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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12/52.

A taste of spring.


Ellie, chasing her shadow through the grass.  She wouldn't walk on grass barefoot last year.  Or in sandals, because she could feel the grass touch her feet.  I guess she's over it.

Linking up here.
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Friday, March 20, 2015

World Down Syndrome Day #WDSD

Tomorrow is 3/21, ‪#‎WDSD‬, or World Down Syndrome Day. There's a few campaigns out there. One is to wear crazy socks, which is cool, but doesn't have much to do with Down syndrome. My absolute favorite idea is to do a random act of kindness in honor of someone with Down syndrome. Or if you want to honor Ellie, a random act of making someone laugh really hard.
Feel free to share this post/campaign.

Photo copyright Megan Landmeier, 2015
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Wednesday, March 18, 2015

Big News.

Announcing...


Things in our world have been pretty crazy lately!  If I've been less-than-loyal to this space, it's due to the morning sickness and exhaustion that have taken over since January.

And the outtakes:


Matt's favorite.
Edited to add one more favorite outtake... this is what Matt posted on his Facebook page as an announcement.


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Monday, March 16, 2015

New Toys.

Ellie's birthday a couple weeks ago led to some fun new toys in our house, but one of my favorites was Squigz.  I had never heard of them, but check these things out.

The Squigz Starter 24 piece set is on Amazon.  Ellie used them to make a reindeer and to practice fine motor skills.  I was pretty surprised that there was such an awesome toy I'd never seen before, but they're pretty fun for the grown ups, too.
A photo posted by Megan Landmeier (@meganlando) on
Ellie also loved another fine motor toy, which I've seen before from my kindergarten friends but I hadn't purchased yet.  These Magformers are another big hit in our house.


A photo posted by Megan Landmeier (@meganlando) on
Fine motor skills have been the bane of Ellie's existence ever since she figured out how to walk, and her now consistently-worn glasses are making a big difference.

The day after Ellie's birthday was a snow day, which meant we stayed inside and did lots of crafts.


A few days later, we picked up the new glasses.  Ellie has worn this pair much more consistently than her first pair.  A few things helped this time around.  First of all, Ellie was willing to try on glasses, which led to a better fit.  Secondly, Ellie is much more aware that "glasses help to see!"

Despite the weekly photo yesterday featuring her very sad face in glasses, Ellie likes them and wears them fairly consistently.



A photo posted by Megan Landmeier (@meganlando) on
And some more, just for fun...



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Sunday, March 15, 2015

11/52.

Ellie wasn't thrilled about the wind.

And she's a bit under the weather.

This week's portrait is what I like to call REAL.

Here's hoping she feels better soon and is back to her smiley self!



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Sunday, March 8, 2015

10/52.

A birthday week of fun.

A day-after-birthday-party with sunshine, church, gymnastics, and melting snow called for chalk outside.  Especially after the world's grumpiest wake up from a nap.

Shot with my NEW Nikon D610, 50mm, ISO100, f2, 1/400

Linking up at Practising Simplicity.
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