Our journey through a prenatal Trisomy 21 (Down syndrome) diagnosis and beyond

I wish it were possible to recognize at the beginning of our life’s story what an incredible journey we are truly on. If so, I would have sat down years ago and begun documenting all the ordinary and extraordinary events in this amazing life I have been blessed with. Sometimes, though, it may take just one more thing to open your eyes into the beauty of the life you have led and causes you to pause and truly count the blessings that are now so many they will never be enumerated.

If you are just joining us, please go back to September 2012 to get caught up.



Thursday, September 27, 2012

The ultrasounds

When I went for my first ultrasounds with baby 4, I was so focused on cervical lengths, that everything else was secondary.  We had seen the little one a few times and the heartbeat.  I had a doppler at home and listened to the heartbeat daily.  It was all about the cervix.

The 12 week ultrasound recorded a cervical length of just under 3.  Not good.  I relied on data from the KeepemCookin' website to guide the numbers and this was not looking good.  I decided to go ahead again with the 17P shots in hopes to prevent preterm labor again this time around.

At 15 weeks, before starting my shots, I had another measurement done and it was nearly the same, not worse.  Things were looking up!

August 21, 2012
This being baby 4 and not having major issues, I didn't reschedule my 20 week anatomy scan when I found out Brian had bids that morning.  I had already waited 2 extra weeks to schedule once the kids were in school and we were seasoned parents. I skipped off to my appointment anxious to see the little one moving and grooving around.

The tech I had that day was my favorite of the two at the office.  She was always very friendly and informational.  She checked my cervix first and measured it at 3.5!  I was thrilled--it was longer than the first times and that was great news.  Then she moved on to check out the little one. We (I) decided that we would find out the gender, but keep it to ourselves this time.

 ***sidenote: With Colton, we brought the kids that day so that they could find out when we did.  Kate cried when she heard/saw it was a boy.  We did not want any tears this time around and thought finding out and seeing the baby at the same time would be best***
The tech was wonderful as she measured and checked all the pieces and parts of baby Jacob.  She talked to me as she worked and printed out many photos for me to bring home.  I was on cloud 9 knowing that all the parts were there and breathed a huge sigh of relief that I didn't even realize I had been holding during the scan.  

I waited to meet the doctor and continue to plan for the rest of the pregnancy.  I waited much longer than I believed I would and my stomach dropped a bit when I met the doctor's eyes as he walked in.

He asked me a few questions and then asked me to join him sitting down.  I won't soon forget his words, "These are difficult ultrasounds to go over and share."  At that moment I felt like I was watching myself from afar or on television. I felt like I was listening in on the conversation as a third party.  The doctor continued to show me the images from the ultrasound and assured me that all the baby's functions looked good and is healthy.  Then he stopped when he got to the baby's face and profile pics.  He talked about the baby missing a nasal bone and how this was a marker for Down syndrome.  He assured me the tech was quite qualified and usually saw things clearly. (I remembered back to the scan as she struggled to get a "good" profile pic and had me move around a bit.  I never noticed anything off, but it was odd that she looked for a long time.) He went on to show how everything else looked just fine; no other markers. 

As he finished, his other comment still remains in my heart, "You will need to talk with your husband and decide what to do."  I listened as he talked about a referral to a perinatalogist for a level 2 ultrasound and possible amniocentesis for a diagnosis.  I left the office and cried on the way out to the car. I was so worried about all the medical and social ramifications of what I had just heard. I had planned to go to the store and pick up a cute gender-specific outfit to share the news with daddy. Now I just wanted him to hold me.  I drove the 40 minutes to his office, praying he wasn't on a job site and called him to come out to my car.

I felt such a heavy heart as I shared with Brian that our baby may or may not be "perfect." My emotions overwhelmed me and my husband comforted me through. We talked and he reminded me of several things:
  • We always opted out of testing because we would never terminate a pregnancy
  • I do not need to worry about "what ifs"
  • Our baby was healthy
  • We will get through this
I decided at that moment leaving his office, that we indeed would be just fine.  This baby was meant for our family in whatever form it took and we would welcome it just as we had the other babies.  A little retail therapy was called for and after buying a few cute outfits, I was ready to face what was headed our way.  Don't get me wrong, I had a billion questions and doubts, but I also felt a sense of calm that we would all be ok.

I called that afternoon and scheduled an appointment with the specialist.  It would be 2 weeks of waiting and googling and reading and researching.  The nasal bone was a "new" marker to look for in scans and it was often hard to detect.  I was sure that this was the case and that our follow-up would show a nasal bone and I could go back to worrying about my cervix as usual :)


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