life and puppies

Ok, so where was I? Right, right. Phone call, genetic information, crying, amnio scheduling.

Monday, September 12, 2011. The genetic counselor told us our odds were not on the awesome side of where we wanted to be, so she had gone ahead and scheduled the amniocentesis. Now, this is where I began to get a little annoyed with the universe. You see, we had the first trimester screening when we thought I was just under 13 weeks along. A CVS procedure, which gives you results that are similar to an amnio (but not nearly as comprehensive), can be done up until a woman hits week 14. We had thought there would still be time to do the CVS if the results from the screening test came back not-so-great. We were wrong. Because the ultrasound portion of the screening test changed our due date, I was now just a few days past the 14-week marker, so a CVS was off the table. Although the amnio can give more answers, it cannot be done until after 16 weeks of gestation. So, as I said last week, now we were in for a wait. Two weeks felt like two years. I must have googled ‘amniocentesis,’ ‘1/87’ and ‘does my baby have Down’s Syndrome?’ every day. Almost immediately upon learning I was pregnant, I was bombarded with information about the tests available and suggested (or, it sometimes seems, mandated) for a woman of my advanced maternal age. When I had read about amnios earlier, I got nervous. The procedure itself didn’t sound awesome — a needle through my belly into my uterus to extract amniotic fluid — but it was the risk of miscarriage that scared me. As we approached the date for my amnio, though, I really held almost zero fear about the actual procedure or the risk. I had read that although the risk of a miscarriage is often cited at about 1/300, the actual risk is really much lower, particularly in a hospital in which the procedure is done frequently. So, when we finally went in for the test, I was nervous only about the results.

Monday, September 26, 2011. The cool thing about the amnio is that you get to see your baby again. After 45 minutes of genetic ‘counseling,’ at which we saw the breakdown of the first trimester screening numbers and were shown a diagram of what the amnio would look like (Aaron nearly passed out at the sight of the cartoon needle), we were ushered back into an ultrasound room and the warm jelly was again applied to my belly. And poof! There was baby again! The baby definitely looked bigger than the last time we had a viewing and, to me, the baby looked healthy and content. Only a few minutes went by before the ultrasound tech asked us if we had wanted to know the baby’s gender. We indicated yessirree and the woman gave us the most wonderful news: we were staring right at the baby’s girl parts! That’s what she told us the scientific name is: girl parts. We were, and are, so thrilled. After many more minutes of the tech taking a million measurements and poking at the baby through my belly, two doctors came in to meet us, a man and a woman. The man must have been some sort of resident or something, though I did not catch his role, because he was clearly taking instructions from the others. The woman was nice enough, though she seemed as though she may have done this one million times before and did not find the procedure nearly as significant as we did. After some pen marks were made on my stomach, the man poked me with a needle a fraction the size of the cartoon needle that had made Aaron woozy minutes earlier. The man had also given me a poke with something that was to numb the area, but he admitted he wasn’t sure it would help much. This is because, I assume, most of the discomfort comes from when the needle hits the uterus, not when it goes through the stomach. I had read people describe the sensation as akin to menstrual cramps, but I’m not sure I’d call it that. It wasn’t exactly painful, but it didn’t feel great, either. I would say it felt uncomfortable and tight and prolonged. Three different vials had to be filled with amniotic fluid; I think two were for the full chromosomal testing and one was for the FISH test (see below). After the vials were filled, the doctor took the needle out and we were done. Simple as that! Well, and then we had to wait. Again.

In the weeks after receiving the first trimester screening results, I had read that people have to wait a week or two for the full results from the amniocentesis are available. But I also read that there is a special test, called FISH, that can be done in some areas and which gives a couple their results much faster. The FISH test takes the cells from the amnio and injects some sort of illuminator into them, which illuminates chromosomes 13, 18 & 21. If the test shows that those three chromosomes are present in their normal form — just two of each — then presto! There goes your risk for Down’s Syndrome (Down’s Syndrome is diagnosed by an extra chromosome 21; an extra chromosome 13 and 18 represent different, far less common, disorders)! I didn’t know if Meriter offered the FISH test, but I was hopeful. About halfway through the counseling session that immediately preceded the amnio, I asked how long the wait for results would be. Our counselor then told us that the FISH test was, indeed, an option. She said that we could have it done, but she could not guarantee that insurance would pay for it and it could cost us about $1000. Now, we don’t exactly have an extra 1k sitting around gathering dust, but if there was anything we could do to speed this process along, I was all for it. Sign us up, we said! We were told the amnio results would be ready in seven days (not business days, but seven actual days — I made sure to clarify this) and the FISH results would be ready in 48 hours.

