Braxton's Story - Diagnosis

"I think your son might have Down syndrome."

I heard those words and wanted to throw up.  We were sitting in the little area of the NICU where Braxton's incubator was, behind the closed curtains.  It was our first morning there after a scary afternoon and night before.  Braxton was finally seeming stable - on fluids, temp rising - and we were finally starting to breathe a little easier.  We still had the issue of Braxton not pooping, but the enemas were being given regularly and we felt sure that the poop would come soon.  It ended up taking a couple more days for the poop to come, but it did, and it hasn't let up since.

I looked at the Doctor in quiet disbelief.  Our son was three days old.  How was it possible that he could have Down syndrome?  Isn't that something that is noticeable from the moment babies are born?  The midwives didn't say anything.  Our friends and family didn't say anything.  Not even the Nurse Practitioner, who was the one who sent us to the hospital, said anything.

Brian and I looked at each other in shock.  The Doctor said a few things about the signs he was seeing.  Something about Braxton's eyes, and an extra fold of skin on the back of his neck.  He also pointed out some "typical" signs that Braxton didn't have.  Things like square hands and a curved pinkie finger.  Then he paused for a moment to let Brian and I catch our breath.

I wanted to cry, or scream, or shout "NO!" and run out of there with my baby.  But instead, the words that came out of my mouth kind of surprised me.

"God has been preparing me this entire pregnancy to hear those words."

The pregnancy itself was a surprise.  We hadn't been trying to get pregnant.  Once we got over the initial shock of having another baby, we were really excited.  Every day of the pregnancy Brian would pray over me, asking God for a healthy pregnancy and a healthy baby.  I think every parent worries about their unborn child, and whether or not they will be healthy or "normal".  Most people worry for nothing.  Both of my prior pregnancies resulted in healthy babies, so really, what did I have to worry about?

Yet early on in the pregnancy I couldn't shake the feeling that something was wrong with my baby.  I even told a friend that I couldn't get Down syndrome out of my mind.  I tried to brush it off, telling myself that it wasn't of God to worry.

Then came our 14-week ultrasound, which was the morning after the night we though I had miscarried.  This ultrasound was the first in a series of genetic tests.  We were actually having second thoughts on getting the tests done, as they typically have a high percentage of false-positives.  And we knew that we wouldn't terminate the pregnancy for any reason, so what was the point in subjecting ourselves to worry.  But given the fact that we thought we had lost the baby, we decided to go ahead with the ultrasound.

Amazingly, the ultrasound showed an active, kicking baby.  Brian and I watched in wonder as our little baby moved around while the technician took measurements.  We were so relieved to see an active baby that we didn't care what the results were - or at least we didn't put much thought to it.

A few days later I got a call with the results of the genetic screening.  "The results came back reassuring. Your baby has a 1 in 86 chance of having Down syndrome."

Reassuring?  1 in 86 is reassuring?  They assured me that anything above 1 in 50 was good, although they do like to see the number more in the thousands.

Yikes.  I didn't feel good about those numbers at all.  But we reminded ourselves that there was only a 70% accuracy in that test, so that brought the odds even lower.

Ultimately I brushed off those test results, chose not to get the follow-up test, and decided not to stress about it.

Throughout the pregnancy my eyes were opened up to Down syndrome more than ever before.  A blog friend of mine announced that she and her husband are adopting two girls with Down syndrome.  About a year ago I read this birth story.  Then five days before Braxton was born I read this.

When the Doctor left us alone to digest what he had just told us, Brian and I looked at each other, burst into tears, and hugged.  We prayed that the test results, which were expected to come back in 72 hours, would be negative.  We notified our immediate families, and the pastors who came to the hospital to pray with us.

The next 72 hours were long, and an emotional roller coaster.  At times one of us would be strong while the other one broke down.  Sometimes we both broke down together.  We talked about lost dreams we had for Braxton.  Things like getting married and having a family.  We talked about how we worried about him being accepted as he grows up.  And we talked about all the other scary health issues that can arise with Down syndrome.

We tried to remind ourselves that we didn't have the results back yet, so nothing was final.  We spent a lot of time just staring at Braxton and studying his features.  For the life of me, no matter how much I tried, I couldn't see anything wrong with any of his features.  Then one night when I went home from the hospital for about an hour, I hopped on the computer and looked at the pictures we took right after Braxton's birth.  There it was.  In every single photo, I could see it.

When Braxton was born, there were three immediate thoughts that went through my mind.  First, of course, was "is he okay?"  A distant second was, "is it a boy or a girl?"  And finally, as the midwives left the room, I leaned over and whispered to Brian, "is his ear okay?"  That thought that I had suppressed the entire pregnancy suddenly came rushing back as I looked at Braxton's ear.  The shape seemed odd to me - kind of squished and puffy at the same time.

Brian assured me that the ear was just that way from delivery.  And since the midwives didn't say anything was wrong with him, I breathed a sigh of relief.

Friday was the day we were to get the results, and we anticipated that day like no other.  I was holding my breath, standing at a fork in a trail, waiting to see which direction life would be taking us.  I wanted to have faith that Braxton would not have Down syndrome.  But my mind and heart were both telling me otherwise.

The results didn't come in Friday, or even Saturday, as we were told they would.  As agonizing as that additional wait could have been, I think God knew we needed some extra time to continue to process things.  We continued to pray, and continued to have faith.  And we realized that "having faith" didn't just mean believing for negative results.  We realized that having faith meant trusting in God's plan, no matter what.  We also had to let go of our plans for Braxton and realize that God created him for a specific plan - extra chromosome or not.

On Monday afternoon, back at home with Braxton, we called the hospital to see if the results were in.  All the Doctors were gone, we were told, and the nurse wasn't sure about the results.  We called the Pediatrician just to see if the results had been faxed to her office, and sure enough, they had.  But all the Doctors had gone home there, too, and the nurse couldn't give us the results.  That was the most agonizing part - knowing the results were in, but that no one could tell us.

I was upstairs folding Braxton's laundry and Brian stepped downstairs for a moment.  I could hear the phone ring, and Brian answer it.  He came quickly upstairs and hung up just as he was entering our bedroom.  His face said it all.

Our boy has Down syndrome.