Trying to Make Sense of It All

Thank you for all you kind words. Reading your comments today has been so comforting.

I had an incredibly difficult evening and night. I could hardly eat dinner and spent hours googling until 2am, so I can better understand this condition.

Trisome 18 mosaicism is very rare. So, rare that there is very little on the Internet about it.  It is an aberration and is not hereditary.  This is not a very common mosaic but has the highest incidence of being reflected in the fetal tissue, which is 23%, based on abnormal CVS results.

After getting no sleep and eating hadly anything in the morning, I called the Genetic Counselor today. I had had time to let it sink in and I had done enough research to have some questions.

I have to say that, if nothing else, I feel that baby and I are in very good hands with this downtown "big city" clinic. They are so awesome and on top of things. They have gathered all the information from the other MFM clinic, and by 11am she had already placed a call to my OB.

The counselor had all the time to talk to me. I started off practically in tears and she was really sweet while I tried to control my emotions.

Basically she is cautiously optimistic about the amnio results simply because:
(a) Only 2 cells of 28 cells in the CVS were found with T-18, so only 7%
(b) My NT scan and the blood work from Part 1 of the Sequential Scan are fine. In fact it gives the baby a 1/10,000 chance of T-18
(c) The Dr (bless his heart) spend some time this morning looking over the U/S scans they had taken on 10/5 and he is not seeing anything abnormal or any markers

So interestingly, if I had not volunteered to have the CVS, nothing so far would indicate any issue with the baby.

Maybe its a good thing I did it, or, did I just screw myself over -- not sure :-(

Of course it all depends on what they find in the amnio. They will request that instead of 15 cells being cultured which is the norm, that they take a larger sample just so we can be sure. She said that given the CVS findings the lab will be super diligent when looking at the cells to rule out any issues.  As I said, I feel I am in very professional hands.

Of course only 1% of women who get the CVS test get mosaic results -- guess I was the unlucky one.

We decided not to bother with early results for amnio, since we know that the CVS early results were just fine  for 21, 18 and 15 but the final results showed a very different picture. In case you are wondering, the early CVS result are the outside cells of the villa that grow quickly. The slower ones are the inside ones which more closely match the fetal cells hence why they want the amnio.

So its a crapshoot either way. It could be or it could not -- and I can only wait.

I also mentioned the Materniti21 test (thanks, anonymous!) and oddly the Dr himself had mentioned to the GC that he would like me to take it merely out of academic reasons to see what it would have come back with.

She said I could talk to him about it. At this point why not throw everything at this problem.

So, it was a somewhat comforting call.  Of course nothing is 100% which is the worst.  I had done the CVS precisely to get a black/white answer - this mosiac "maybe" is what is the hellish part.

I feel optimistic right now, but I have been a wreck all day.

And I still cannot believe the absolutely rotten bad luck.

After all that DE selection, fertilization, embryo development, craziness and finally getting a BFP and the pregnancy progressing so well so far at almost 15 weeks.  It is a kick in the stomach.

One thing is for sure this news has sucked the joy out of the pregnancy.

Even if the amnio results are fine, I am still in that hellish place of worrying about every U/S going forward and never really knowing for sure until the baby is born and tested.

I know life is not fair.

Its been unfair to so many of us in so many different ways.

I have to admit there were times last night in my state of anxiety when I wished I gotten a BFN and not even gotten pregnant.

I know it sounds horrible but its my dismay and fear talking. I am terrified of what my little girl will have to face in her future.

I am normally not a despondent person by nature, but this has knocked the winds out of my sails.

Sorry for the depressing post. My next few will likely be just as dark, so feel free to skip. It helps me to put it out there.

Ironically this past weekend was the first time I felt energetic and normal. I went shopping with my Mom to buy some maternity clothes (pants, jeans) and we ate lunch out. The first time in 15 weeks I felt good enough to go to a restaurant - sigh!

I did take some time to go fora  walk after I spoke with the GC. I needed that air and sun. Its weird that everything is the same and familiar, but my life is at such crossroads.