Saturday, July 18, 2020

Diagnosis

One week. Turned into 11 days. We waited 11 days for our test results to come back. 
My doctor called me around 4 o’clock with our test results. She asked if I wanted to get my husband on the phone, and I did. 
She told us that she got our test results back, and they came back positive for trisomy 18.
My worst fears, came true and were right in front of me. She went on to tell us that with these tests, 80% of them come back with false positives, but with the condition our baby already has with a cystic hygroma and the size of it, she did not believe that was our case.
All I could do was cry. 
I had read about different possible conditions our baby could have during researching cystic hygroma’s, trisomy 18 being one of them, and I knew that our prognosis would not be good. 
I asked her what the survival expectancy was, knowing the answer but clinging onto the hope that I had been misinformed. She told me that most often babies are still born, miscarry, or make it to term and maybe survive a few hours after birth.
My heart broke. 
How did this happen? 

She asked that we come in the next day to discuss how we move forward. 
My heart was broken. My poor baby. 
My heart hurt. It hurt for my kids, who were so excited to have another baby that this was all they had talked about. It hurt for my baby, who I felt that I couldn’t help. It hurt for my husband, how could this happen to us? 
When you look up trisomy 18, you’ll find that it is very rare. It is also known as Edward’s Syndrome. It is a condition that causes severe developmental delays due to an extra chromosome 18. There are fewer than 20,000 cases in the U.S. a year. My doctor told us that she sees maybe 1 case every other year if that. Symptoms include low birth weight, small abnormally shaped head, and birth defects in organs that are often life threatening. How did our baby fall into that category, how did this happen? 

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