who it was.  The results were in and she was positive for nondisjunction Trisomy 21, the most common (and random) type of Down syndrome.

I just didn’t see it.

I kept waiting to fall apart.  The moment never came for me.  It does for some.  For me, there was a lot of information and tests, then she was home and it was Christmas and New Years and on we went.

I still don’t see the Down syndrome in Tessa most of the time.  I still look at my little girl a lot and try to find what they tell me is true.  I still wonder if our tests got mixed up and they were wrong.  (And if they were wrong, are we going to get in trouble for all the Early Intervention that we have used??)  When I take her in public or show her picture to strangers, I wonder if people know.  I’m not in denial.  I know she has it.  Sometimes, I take her picture and I see it.  But mostly she’s just this beautiful, wiggly little thing.  She’s my girl.


4 responses to “The Diagnosis

  1. Joanne says:

    Seems we are experiencing the same thing. Feeling as though DS really isn’t a part of our kids…Like even though we KNOW they have it, in every other way, they are just typical, cuddly, lovely babies…we’re just kind of waiting for the other shoe to drop.

  2. Jennifer H says:

    I love this post. It is our story too. Thank you so much for sharing.

  3. I totally understand everything that you said. Sometimes, a tiny piece of me hopes that they screwed up Thatcher’s karyotype, as though that was possible. I see Thatcher as Thatcher, not as someone with 47 chromosomes, and I hope that everyone else does, too. Our kids are phenomenal, both in spite of and because of those flat nasal bridges, the funky hand lines, the walnut toes, and the beautiful brush field spots that make their eyes sparkle. ❤

  4. […] the day from the perspective of others who were there.  My side of the story can be found here and here.  I hope you enjoy hearing what everyone else has to say for a change. […]

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