Genetic Doctor

December the 10th, 2012 we set off to Vanderbilt at 8am to find out if Callie can be officially diagnosed with BOR syndrome. I will say in all the appointment we have had , they all we are in really fast. This appointment itself took forever but only because they took our whole family tree. They needed to know if anyone on either side had any characteristics of BOR syndrome or any other syndrome for that matter that would explain the birth defects that Callie was born with. Of course, we already knew that no one had anything even close to resemble what out poor daughter was born with. In fact, both sides of our families are really healthy in that aspect. Yes, we have some diabetics and even a few that have dies of cancer. but no birth defects. After taking a full medical history on Callie and taking our whole family tree, they concluded that if Callie did indeed have BOR she had a spontaneous case of it. My husband and I will still need to be tested just to see if we are carries but the doctor doesn't believe we are since there is no family history. Now lets talk about this test. Of course genetic testing is not always a sure thing. In the aspect of science, it is still a new thing but this test is only 40% accurate. So we are putting our hope and faith in a test that may not even tell us what we need to know.  If it comes back positive, she has it no doubt, but if it comes back negative, there is still a possibility she has BOR syndrome. Go figure! My husband actually debated not putting her through another blood stick, the baby has been stuck a lot in her short life, but we decided it was worth a shot to have some answers, hopefully.
 Now some other information about this condition is... reflux.. Why? They have no idea but a lot of children with BOR syndrome have  reflux. Something about how their necks are formed especially the children that have the clefts. So all along she has been treated for acid reflux and been on all these meds and it could be because of this syndrome. Granted the meds can and still do help but since that's not whats causing the problem it won't completely go away until we have the cleft fixed.

We are suppose to go back to Vanderbilt in three months to find out the results of genetic test. It is going to be a long three months for us but hopefully we will find out something. Don't worry I will update much sooner then that. Life it always interesting around here. Maybe I should write about how breastfeeding is not so easy lol.. just maybe?