With this being our first post, I want to make sure everyone is up to date, so I will start from the beginning. Just a warning, it's a lot of information...
Back in October we opted to have AFP testing. AFP stands for Alpha-Fetoprotein. It's a protein the baby produces, and all they have to do for the testing is take my blood and test it. If the AFP levels are higher then normal, it can mean a variety of things from the expected due date to the baby could have spina bifida, gastroschisis, and possibly chromosome problems. Our primary doctor called and levels were elevated, so she was going to send us to meet with a specialist.
On November 2nd we went and meet with a genetic counselor first, went over what we could possibly be facing, and then we waited for our ultrasound. The tech did her thing, and then the doctor came in. Thinking we could possibly be facing spina bifida as the worst case scenario, we were not in the least bit prepared for what came next.
The doctor started his list. First he saw the in fact Anabelle's intestines are outside her abdomen, leading to why the AFP levels were so elevated. Then he noticed her feet are clubbed, said she is missing her knee caps, and her arms don't move correctly. Also, she was measuring about a week smaller then she should. The position she was in made it difficult for the doctor to see everything he needed, but he also said that he had a concern about her heart, but wasn't sure. With this, we decided to have an amniocentesis performed, which I was not ready for! Regardless we had the amnio, and waited 8-10 days for the results. They tested Anabelle's chromosomes for any abnormalities, specifically Trisomy 18. We got the results back, and they couldn't find anything wrong with her chromosomes.
Next we did a test for the Rh factor we have to deal with with any pregnancy due to the antibodies in my blood. When the test for this, they also did a test called a Microarray. Both tests were done using the amniotic fluid they took from the amniocentesis. The test just came back on Monday. Anabelle does have at least one little c. This means if the antibodies in my blood become strong and smart they can attack the red blood cells in Anabelle's blood, causing anemia. To monitor this, they do an ultrasound and tract her blood flow in her brain. Luckily, so far that doesn't seem to be an issue. As far as the Microarray goes... what they test for is strands in the DNA that are incorrect. They also test to see if there is any additional or missing pieces of any chromosomes. Unfortunately, they usually have about only a 10% success rate of finding anything and we were part of the 90%. They found nothing wrong, which is good, and bad. It's good because it shows that there isn't a big chromosome issue, if any at all. But bad, because now we have no idea what to expect. There is no further testing they can think to do now, and we will just have to wait and see how things go.
Today we had our follow up ultrasound to tract Anabelle's growth and check her blood flow.
Today we learned that her knee caps might come in time, we will just have to wait for a definite answer with time. Also, it appears her growth is slowing down, and she is about two weeks behind now. The doctor said that she doesn't expect that to improve, but rather get worse. Also they could she her arms and hands a little better, and they think her wrists and hands are turned in. (Imagine trying to touch your fingers to the inside of your forearms.) She also said that she believes she might have a hole in her heart, but is unsure, so she is going to have us meet and have a consult with a cardiologist. Next, she said she wasn't sure if she could see the aorta. We got a chance to ask all of our questions, but unfortunately without a diagnosis, there are not a lot of answers available. There is nothing I can do or take to help her in any way, we have no idea what to expect, we don't know what can be operated on, etc etc.
With all of this said... We will be delivering at UCD, and will be having a consult with a neonatologist from UCD.
We will be having ultrasounds every two weeks to check her blood flow and growth, and I will keep everyone posted.
We will try to post something every couple days. We'll try to keep everyone posted on what is going on with us and our family. Again, thank you all for your continued support and love.
With love,
The Polks
