Monday, February 9, 2015

Genetic Counseling, High Risk OB, results, and more! (part 2)

(I know the story is long, so I split it into 2 parts-- though if you're anything like me, you'll want to read to the end of the story anyway :)

Enter High Risk OB, stage right
The first words he said (apart from introducing himself) were music to our ears: "I'm pretty straight-forward. You're going to know everything I know today, I'll tell you what I see when I see it." Thank God we wouldn't have to wait for a report! 

The second thing he said was almost better: "I have looked at the radiologist's report and the original images, and I don't see what he thinks he saw, but we'll take a look and see if we see anything of concern." I breathed the biggest sigh of relief.

He explained that he would look at the heart, and kidneys, and measure baby's femurs (a common indicator for Down Syndrome, I guess). I let him know, much to my Husby's chagrin, that we were waiting to discover the sex of the baby until birth. He joked with us about not worrying, we wouldn't be able to decifer what was what in the ultrasound without him telling us. 

We got to see everything he saw. It was glorious. He explained everything he was looking at. He showed us the baby's femur, and I looked at the screen....

Femur, baby butt, femur... Hmmmm... I'm no expert (I thought to myself), but I know  the difference between a penis and a vagina. And I FOR SURE do not see any boy parts! I think we're having a girl! I kept it to myself because, after all, I'm not an OB, and I could totally have been confused about what I saw- there was still a chance at being surprised!

The OB told us that femurs measured normal, and what they thought was a Cardiac Foci in the heart, was actually just a muscle that was lighting up brightly, and that all the chambers of the heart looked normal, and the muscles were shaped the way they were supposed to be. The kidneys were measuring right on the outer range of normal, but he felt that it was not an indication of any defect and it would self-correct. He said baby looked  good and healthy and there was no indication to him of anything high risk and we should have an easy and uncomplicated delivery (please baby Jesus!) 

He then proceeded to try to take some quick pictures for us, and little peanut still would not cooperate. He printed them anyway, along with a report of all the measurements he had taken of the organs, etc. It was Greek to me, so I handed it to Alex to hold while I wiped the ultrasound goo off my belly. 

I saw his face light up. 
He silently turned the paper I had just handed him toward me and pointed to the upper right hand corner. 

"Sex: FEMALE"

All my pregnancy hopes for a gender reveal after labor were dashed in that instant. It was official, not just my guess of what I saw on an ultrasound. Alex was jumping out of his seat with excitement, and all I wanted to do was cry over my loss of a major part of my birth plan. 

But really, that lasted about 2 minutes. 

Also, my favorite part about this story is that Alex tried to console me after we left the office while he is practically jumping for joy with excitement (he REALLY wanted to know what we were having, and REALLY was hoping for a girl). He suggested that we could just not tell anyone else what we were having if it would make me feel better. Hahaha. I laughed and said, "yeah, how long were you able to keep the secret from me? Not even a second!" Oh well. I think it's God's little gift to Alex, and I'm okay with that. 

Baby is healthy!
Baby is a SHE!

Glory to God!
Thank you all for your prayers. 

Yes, we have a name picked. No, I'm not going to share what it is. SOMETHING has to be revealed after birth! ;)

Genetic Counseling, High Risk OB, results, and more! (part 1)

Alex and I walked into the genetic counselor's office as a big 'ol bundle of nerves. The geneticist instantly put me at ease with her warmth and smile- I was impressed to see her PhD in genetics on the wall- she REALLY IS a geneticist! Lol, I don't know why but I was expecting a counselor more than a geneticist. I could blame it on pregnancy, but let's be real...

She asked about family history on both both sides: disease, birth defects, pregnancy history of our parents and siblings, etc. and she drew little shapes on a piece of paper to represent the info we shared. She was mapping our genes! The closeted (I hope) nerd in me still thinks it's really cool. 

