The beginning of our current little mister

When you become pregnant after loosing a baby, whether it be from a miscarriage, still birth, neonatal loss, or infant loss, they call the baby that follows a rainbow baby.  Why a “rainbow” baby you ask?  Because a beautiful rainbow always follows a dark storm.

We became pregnant with little mister at the end of June, early July of 2016.  We did a frozen embryo transfer in June when we transferred one embryo.  We consider ourselves beyond lucky to have had our transfer work,  and to become pregnant with another sweet little baby.

Things started out very well in the beginning with the pregnancy.  The baby was growing like it should be, I was sick which always means good things to me, we were happy.  My regular OB wanted to see me sooner than normal just to make sure that we watched this pregnancy very closely.  I started going to the perinatologists (MFM) who would follow me closely and intervene if needed at 12 weeks.  I was scheduled to see them every two weeks as they would measure my cervix length and make sure that it was holding strong and I wouldn’t need a cerclage. I started taking a once a week shot of progesterone to help calm the uterus and help prevent preterm labor.

At 16 weeks, I started to have anatomy scans when I went to MFM every four weeks.(I was going in for a cervical length scan every two weeks, and they did an anatomy scan every 4) We discovered at this appointment that we were blessed to be expecting another little boy! As the doctor told me, apparently we are boy makers! Also on the ultrasound, it showed that our little babe had renal pyelectasis.  Basically, his kidneys were a little bit bigger than they like to see, but the doctor made sure to let me know that this is very common in boys, as they tend to not pee out all that is in there.  She said we would monitor it and make sure that it didn’t become an issue. At this time, the MFM doctor also asked me if I had my quad marker screen drawn yet. I told her that I had, but I didn’t know the results.  She left to look up the results and told me she would be back.

When she returned to the room, she told me that my results had come back positive, and they were indicating towards trisomy 21, commonly known as down syndrome. She said this made our odds of our baby having down syndrome 1 in 48.  She also said that with the findings of the dilated kidneys, this was a soft marker for down syndrome. She urged me to have further genetic testing completed, and gave me two options for this. 1. have an amniocentesis done or 2. have a cell free DNA lab test drawn.  The amniocentesis came with a risk of pregnancy loss, so it was thrown out the window as soon as I heard that.  I opted for the blood test on my part. The nurse came in, filled out the lab packet for the test, and I went to the out patient lab to have the test drawn. The results were supposed to take about a week before we heard anything.  After a week had gone by, I hadn’t heard anything.  So, I called MFM to find out what was going on.  Come to find out, my blood sample had broken in the mail, and I needed to have it redrawn.  I’m glad I called to follow up! I went in that day and had the test redrawn, and four days later, we had the results back.

It was the week of Thanksgiving, and I was at my parents house when my phone rang. I answered it, and it was the genetic counselor for our MFM clinic.  She told me that my results had come back, and that she needed to talk to me about them.  Never really a positive happy thing to hear, but I had been having this little feeling inside that I knew that’s how my phone call would end up.

The results of our cell free DNA test had come back positive for trisomy 21.  This meant that we were now looking at a 98% chance that our baby would have trisomy 21, down syndrome. The genetic counselor then proceeded to say that with the kidneys that were dilated, and the recent findings of slightly elevated ventricles in his brain, they were pretty positive that it was more of a 100% chance that we were looking at down syndrome. She gave me some resources, and scheduled for us to have a fetal echo-cardiogram completed to get a more in depth look at his heart.

Alex and I took this information in and tried our best to accept it.  Alex struggled a little at first with the loss of dreams he had.  (I’ll have him touch on this more in the future when I ask him to write about it!) My mind went to worrying about what it meant for the future.  Luckily, we both have very supportive families that we knew would help us get through this challenge!

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(His 3D ultrasound picture at 20 weeks)

 

 

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