Sunday, January 20, 2008

Ultrasound City



At this point, I began going to Duke for ultrasounds apox. every 2-3 weeks. Since none of the doctors knew what to expect they offered a couple test to try and help see the chromosomes better. AT Mt.Sinai University in NY,there was one particular test that set us back several hundred dollars.We felt the need to try this to find out what we were dealing with to help us make the best decisions and know what to expect. (Little did we know that we would spend the next two years trying to figure this out.) This particular test called the CHG, was the most advanced test to see if there was any parts of the chromosome missing(called deletions) or extras(called duplicates). The results showed neither and gave us an 80% chance that there would be NO problems. ( What a plan GOD had for us!!!) Who wouldn't like to go to Vegas with those odds?So we proceeded to go to genetic counseling, even though it seems all I did was cry. The counselor was very reassuring and good at explaining that it was nothing we could have done to change this. I was worried "Did I take too many Advil or maybe I should have been better about keeping up with those damn BC pills". That wasn't the good part, you should have been there when she asked us " is there any chance you two are related?" Of course I replied" Yes, we are married." The counselor said,"No, I mean like cousin, sibling, etc." And yes, she has had all of the above imaginable.So after that I decided to make the best of our situation and try to research this rare problem all I could. How it happened, why this occurred, what did others look like that had such a chromosome abnormality, what was the life expectancy? Wondering what I found? NOT A THING, zilch, zero, nada, nothing. I kept forgetting that Drake was the ONLY one in the world with this particular chromosome abnormality. This seemed to be the beginning of finding out the extreme rareness of it all and everything isn't so cut and dryLet me go back a little bit and explain what exactly A Complexed Balanced Translocation is. In the world of chromosomes every one has 46. 23 from the mother, 23 from the father. At conception Drake's decided to rearrange them little selves differently (called denovoed). In a typical "translocation", it occurs with only two. It's sort of like two pens switching tops. The counselor said this happens quite often and people don't even realize it. As long as there is nothing missing or added there shouldn't be any problems.(that is where the 80% chance no problem came from) With Drake he has 3 chromosomes involved,#1,4,&14. With out a picture to show, these 3 little buggers mixed themselves up and put themselves back together again. Think of 3 pens broken in about 5 different places and while mix/matching taped back together.So the counseling continued throughout the pregnancy, just to say what great parents we are.(like we didn't know this) The Duke doctor held several Level 2 ultrasounds(really cool 3D pics). They wanted to keep an eye on his growth from his head to his toes. I held my breath every visit and every visit showed a perfect(which he is) baby boy. They even did an electrocardiogram on his heart. It seems a lot of people with chromosome problems have heart trouble. Not Drake, once again, perfect!With that sigh of relief, we were ready to have a baby!!!(keep in mind aprox. 20 weeks have gone by since all this started)Now don't get me wrong I cried myself to sleep several nights. And some say why would you want to know or it's better not having that stress on yourself and the baby. For me and Shane we wanted to know! We wanted to prepare and know the facts. Little did we know, how little we didn't know.But it made us feel better, It made us stronger together. I can look back now and still to this day know I would have done the same thing!!!!!!!!!!

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