96 days and counting...

It has been a rough couple of weeks. I have been tossing and turning at night, certain my insurance company must have screwed something up (or screwed me over) in the coverage of this exome from Baylor College of Medicine.

After a day of breakdown (crying, sobbing, really trying to live in my bed), I got the call I have been waiting for — the exome process has begun.

My genetic counselor said the test began on Dec. 19. It should be finished on or about April 19 (which is 96 days from right now, in case you are counting with me).

I felt like I might have been able to breathe for the first time in two months if I hadn’t been in the middle of a panic attack.

April 19!

We also discussed target testing for thalassemia, because the more I read about it, the more it makes sense in my case. We discussed single gene disorders and possible outcomes. We discussed my grief therapy.

Now for the genetic “BUT,” because there is always a “but” in the middle of every one of these genetic conversations.

“I’m hopeful for you,” the counselor said. “I just really hope we can come to a conclusion for you and your family. BUT REMEMBER that there are is a very small chance that this exome could come back with nothing.”

Wait, what?

This is IT. This is THE TEST. “Cutting edge technology,” the doctors tell me. If the exome can’t find it, then it can’t be found.

What then?

I have long understood the implications this test will have on my life. I am prepared for total depression when the results come back, almost no matter what the results reveal.

If the problem is genetic - dominant, recessive or x-linked, my Hubby will want to do IVF with PGD, which I don’t want to do. He will want to make certain, very, very certain, that we will have a healthy baby.

Let’s say it comes back clean. No problems. Do we go forth and procreate knowing that there is a chance that this latent genetic mutation could strike again? There will be no IVF with PGD because there will be nothing to look for — all the tests always come back with a normal karotype. All the amnios and CVS’s will be moot.
So that means we do what we have done before with zero success — we wait until 11 weeks for the NT scan and then have an early anatomy scan at 14 or 15 weeks.

It is a leap of faith we have fallen with twice before.

Now I guess all I can do is wait, which is the hardest thing to do. I can’t wait for a time in my life when I don’t have to think the word “exome” every day.