Amniocentesis Nightmare

As I have been cheerfully updating my blog with the latest baby news personally Rob and I have been going through an extremely difficult time. On March 9th we excitedly drove to the prenatal specialist to find out our baby's sex. Here we got the amazing news we would be having a GIRL! I was overwhelmed with joy and wanted to call every person I knew to say not only I was pregnant but I was having a girl too.

XX= girl

The next news we received felt like I was hit by a train. The ultrasound revealed two abnormalities: a hyperechogenic bowel and a celiac plexus block in the brain. Obviously hearing anything is "abnormal" is horrible and something we were not mentally prepared for. I instantly started crying and we asked what those things are an indicator of. The doctor told us either down syndrome, infection (which often causes mental retardation) or cystic fibrosis. WHAT?!?! I couldn't even comprehend the words she was speaking my head was spinning as I laid on the table in disbelief. How could this be possible? Rob who is always calm, cool and collected looked equally as stunned and quietly whispered everything will be OK. I did not feel like anything would be OK. 

The doctor strongly urged us to get an amniocentesis right then and there. I felt like everything was happening too fast. Especially because we were scheduled to board a red eye that night and fly to Florida for a week long Caribbean cruise. Rob and I decided we needed some time to choose if that was appropriate for us. The amniocentesis is 99% accurate at diagnosing the above potential complications however there is a small change of miscarriage associated with this invasive procedure. The "amnio" procedure is a long needle that the doctor pushes through the mother's stomach into the baby's amniotic sac and collects the fluid (cells) to culture. At the lab the cells are grown and any abnormalities are revealed through the baby's chromosome pattern. 

Just a few minutes after hearing the news we were instructed we would need to immediately speak to a genetic counselor to explain the odds and statistics associated with our baby's abnormal findings. It was here that my heart really broke. The celiac plexus block in the brain was less of a concern however it becomes alarming in conjunction with another abnormality. The hyperechogenic bowel in itself is very alarming and combined with another "marker" is cause for serious, serious concern. The odds were as follows; 1 in 50 chance of down syndrome, 1 in 33 of cystic fibrosis and 1 in 33 of viral infection. We felt feeling like there was no chance of having a healthy baby.

The week on the cruise felt like the longest of my life. It was suppose to be a relaxing vacation with Rob and my family but the thoughts of having a poor baby girl with severe abnormalities would not leave my mind. I felt like healthy children were everywhere and it broke my heart to think mine would not be like them. I was still severely torn about getting the amniocentesis because of the miscarriage complication. 

On March 20th we made the difficult decision to move forward with the amnio. The odds of miscarriage seemed low enough to outweigh the anxiety that we would feel over the next four months. Plus we would need to make additional arrangements for a special needs child and mentally prepare how to deal with this challenge. It was especially terrifying for me as I would have to go to the procedure alone because Rob was out of town for work and time was of the essence before the baby grew too big. At 21 weeks we were approaching the time where they stop doing the amnios because the miscarriage rate becomes too high.

After the amnio I was such a wreck I could barely think my head felt like it was in a fog and I couldn't see straight. I was in such a bad place Rob came home early from his work trip to take care of me. I kept thinking what if I do have a miscarriage and then they tell us everything was normal I would never be able to forgive myself. There are a number of signs leading toward a miscarriage- bleeding, amnio fluid leakage, severe cramping, fever. After 3-4 if you do not experience any of these you are in the clear. 

The band-aid is where the needle was stuck in.

Feeling very sad/helpless.

The next part was the worst: waiting. We would need to wait 7-10 days before we heard results on the infection and down syndrome. Then an additional 4 weeks to wait for the cystic fibrosis. This time period seemed like an eternity with even the smallest thing making me burst into tears. Rob was so amazing through it all assuring me that no matter what would happen we would love the baby the same and it would be a blessing one way or the other. As we prayed and the days passed I started to feel more confident, regardless of the odds everything would be OK.

On March 28th we got the AMAZING news the baby had 46 chromosomes (down syndrome is 3 # 21 chromosomes) and there was no sign of infection. I was in the grocery store when I got the call and literally dropped my basket and just started crying tears of joy. We would still need to wait to hear about the cystic fibrosis. Now my mind shifted to this and how I would care for the baby's failing lungs and pancreas, knowing she would only have a life expectancy of 30-40 years best case scenario. In order to have a cystic fibrosis child both parents need to be carriers (this was another test we were waiting to hear back on- blood work from Rob and I). If we were both positive there is a 1 in 4 chance any subsequent children we have would also be affected. Coming from a family of five children it was so painful to think if positive we would most likely not have other children.

She's smiling saying "Don't worry, mom  I'm OK!"
Our sweet little girl, already love her more than words! 
Finally on April 11th we got the last AMAZING news the baby was negative for cystic fibrosis as well! We had exhausted every means of testing for known abnormalities related to the abnormal findings. SHE IS GOING TO BE HEALTHY!!!! Some babies show the signs our daughter has and it means nothing. It is such a huge relief to know our little girl will be OK. We can again be excited about the pregnancy and instead of being in despair we can enjoy this time.

Spooky face shot of our devil child ALREADY torturing us from the womb! 

We feel so blessed and lucky to have good news. To celebrate I bought her first gift (outside of cloths) and set it up to surprise Rob when he came home from work. Of course he thought it was the cutest thing ever! 

A few days later the cutest thing ever really did happen. We heard Drew giggling from the other room and found him 'pretending to be a baby".....

 I can't wait until our little girl baby is in that spot laughing!!

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