Tuesday, October 7, 2014

When you discover what hell really is

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. 


9 comments:

  1. I'm so, so sorry. Am praying for the best possible outcome.

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  2. My heart is breaking for you :(
    Praying that your baby does not have a chromosome abnormality. An omphalocele can be treated with surgery soon after birth to put the intestine back into the baby's belly.

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    1. Thank you for your prayers. Unfortunately, the omphalocele we are looking at is quite large, practically the size of her torso, and encompassing more organs than her intestines. This would be a very difficult case with far clear outcomes than the intestinal surgery, and hinges on so many factors (her lung size, whether there are other defects).

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  3. Such devastating news! But I still believe in miracles, and keep you and your baby in my prayers. Sending you love and hugs.

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    1. Thank you for your prayers and hugs Kathi.

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  4. Oh my G-D- my heart is literally breaking with this news- while I don't know you in person, I've read your posts for months & this is just so, so, so unjust... I'm sending you & baby girl loads of healing T&P from SF, CA- huge, hugs....

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  5. Thank you so much for the hugs. I'd like to think that there's some lesson for me to learn from all of this when I emerge at the other side of it, but right now... it's impossible to fathom.

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  6. sending hugs, just heartsick for you and family seeing this today. i'll call you.

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