Diagnosis #2

As we drove to Ann Arbor this morning, I felt completely prepared for what we would find today. I was prepared to be told we needed an amnio done sooner rather than later, instead we were told one wasn’t necessary if we didn’t want one. I was prepared to be told about termination as an option, the word was never used. Emotionally over the last few days I have been preparing myself for a daughter whisked away at birth, tubes and machines surrounding her, a month long NICU stay 2.5 hours away from our home, and I even told my husband how I was preparing my heart to be ‘that parent’ in the NICU who would pray for and with the other parents…to be ‘that parent’ who God would use to bless other parents and to share our faith and hope with other parents going through the most difficult time their lives. I did my research, I watched all the videos about Alayna’s condition, I knew this was a big deal, but I was hopeful considering the extremely positive survival rate of her needed procedures/operation. I was ready.

I really should learn not to prepare myself for anything because if there is a rare statistic to be found, we will find it…or it will find us.

The morning ultrasound went much like we expected. It was fun to watch Alayna toss and turn like a wild woman on the loose…she was so active. The fun continued through the fetal echo. The doctors would just find the right view of her heart and then she’d move. She liked to lay with her back toward the front of my stomach and then crunch her arms and legs in front of her – completely concealing her heart. This was great fun for the doctor who kept explaining how difficult it is already to pin point a picture on such a small and moving target, let alone one in this position and as active as Alayna. I joked that I guess she’s already trying to keep up with her big sister who would kick me until I moved if I wasn’t in the right position for her. I had even been known to get up and walk at night just to ‘rock’ Jessica to sleep so that I could get some sleep/relief from her kicking me. Anyway, the fetal echo took forever…but I assumed it was because of her position and wiggling.

Ok, go time. The pediatric cardiologist declared us done with the exam and brought us to a room to discuss the findings. We sat at the table and she asked us what we already knew. I grabbed my notebook and started recounting all of the information we were given Tuesday. Transposition of the Great Vessels, VSD (hole in her septum), heart lying midline instead of left, possible double outlet, everything else normal, etc. She smiled and said she was going to start at the beginning with what she found. This should have tipped me off to something being very different. She began explaining the anatomy of the heart from the beginning…not a whole lot of new info for us after our recent research. Then she grabbed another piece of paper and began explaining how Alayna’s heart was different. Yes, there are the transposed arteries running parallel instead of crossed…still nothing new. She explained how the transposition of the arteries would cause the blood to flow incorrectly. I’m still following, but I was not prepared for what she said next. What she was seeing differently from our initial fetal echo was that the left and right ventricles were also switched. Because both the arteries and the ventricles were switched, essentially the blood was flowing correctly. She continued explaining what this meant for Alayna at and after birth. As the words slowly began sinking in I had to stop her and confirm what I thought I was hearing. “Are you saying that she is NOT going to need immediate intervention at birth and that she is NOT going to need immediate open heart surgery within her first week?” She stopped, looked us in the eyes and said “Yes, that is what I’m saying.”

I could hardly contain myself as I tried to sort out my emotions. Was this the miracle for which we had been praying? This was so different from what I had prepared to hear…and I could tell that the conversation wasn’t over. There was a ‘but’…

Alayna’s condition is termed “Congenitally Corrected Transposition of the Great Arteries (CCTGA)“. Here are a few excerpts about her condition from the Children’s Hospital of Philadelphia website (because they explain it better than me):

“CCTGA is a rare heart defect. Only 0.5 – 1 percent of all people with heart defects have CCTGA. This means there are about 5,000 – 10,000 people in the United States with this condition.

In this condition both ventricles (pumping chambers) are reversed and the arteries coming off them are inverted as well. The end result is paradoxically a blood flow pathway which is normal. This led to the confusing term “corrected” for a complex malformation in which the heart is far from being normal.”

“In a normal heart, the left-side pumping chamber (left ventricle) sends blood to the entire body, whereas the right-side ventricle pumps blood only a short distance, to the lungs. The left ventricle is built stronger than the right ventricle, because it has to work harder.

In congenitally corrected transposition of the great arteries (CCTGA), the heart twists abnormally during fetal development, and the ventricles are reversed: The stronger left ventricle pumps blood to the lungs and the weaker right ventricle has the harder chore of pumping blood to the entire body.

This can cause problems, particularly for the right ventricle, which must work harder than it was meant to. For many patients, in the long run, the ability of the right ventricle to continue to function effectively will determine how well they are.

Let me say that last part again “For many patients, in the long run, the ability of the right ventricle to continue to function effectively will determine how well they are.” There’s the ‘but’.

Yes, assuming this new diagnosis is correct and there are no other issues that we discover, Alayna can be born without additional medical intervention, without the NICU team whisking her away, without needing open heart surgery within that first week…but what about 5 years from now, what about 10 and 20 years, what about 80 years? How long will that right ventricle hold up? There are so few known cases of this defect that nobody knows that answer. Here is also where things get really complicated. With a normal transposition of the arteries, an ‘arterial switch’ operation would be required to correct the blood flow. In the past (prior to when they started the arterial switch operation about 20 years ago), rather than switching the arteries, they redirected the blood flow between the chambers. This was called the ‘mustard’ operation. If you combine both operations they call it a ‘double switch’ operation. Essentially this reverses both the arteries and the chambers back to how they are supposed to work. This is a very complex operation and it is relatively new (10-15 years), and we therefore do not have any long-term experience related to its outcome…oh, and its survival rate is lower than a regular arterial switch because of the added complexity. Aside from the survival rate being lower than a ‘normal’ arterial switch, we don’t know how it will hold up in 80 years any more than we do the regular arterial switch operation. On the flip side, Alayna’s condition is so rare, we have little experience in understanding the long term affects of NOT doing the operation. And if life were not complicated enough, major heart defects (such as Alayna’s CCTGA) are usually accompanied by additional defects, thus making every case unique in and of itself.

Speaking of additional defects – what about that VSD? They didn’t see one today.

Back to CCTGA: Essentially we have to wait and see…and by ‘see’ I mean keep Alayna under close and frequent observation until and after her birth. Currently her heart is showing no signs of distress or abnormality other than the CCTGA. IF her right ventricle shows any real signs of distress (leaky valves, etc), then the suggested route would be that double switch operation. If her heart continues to show no signs of distress or abnormality, it’s possible that doing nothing is the best route. And the last ‘however’: while it is easier to operate on an older/larger patient, the success rate of the double switch operation drops over time (although early childhood tends to be recommended over infancy in most cases). As a child grows into adulthood, the heart becomes more and more used to doing things incorrectly that correcting it becomes less and less successful. In other words, if we don’t do it soon enough, the damage could be irreversible.

Is your head spinning? Ours too. We’re at a loss and thankful no decisions need to be made immediately. In spite of what was said at each of my appointments what I heard was this:

1st Ultrasound – your baby isn’t going to survive due to a big and unusual problem with her heart.

1st Fetal Echo – we know what’s wrong and we’re really good at fixing it.

2nd Fetal Echo – in all the ways you can screw up your child long term, we’re going to add another one…and this one could have fatal consequences no matter what choice you make.

We’re thinking of starting a vote. Not really. Please pray for wisdom for both us and the doctors as they monitor Alayna and continue advising us on our options.