Friday, November 10, 2006

4-week Wait

We thought it was going to be ~7 weeks before we went back for another ultrasound and echocardiogram, so it's very good news that we get to look at the baby's heart again in just four weeks. The appointment is scheduled for December 8th at 1:00. We will let everyone know what the doctors say as soon as we find out! We are praaaaaaaaaaaaaaaaying that the doctors will be shocked to see that nothing at all is wrong after all. If there is a problem, then we hope it is something very minor.

Thanks for all the continued prayers! I really believe that all of the prayers and positive thoughts that have been sent our way have done great things already.

Monday, November 6, 2006

Amnio Results

YYEEEESSSSssssssss!! I just got a call from our genetic counselor and our baby is officially cleared of having any chromosomal abnormalities! All 46 chromosomes looked perfectly normal. They also checked for spina bifida and other neural tube defects, and we're cleared of those as well. This is a HUGE weight off our shoulders. Now we can focus our energy on the little heart and hope that it develops correctly and that whatever is wrong in there is miraculously healed.

Baby has been soooo very active these past few days! I love feeling him swim around in my's one of the most comforting feelings in the world. I don't even care that it sometimes keeps me awake at night. I'd rather feel his kicks and punches than sleep any day.

Thanks again for all the prayers and positive thoughts during this time. You've all helped so much in helping us get through the stress so far. We have a ways to go and there is definitely more progress to be made, but we feel we've already come a long way and gotten a lot of very positive news.

Thursday, November 2, 2006

Baby Update Part III

Look at that sweet little nose and those sweet little lips!!

Well, apparently Dr. Nye talked very nicely to her “friend” at the lab, because we got our results back that following day before noon. Not even 24 hours! She rocks. I made Dan answer the phone because I couldn’t hear it if it were bad news. I put my hands over my ears but was still watching him. He gave me a sideways glance and a thumbs up and the hugest sigh of relief came gushing out of me in the form of a waterfall of tears. Our baby now has very little chance of having a chromosomal abnormality. THANK YOU GOD. Later, I went online to see what the accuracy rate of the FISH test was. I am still afraid of the internet because there are so many scary things out there and I don’t want to look at too much since we don’t know anything yet….so I cut my search short. By Monday, my neurotic brain had talked me into thinking that the test wasn’t very accurate and that we were still going to be waiting on pins and needles for another 10 days till the amnio results come in. Dan called the geneticist at the lab and found out that the FISH results are 98-99% accurate in detecting Down Syndrome (which is also called Trisomy 21), and the two other main chromosomal anomalies (Trisomy 13 and 19). WWwwwaaaahhHHHOOooo!!! That is a BIG big big relief for us. Now we can start to focus our energy on being positive and saying more prayers that his little heart will magically heal itself.

Our next step is getting the 99.999% assurance from the amnio that the baby doesn’t have any of the trisomies, and then getting another ultrasound in 6 weeks to hopefully see a clearer picture of the heart, once it’s had a chance to develop a little more. That ultrasound will be done with, I believe, Dr. Nye, along with a pediatric cardiologist. Once again, we'll be in good hands. I wish we could replace our regular OB doc with Dr. Nye completely. Our regular doc, Dr. Junilla, is a complete dud. June-y Junilla. Dr. J. Dr. Dud. Those are a few of our fun names for him. Every time we see him, we end up telling him more than he tells us. He is deserving of a whole separate blog...

Anyhow, we are feeling much better about things now and I would not have gotten through this past week without going completely insane if it weren’t for all of your support and love! We got a lot of positive thoughts sent our way from our friends and family and a lot of prayers were said for our little one and we appreciate that so much. It really means a whole lot to us. Don’t stop the prayers! He still needs more…we are hoping for a clean amnio report and good news at the next ultrasound (no surgery would be great!).

Oh, and I'm guessing you've caught on by all the usage of "he" and "him," but the FISH test showed both X and Y chromosomes, which means we are having A BOY!!! I knew it was a boy all along, but now I have science to back me up.

