Amnio results

I received the results from my OB/GYN at my regularly scheduled appointment. She happened to have received the fax before anyone could contact my Perinatologist, who was out of the office. I had expected to hear from someone in the afternoon, but wasn't expecting my OB to be the one with the information. So when she asked me how I was feeling, I told her the truth--I am mentally screwed up right now. She assumed I had heared the results. Nope, just the state of mind I've been in, but hey let's hear those results. Well, she had never actually seen these type of results. One page for twin A showed normal chromosomes, and listed the baby as female. Flip to the next page for twin B and it was blank, except for a disclaimer reading that only 1% of analysis comes back inconclusive, which of course was the case for twin B.

After a few phone calls to the genetics lab and the Peri office, we discovered that they couldn't produce the results for twin B because these types of results just don't happen. It's the assumption that identical twins are identical--if one twin is "normal" then in theory the other twin is as well. This isn't the case here, so a human had to re-evaluate the results. During cell division, twin A was spared the "bad" chromosome resulting in an unequal cell division. Twin B is diagnosed with Turner's Syndrome. It's only associated with females. The abnormality itself is quite unnoticeable in society, and most women go on to lead normal lives. In this case, the syndrome is presenting so severely that it's the cystic hygroma and fluid buildup around her heart, lungs and stomach (hydrops) that it's crushing her internal organs. If the cystic hygroma were smaller, and little to no hydrops were present, the odds are that she would survive. However, I've been told it's only a matter of time that the continual increase in pressure will shut down her heart.

The Peri called me immediately following my appointment with my OB, and informed me that he had already been on the phone with Cincinnati regarding my results. Typical Turner's Syndrome diagnosis is reviewed by an ethics committee to determine termination status. In this case, all specialists agree that it's not an ethical issue (medically speaking) and that my best bet, and twin A's best chance at survival, is to get to Cincinnati ASAP. Cincinnati called me shortly after the conversation with my Peri and had me registered at their hospital with an ultrasound scheduled for this Mon. These conversations all took place driving from the OB office to the freeway, which is about a 10 minute drive.

It's a lot to digest and I find that I can't breathe if I have to think about it too much. I do know that the specialist there will look at specifics of the ultrasounds and make his own determination. I know if I were rational and not thinking from a maternal pregnant, oh god please just save this baby and give me a miracle point of view, I would see this as others do. Maybe sleep will give me some perspective. Right now I just don't know how I will ever recover from making an impossible decision. The odds of twin B dying in utero is great, the odds of survival to birth is low. The odds of twin A having side effects (cerebal palsy or brain defect, etc.) if twin B dies in utero is high, very high. The odds that I will have a "normal" pregnancy after going through the procedure to do ablation on twin B is very high. Still with all this information and all the doctors and specialists on the same page in this, I have a huge moral hurdle that I can't even fathom I am faced with.

So much fun...that they did it twice

I had an amnio today on both babies. I hadn't mentally prepared to have it done twice, but I do understand that the Dr. wanted to get as much definitive data as possible. They did a very long ultrasound on both babies and my favorite tech was assigned to me today so I was relieved about that.

Twin A still looks perfect in every way. Twin B still has tons of fluid built up everywhere, but is still measuring right on in brain, heart, length, etc. if you don't count the cystic hygroma. The tech said it's the largest CH he's seen (about the same size as the baby's head in diameter). The Peri. told me twin B has pretty much every area impacted because of the CH and also has hydrops (organs are floating in fluid as well). He told me he'll be in touch with Cincinnati immediately following the results of amnio, so he's definitely heading that route but I'm still not there yet, can't come to a conclusion. I told Rick that we have as much time as we need to make any decisions, even if it seems like the Dr. wants us there next week.

The amnio was guided by u/s the whole time with both babies. I covered my eyes, Rick watched. If it weren't happening to me I would have totally watched because that's really interesting to me, but I couldn't do it just knowing if I saw the needle get close to a baby I would instinctively jerk out of the way. Rick said twin A seemed to move toward the needle at one point and then bounced away. It's pretty amazing how they can take 3 large vials of the fluid and there was still a lot of the fluid around the babies. Another interesting thing they do for twin amnios is they put blue dye in the amniotic fluid after the first amnio, to ensure that he doesn't miss his target and re-puncture that sac. He said his next sample would come back blue if that were the case. I held back my question whether twin B would now look like a smurf.

The needle insertion itself wasn't painful, just a pinch and then a weird sensation like you'd feel if you hit that funny bone part of your elbow and get that muscle spasm/jolt. That's what it felt like when entering the uterus and any time the needle moved to swap out the vials. It did take longer than a normal amnio would, obviously because he had to do it twice but also because he said it would be a little more complicated because the way the twins are positioned and how the membranes are interconnected. But after it was all done, he said it went well and the fluid was nice and clear for both babies.

We ordered what they call FISH results, basically rapid results that determine about 80% of the possible chromosomal abnormalities they test for. We should hear back on Fri. for this and then it takes about one week for the complete panel of testing to be completed.

Sophia is hanging out at Noni and Papa's for the day, most likely getting spoiled by her aunts as well there. I've been laying down for the most part today. Slight uterine spasms and mild cramping here and there, but nothing to complain about.

Second trimester

Today marks the beginning of the second trimester. If I could visualize this celebration for you, it would be miniscule people throwing miniscule confetti. To put it plainly, yay me. Small achievement given the current events of this pregnancy. Which pisses me off, really. I'm pissed that I have this anger and self pity, pissed that I can't enjoy this pregnancy. I'm pissed that I don't have the energy to get really really pissed. At least if I had the energy, maybe I could work though it somehow. OK, pity party over. That's how I'm feeling.

