Rolling the dice.

I have a normal karyotype; though we've known this since January.

Awaiting the fetal microarray.  Flasks are already for exome sequencing, so DH and I have to go to Columbia and sign off on more paperwork and have more blood drawn.

And, while talking to my genetic counselor, she received a fax.

DH has a normal karyotype.  Honestly, I'm shocked.  I know on one level this should make me happy because dealing with a translocation isn't really fun; but, it comes with a set path forward.  We would have known our path forward.  It would have been rocky, uncomfortable, and long; but we would have had a set path.

Unless the microarray or exome sequencing shows something major, it looks like we are going to end up rolling the dice again.

I can't help but feel like even when we get a BFP, I'm still going to roll snake eyes.

Initial reaction 24 hours post amnio

So, the 24 hours results are back....

1. Chromosomally male - scrotum may not have dropped or differentiated itself at this point.
2. Negative for trisomy 13, 18 and 21 - full karyotype will be in by next Tuesday
3. Amniotic AFP level should be in on Thursday, but other information will be trickling in daily.

Appointments at Columbia are Friday at 8am - ultrasound, fetal echo and genetic counseling.  The genetic counseling is really for DH as he still needs to be karyotyped, mine was done in January and is normal. 

If Columbia confirms Dandy-Walker we will *sigh* be terminating next Thursday or Friday.  I don't advise researching Dandy-Walker; it's terrible.  It's estimated prevalence is 1:~30,000 live births, and if it is completely random and LO is genetically normal, I truly hope that lightening doesn't strike twice.  We will be doing exome sequencing of the fetus to add to the total amount of genetic information that is available for DW, and to see if we can pinpoint a genetic cause.  Hopefully one day that information will help other parents.  After all we have been through between previous pregnancies and this one, we are strongly considering IVF with genetic screening next time around.  My peri feels that it's a very realistic plan that she endorses, and will work with setting me up with a top RE.

It will obviously take us a long time to heal from this, and I think my DH is having a much more difficult time coming to terms with it.  What hurts the most is that there is no way to heal this pain.  There is no way to fix it.  There is literally no way to put the pieces of hope and dreams back together.  There's nothing to stop the pain, and there is nothing that will make future pregnancies any easier.  They already feel tainted.  I feel like we lost our innocence through all the miscarriages, and now, with this pregnancy, I'm left with anger.  I'm mourning a life that will never truly come to be, yet was already full of so much love.  I'm mourning DH and I's sense of innocence, our faith that things will be okay.  In the end we will come to terms with this and accept the fate, but it will never, ever be okay.

Once this is over DH and I are going to take a long trip to Italy and do our best to heal together.  I will drink copious amounts of espresso, red wine and questionable cheeses. We are likely going to spend Christmas abroad because it's going to be too difficult to be here on my EDD and plan to move (though we will stay in our current area) because it's time for a change of scenery. I'm going to have olive trees planted in our parents backyards, and hope that they grow big and strong.  We will find peace, even though it will be at the end of a very long road.

4 years ago I lost my best friend to cystic fibrosis.  if there is a heaven, I hope she finds my little man and takes him under her wing.