1 in 240

For the last month, we have found ourselves in an unexpected situation.  What we thought was going to be an early peek at our baby turned into this:

August 20, 2012
After our unsuccessful ultrasound on Thursday, baby decided to cooperate today.  Unfortunately, the measurements that screen for certain chromosomal disorders came back abnormal.  I was all by myself this time and was quickly whisked into the doctor's office.  She began explaining what all the measurements meant and asked a genetic counselor to talk to me about our options.  The counselor said she was late for another appointment, but would take a second to chat with me.  For the next 15 minutes, I sat there listening to all the tests we could have done.   Risk factors, percentages, viability, disorders, defects, decisions...this is really happening.  One of the more invasive tests needed to be completed within the next day or so.  It is invasive and risky.  Another option was to wait for a less risky, more accurate amniocentesis in a few weeks.  Both could result in miscarriage.  How badly do we want answers?  Will it change anything?  How can we make a decision like this on the spot? My pregnancy with the girls was high risk and now we are faced with something that seems even scarier. 

Once I got home, I looked up at Mate (with tears in my eyes) and he reminded me that this is our struggle.  I used that phrase back when we had our miscarriage and was hoping that would be the last time.  Unfortunately, it wasn't.

We have resources, a home, family, love, support.  We can handle this.  We can raise a child with a disability or face losing our baby prematurely.

August 25th
Almost a week has passed since our unexpected news.  Although, my blood work results have not come back yet, we are less concerned each day.  I should have heard something on Thursday, but now it looks like we will have to wait until at least Monday.  Surprisingly, I'm not that anxious about it.  Mate, of course, is completely at ease.  His parents were told that he was going to be born with a disability or heart defect and he was perfectly healthy.  He keeps saying it must just be his Croatian genes.  I jokingly tell him that I'm not having anymore of his Croatian babies, then.  This stuff is scary.

Obviously, we are hopeful that we are part of the 93% of people who receive this news and go on to have healthy babies.  If we are, I think I'll be grateful for this experience.  It has reminded me of how lucky we are to have two healthy children and the ability to care for a baby who may not be.  I don't feel sad or sorry for myself.  I tend not to do the "why me" thing.  Why not me, is a more fitting motto.  Not that I don't feel like we have had our fair share of pregnancy complications, but we've also had more than our fair share of good.  That's what I choose to focus on.

We are not going to end the pregnancy if something is wrong.  We will not put our child through procedures that won't make a difference in the long run.  We will know when to let go, if need-be.

Having these conversations and feelings isn't enjoyable.  Whether this becomes our reality, or not, I have learned about myself through this process.  I have been reminded that things don't always work out as planned.  Whatever our future holds, we're ready.

August 28th
I received a call from the genetic counselor today.  My blood work came back and shows that there is a risk for Down Syndrome, but we can rule out any of the more serious trisomy disorders.  For us, this is good news.  Without any further testing, we are looking at a 1:240 chance of having a baby with Down Syndrome.  Half a percent chance...we'll take those odds. We are so relieved to know that we don't have to make any of the more difficult decisions we were facing before these results came back.  We'll be having a meeting with the genetic counselor next week to discuss a new blood test that may give us even more information.

I talked to my mom today and she said whatever happens is okay.  I know that, but hearing it from someone who will be such an important part of this baby's life was helpful.  I know Mate and I will love our child no matter what.  To say I am not worried about other people, would be untrue.  I think most of the people in our lives are pretty great and I'm not trying to sell anyone short, but you never know.  One thing I absolutely won't tolerate is a difference in treatment from one child to the next.  The five of us are a package deal.  If you can't accept all of us, you can't have any of us.    

September 5th
Today, we had our appointment with a genetic counselor. She went over our test results in more detail, asked about our family history and then explained our options for further testing.  We decided to go ahead with the blood test that should give us a definitive answer about Down Syndrome.  This fairly new test won't be covered by insurance, but we think it's worth the cost.  Within 10 days, we should have some results.  The genetic counselor said she expects normal results, but you just never know.

As my blood was being drawn, I kept thinking there is no turning back now.  There was some strange comfort in not knowing.  If the results are normal, we can focus on the next ultrasound where doctors will screen for a heart defect.  If they're abnormal, we'll start preparing to raise a child with special needs.  You never really picture yourself in this type of situation and then, all of a sudden, here you are.

September 11th
I saw my doctor today for a check-up.  She found baby's heart beat right away and said it sounded perfect.  Then, she asked me how our meeting with the genetic counselor went.  Before she left the room, she told me I'm handling this better than most people do.  I appreciated the compliment.  On the way home, I started thinking about how I'm actually feeling.  Knowing that most of her patients have a difficult time accepting this kind of news made me wonder why I feel okay.  I came to the conclusion that it's just who I am.  I want to teach my children to value all people regardless of their abilities.  If that doesn't start within our own family, we've got a problem.  For us, there is no other option but to love and accept this baby.

September 14th
We should be getting a phone call today.  I'm anxious.  Are we the 1 in 240?  I asked Mate if he wanted me to call him at work regardless of the news.  Without hesitating, he said yes.  I think he is expecting good news, but I also know that he will be okay either way.  If we don't get the call today, hopefully it will come early next week.

Five minutes before 5:00, just when I was sure we'd be waiting all weekend, my phone rang.  I recognized the number and my heart began to pound.  I could tell by the genetic counselor's voice that she might have some good news.  She did!!!! Our blood work came back normal.  We can be 99.9% sure that our baby does not have a chromosomal abnormality.  To say we are relieved is an understatement.  I am so glad we decided against any tests that would have potentially harmed the baby.  I am also very thankful that we were able to have the blood test done even though insurance won't cover the cost.  It was worth every penny to us.

While we can rule out the chromosomal abnormalities, there is still a small chance that our baby may have a heart defect.  We'll find more out at our 20 week ultrasound in October.

What a roller coaster...