I've neglected my blog for 10 long months. i have so much to say. So much has happened since the last time i posted. For starters, Gianna is officially 2 and half. We've moved out of our little single and purchased a house. We recently found out I'm expecting baby #2! However, at my 12 week ultrasound (July 25th) i was given the news that our baby might be born with a chromosome abnormality or heart defect. This was due to a high NT (nuchal Translucency) reading of 5.5mm. The normal reading needs to be under 2mm. which meant that 5.5 wasn't considered borderline or high. it was "extremely high".
After i was initially told i felt like the entire weight of the world was on my shoulder. I was immediately referred to a genetic counselor who explained all the doom and gloom of what could possibly be wrong with our baby. The first thing i was told was that a high NT reading is usually a marker for a baby with down syndrome or other chromosomal abnormality. She explained a few other syndromes (Trisomy 13, Edwards, noonan, turners). All of this was new to me. I sat in that office in utter shock and disbelief. i couldn't believe that in the blink of an eye my pregnancy had gone from normal to high risk. I was given options of what tests i could do. i was told that even if test came back normal for chromosome abnormalities then the baby would most likely have a heart or neuro tube defect or something wrong with the organs. before walking out of that office i asked the GC what the chances that this could all be an error were. she replied "20%". which meant i had an 80% chance that my baby would have some sort of health issue. I was given a 1 in 5 chance for down syndromes and 80% chance for other defects.
I called my husband and broke the new to him and i immediately lost it. then I called my mom and cried some more. I went on line and researched everything i could and what i found scared me. Things I've never heard of. quality of life, life expectancy, spina bifida, skeletal dysplasia, heart defects..... i opted to have a CVS done. The CVS would determine if the baby had all 46 chromosomes and rule out most chromosome abnormalities IF the results came back normal. i couldn't go on without knowing what, if anything was wrong with our baby. I wanted to prepare myself. The CVS was scheduled on my 30th birthday (July 30th). My husband, who i can't say enough good things about sat with me in that office as we waited to be called in. We met with a genetic counselor again and once again she explained everything that could be wrong. The procedure was uncomfortable but bearable. it took about 10 minutes. We were told that we would have results in about a week. The next few days were the longest ones ever. I spend the rest of the day on bed rest. The next day I went into work and tried keeping my mind off of things. In the following days my husband and i talked about the possibility of having a baby with a disability. Our fear was no longer in the disability itself but in our ability to be able to raise a child that could have a mild or severe disability. What scared us the most and made us even more sad was knowing that 1. if it was something severe, the life expectancy would be very short and we'd have to endure the loss of our child. 2. that one day Manny and/or me would pass away and we'd leave a child with a disability to be cared for by someone else. We knew that no one, no matter who it was would love and care for our child the way we would.
The following week i got the call from the genetic counselor. I answered and she said "i have some good news! The baby has all 46 chromosomes and if you'd like to know the sex we can tell you right away?" Yes I'd like to know.... "you're having a boy!" getting that news felt like some of the weight had been lifted off my shoulders. I was relieved and so grateful. Hurdle #1 had been overcome. In the weeks that have followed i have had additional test done. they've ruled out most chromosome abnormalities now as well as spina bifida. Our next hurdle is the anatomy scan and fetal echo cardiogram. we're putting our faith in God that he is working his magic and making sure our baby is born healthy. We have a strong support system and lot of prayers from friends and family.
