Thursday, September 27, 2012

Genetic Counseling

We had our appointment with the genetic counselor, and it went well, I guess. Would have been better if she said it was a big mistake and we were low risk! :) We did confirm that our risk level is 1 in 61 based on my hCG (90th percentile) and PAPP-A (1st percentile) combined in part with the u/s screening done last week. I'll try not to make this too long but want to give the details.

Basically, a relatively high hCG and relatively low PAPP-A shows something could be off, but everything could very well be fine too. There have been studies that show that people who have conceived via IVF have more falsely elevated risk than the average population. And, although they don't think the demised twin (baby B) would make the numbers different three weeks after his or her heart stopped beating, that is also a possibility. They don't really know.

My hCG has been on the higher end all along, so again, in and of itself, it's not a concern. Combined with the relatively low PAPP-A (a protein produced by the placenta) is where the risk comes in. The genetic counselor was very reassuring that based on our family history, the u/s and clear presence of a nasal bone and very good nuchal measurement, she thought we were not as high risk as the numbers present. However, babies are born with Down syndrome with no signs of anything being wrong in the u/s (or in any other pre-screenings for that matter).

Bottom line is, we are still more likely to have a baby with a typical chromosomal structure. There is a relatively new blood test (Harmony test or MaterniT21) that fragments the DNA and compares the number of copies of the 21 chromosome versus other chromosomes. They use my blood, which has my DNA and small amounts of the baby's DNA that has crossed the placenta into my blood stream. If it shows a lot more copies of the 21 chromosome compared to other chromosomes, then there is a very high likelihood that the baby has DS. We had that done today (the Harmony one though they are the same thing) and expect results in 1-2 weeks. This is still considered a screening test, but the results are 99% accurate compared with diagnosis. However, there's a chance it can come back with a low level of confidence or that for one reason or another, we won't even get a result. I just pray that we get a clear indication one way or another.

Make no mistake, this baby is already so loved and an extra chromosome won't change that.  I don't think any parent out there would ever say they want their child to have DS, and we certainly hope that s(he) does not, but either way, nothing changes.

So, that's really it for today. More waiting... we're experts at that.  Thank you for your comments and prayers.

Tuesday, September 25, 2012

Well, then...

It's always got to be something, right?

Well, we got some unexpected news today regarding the blood test part of our first trimester screening. Based on the blood work, there is an elevated risk of Down syndrome. This is not a diagnostic test, so it does not mean Baby O has Down syndrome, but the risk is much higher than one would expect, especially after the u/s findings. The fax was a little unclear (it baffles me that doctors still use the fax... haha), but the overall risk is either 1 in 61 or 1 in 81 based on the combined screening.  The "odds" don't really matter, but we will obviously get clarification on which.

So, we have an appointment with a genetic counselor on Thursday morning. If you could just say a prayer for our peace until then and in our decision making process as far as what additional screenings or diagnostics to do next, we would appreciate it. We will love our baby so much whether or not s(he) has an extra chromosome, but obviously, we pray that s(he) has the correct number.  The good news is that we were very low risk for Trisomy 13 and Trisomy 18.  Praise Jesus for that.

Also, if anyone has any experience with this or words of advice, I'd appreciate it.  I am arming myself with information so I can ask the "right" questions so we can make decisions going forward.  I know that in many (probably most) cases, everything turns out fine.  And, if not, then that's fine too as long as we have a healthy baby.

Friday, September 21, 2012


Today was pretty amazing. We had a nuchal translucency appointment and first trimester screening. This isn't something that everyone does (usually if you're at risk due to age or other factors), though I think it's become common practice to offer it. Since we had a demised twin (presumably due to chromosomal issues), it was recommended that we do this screening, although I would have asked for it anyway. :) They take a really good look at the baby, look for the nasal bone, and measure the fluid in the "nuchal fold" (at the base of the neck). This combined with some blood tests can give an indication of the level of risk that the baby has Down Syndrome (Trisomy 21), Trisomy 13, and Trisomy 18. It will be several days before we get the results of the blood test, but the ultrasound tech and doctor both said everything looked perfectly healthy and that they had no concerns in that regard.

The ultrasound was about 20ish minutes total of scanning (the u/s tech does one and then the dr comes in and does a quicker one just to confirm the tech's finding). It was nothing short of amazing. We got to see Baby O in detail - head, brain, heart, arms, legs, blood flow in the heart, liver and umbilical cord, placenta, etc. Baby was wiggling around, and I just really could not even believe it. I can't wait until I can feel those movements. I will cherish them, even the kicks to the bladder (remind me of that in 20ish weeks). :) Heartrate was more normalized at 160 (which is the high end of normal, last time it was in the 180s), baby measured right on target at 12w2d, and everything just looked good. We were laughing because s(he) was chilling in there with his/her arm up over his/her head, which is how I often find Matt sleeping (think top of the forearm over the forehead). That made me feel good that the embryology lab didn't mix up any embryos. ;) He/she also had his/her legs crossed at the ankles, which was just cute.

I almost forgot to ask the u/s tech if she saw any signs of Baby B.  She said she would have never known there was a demised twin if I hadn't said anything, which is good.  Still a little sad, but good... no bleeds or anything like that.  We are just so overjoyed that everything looked good today.  I am still up in the clouds.

I go back to the OB at 16 weeks and get my next ultrasound (anatomy scan) around 19 weeks. Praying for continuing health until then. Matt and I are in awe of God's amazing work (and of course modern medicine) and just so, so, so thankful. Still a ways to go, but this was a huge hurdle to clear given our DNA concerns with fertilization. I think we both feel like we can embrace this a little (lot) more and really start thinking about the fact that we're going to be parents. Thankful to have a God who works all things together for our good... it may not be how we expect or what we want when we want it, but His love never fails.

