Time to bring everybody up to speed

Krystal and I originally started this blog as something for the two of us to do to journal our thoughts as the pregnancy went along. We didn't have any definite plans to open it up to others to read, and as you can see by the existence of just two previous posts, we didn't exactly stick with it. At this point though, we feel the need to resume posting to the blog, as well let everyone know about it so you can follow along.

There's been a lot going on over the past couple weeks with still more information to come over the course of the next month. We've been asking for prayers from people directly, posting that desire on Facebook, and family and friends have passed the word on that prayers for Krystal, our unborn baby girl, and myself are greatly appreciated. That may be everything that some of you know about what is going on, others have a more specific idea either from talking to us or our family.

This post will lay out everything that we know right now, our current impression of what it means, and what information we hope to be learning over the coming weeks. We hope to do a better job this time around of keeping things updated. With so many people out there keeping us in their thoughts and prayers, we want to keep all of you informed about what is going on as a thank you. So here goes...

Last week (Tuesday) at our regularly scheduled follow-up visit we also had our scheduled second-trimester ultrasound to check the growth and development of the baby. We had had an ultrasound about 3 weeks prior that determined girl, and we certainly hoped this would confirm that. While it did just that, we unfortunately also found out that there were some problems found. After the tech was finished, we were brought back to the doctor's office, and our OB came in to talk to us about what was found. She told us that the baby only has a 2-vessel umbilical cord (normal is 3), she was about 3-4 weeks smaller than expected, only 1 kidney was seen, and the tech did not see a stomach. That constellation of findings made her concerned for a genetic problem, possibly a trisomy, and she let us know that she was going to refer us to the Maternal-Fetal Medicine specialists at UAB for further evaluation and possible amniocentesis. This was late in the afternoon, so the referral wouldn't be able to be faxed in until the morning, and we had to wait to find out how quickly we would be able to get an appointment at UAB. Fortunately, we received a call early the next day with an appointment for the following week. Yesterday, to be more exact.

So yesterday morning we went to UAB and got yet another ultrasound. After lots of prayers from lots of people, we were excited to see the tech find both the stomach and the 2nd kidney. When the doctor came in to do her own scan after the tech was done taking measurements, however, new problems were discovered. Sara Kay, as we've decided to name her, still measured about 4 weeks small and has developed with malformations in her brain and in her heart.

The malformation in her brain is known as a Dandy-Walker malformation. It is a problem with the cerebellum at the back of the brain with one part being underdeveloped and problems with flow of the fluid around the brain and spinal cord that can cause an increase in fluid and pressure around the brain. It has a broad spectrum of presentation, anywhere from asymptomatic to severe debilitation.

The malformation in her heart will require further evaluation, however at this point it appears the most likely diagnosis is called a truncus arteriosus. This occurs when there is a failure of the single great vessel to divide into separate pulmonary artery trunk and aorta. It is accompanied by a ventricular septal defect allowing the blood to flow from both the right and left ventricles out this single great vessel, then separates to the lungs and the rest of the body. Thankfully, this can be surgically corrected soon after birth by placement of a patch to close the VSD, the single great vessel functioning as the aorta, and a graft with a valve being put in place to connect the pulmonary arteries to the right ventricle.

With the presence of both of these, the small growth, and the 2-vessel umbilical cord, we made the decision along with our doctor to have an amniocentesis done, to evaluate her genetics and try to gather more information about what could potentially be causing these problems.

We should know some preliminary results from the amniocentesis, hopefully, tomorrow. These early results will tell us if there are any major defects, like missing/extra chromosomes or large deletions. The results of the full analysis will take two weeks to get back. Once that is done, we will follow up with the MFM specialist and begin setting up a pediatric cardiology referral to further evaluate and diagnose her heart condition via fetal echocardiogram. In the mean-time, we wait and continue our routine care with our primary OB who has been wonderful and called us at home yesterday to find out how the visit went.

Again, we would like to thank all of you for your prayers so far. We know some have already been answered, as we now know that she does have both kidneys and her stomach. Now that we have a better idea of what is going on, we'd like to ask you to continue to pray for us and to specifically keep in mind Sara Kay's heart, brain, and growth. We need her to be good and strong when she is born to speed up how quickly she can go to the OR and have her heart fixed.

Thanks again, and feel free to post any comments and/or questions.

~Todd