Baby news - taking the good with the bad

So, the fun news is we had another ultrasound on Wednesday. On my way to pick Chad up from his job to go to the appointment, I felt for the first time what I finally knew for sure to be the baby kicking or moving. It was amazing! I was so excited to feel it move on the very day we were going to find out it’s gender. And we’ve been so anxious to find out if it was a boy or girl so that we can really start looking into baby names with confidence. Well, the ultrasound was very clear in the gender department. It’s definitely a boy!

See, it's a boy! XY!

Here's his little foot!

And here he is!

And now, for the bad news: The ultrasound was also very clear that our baby has a congenital heart defect. Unfortunately there is no question or mistake about this fact. The ultrasound doctor (Dr. Bobrowski) told us immediately after the ultrasound that they didn’t like what they were seeing with the baby’s heart and that she wanted to send us to see a Pediatric Cardiologist who could better determine what they were seeing and give us accurate information. So, in a panic and a daze we rushed over to St. Luke’s hospital where we met with Dr. Womack. Unfortunately, after doing his own lengthy ultrasound on the baby’s heart, he confirmed the existence of the heart defect.

Dr. Womack explained a lot of things to us: At this stage the baby’s heart is only about 1cm big (that’s tiny). For this stage in the pregnancy (18 weeks out of 40) we are getting a very good view of the baby’s heart, however, it is still too tiny and too early to establish exactly what the problem is. At this point Dr. Womack thinks it is most likely one of two possible diagnosis: Truncus Arteriosus or Tetralogy of Fallot (possibly with Pulmonary Artesia). If you plan on looking these up on the internet – STAY ON REPUTABLE MEDICAL WEBSITES ONLY such as the American Heart Association’s site. The doctors warned us over and over about all the websites with misleading and incorrect information that will do nothing but scare us (more) and misinform us.

The diagnosis above are confusing, ‘scary as hell’ words, believe me, I know! But, essentially, what all the ultrasounds are showing is this:

A normal human heart has 4 different chambers (two atrium and two ventricles, one of each on each side of the heart). Thankfully our baby seems to have developed all four chambers and they are proportionate to one another (this is a VERY good thing!!!!!)

The problem is the two arteries (aorta and pulmonary) and how they are connected to the heart. In a normal heart the pulmonary artery attaches to the right ventricle, comes up, splits in two, and supplies blood to each of the lungs to be oxygenated. The aorta attaches to the left ventricle and supplies oxygenated blood to the body.

In our baby it appears that there is only one giant artery attached to the center of the heart. It appears that the giant artery is the aorta and that the pulmonary artery might be attached to the side(s) of the aorta somehow. Put basically, our child’s ‘plumbing is hooked up wrong’ to the heart.

Truncus Arteriosus on right (AO= Aorta, PA= Pulmonary)

Tetralogy of Fallot on right

Dr. Womack reiterated with us that the heart itself seems to be developed fine and it appears to be strong (he’d be a lot more concerned if one section of the heart was underdeveloped/smaller than the others). Our baby just has a plumbing issue that needs to be fixed. He said that as far as the heart itself is concerned, it’s been working and developing this way for 12 weeks now and there is no reason to believe that it should suddenly stop or that we cannot take the baby to full term. However, the baby will need heart surgery after birth which will have to take place in a bigger city (Salt Lake, Portland, Seattle…) that has specialty surgeons. More than likely this will happen within the first two weeks, but definitely within the first three months of life (the sooner the better actually). Remember, babies are built to do biology! Dr. Womack said a newborn baby undergoing open heart surgery actually probably has a better shot at surviving than we adults would. Biology is their specialty.

According to doctor Bobrowski, everything else in our ultrasound appears to be developing according to normal and nothing else appears to be wrong or indicating that anything else is wrong (another very good sign). It also helps that no one can think of anyone on either sides of our family that has had any major birth defects of any kind.

Side note: apparently the number one birth defect in newborn babies is heart defects (1 in 100 births), which means they have lots of specialists and unfortunately lots of practice at fixing such defects

What caused this?
There is a 96% chance that this is nothing more than bum luck and that something just went wrong in development. The other 6% chance could be a chromosomal abnormality or a genetic problem (part of a gene code being deleted). Unfortunately, if the heart defect is caused by either of these two issues it means our baby has a lot more serious problems than just a bum heart. Because we are trying to stay positive, I will not go into the ‘what if’s’ in these two scenarios. We will discuss and cross that bridge only if we have to.

So, to determine if the heart defect is linked to a chromosome or a genetic problem I had to undergo an amniocentesis yesterday. Amniocentesis is a procedure in which a small amount of amniotic fluid, which contains fetal tissues, is extracted using a needle from the amniotic sac surrounding a developing baby. From this fluid the fetal DNA is examined for genetic abnormalities. (Not as horrible a procedure as I had imagined, but certainly not fun either) The results on this test will take about 10 days. (Yeah, the waiting game!)

I am off work for the next few days as a precaution after this procedure (not a great idea to be stressed out, lifting heavy objects in the extreme heat after they’ve inserted a giant needle into your belly).

Quality of life?
If we are only dealing with a heart defect the doctors said that there is no reason to assume that our child cannot go on to live a pretty normal childhood and adult life. They said that we certainly won’t have an Olympic or endurance athlete on our hands (okay with me because being the parent of an Olympic athlete sounds like a lot of work!), but there is no reason to assume that our kid won’t be able to run around playing tag, hiking, and riding bikes with other kids. Of course, there will be physical limits to be aware of which vary differently with each child, but a doctor can help us figure these out and help us to raise a kid with as strong a heart as possible and a fun-filled childhood.

Please keep us all in your thoughts. Chad and I are doing pretty well. We’ve had some good cries (I’m sure there will be a few more) but we’ve decided that we’re going to expect this kid to be fine after a rough start at life. Think positive everyone! We truly do appreciate everyone’s concerns and support and we are open to answering any questions if we can. We have decided not to wallow in self pity and expect to continue on with life as normal. So… keep inviting us to do things, keep calling, come over, and don’t feel awkward around us! We’re strong and this kid is too dang it! (I’m not giving him any other option!)

Isn't he adorable! Looks like a fighter to me!

P.S. I feel him kick quite a bit now which is very reasuring to me.