Baby Update Part II

Friday finally came and this time we were getting the ultrasound done by a perinatologist—a dr who specializes in in-utero baby stuff. We instantly felt comfortable at this place and knew we were in good hands. The tech was awesome…much more personable and comforting than the last one. She explained each thing she was looking at on the baby (by the way, we have a very “content” [lazy?] baby because this was the second time that he would absolutely not open his legs for us to be able to see if he had “stuff.”). It’s so cool so see a little person with ten toes and ten fingers, rolling around and sucking his thumb…and it’s all going on in my belly?! After the initial ultrasound, we got to meet Dr. Nye, our awesome doctor. Here’s what she explained to us:

Our baby’s heart is not “in the wrong place,” it is just rotated a bit to the left. Hearts in most people are turned at about a 45-degree angle to the left and our baby’s is turned almost 90 degrees to the left. This is most likely an indicator of a heart defect, but his little heart is so tiny right now that she couldn’t really get in to see what the problem was exactly. She had a guess about what was wrong and said if it’s that, that it is “very fixable” once the baby is born. This was all manageable news for us to hear, because it’s a little better than what we had been dreaming up all week. However, she then threw something else at us that caught us by surprise. Heart defects are very common in Down Syndrome babies. So with this heart defect, our baby already has a 10% chance of having DS. She also saw a few other “markers” on the ultrasound that are possible indicators of DS. Our babe has very short limbs and he has a bit of a curved finger on his right hand. These are both things that could very well just be genetic (have you seen my legs? Not exactly long.), and everything else on the ultrasound looked good (kidneys, brain, all the important stuff..), but still, those two little markers bumped the chance of our baby having DS up to 20%.

Lots of news to absorb! 20% chance of our baby having DS, along with his already existent heart! But…..looking on the bright side, we kept thinking that means there’s an 80% of no DS and those are pretty good odds. Plus, hearing that the heart is probably very fixable was good news. She recommended getting an amniocentesis done to rule out the DS and all other chromosomal anomalies. Because she’s such a great doctor, she fit us in right that moment and did the amnio on the spot. It’s good that I didn’t have much time to think about a gigantic needle being inserted into my belly…eeks! I didn’t watch because it would have freaked me out, but from what Dan says, it was large. They poked the needle through my belly and into my uterus, on the opposite side from where the baby was sleeping (and still not showing his private parts, for the third time) and extracted some fluid for testing. It wasn’t painful at all, surprisingly. I felt a crampy sensation in my back for about a second and that was it. The results of the amnio take a while (~10-14 days) to come back, so Dr. Nye suggested we also have some fluid sent in for a quicker, less-accurate-but-still-very-accurate, test called a FISH test. These results only take about 1-2 days to come back, so...yes please, sign us up! At best, we’d hear something by Saturday. At worst, we’d hear something by Monday. Either way, it was much better than 10-14 days of wonder and worry.

After the appointment, we were even more worried and stressed out than we had been all week, yet we felt an unusual sense of peace and knew that everything was going to be ok.

Baby Update Part I

Aawwwwwww.....our little thumb-sucking bambino...

Dan and I have been sending out about a zillion different emails to a zillion different people, updating everyone on what has been going on with Baby Porta. We thought we'd start this site so it would be easier for people to get our scoop at their convenience, and to keep everyone on the same page.

It seems like it was 8 years ago, but it was only last Monday that we went in for our routine 20-week ultrasound. I was eager to hear that everything was fine and "normal," so I started to worry when the ultrasound tech began examining the baby's heart from every angle and every degree of every angle...and didn't say a word about any of it. When we left, I told Dan I was sure there was something wrong with the heart. I had a bad feeling. We didn't hear anything from the doctor that day, so took that as a good sign. The next day, it was almost time for me to leave work and I had a weird feeling that I should check my cell phone. I never check my cell at work, so I panicked that I had even had the feeling and sure enough, there was a message from the doctor! I frantically called her and she explained in a very vague, frustrating way that there appeared to be something wrong with our baby's heart. It appeared to be "in the wrong place." I asked if it was something we should be really worried about and she said to try not to, but to get in for a Level 2 ultrasound as soon as possible. UG!! Somehow I made it home without swerving into oncoming traffic through teary eyes.

Dan and I spent the rest of the evening in a daze, with about a hundred different scenarios running through our minds. What did "in the wrong place" mean? We tried googling it, but didn't really know what we were looking, we soon found out that "heart in the wrong place" could mean some pretty baaaad things. No more looking online. Too scary. We said some prayers and went to bed so we could not get any sleep. It was the first of our sleepless nights. On top of it all, our little guy was squirmy that night! I could feel him doing all sorts of yoga poses and circus acts in my tummy. Every time I felt him move, kick, punch, it made me even more sad because it was a reminder that he was really in there and somehow that made the fact that something might be wrong even more real. I think he was so active that night because he was trying to reassure us and tell us that everything is going to be ok. He was showing us his baby ninja moves. He's definitely a strong little guy. He has proven that already.

The next day we scheduled our Level 2 ultrasound for Friday. Two whole days away! We spent those two days wondering, praying, hoping, worrying, you name it.. I got almost no sleep during that time and felt numb and zombie-ish, not knowing what was in store.