Friday, June 22, 2012

Our Baby - What I Know

Today I wait.  I wait for the results of a test.  I wait to hear the results that, to be honest, won't change anything.

The fact is that if the results come back positive we will have a name for what we face.  If the results are negative it doesn't really change anything.  It doesn't make the problems go away.

What I know now is that we are going to be challenged.  Our baby will have needs I can't even begin to imagine.
20 Weeks
When we went in for our 20 week ultrasound, I had a bad feeling.  It was June 13th.  I won't lie.  The date made me uneasy.  June.   My unlucky month .  The 13th.  That just couldn't be good.  
Waiting room before the ultrasound
The ultrasound technician was pretty quiet the whole time.  A few times she mentioned that the baby was moving around and making it hard to see things.

When we finished she told me, "the doctor will follow up with you with the results."

Those words kept playing over and over in my mind.  The doctor will follow up with me?  Why does the doctor need to follow up with me?

I tried to dismiss my fears.  Maybe she just always says that.  Maybe it didn't mean anything.  Maybe.

The next morning I got the call.

What I heard the doctor say was that the baby had a cracked rib and that the technician couldn't find a stomach.

What she had actually said was that the baby had a cleft lip and the technician couldn't find a stomach.

In tears, I ran frantically up the stairs to tell my husband I had to go in to a specialist right away for a more detailed ultrasound.  Thankfully he was working from home and we dropped off the kids with my sister-in-law and went straight to the doctor's office.

Then we sat and waited.  My husband spent our time looking things up on his phone.  At one point I picked mine up.  I couldn't take it anymore and I had to know.  He practically snapped at me.  "What are you doing?"  "What do you think?"  "Don't."  My stomach churned.  All I could think about was that cracked rib.  How could that happen?  Was there no stomach and the ribs were imploding?!

Finally we were called back for the ultrasound.

This technician was more vocal.  She described everything she was looking at.  All I could do was look for a stomach.  She kept focusing on the heart.  I figured she was really looking for the stomach but didn't want to freak us out so she was pretending to look at the heart.  Still, she kept measuring the heart.  I wanted to shout out, "THE STOMACH!  FIND THE STOMACH!!"  Finally she moved down a bit and I saw a little black spot.  Could that be it?  Casually she mentioned it as she continued on.  "There's the stomach and those are the kidneys."  We breathed a sigh of relief.  "Thank you God!  Everything's ok."

Then the doctor came in.

"You guys are here about a cleft lip."

"Cleft lip?"

He stopped and looked at us.  "What do you know?"

"Nothing really.  Something about a missing stomach."

"The stomach is fine."

Then he delivered the news that turned our world upside down.

The baby has a bilateral cleft lip.  It extends all the way up on both sides to the nose.  It's possible that there may be also a cleft palate but we can't see inside the mouth.

Ok.  Not the best news but that's fixable.  Certainly not as bad as the missing stomach we had been fearing.


The baby also has some other "abnormalities."

The heart has not developed entirely correctly.  One side is bigger than the other.  We will have to make an appointment with a pediatric/fetal cardiologist for more specific information.

And there are also "abnormalities" in the brain.  He proceeded to explain exactly what was wrong with names of the parts of the brain affected.  All I know is that the area in front is too large and something small in the back is shifted slightly to one side.

"Because we have more than one abnormality we start looking for a cause.  This is when we start thinking syndrome.  Not Down's Syndrome but something like it."


We were sent into another office to talk to a genetic counselor.  She spoke softly and kept putting her hand over her heart.  Like we were at a funeral or something.

She showed us charts with images of chromosomes.  She told us that they suspect either Trisomy 13 or Trisomy 18.  She was inclined to think Trisomy 13 because of the cleft lip.

Then she told us that Trisomy 13 has a 90% mortality rate in the first year of life.

She recommended an amniocentesis which I immediately rejected.  I didn't see any reason to take the risk.

I could see in my husband's eyes that he was torn.  He needed to know.  He is a planner and he needed to do something.  Anything.  Even if it didn't really make a difference he needed to be able to feel like there was something he could do.

The doctor came in and he said something that made me pause and begin to reconsider.  He mentioned that the test could make a difference as far as treatment is concerned.  It might affect which hospital I should deliver at, for example.  So, having the test could possibly help my baby in some way?

The genetic counselor also mentioned that the statistics regarding the risks of an amniocentesis don't really account for the fact that most women who choose to have an amniocentesis are already at a high risk for miscarriage.

We were also given the option for a blood test.  The problem is that the blood test is fairly new.  It is not covered by insurance though the cost seems fairly low if it would eliminate any risk to the baby and if it's dependable.  Something like $250.  The lab they go through has a reliability rate of 91%.  However, they have only been performing the test for 7 months.  That really makes me question how many babies have actually been born since they started.  I mean if we are talking about something like 9 out of 10 babies born have been accurate it could still be mere chance.  The blood test is also becoming more and more popular and they don't have the resources to keep up with the demand.  As a result there is a long wait time for results.   The other problem is that if the test does come back positive they recommend an  amniocentesis  to check the results.  Which pretty much puts us right back at square one.  

The genetic counselor kept asking if we had questions.  Obviously we were in shock.  Only one question was racing through my head.  Why?

Why me?  I don't have the strength for this.  "God why would you choose me for this?  I am not a strong person.  You are going to have to give me the strength to get through this.  I don't know how to do this.  You are going to have to give US the strength for this."