I guess one is supposed to start feeling more energy as the second trimester begins. I hope this happens, because I'm exhausted. Sophia is the same bundle of energy she always is, and there's no slowing her down. I feel guilty that I can only make feeble attempts at chasing her or tickling her. She requires so much one on one time, that in itself is exhausting. We are making progress though, I've gotten her to play by herself for a maximum of 5 minutes. So I apologize if I don't answer the phone or don't call back. I may be sleeping, I may be showering for the first time in a few days, or I may be stuck on the floor with Sophia literally running circles around me.

I have the amniocentesis scheduled for next Wed. morning. This is a tentative plan, as it's so early on to perform an amnio that the Dr. has to do an ultrasound to find if certain amnion and chorion development is met. If the amnio does happen, I should have some initial findings in 3 days (72 hours) for the fast results. I'll update after this appointment on Wed.

Coast house visit

Rick is doing some work at a friend's house about a 2 hour drive up the coast. I've posted a few times about this place. It's really a treat to stay there the views are amazing and the place has a huge professional kitchen. The drive is not so pleasant for me. I get major car sickness, and even driving with 24 miles of coastal winding roads, I have to pull over for a breather. So far, thankfully, Sophia hasn't inherited the trait.

We went to some beaches while we were visiting. We saw a lot of cool stuff: a flying male peacock, a huge jellyfish that washed up on shore, 2 huge starfish that also washed up but were still alive so we attempted to rescue them (after Sophia poked them a few times), and it's harbor seal birthing season so we saw a ton of harbor seals while exploring.

4th of July

We had a great time on the 4th of July. Started out the morning with a patriotic breakfast at home.

We decided to keep it local this year, and set out for the Hercules parade. This parade was perfect for Sophia; it only lasted about 20 minutes, had horses and people throwing candy.

After a nice BBQ at the in-law's house, we headed off for the fireworks.

The little mutant

My poor little mutant twin B is quite a troublemaker. I went back to the Perinatologist office yesterday for genetic counseling and to have the CVS. After quite a long time discussing my history with the counselor, and listening to the increasingly confused information she was giving about the difficulties of determining anything from the CVS, I went in for another ultrasound. I was still thinking maybe there's a small possibility that they can use the sample to determine the fate of twin B, but the Perinatologist pretty much said out loud what I was starting to question. There is really no reason to have the CVS. Both babies sharing a placenta will give a mix of twin A cells and twin B cells, and it's highly likely that the result will be confusing. Man, I wish he had been there at my NT scan the day before and not rushing off for emergency surgery. Like anyone else matters but me, right? OK, not true, but it would have saved me a sleepless night and a few hours of everyone else's time.

So without trying to make this anymore complicated than it is, the bottom line is that we are in wait and see mode. Twin B is most likely not going to make it too far. We don't know how far that may be, but the fluid levels are significant enough where it could be 1 week or several weeks, or surprise us all and fight for a longer time (in which case I will nickname twin B mutant ninja). I can clearly see what they call a cystic hygroma (see image below) in twin B, while twin A looks fine. The Dr. thinks this discrepancy alone rules out TTTS and most likely chromosome abnormality. And really, it doesn't matter at this point what it is, it's just not good. Now the best option is to get a sample of the amniotic fluid, since both babies have their own sac of amniotic fluid. This will narrow down the specifics of each baby and what is going on. The amniocentesis is usually done at 16 weeks, but it may be done earlier and that is one of the things my Dr. is researching right now.

At this point, it looks like 2 things can happen: (1) twin B will die naturally and will either impact the health of twin A or not, or (2) twin B will survive long enough to obtain an amniocentesis of what's going on which will result in more decisions to be made.

I'm in high research mode. The Dr. told me this is such an unusual case (surprise, surprise--it's a fluke) that he's putting calls out to other specialist to see if they can give some case studies. I will have weekly ultrasounds until we need to make a decision or until a decision is made for us.

Impossibilities

It's impossible to accept any possibility other than one I am wishing for and have been wishing for since this all started. I just want healthy babies. I want it to be a healthy pregnancy. I don't want any more complications. Today I had my NT scan and things don't look good for one of the twins. They found fluid around the baby, which indicates either chromosal or anatomical abnormality. If it's chromosomal, the odds are highly likely that both are impacted since they came from the same chromosomal make-up. If it is anatomical, the chances that it's limited to the one twin are greater, although it's unknown if the other twin will be impacted. The only way to determine at this point is to have a CVS or amniocentesis to rule out chromosomal abnormality. Either way, I am faced with impossible decisions right now. I'm most likely going to have a CVS in the next day or so, and hopefully there won't be complications from the procedure alone. It's risky, but waiting until the timeframe for an amniocentesis (4 more weeks) and also the fact that they'd have to take a sample from each sac--increasing odds of complications with an amniocentesis, which has risks of its own--pushes me into the direction of CVS. I probably would have been encouraged to have either procedure anyway, given that I'll be 35 when the babies are born. I would have liked to have a more convincing reason not to have the procedure done though.

Routine "new pregnancy" OB appointment

I had my official OB appointment and both babies looked great and measured right on the mark. They were both bouncing around like crazy; it was a relief to see them moving so much. The spotting has pretty much stopped (afraid to say it has stopped because that might jinx me and make it start again).
I am so thankful to have these babies thriving, so thankful to be pregnant, so thankful to be healthy. But I have a lot to get used to here. This pregnancy is so different from my pregnancy with Sophia. I am hit-the-wall-I-can't-move-TIRED so much. Simple activities wear me out. I'm so not used to this. And I'm not even through the first trimester yet! And I hate to complain, so I'll stop there.
I have my 12 week NT scan with the Perinatologist on Wed. This is the screening for various chromosomal disorders, and also a scan of all the organs and growth.