We were so shocked about finding out about the twins, but as the week went on we were really getting used to the idea of it all. Last week Monday I had my 20 week dr's appointment and we got some news from our ultrasound that we didn't know how to take. Our daughter appeared to be healthy, but our son's u/s showed something wrong with his kidney's, heart, and brain. We weren't sure what to think of this and we weren't given very much information about it either. All we were pretty much told is that were needed to be referred to a specialist for another ultrasound. Needless to say, the last week was pretty rough. The next day the specialist's office called to schedule my appointment for the following Tuesday, which seemed like way too far away.
Yesterday was our appointment at the Maternal-Fetal Specialists. We got there, filled out a bunch of paperwork. I gave my pee sample, got weighed and had my BP checked. Then I went into the u/s room. We went over the concerns that the other ultrasound found and started looking at our son. We soon found out that our son has spina bifida. It doesn't appear to be a horrible case. The opening on his spine is at the sacral region near his tail bone. There is not a pocked of fluid/nerves (a mengiocele) present, so I feel that is a good thing. This is the cause for not being able to see the cerebellum on the previous u/s. Apparently the pressure with the spina bifida causes that part of the brain to look a little bit different. The kidneys checked out to be just fine. We also found that there was a ventricular septal defect with our son (hole in the heart). There were a couple of other issues with the heart that the doctor thought could be Tetrology of Fallot.
We discussed the findings with the doctor and she is concerned that there is the possibility of a chromosomal abnormality since there are 2 separate systems involved. There is possibility of such abnormalities like trisomy 13, 18 or 21. The only way to learn if there is a chromosomal issue is to do an amniocentesis. So, Tony and I decided that it would be the right decision to go ahead and do the amnio. I was worried because there are some risks involved such as infection, preterm labor, etc. But, in order to make the decisions that we need to it was necessary to do this test. Afterwards, they hooked me up to the monitor to watch for contractions. I only had 1 afterwards and have been taking it easy since then to make sure not to trigger anything. We will get the preliminary results back hopefully by Friday (those are 98% conclusive), then the final results will take 7-10 days.
I will definitely be relieved if there is not a chromosomal problem. Looking up online, there are distinct things with this syndromes that baby Anthony does not have, which gives me some hope. He doesn't have a cleft lip, no clubbed feet, and he opened his hand for us (clenched hands are a sign of Trisomy 18). Also doing some research about spina bifida, there is a connection with congenital heart defects. These next days will be very scary, not knowing what to expect, but we will get though it.
Once we find out the chromosomal test results (if he doesn't have one that's good because most of them are not compatible with life), we will have a lot of preparation. The doctor discussed that Anthony will need to have surgery done by a pediatric cardiac surgeon at the U of M. I am sure this will involve meeting with the surgeons before he is even born. My guess would be that I would need to deliver the babies at the U of M as well, but I just don't know enough about things yet.
We are crossing our fingers that there will not be a chromosomal abnormality. If that is the case, then these 2 issues Anthony has can be repaired with surgery. Please keep our family in your thoughts and prayers as week go through these next days. This is going to be a very hard journey no matter what, but we're just hopeful that we don't have to deal with the chromosomal issue on top of it.
