Like Mother, Like . . . .

I know I've been absent for a while. Too long. In this case, no news is a combo of good news and horrible morning sickness.

Let's start with the morning sickness. Every day. Nausea. Burping, oh dear god the burping. Uncontrollable retching. Vomiting. The only time I didn't feel like death was when I was asleep. You'd think that's good, right? Because most pregnant women get really tired in the first trimester. During my first pregnancy, I got the best sleep of my life until it ended at 10 weeks. My head would hit the pillow, any time of day, and I'd be out.

Now? Nope. No sleep. Why, you ask? Because I've managed to develop a case of pregnancy-induced Graves Disease. That means that my thyroid has gone hyperactive. My heart is constantly racing and feels like it's pounding in my chest. My ability to sleep past 2 am is minuscule, and I have trouble falling asleep. Add those symptoms to horrific nausea and you get a really special brand of misery. It kept me off the computer unless I needed to be there, hence the radio silence.

I asked my OB for something for the nausea. At that point, I was down 7 pounds from my starting weight, which I told her. Her response? "Yes, it's worse with twins. Try eating crackers." It was a 'let them eat cake' moment if ever one existed. Needless to say, I'll be seeing other OBs in the group from here on out.

But that takes us to the good news portion. Two weeks ago, I went to the U of M's MFM center for CVS testing on the babies. After that, DH and I held our breaths and waited for the next shoe to drop. It never did! The FISH results revealed two healthy girls! We are over the moon excited.

I got the babies' full karyotypes back yesterday. The genetic counselor was great and told me everyone was healthy. Then she told me that Baby A is a totally normal 46xx, while Baby B is a 46xx with a pericentric inversion of chromosome 9. I guess there's no denying that one is mine!

I am madly in love and desperately hopeful that I'll start feeling human again soon.

That's Me!

Tomorrow will be my next monitoring appointment. I'm worried. Yesterday I felt like something was going on in both ovaries. Now everything just feels normal. There are no twinges or pains. I'm worried that somehow a single dominant follicle took over, on the left side that might be blocked, and there'll be nothing on the right side that can be fertilized. I'm worried my lining has tanked for some reason. I'm worried that there's no possible way I can have two good appointments in a row. I'm worried there's no chance of this working. Blah.

Also, after 14 days of crinone, followed by seven days of vaginal estrace, my lady bits are feeling raw. I'm uncomfortable, bordering on hurting. I'm not entirely sure how I'm supposed to make sex happen with this rawness getting worse, but I guess that's just how this goes.

In slightly cooler news, I was able to get the full report on my karyotype from the lab. It actually includes pictures of my chromosomes, shown below. You can see that 9 has one inversion. Pretty cool, if you ask me.

We're still waiting on DH's lab work. Although the turnaround time is 10 business days for karyotyping, LabCorp says that "due to the holiday on 4th, it hasn't been 10 days." Um, DH had blood drawn on June 23. If you start counting business days on June 24, and you exclude July 4, July 8 was 10 days. Today is the 13th. I'm seriously angry about this, and somewhat suspicious they lost his results. Why is no one competent?

Foregone conclusion: I'm Not Normal

In reading through this, you might be getting a picture that things aren't normal for me.

I've had three miscarriages: not normal.
I have an AMH of .406 at age 36: not normal.
My SIS and HSG results showed something really off in my uterus: not normal.
My uterine lining was <5 mm the day before ovulation: not normal.

In light of this, the results of my karyotyping, which arrived yesterday, should come as no surprise: not normal.

Specifically, I have a balanced pericentric inversion of chromosome 9. The break points are at p11q13. Apparently this is just about the most common chromosomal error in the general population. Oh boy. I guess that means I'm normally abnormal?

What does this mean? Well, going back to biology class, you might recall meosis, the process whereby gametes are created. In my case, during meosis, the chromosome 9 that became mine broke at the centromere, and then again in each arm. Instead of rejoining correctly, it flipped itself. So if " | " is the centromere, the chromosome should have been: A B C D E | F G H. Instead, mine is:  A B C F | E D G H.

On the upside, this is the best of all genetic errors to have. If it was a translocation, we'd only have a 33% shot of a normal or carrier offspring from each oocyte. Pericentric inversions aren't nearly as bad, in fact the majority of people conceive successfully. Alas, they increase the chances of unbalanced rearrangements during meosis, which in turn increase the chances of miscarriage and other problems. Depending on which study you read, the risk of miscarriage increases by anywhere from 1 to 30%. No one bothers with stats on birth defects, but those are higher, too.

So, I wait for my doctor's opinion, but I expect to proceed with injections starting tomorrow. Wish me and my broken genome luck?