47,XY,+18.

These letters and numbers would have meant nothing to me a month ago.  Just randomness.  But when I was handed a sheet of paper yesterday with 47,XY,+18 on it, I knew exactly what it meant.  Our baby has 47 chromosomes, is a male, and the extra chromosome is on the 18th.  They’ve seen his cells, mapped out his chromosomes, and we have an official Trisomy 18 diagnosis.

 

It’s not surprising to us.  The genetic counselor and perinatologists were so certain after their findings on the ultrasounds.  They told us we wouldn’t know for sure until we had the amniocentesis results, but they were so certain, that we knew it would be the case.  It was just a matter of confirming it.

 

It’s now confirmed.  There’s no question about it.  And while I knew deep in my bones that he had this syndrome, it’s still harder than I thought it’d be to find out for sure.  Any hope we had that maybe Gabriel just had a pile of birth defects that could be repaired and dealt with is gone.  Any hope of it not being a trisomy, a worst case scenario, is gone.

 

Hear me say this though…  

Our hope isn’t gone.  Because we know the One, we have hope.  Hope that we will get through this.  Hope that He will use this for good.  Hope that He will sustain us  and Gabriel daily until the days He has written for us are done.

 

Know that we have hope.  But the honest truth is that it’s hard to feel that now.  Hope is there– it always is.  Truth doesn’t go away just because of hard times.  And God is hope is truth.  But sometimes it’s easy to truly say those words and others it’s hard.  They’re still true, but it’s hard.

 

We found this out on Thursday, and since then I’ve felt short on words.  I’m not really sure what I’m thinking or how I’m feeling.  I think I’m just deeply saddened.  We met with the genetic counselor and our perinatologist to go over everything.  We were there for 2 1/2 hours, just talking.  They really put it in our hands as to how we want to do everything.  We talked a lot about what the big things are that we need to make decisions on.  We talked about next steps and possibilities.  We asked a lot of questions and soaked in information from the wisest, and best doctor we could have.  He was so honest and truthful with us — he told me what he’d tell his daughters if it were them.  We’re thankful for him.  He makes this better for us.  It is such a blessing that he is a friend of our family’s.  Who would have ever known 15 years ago when we vacationed with their family, that he would later be taking care of my little family and delivering our special Gabriel.

 

So from here we will go see some specialists.  We’ll see the pediatric cardiologists, and neonatologists, and team at Children’s Hospital.  We’ll gather information, but it won’t change anything.  No one can fix our baby, but we need to know some things in order to make the best decisions for him.

 

I had been somewhat looking forward to getting to this point.  I think I thought that having a plan and meeting with these people would make things better.  Like we would have some control and be able to do some things.  But I realized immediately Thursday, that while we can and should talk to these physicians, it won’t change anything.

 

 

 

We are so thankful for so much love and support.  We are so thankful for prayers for Gabriel and us.  We are so very thankful for you.

 

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7 thoughts on “47,XY,+18.

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