I think the part that hit me the hardest was the thought of my other children.  How and what would we tell them?!

All I could think of was the way the Peanut reminds me every night to take my prenatal vitamins.  How he asks me first thing every morning how the baby is doing.  Is the baby awake yet?  "Good morning Baby."  I love you Baby."  How he talks to the baby in my tummy and sings to the baby and asks a thousand questions a day about the baby.  How he is so excited about his birthday, not because of all the presents or the party, but because the baby will be coming soon after that.  How he asks me to try different foods because the baby might like it.  "Mom, you have to eat a goldfish cracker because the baby might really like it."

Why us?

We went in to meet with my OB/GYN after our other appointment.  Again I find myself so grateful for a doctor who actually comes into the room and sits down to talk with me rather than simply check me off her clipboard.  She encouraged us to have the amniocentesis.  She said normally she wouldn't encourage it but in our case, since we knew for sure something was wrong, she recommended it.  We went ahead and scheduled one for the following Tuesday so that we could spend the weekend discussing it and cancel if necessary.

I'll be honest.  Having something specific to research is a bit appealing to me.  I am a researcher.  Google is my friend.  And I have been known to, on occasion, self diagnose based on my online research.  Bad I know.  Web MD hasn't failed me yet...

The problem is that I can't really get much help by googling phrases like "fetal heart defect" or "fetal brain abnormality."  I have had to refrain from doing the kind of research which could only serve to make me crazy.

So, true to form I started researching amniocentesis risks.  What I found surprised me.

What I knew before I started researching was that there was some kind of risk that an amniocentesis could cause a miscarriage.  I had actually had a random conversation with my sister-in-law only a few days before and for some reason we started talking about amniocentesis.  I told her I couldn't understand why anyone would take that kind of risk simply for information.  Of course at the time I had no idea what the risk was specifically.

I looked it up and immediately decided to cancel.

From Wikipedia, "Studies from the 1970s originally estimated the risk of amniocentesis-related miscarriage at around 1 in 200 (0.5%). "  .5%? That is the exact same risk as the risk of rupture during a VBAC. I attempted a VBAC when my daughter was born and developed a thin spot. Came close to rupturing.  In the case of the VBAC the benefits outweighed the risk for me. This was different.  Not worth it.

I kept reading. " A more recent study (2006) has indicated this may actually be much lower, perhaps as low as 1 in 1,600 (0.06%)."  Better...

Then I read this. " Unlike the previous studies, the number in this study only reflects the loss that resulted from amniocentesis complications and excluded the cases when parents decided for an abortion following the test results."  Wait.  Why in the world would you not exclude those cases to begin with?  When you are talking about the risk of the test causing a miscarriage why would you include the cases in which the parents willingly chose an abortion?  Clearly that isn't caused by the test but by the choice of the parents.  If you want a study showing that the test results in a higher rate of abortions then obviously use those numbers but when you are using the study to relate a risk from the procedure itself only include cases in which the complications were related to or resulting from the actual procedure!

Then I found this article.  Which basically said that in the more recent study there were two groups.  The group that chose an amniocentesis and the group that did not.  " About 1% of the women in both groups miscarried before 24 weeks of  pregnancy ."

Which brought me back to what the genetic counselor had told us.  If the rates of miscarriage were actually the same for both groups, then can you actually blame the test itself for any miscarriages?

So I made the decision to go forward with the test.  If the risk was actually small if really any, and the resulting information could in any way help my baby, I would go forward.

On Tuesday I went in and had a gigantic needle (so I hear, I didn't look) inserted into my stomach.  Amniotic fluid was drawn and sent away for genetic testing.

I was a bit nervous but I figured if I could deal with a giant needle in the spine (epidural) I could deal with one in my stomach.  I will tell you there is one significant difference between the two.  With the epidural, after the needle goes in, the pain medicine goes in.  So you really only have to deal with the going in part.  With the amniocentesis, the needle goes in (not really a big deal) and then kind of wiggles around (ok, ow) and around (ow ow ow) and just kind of hangs out there until it finally comes out.  It wasn't by any means unbearable but it wasn't the most pleasant feeling.

And now we wait.

And we wonder.

Why us?

And I have come to a realization.

The truth is that I am not one of those people who has it all together.  Obviously.  I really can not begin to understand why this is happening to us.  I can't begin to understand why things like this happen to anyone.  I know I don't have the strength to get through it alone.

But I am not alone.

And this baby is not alone.

And I know one thing for sure.  One thing this baby will need more than anything else is a whole lot of love.

And if God was searching for a family full of love for this baby, He certainly found one.

The outpouring of love and support we have had from friends and family is staggering.

And I have made a decision.

Whatever the results of this test say, I will do everything in my power to fight for our baby.  I'm not planning on entertaining false hopes or pretending nothing is wrong.  But if we are looking at Trisomy 13, I'm not going to focus on the 90% mortality rate.  I'm going to focus on the 10% survival rate.  I will do anything in my power to help this baby be one of those survivors.
Baby's tiny foot!
And I ask for your continued prayers.  Prayers for the health of our baby.  Prayers for strength and wisdom as we travel this road.

Update:  Before I had the chance to post this my husband got the call we had been waiting for.  Trisomy 13 has been confirmed.