So, after the amnio, we went home and I laid on the couch. What else is new, you’re thinking. I know, I know: not much. Anyway, I took the next day off from work just to make sure that there weren’t any side effects from the test (some women experience cramping, bleeding or loss of amniotic fluid but I experienced nada, really) and, frankly, to relax since the last two weeks had been filled with nothing but anxiety and panic. I had been hoping the FISH results would come back early, but no dice. Tuesday came and went and we still did not know if our baby had Down’s Syndrome.

Wednesday, September 28, 2011. We went to work and tried to go about our day. I became really busy in the morning — drafting some sort of unexpected motion, returning a couple of phone calls to a judge’s chambers, etc — but then things turned back to my normal course of work-life, which entails writing and thinking and researching and reading and thinking and writing and thinking. Too much time for thinking and my mind inevitably wandered. Aaron & I walked out to the farmers’ market and took a couple of loops around. I gripped my phone the entire time, willing it to ring. It didn’t. Finally, at about 2:45 pm, rapidly approaching the 48-hour anniversary of the fluid-taking, I called the perinatal center. Well! From her voicemail message, I quickly learned our genetic counselor does not work on Wednesdays! You’d think she could have mentioned this when she said, “If you have any questions, call me” and “Your test results revealing a large part of your baby’s future will be available in 48 hours.” Anyway, I finally reached the “on call” counselor and she was extremely nice; her voice instantly calmed me. She told me FISH results are not reported until the end of the day, but she would make sure to call me as soon as they came in. I breathed a sigh of relief. Although we still had waiting to do, I was pretty sure we were in the home stretch. Of course at this time, there was a knock on my unusually-closed office door. It was my secretary, asking me to sign a motion or something that I had given her earlier. She asked me to remind her what test I had done and what the results I was waiting for would tell us. I relayed the information, to which she oh-so-helpfully told me, “Oh, I would never do that test. I mean, what difference would it make? It’s not like you can do something about it.” I gritted my teeth, tried to remain calm and tried with all of my physical and mental will not to stand up and hurl myself at her throat. I succeeded. Instead I smiled curtly and said, “Well, I need to know.” There was another interruption at this time when a colleague, seeing my open door, started to rant about something so ridiculous that I cannot even bring myself to print it here. Suffice it to say, it was along the lines of complaining about the color of the elevator buttons in an elevator she has never had to ride in. I mean, it was nothing. And it was driving me crazy. My baby might have a chromosomal disorder! I have real problems here, people! Stop talking to me and let me go back and hide behind my “I should close it more often” office door. Soon – though let me emphasize not soon enough — the counselor called me and said, “Kate, I have great news.” And I then became so happy I thought I would burst. After telling me the baby’s chromosomes looked great, she said, “Now, did you want to know the gender?” I said we did want to know, and the ultrasound tech had told us what she thought the baby was. The counselor said, “Would you like me to confirm or deny that information?” I said, “I would really like you to confirm it!” And confirm it she did: two X chromosomes on Baby! I was elated. After I hung up the phone, I immediately went into Aaron’s office smiling, hugged him, told him the news and burst into tears. What a relief.

We had to wait longer than seven days for the full results, though. In fact, we did not get the full results back until Wednesday, October 5. The full results also came back normal, which was another great weight off of our shoulders. While the waiting on that information wasn’t fun, it was nothing compared to the two weeks we waited for the amnio, and the 48 hours that followed that. I know many people would, and do, decline these tests and I know that they do so for a variety of reasons. And while I do not wish the stress of what we went through on anyone, the knowledge we have gained — and at least our momentary peace of mind — is invaluable to me. Right now, I am actually enjoying being elderly gravida. My baby girl is growing and breathing and moving (though I can’t feel her yet) and has all her chromosomes in all the right places. The worry button has been reset to DefCon 3.

I’m sure I’ll ratchet it up again as we go into the 20-week ultrasound.