Thank you for all your prayers. Please keep them coming, and please pray for all those who are waiting for their own miracles. Our journey certainly hasn't been without heartache, but it's definitely been worth the wait.

Thursday, September 13, 2012

Four Years

Today is our four year wedding anniversary.  In one sense, I cannot believe it has been four years!  In another, I feel like we've always been together.  I won't gush on Matt since I just did that for his birthday, but I will say that I love him more with each passing day.  No, things aren't perfect... we bicker and say things we shouldn't just like any other couple, but I know that he is my soulmate.  We just work together.  Don't get me wrong, because we know we have a good life, but it seems like a lot of external "crap" has been thrown our way over the last four years... him working out of town for almost two years, me losing my job (okay, that wasn't really so bad, especially at first... funemployment!), infertility, job uncertainty... but all of that has only made us stronger.

Looking back at some of our wedding pictures, I do think we've aged a little in the last four years.  Ha!  I guess that's what happens if you're lucky, but we looked so young... and skinny!  :)  Cheers to the next 44+... I think the best is yet to come.

Tuesday, September 11, 2012

I will never forget...

The memories of this day eleven years ago are seared into my memory, and I want to keep it that way.  I don't want to ever forget.  I went to my soccer class (don't judge my rigorous academic schedule) and about half way through, around 9am, a kid rode up on his bike saying a plane had hit the World Trade Center.  Shortly thereafter, I left the field to head back to the sorority house.  I didn't know at the time exactly what was going on.  When I arrived back to the house, the TV was on in the "fishbowl" upstairs and I saw the second plane hit the tower.  It was a replay of the second plane hitting, but at that moment, I thought it was live and immediately knew this was no accident.

I was glued to the coverage all day.  Feeling so helpless, shocked, sad, angry, and scared.  I remember seeing the people "jumping" from the buildings and learning of the plane that crashed into the Pentagon and in the field in Pennsylvania.  I truly cannot even imagine the fear that the people trapped on those upper floors of the Towers faced that day.  And, I don't think of them as jumping to their deaths... they were going to die one way or another, but I truly think they were forced out by the fire, smoke and heat.  I remember the rumors swirling... another plane was en route to LA and another to Chicago to presumably take out the Sears Tower.  We didn't know what to do, so we went to donate blood.  Only, we never even got to because there were so many people doing the same thing... trying to do anything they could besides pray on that awful day.

Any time there is coverage on the September 11th attacks, I feel compelled to watch.  It makes me so mad to this day, but I don't ever want to forget that day and the people who lost their lives or the people who ran in and up the buildings when others were running down, out and away, nor do I want to forget how united we were as a nation after the events of September 11th.  No one cared about political party, race, sexual orientation, social status, religion, etc.  We were a united America, mourning an unthinkable tragedy and celebrating the heroes that did what many of us could not fathom.

I may have only been a 19 year old sophomore in college, but that day impacted me in so many ways, good and bad.  To this day, I still have recurring nightmares about planes crashing into buildings or the water or a field and about terrorists attacking me.  I cannot imagine having actually lived through it, not just via images on a television from over a thousand miles away.  I would never wish for something like that to happen again, but I do long for the unity that we experienced afterward.  It is a shame that it takes a devastating tragedy such as 9/11 to bring us together in that way.

May the nearly 3,000 innocent souls who lost their lives that day rest in peace and may God always bless America.

Wednesday, September 5, 2012

And then there was one...

My mom and sister accompanied me to my first OB appointment Friday while Matt was off fishing in Boca Grande (rough life). We did the ultrasound first and I was thrilled to see the babies again. Unfortunately, little Baby B is in heaven now. There was no heartbeat, although the fetus is still present. It measured yet again a little smaller (6 weeks and I was 9w2d), but everything is still in there for now. By my next appointment, I assume the tissues all should be gone. However, we were thrilled to see Baby A (now just Baby O) still thriving. Baby O's heartrate was 182 and 188 (really high, but not concerned... only concern is if it's too low... old wives tale says high HR is a girl... we'll see). We got to hear the heartbeat for the first time, and it was awesome.  We had no idea that was going to happen, so I think we all had a collective "awwwww" when the u/s tech flipped the switch for the doppler.  (S)he was just shy of an inch and measuring within the normal range, just a few days behind. I was pretty small and Matt was huge, so I am hoping that s(he) will take after me in that respect! :)

I really liked my OB. She was to the point and almost a little sarcastic, which works with my personality, but she was really nice. She has twins and another baby, and she assured me that one at a time is the way to go. :) It was a pretty quick appointment, because I didn't really have any questions and I'd already had most of the bloodwork and exams they wanted to run done at the fertility doctor. I don't go back until Sept. 21 (how will I make it that long!?!?) ;) for the nuchal translucency scan and follow-up at the dr after that.

So, that's it for now. I'm pretty tired, but other than that, still feeling good. No nausea or anything, but I am having some weird food aversions - for example, I cannot eat grilled chicken (even Zoe's, which is my fave... ugh, makes me want to gag), but I ate an order of grilled squid in all of its tentacly glory and it was delicious. Explain that one. And, I really just want to eat carbs most of the time. Oh well! Trying to stay somewhat active to make up for it, but I definitely need to kick it up a notch. My belly is already expanding (some days moreso than others), and I think it's carbs as much as it is uterus! lol

Thank you all for your prayers and support. While we're sad for the demise of Baby B, we've prayed (and prayed and prayed and prayed) for a healthy baby, so we are certainly more than comforted that we have one little bean that is looking good so far, and that's all we can ask for.

It's a baby!

Growing uterus or the result of Matt's birthday dinner from the night before?  Perhaps both.