Anyway, what we learned: my quad-screening blood test (which screens for trisomy 21 (Down Syndrome), trisomy 18,  and 2 other genetic disorders that I'm too lazy to google right now) came back with this result:

1 in 285 chance of trisomy 21
1 in 10,000 chance of trisomy 18

So, in and of itself, the 1/285 chance of T-21 was not statiscally significant enough to notify us (I think she said they notify at 1/280 or higher risk- so we were still pretty close). However; the radiologist indication what he thought may be a Cardiac Foci on the heart- a calcium deposit which shines brightly in an ultrasound and is one of the (multiple) clinical markers for Down Syndrome that they look for. 

So, with the combination of statistical likelihood based on my blood test, combined with the 1 potential soft-marker, our statistical probability chance to a 1 in 11 chance of Baby having T-21 (Down Syndrome). I still am kind of shocked at how quickly the numbers flipped! We went from like a .03% chance to a 10% chance- that's super statistically significant! (Says the girl who has never taken a statistics class, and is not a mathematician. Haha.) 

The other potential concern was that baby's kidneys were measuring large which can be indicative of other defects, but that seemed to be less concerning to the geneticist, who informed us that the High Risk OB would look more closely for those markers in our ultrasound, but that the only way to rule out or confirm T-21 with certainty would be to have an amniocentesis, which the OB could perform during the Ultrasound that day if we decided to have it. 

Alex and I went back to the waiting room to await our ultrasound and discuss what we had heard. My sweet husband was concerned about knowing for sure if Sweet Baby O had T-21 because he knew the range of special needs was a wide one, and he wanted to be able to catch any potential heart defects/needs, early on. I'll be honest, I've always known about amniocentesis tests, and I understand their purpose in aiding diagnosis, but when faced with the test being performed on MY womb, and potentially risking the life of OUR baby (though the risk is small, there is still a risk)... I just could not get the image of that needle out of my mind. 

Alex and I decided that we would wait to see what the High Risk OB said and what the ultrasound showed, and we would go from there. 


Friday, February 6, 2015

Our Very Scary Week

We went to our 20-week anatomy scan with bright-eyed naïveté. (For those of you who either were pregnant before they did these anatomy scans, or are not in the phase of life where you/your besties/everyone you know is getting married and having babies... Let me explain. At 20(ish) weeks it is now customary to have an in-depth ultrasound in which the tech measures and takes images of all the main organs, etc. screening for any potential defects.)

We were so excited to get to watch our little one swim and squirm for 45 whole minutes while the tech snapped away! Ha. In reality, they made Alex wait in the lobby, and I stared at the dimmed fluorescent lighting in the ceiling while the tech pushed, and prodded on my uterus and (full!) bladder for 45 minutes, politely responding with no emotion to my every attempt to break the awkward silence with a witty quip or comment. (In her defense, they aren't allowed to reveal any info or lead you to believe things are good/bad due to liability.) 

At one point, I started to have a mini panic-attack because it seemed to me that she was going over and over the head/heart area of my baby. I thought this because it's the biggest part of the baby- and it hurt when she pushed! She finally told me she was having difficulty getting the baby in a position to capture heart images, and she sent me to retrieve Alex from the waiting room and go to the bathroom (thank God! I had to throw up! #noimnotjoking #mypregnantlife) 

Alex came and stood in the room and tried to decipher what exactly it was he was lookin at on the screen, while the tech chased the baby around a few more times, and then finally gave up. She explained that baby was laying horizontally across my uterus, with it's back facing out (face toward my spine). She explained that she couldn't get the images of the heart she needed, and they would be calling us to come in for another ultrasound, not to panic when we got the call. 

We did leave with this adorable little image of the glow worm that I am apparently carrying in my womb:

And that's as good as the images get! 😁

A week later I received a call from Kaiser wanting to schedule an appt for us with a Genetic Counselor, and a High Risk OB for an ultra sound. Woah. The tech had not said anything about genetic counseling, or a high risk ultrasound. I knew this was something different than just a re-scan for better imaging. But then again, Kaiser is all about protocol and procedure- was this just routine?

I contacted my OB's office and a nurse told me they had found markers on the ultrasound that triggered the genetic counseling and high risk OB appt, and that she would try to have my OB contact me with more info. 

Parenthood is a crazy thing. This baby is not even on the outside yet, and already we, as Mom and Dad, our hearts are
pre-occupied with wanting to protect and care for this little one even now. The "what-if" possibilities were swirling around us. Fear of what health problems our little one may have, whether or not we would have the means to care for it's every need, could we be "enough" for it, as parents? Would this baby get to stay with us? 

