Sunday, March 22, 2015

Prenatal Testing: Round 2.

One of the first questions that came to mind when we got Ellie's diagnosis was, "Will this happen again?"

The odds of having a child with a chromosomal difference after having a child with Down syndrome are 1/100.

A one percent chance of having a second child with Down syndrome.

When we were still pregnant with Ellie, that was a devastating statistic.  The odds of Ellie having Down syndrome were very slim, and she clearly has it.

But time has greatly changed our perspective on Down syndrome, and I couldn't imagine a child more wonderful than Ellie.

Wait.  Now I'm imagining a child like Ellie who sleeps past 5:30 am.  

But in general, I can't imagine a child more wonderful than Ellie.  If I could change one thing about my daughter, it would be her sleep, not her Down syndrome.

Since August 2010 when we received her diagnosis, a lot has changed.  Not only have I learned about my daughter's disability and realized that there's nothing wrong with it, but the prenatal testing/screening scene has also changed.

In 2010, a marker spotted on an early ultrasound led us to CVS testing, an invasive and highly accurate test that told us we'd have a little girl with Down syndrome before most people even knew we were pregnant.  (It was also my first pregnancy and I didn't show nearly as early!)

Now, it's 2015.  Never wanting to undergo invasive testing again, I opted for a new screen known as NIPS, or non-invasive prenatal screen, or non-invasive prenatal tests, or free-cell DNA testing.  There are lots of names.  The test screens for gender as well as the three major trisomies.  It's considered non-diagnostic, as false positives do exist, but combined with ultrasound makers can give the clearest idea without CVS or amniocentesis.  Marketed by several companies, the test is also known generally by it's brand names, including MaterniT21, Harmony, and Panorama.  The test my OB uses is called Verifi, but all are fairly similar.

Minimal information is provided in the test pamphlet about Down syndrome.  If I didn't have a child with Down syndrome, I wouldn't know much about what I was being tested for.  The information about Down syndrome wasn't overly negative, it was just.... missing.  Knowing that I'm one of 800,000 who took this test in the past year, combined with the minimal information provided by the test makers was discouraging.  (More information on test statistics can be found here, and I highly recommend the whole blog to understand prenatal testing.)

I honestly think that a copy of the Lettercase booklet should be given with every NIPS.

I had blood drawn on a Friday, and a snowstorm delayed my blood's journey to the lab, so a week and a half later, I was back in the doctor's office for a second blood draw.  Although the turnaround time on the tests is 7-10 days, the further one lives from the lab, the longer the results take.  I live near DC.  The lab is in California.  And for some reason, the blood travels by way of New York.

Eight days after the second blood draw, we got our test results.

So why did we bother with the testing if we knew we would keep a second child with Down syndrome, and we have appropriate supports and a medical team already in place from Ellie's birth and first year?

Because a diagnosis changes things.

I hear all the time, "I wouldn't change anything, so I didn't get testing."  And that's okay, but I disagree.

We researched health insurance.  (An earlier version of this post stated that we changed, but my husband reminded me that we ended up keeping the insurance plan we were on after many hours of research.)  We added four doctors.  We changed post-birth plans.  We learned about Down syndrome, heart defects, GI defects, and the NICU.  We researched early intervention.

Down syndrome changed things for Ellie.  And we wanted to be ready for baby #2, should this child also have extra-special chromosomes.

The phrase "as long as it's healthy" bugs me.  A lot of kids aren't born healthy.  Some, like Ellie, eventually reach a point of health.  Not all do.  And they are still valued and wonderful.  Down syndrome doesn't mean unhealthy.  But Down syndrome ups the odds of certain structural problems with the heart and GI system, and those do mean unhealthy, at least for a time.

I'd rather not do open heart surgery again.  Or the NICU.

But Down syndrome?  That doesn't really bother me anymore.

I told a friend the other day that I can get praying for a baby not to have a heart defect, but I can't reconcile praying against Down syndrome.  It's too much a part of Ellie, and her extra chromosome isn't hurting her.  She is fearfully and wonderfully made.  She has a genetic anomaly that is a fluke.  Both are true, and not mutually exclusive.  (To read more on that, check out A Good and Perfect Gift, by Amy Julia Becker.)

This is the part where I should probably share the test results.  I cried when I got them.  My doctor called when I was in a meeting with three colleagues.  I answered my phone and took the information right there, warning my friends that I would cry regardless of what the doctor told me.

But the Down syndrome information is just that, information.

As it turns out, no sign of Trisomy 21 (or 13, or 18) is present for baby #2.

I'm sad that this baby will be different from Ellie in a very basic, genetic way.  I cried because of that. I'm happy that the odds are now very much against this child requiring open heart surgery.  I cried from the relief of that.

And I'm terrified of parenting a typically developing child.  Just like I was terrified of parenting a child with Down syndrome.  Just like every parent is terrified.  (You are all terrified, right?)

As for gender?  We know the test is pretty accurate, but no one has exact numbers, so we'll wait to announce the gender in this space until we get confirmation at the 20 week ultrasound.
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  1. I am excited for Ellie getting a sibling and that you are getting info you appreciate to be prepared. Yeah for babies!

  2. Congratulations and great sentiments; I have the same feelings around the phrase “I just want a healthy baby” - !

    1. I wonder how many times in the short amount of time I was pregnant with Ellie prior to her diagnosis I said those same words? I just had no idea....

  3. This is beautiful Megan. So, so happy for you. And yep, we're all terrified

    1. Thanks you! I suppose a bit of fear is healthy in parenting :)

  4. Great post, Megan! When we got our typical chromosome results, I cried too. Just....a lot of emotions.

  5. I can't tell you how many times I've looked at parents of "typical" children and thought, "How do they do it?"
    So - good luck with that! <3


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