Friday, December 15, 2006

Some Relief

We received the preliminary results of the latest amniocentesis checking for any problems with Chromosome 22. The news is good, there is no sign of deletion or any genetic problems.
We are very relieved and feel good having that knowledge. Our baby's heart problem is an isolated issue and now we can focus our prayers and attention on that.
We are believing God will give us a total miracle and if that's not His will, then we'll take a hefty baby boy ready to go through some surgery.

The support we've received has been strongly felt and we are forever grateful. We have a long road ahead but are glad to be able to get past this hurdle and focus on the next.
We know God is with us and are confident His plan for our family is a good one.

Thursday, December 14, 2006

Amnio #2

Owie, the second amnio was significantly more painful than the first one. Since the baby is bigger (weighing in at 2 whole pounds now!) and there is less space inside the uterus, it was harder for the doctor to find a pocket of fluid that was somewhat safe to poke a needle into. The angle of the needle was weird and had to pass through lots of tissue, and apparently that equals pain. My belly hurt for most of the evening last night, but I woke up this morning feeling completely fine, so no harm done!

Thankfully, this test for the 22q11 chromosome deletion can be done in DAYS, not weeks. THANK GOD. I will sit anxiously by my phone all day today and tomorrow waiting to hear some (good) news. I should probably warn my boss and tell her if she sees me convulsing on the floor in the next couple days that she should call Dan to come cart me away.

My friend, Jodi, from high school shared a very sad story with me today. A good friend of hers, Heather, has recently had to deal with a tragic loss. Her husband died a few weeks ago in a small plane crash, leaving her and her four young children, and a baby due in January, behind. :( Please pray for some peace for her and her kids. I CANNOT imagine dealing with such a tragic loss. This got me thinking about all the things that I am sooo very grateful for. Dealing with our baby's health problems is so minute in the grand scheme of things. I don't mean to diminish the struggles that Baby will have to endure, but this is something we can and will deal with.

We have a name! We've had some inquiries as to what it is, but we aren't going to share till birth. We all know practically everything else about this baby...we have to keep something a secret! I'll give you a hint. It's NOT Horatio and it DOESN'T start with "the."

Ok, ok...I (reluctantly) promised some people that I'd post some belly pics...these are from last weekend, at 6.5 months.

Tuesday, December 12, 2006

More?? Really?

As if our weary brains haven't been littered with enough worry....

I was looking online at some stories about babies/children who are coping with Tetralogy of Fallot and noticed that a lot of the stories that involved both TOF and Pulmonary Atresia (what our baby has) also involved DiGeorge Syndrome. It is a chromosomal anomaly that involves the partial deletion of the 22nd chromosome, which can affect the baby's immune system, facial features, learning abilities and more... I did some research and found that the odds of our babe having this syndrome are about 40% or so. I called our genetic counselor to see if my amnio had by chance tested for this syndrome. Her response: "We didn't test for it, but we should have." UUGGGgggg!! At this point our options are to wait till birth to find out if the baby has this anomaly, or do another amniocentesis to find out ahead of time. I'm not big on worrying for long periods of time (although I should be used to this by now), so I am opting to do another amnio on Wednesday. Another long needle in the belly, another 10-day wait, another problem to worry about for our baby...

This is when I have my meltdown.

I thought we had rounded a corner and that we were at least done with the worrying portion of the pregnancy, but alas...there always seems to be more these days. I'm trying so hard to stay positive amidst all of this and find peace and strength to get through it. Thankfully my wonderful husband helps tremendously. Without him, you'd all be visiting me in the mental wing of the hospital instead of the maternity ward.

Our baby will have enough to overcome once he enters this world. Please pray that the heart issues are ALL he is going to have to deal with.

p.s. I hate the internet.

Sunday, December 10, 2006

News on el corazon

Friday was our 26-week ultrasound/echocardiogram and after waiting what seemed like forever for this news, we finally found out what is wrong with our baby's heart. Our little peanut has something called Tetralogy of Fallot (TOF), which is one name for a combination of four different heart defects. One of the defects, the most serious one, is called Pulmonary Atresia, which means that the heart was formed without a pulmonary valve (the valve that pumps blood to and from the lungs). Within the first week of the baby's life, he will need to have open heart surgery to put in a shunt that mimics the function of a pulmonary valve. Without this, he wouldn't survive past the first few days of life. This first surgery will be the most risky since the baby is so small and new to the world. We need to do everything we can to make sure he is born a big, healthy baby so he has the best chance of survival through Surgery #1. Luckily, we live in the same city as a very good Children's Hospital and the surgeons there do approximately 80-90 of this same surgery per year, so this is reassuring. The doctor told us that the odds are in our favor that the baby will come out of this surgery without something major long as he is born big and healthy.

At about 4-6 months of age, the baby will need to have another surgery where they remove the shunt and put in an artificial pulmonary valve. They will also repair the hole in the wall of the heart at this time, which is another one of the defects. This surgery has even better odds of being a success because the baby will weigh more and will have a better immune system. In an ideal world, this surgery will be considered the "complete repair."

BUT.....since our baby has the most serious kind of TOF (with no pulmonary valve, as opposed to a partial or narrowed valve), any "fake" valve they put in to mimic the real thing is not real body tissue, so is not going to grow with the baby. By the time he reaches the age of about 5, his heart will be bigger but the fake valve will be the same size it was when they put it in, so they will need to go in and replace it with a bigger one. Then they will have to repeat that at about age 20 and probably again later in adulthood. All of this is best case scenario, assuming no other major complications take place. Replaced (fake) valves can become "leaky" and can cause more trouble and more surgeries and may need more attention. The most important thing is that we continue with good cardiac care for the rest of our son's life.

This shouldn't limit his life much. He should be able to run around just as much as other kids and lead a normal life, as long as both surgeries go as planned. This is pretty overwhelming news, as no one wants this for their baby, but we are grateful for knowing what to expect beforehand. I can't imagine having to process all of this in about 5 minutes, after the baby is born, as many parents must do. We are taking things one step at a time. Our first step is to make sure the baby isn't premature and is born as big as can be. Our next step will be to get through the first delicate surgery, and so on....

Why this has happened we do not know. Sometimes genetics play a factor, but sometimes it's just a I guess we just figure we're one of the chosen ones! Only ~2 in 10,000 babies are born with this disorder.

PLEASE keep Baby Porta in your prayers. We have another ultrasound in 8 weeks to see if anything has changed, and we would be so happy if there were slightly better news by then (like if the pulmonary valve were at least partially formed instead of non-existent). Dan and I are so grateful for all of the good energy and prayers that have been sent in our baby's direction in the past few weeks. Baby is so special to us and we are so excited to meet his sweetness. We would not change a single thing about him!!

We will keep you all posted.
Love, Megan & Dan

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.