I was explaining to a friend yesterday, that this moment for me was my "rubber meets the road" moment. This moment in which I truly had to own and apply my faith in God and belief that ALL life has purpose and value and is a gift, no matter what that life may look like. It was a beautiful chance for me to realize how much my niece Lucy, and nephew Timothy, had grown my heart to be able to take that leap of faith and know it would be worth the risk and the pain. This baby, no matter what, was chosen for our family, and Alex and I could only pray that we could be what God was
calling us to be for it. 

After finally hearing back from the OB with more info about 4 days later (it turns out, she had left me a detailed voicemail before the initial appt call had come through, but I never saw it sitting on my phone), the OB confirmed that the ultrasound had shown potential soft markers for Down Syndrome in the heart and kidneys and THAT is what triggered the counseling appt and ultrasound with the High Risk OB. 

I cried sweet tears of relief. If Down Syndrome is all we have to worry about, then we really have no worries at all! My sweet Godson Timothy has taught me so much in just one year of his life about authentic JOY and love, I cannot imagine my life, or the lives of my future children, without his pure heart and faith to help us be better. With that news, my heart relaxed. I mean, come on, folks! Look at this face:

And his chubby feet and hands... I seriously can't stand it:


So if our little baby is anything like it's cousin... We will be blessed beyond measure. 

(Tune in next time, for the low down on our high risk appts)

Wednesday, February 4, 2015

Pregnancy Updates

Sorry for the lack of blogs. I have excuses, but... eh. I realized today that you may not remember that I am pregnant because I have been so absent - Heaven forbid! I am sorry, dear readers, that I have robbed you of my pregnancy over sharing.  Allow me to catch you up, and indulge in way too many bump pics. 

Sweet Baby O is still scheduled to arrive June 4, as "scheduled" as any non-surgical due date can be anyway. Let's be honest, babies come when they are good and ready. 

This little peanut is already a snuggly, cuddly, little one! At our 20 week anatomy scan, baby was so comfy and uncooperative that the tech couldn't get the images she needed, no matter how much she tried. Little stinker!

I am finally starting to feel like I look pregnant. Husby is excited for that because I can finally stop asking him if "I look pregnant, or just chubby?" For the record, he has been wonderfully insistent that I have looked pregnant for weeks... God love him! 


23 weeks! More than half way there. The first 16 weeks dragggggggged on. Between waiting every day to see if this little babe would get to stay with us, to the absolute pregnancy exhaustion - which, by the way, NO ONE can fully prepare you for weeks of feeling like you've been hit by a truck! (I've never had mono, but I'm pretty sure that's what I felt like for weeks 7-14ish) - the days dragged (drug? #whocares) on. Oh also, there was this little thing called "Morning sickness" (also not prepared for that) which I had from about week 6 to week 8. And then, at week 8, I stopped just feeling nauseous, and started actually throwing up. Daily. Sometimes multiple times a day. 

I counted down the days until my first tri would be over and I could stop throwing up. And when I got to week 18, I tried to not think about how many weeks I had spent hung over all of the toilets in SoCal (literally all of them). My favorite part (not) was when people would ask how I was feeling, be surprised when I told them the truth, and then tell me "don't worry... You'll be to the end of it soon! How many weeks are you?" I celebrated Week 20 (NOT within the First Trimester of pregnancy, for those of you who have difficulty dividing 40 by 3 #errbody) by "tossing the proverbial cookies" as I shared on el FB (though it wasn't actually cookies, because #gfsfdfsucks ). I actually started to feel better for most of week 22, but don't get too excited, because I celebrated those 3-4 glorious days by getting sick again yesterday. 
People tell me "it will get..." And I interrupt them: "Nope. We're past that point ::SMILE:: looks like we're in it for the long haul." 

And that's okay, because... Baby. (All the heart eyes)

More updates for you- like the story about our scary ultrasound, and MORE! Coming up on the blog... At some point (let's keep it real ;). 

In the meantime, want some awkward bump selfies??? I know you do.