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.

Saturday, September 29, 2012


Well...I think the name of the game from here on out is patience (which it honestly should be with kids anyway!).

  • I am waiting until after Monday to create a care plan with my new OB. (I got in in record time thanks to my previous history and the nuances associated with this little one!)  
  • I am waiting until week 28 when they can better visualize the baby's bowel to rule out Duodenal atresia. 
  • I am waiting to share with more people until we know a little bit more about baby's health status.
  • I am waiting to join the local group Up With Down and Gigi's Playhouse and start connecting with families that have been through all this
  • I am waiting to just snuggle this little squirt!

Then, once the little one is here, we will again be waiting to see how he/she really is.  When milestones will be reached, what support might be needed, what daily life will really look like.  Patience.

So, without any alternatives, I will wait.  I hit the 26 week mark today, which is incredible.  With Kate I was, unknowingly, beginning preterm labor.  With the boys, I was already on partial bedrest.  I am starting to get a bit more uncomfortable, mostly back pain because I keep toting Mr. Colton around, but we will get through.

We toured the new hospital last weekend and now I just need to get forms filled out "just in case."  

14 weeks or less--AAAGGGHHHH!!!

Friday, September 28, 2012

After the diagnosis

(Author's note: This is where the posts begin in "real time"-- I finally have a few moments to reflect!)
Time has continued to fly by since the official phone call from the genetic counselor.  Beyond all the regular chaos of having 3 children, we have been working to create a plan for baby's arrival.

Shortly after meeting with the GC, we both had a revelation that delivering our little one at the hospital we had the others would mean an association with the pediatric specialists in its system.  It is no surprise to anyone who has known us for awhile that we were less than thrilled with the level of care that Andy received after his EoE diagnosis years ago.  We did not agree with the way our pediatric GI "managed" his care (hence many trips to Cincinnati) and decided that we did not want our little one to be in his care either. 

We are very lucky to have 2 hospitals in the area that have very good NICUs, so we began the process of switching OBs and getting paperwork ready to deliver at another hospital.

In the meantime, I had yet another pregnancy first--failing the 1 hour glucose test.  I am not sure why I was surprised. Everything seems to be different this time around! So next week I will be doing my 3 hour glucose test--Yay! 

Also next up, I will be meeting with my potential new OB next week.  This is where the story continues to be blessed, in my opinion. I asked around on FB who had an OB in the health system I needed that they loved.  I got so many emails about 2 doctors in particular and was just so surprised that there were OB/GYNs out there that were so caring and compassionate.  I never really cared for my doc's bedside manner, but he had helped keep Andy and Colton cooking to full-term, so I just dealt with it.  I knew I was meant to switch for this extra special pregnancy and get real care.

It takes awhile to transfer records, apparently.  I am sure mine took up a small truck too :) When they finally were received I spoke to the nurse 3 times in a 20 minute timeframe as she gathered information and realized I would not be a "boring" pregnancy case.  We spoke on a Friday.  After talking with the doctor, she scheduled me for Monday. 

I am so excited to meet with them and discuss what the rest of my pregnancy will look like. (never thought I'd say that about an OB/GYN!)

Blessings in disguise, yet again!  Had we not gone through the journey with Andy, we would not have looked for alternative care this time around.  Hopefully this will be the right fit for our family!

Thursday, September 27, 2012

The wait.... and the call

8 days can be a flash or an eternity.  For me, it was a mix of both, somehow.

Speaking for myself, I already knew the answer we would be getting.  There were several signs sent our way that week that may have seemed coincidental, however, I believe it was all there to confirm my thoughts so that we could continue on this journey.

The hardest part of this time was how to deal with it.  I am a talker.  My husband, thankfully, understands this and was fabulous, especially during this wait.  We didn't really want to share what was going on with anyone, but did tell a few people.  I didn't want people to worry.  I didn't want to have them drawn into this craziness until we knew for sure.  I didn't want looks of pity or sympathy, depending on the outcome.  This was our baby, either way, and we never considered otherwise.

I believe that everything happens for a reason as a part of God's plan.   This baby was ours and if God intended us to go down a different path, He would take care of it. Several people knew about the my ultrasound and what we were going through, many by happenstance. I am so blessed that I had genuine ears to listen and support us.

I did have a small number of conversations that I drew back from quickly.  They were the conversations that I expected more of.  Those more of sympathy and sadness about the potential diagnosis.  About God's will not being this for children, or anyone.  These are the conversations I had dreaded.

I was not proud of how I just listened to those speaking in this way.  I wish I had been strong enough to assert my beliefs.  I wish I had reminded them of the will I believe God has for us all.  I wish I had walked away.

In retrospect, I have learned a valuable lesson here.  I will stand up for my kids and beliefs and develop a much thicker skin.  I have worked to advocate for my kids, but with this upcoming diagnosis, that will be tested, I'm sure.  What a powerful way for Him to remind me through other "believers."  I have so much to learn!

I spent many sleepless nights that week.  I found support online through Down Syndrome Pregnancy and Birth Boards.  I searched and searched about absent nasal bones.  The more I looked, the more confident I felt that our little one would have "designer" genes as one mom put it.  

September 12, 2012  4:00pm
The call came.  Exactly 8 days after drawing blood.  The genetic counselor asked whether I wanted to talk about the results in person or on the phone.  I had a sense of calm as I verified my information so we could talk over the phone.  I knew what I was about to hear and prolonging the inevitable was not going to change anything.  She explained that the test results were indeed positive for Trisomy 21. That would indicate our baby has Down syndrome with 99% probability.  She explained about the test and what this would mean for our pregnancy and life.  She offered a meeting to go over things, so we set a time for the following week.

