At 14 weeks, I went into the doctor for a check up due to pain I was having. It was a constant and unbearable pain that I had never experienced before. It was so painful, it scared me that something was wrong. I was told to go to ultrasound when I got there, and that another doctor in the practice would see me since my doctor was out of the office on Tuesday's.
I had my ultrasound, and saw another doctor. She told me that I had a cyst that more than likely caused the pain I was having, and it would subside and we would continue to monitor it.
Two days later, I saw my primary OB. I explained what happened to me, how I felt, and that it did subside after a while and I was feeling ok. She checked the baby’s heartbeat, then said we had a few things we needed to discuss.
She went on to tell me that they did find abnormalities with my baby in my ultrasound, and she was concerned.
She told me that the baby had fluid behind the neck, called cystic hygroma. All I could do, was nod my head and say “okay.” I didn’t fully understand what was wrong with my baby, or how this happened.
She went on to tell me that it’s pretty rare for a baby to develop a cystic hygroma, and when they do, it often indicates Down syndrome.
It was a lot to take in. More than I expected at my 14 week check up. I didn’t know what to say, or what to ask at this point, all I could do was try to fight back tears. She asked me how I felt about doing genetic testing.
Flashback to my previous pregnancies. Matt and I discussed genetic testing years ago, because at every first doctor appointment for pregnancy, they ask if you want to do genetic testing. Our answer has always been no. We have always felt that if we had a baby that had special needs, it would not change anything. We would love it the same. We would be excited to have a baby, and it wouldn’t matter what care or needs the baby had. It was our baby and we love them no matter what.
I asked her what she thought I should do, and she said that with this condition the baby has, she would suggest that I move forward and do genetic testing. She told me that if the baby does have Down syndrome with this condition, it would help us to get ahead of it and know how to move forward with the best interest for the baby’s care.
I agreed to move forward with the testing. Scared, worried, and confused. I had to attend doctor appointments alone due to covid.
I had some paperwork I had to complete, and then she sent me to the lab for the testing.
I waited a while and finally was called back for bloodwork. I did the bloodwork, and they told me it would be ready in one week.
I walked to the car, and I finally got to cry. Still, at this point, I did not have full knowledge of what was wrong with our baby. I googled. And googled more. And cried. And cried more.
I learned that fetal cystic hygroma’s occurs in 1 of 800 pregnancies, and 1 of 8,000 live births. The overall survival rate for fetal cystic hygroma is 10%. I thought, how is this possible and how did this happen to our baby? What could I have done to prevent this? How was our baby doing perfectly fine six weeks ago, and we go from that to this?
I was so sad and so scared. I was sad that I couldn’t do anything to help our baby, and I was sad that the baby could have something wrong and we didn’t know what it was or how to help. I was scared. I was scared for our baby’s life. I was scared of the unknown.
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