Hell is learning that your one in ten thousand risk for a serious genetic disorder is ultimately meaningless because your beautiful baby girl - who is waving her arms at you and bouncing around on your 12 week ultrasound scan - is actually suffering from an incomprehensible, possibly fatal, deformity.
Welcome to the blogspot where lightening strikes multiple times. Where after three miscarriages, including a rare partial molar pregnancy, you should never breathe easily. You should never make plans to clean the office out to make room for a nursery. You should never give in and buy that cute striped maternity dress that was on sale at Target for 17 bucks.
My baby has a giant omphalocele. Forgive my not linking the word to a frightening website sponsored by Children's Hospital of Boston or Cincinnati.
Should you choose to google it yourself, you will learn it is an incredibly rare (1:5000 if "small", 1:10,000 if "large") deformity, where the baby's organs are growing outside of her abdominal wall. In our case, the doctor believes that at a minimum, the omphalocele is encompassing her stomach and bowels. When you google this, you will learn that it can be surgically corrected with some decent outcomes providing that there are no other abnormalities or chromosomal abnormalities. However, the larger it is the poorer the prognosis is, and the prognosis is very poor if accompanied with an additional diagnosis such as Trisomy 18.
I was immediately referred to more genetic counseling, as well as a CVS, which was performed today. The CVS was the least painful procedure of my day, crampy and frightening and uncomfortable as it was. It was concrete. Insert the speculum. Insert the catheter. Insert the needle. Extract my baby's sample, enough to send off to two different labs. The first lab will be a rapid result that confirms or rules out T13, T18 or T21. One to two weeks from now I will learn the results of the second sample, sent for a microarray to test for every genetic disorder under the sun.
Here are the not-so-comforting next steps, in a flow chart sort of form.
1. Rapid CVS results. If positive for a trisomy, we are looking at an essentially fatal diagnosis. If negative, proceed to #2.
2. Microarray. See above. If negative, we get another scan. And mull the fact that there is a chance that there is a defect that can't be detected by microarray.
3. Anatomy scan. This is where the world becomes even more murky and awful. The extent of the severity of this abnormality can't be fully determined until the baby is larger. There is a large chance that she could have additional congenital heart problems that would go undetectable until a fetal echo-cardiogram is possible, at 20 weeks. We would need to meet a pediatric surgeon to tell us what we are really dealing
with. The outcome range is anything from a baby that spends months in
the NICU and has difficulties eating and breathing, to a child that requires a
lifetime on a ventilator. Babies with this defect often have small,
immature lungs, and are at huge risk for grave pulmonary problems. Not
to mention sepsis. And inability to thrive because they can't eat.
20 weeks by the way is our hospital's limit for termination for poor prognosis.
My brain is fuzzy right now. I can't remember whether I ever put down on this blog that my prayer throughout this pregnancy was specifically, "God/Universe/Insert big picture: Give me the strength to handle whatever comes my way." I would like to add an addendum to this prayer: please universe, if you have any fucking mercy at all, steer me to answers sooner rather than later.