As I got off the phone, I breathed out a breath I didn't realize I had been holding. I dialed Brian at work and the tears began.  Although, this time, they were much more of relief and of contentment of knowing, rather than fear or worry.  I am sure Brian loved to have this conversation on the phone, but I could not hold the information in. I had to let it out and let it be real.

The next day (I think) we called our moms to let them know as they had been patiently waiting with us.  Their love and responses were so crucial in the process of acceptance.  They were with us.  This was their family too, and they were more ready to meet the new little arrival.

I honestly wasn't sure how to fill the other people in that knew.  Their prayers and thoughts that week truly gave me the strength and patience I needed.  I just couldn't bear the thought, just yet, of having the conversation over and over.  I drafted this note, Brian edited it :), and I sent it out with the subject: update.  

We found out this week that our new little bundle of joy will likely join our family and teach us about what an extra chromosome means.  

Although we are opting for no further testing, we believe that our newest little person does have a diagnosis for Down syndrome.  Since our initial markers came up, I have really felt that this is God’s plan for us.  And, even though I am worried about health complications that may arise in the future, I am reminded that each of our children has brought a new set of challenges and worries and I don’t believe that will ever stop as long as I am a parent.

Next week we will meet with additional doctors and create a care plan for the rest of the pregnancy and support beyond. I feel you were brought into this part of our story for a reason.
I didn’t share this with many people, but I am truly grateful for the support and prayers for patience and strength over the past weeks (I imagine those might still be needed in the years to come!).   I am so appreciative to be able to share this with others as the joy builds to the little one’s welcome at the end of the year.

One thing I am really looking forward to is seeing the love and acceptance from our kids on baby’s birthday.  Unless some medical concerns arise over the next weeks, we do not plan to really share this news.
Our biggest concern is that our own kids (one in particular who is like her mother :) would worry so much about the baby for the rest of the pregnancy, and really there is nothing to worry about.

Brian and I are so excited to meet this new little one (once he/she is full term, of course!) and learn so much more about love and life and we thank you for the continued prayers for baby’s health and support on this journey!  I can’t wait to meet that little one!

“Now faith is being sure of what we hope for and certain of what we do not see.” Hebrews 11:1

The responses and calls I received were overwhelming and I was so grateful for those that were brought into this journey to support us.  The ride is just beginning!

Follow-up with the specialists...

Waiting is not a particularly strong suit of mine.  I am learning, ironically through my children, about patience, but man, it is HARD sometimes!

In the time between appointments I really had a sense of calm.  Although I was anxious to go, I was more looking forward to some answers and moving forward from there.

September 4, 2012

That day Brian was able to come and we walked in ready for anything.  The tech doing the ultrasound was also very detailed and talked us through much of what she was doing and seeing.  Parts and pieces were all still measuring on track, so we were pleased about that.  She took a looooooonnnnnnnggggggg time looking at the heart.  I kept giving Brian the "oh no!" look and we waited while she went to got get the doctor. We did get to see baby in 3D, too, which is always incredible to me!

When the doctor came in they spent some time together looking at the heart and discussing quietly what they did/did not see.  The tech was unsure whether there was tissue between two of the heart chambers, but the doctor believed that he did see tissue, so he said that was nothing to worry about. Phew!  We knew from our research that heart defects can also be more common in babies that have DS.

The doctor then showed us the areas of concern.  They also did not see a nasal bone, which was the strongest marker.  In addition, they saw a bit of fluid around the heart and a dilated kidney.  The last two markers, he said, would not be of any concern typically- in an ultrasound he wouldn't even mention them- however, they are both soft markers for DS too.  Together, the puzzle was coming together.

He let us know that these are just screenings.  An amnio would give us a definitive answer, but we were unwilling to take that risk and lose the baby.

Our other option was a blood test.  They were newer on the scene, but would tell us with 99% accuracy whether there were issues with the top 4 chromosal abnormalities. The test we were offered was called Verifi.  It was non-invasive, just a blood draw for me.  We would know results in 8 days.  We decided to go ahead with this test, so that I could have peace of mind for the remainder of the pregnancy.

8 days.

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 :)

Tuesday, September 18, 2012

Number 4 is on the way!

After the beauty of the positive pregnancy test, for me, the worry sets in. It is a constant barrage of questions in my mind:
  • Will I miscarry again?
  • Am I spotting?
  • Do my boobs hurt?
  • Will I make it to term?
  • What will my cervix do this time?
  • Will I get shots?
  • Will I be on bedrest? 
  • What about the other kiddos?
The list in endless, but in this pregnancy, started off much earlier.  As in the other pregnancies, I started spotting at 6 weeks.  I made an appointment and went in for an ultrasound.  The tech was quick and quiet and my heart sank.  As I waited to see the doctor, I knew I had not seen a heartbeat.  I googled in the waiting room what a 6 week ultrasound might look like.  Our little pics looked nothing like what I saw. I was sure of my dates, so I immediately thought the worst.  In meeting with the doc, she ordered a follow-up ultrasound in a week's time, but also did not give much hope.  Either my dates were off or this was a miscarriage.  I prepared for the worst.

That was a long week (and maybe a sign of things to come).  We went for the follow-up ultrasound expecting to see nearly the same thing.  However, this time I noticed something immediately-A HEARTBEAT!  It was unmistakable to my novice eye and we were so thrilled.  For now, the little one was right on track and beginning to grow into our newest baby.  We crafted a plan of attack beginning at week 15 with shots and a few cervical checks along the way.  I couldn't wait to see more pics of the little one soon.