We are expecting a baby girl in April!
We are so excited to hold our precious little girl. We know she will be just perfect but the pregnancy has been anything but...lets start from the beginning...
We were so excited (and a little surprised too!) to find out that we
were pregnant!
I had been really tired so while I was at work, my
friend Casie encouraged me to take a pregnancy test. I tried to convince her that I was not pregnant but I took the test anyway.
 |
| The hubs patiently waited for the timer to go off so that we could look at the pregnancy test! |
One positive test was not
enough for me...four tests later, it was confirmed...we were having a
baby! I was beside myself with excitement! I was a mommy!
We had our first appointment with our OB at 8 weeks and everything looked perfect! We told our family our exciting news over Labor Day Weekend. To say they were excited would be an understatement! My mom was squealing, my grandma started crying, and the hub's momma was is disbelief! Our baby was instantly loved!
At 12 weeks, we went back to our OB for our next checkup. Our OB was attempting to find the baby's heart tones with the Doppler but the baby was not cooperating. To ease our anxiety, the OB decided that we would just get a quick ultrasound to make sure all was well.
The ultrasound tech instantly found the heart tones and we heard our baby's little heart beating away at 164 beats per minute. We thought we were good to go, but the tech said she was going to get the OB. They both stared at the ultrasound monitor with concerned looks on their faces. Finally, the OB said that she found something that she thought was "concerning" so she wanted to send us to see a perinatologist. I bawled. She made lots of calls and they were nice enough to get us in to see the perinatologist immediately. The perinatologist did another ultrasound and she told us that it appears that our baby has a cystic hygroma.
We were overwhelmed, confused, sad, and scared.
We met with a genetics counselor and she explained what a hygroma was and what it could possibly mean for our baby. We faced the potential of a miscarriage, chromosome abnormality, genetic mutation, or heart defect. We had a chorionic villus sampling (CVS) to look at the baby's chromosomes to see what we were facing.
48 hours later, the genetics counselor called us and told us that the baby's chromosomes were normal and that we were having a girl. Normal chromosomes meant that the hygroma was not a result of a chromosome abnormality like Down's Syndrome, Turner Syndrome, or Trisomy 18. We learned that just because her chromosome were all normal didn't rule out the possibility of a heart defect or a genetic mutation. We also learned that the risk for miscarriage is very high in babies with a hygroma. We were given all our options but we were so confused. The unknown is so overwhelming.
The next ultrasound was scheduled at 18 weeks so for the next 6 weeks we tried our best to keep going. There were lots of tears and sleepless nights. As a pediatric nurse you see and know too much to stay sane when you find out that something could be wrong with your child.
We had our followup appointment with the perinatologist on Thursday (11.15.12). The plan was to look at the hygroma (to determine if it was getting bigger or smaller and if any hydrops had developed) and to look at the structure of the heart. The tech measured every single thing on our baby girl. The ultrasound lasted an hour and a half! I laid there for an hour and a half watching her click and zoom on the ultrasound while simply nodding at the machine. When she finished she said, "it looks like the hygroma has resolved and the baby's heart looks structurally normal." I waited for the "but" and sure enough that was the next thing that came out of her mouth, "but there are few things that I think are concerning so I need to get the perinatologist."
I immediately started crying.
The perinatologist came in an did his own ultrasound while mumbling to the machine. I heard him drop a couple of terms. I could not keep quiet any longer so I started the string of questions. He said that he was concerned about a possible Dandy Walker Variant on her cerebellum. Again, as a peds nurse when I hear Dandy Walker I immediately get an image in my head of a patient that I once took care of. He assured us that she does not have Dandy Walker Syndrome but could potentially have a variant. He said that he can't confirm that it is there because at some angles it looks normal. I asked what a variant would mean and he said worst case would be slight development and motor function delay but that sometimes a variant doesn't even present with symptoms.
The other thing that he mentioned was that she has a bilateral cleft lip. Twelve weeks ago if you would have told me my baby would have a bilateral cleft lip, I probably would have been crushed but given what could have been with her, I will take a cleft lip. It is something that is surgically repaired and she will be set. That, I can handle.
Because of the possible variant and the history of the hygroma, I will have an MRI at 24 weeks to better visualize her brain. We will also have an ECHO at 24 weeks to confirm that she does not have any minor heart defects. Unfortunately we can't rule out any genetic mutations yet but they don't have any reason to believe at this point that there is a mutation.
I am sure that I will never stop worrying until I can see her for myself but the baby girl got her first outfit this week, we finally started the name conversation, and I looked into starting her registry. It is time to prepare!
I am going to be a momma to a very precious baby girl.
She is so very loved (yet grounded for all the stress that she has caused this far).
