Tuesday, April 17, 2012

Our genetic appointment

So yesterday my husband and I went to our much anticipated genetic appointment . And we didn't have to wait forever to be seen ,because don't you hate having an appointment and being on time and yet you still wait for what seems like an eternity to be called? We were taken in an since I'm a patient (even tho it was a consult not really getting anything done) I was weighed :gasp: I weigh 164lbs and measured but I didn't see how tall I am even tho I believe I am 5'3.  I was looked over for any physical differences( you can just imagine the fun my husband had with this)everything looked good and we started our consult.Any high blood pressure, diabetic etc? Nope, well i had high blood pressure towards the end of my pregnancy with Nathalia but no I am not diabetic. Ever been admitted to a hospital, besides labor? Once for dehydration? Any particular reason besides being outside for a long period of time? Nope. High blood pressure? Nope. Taking any medication? Only birth control.  Is there any family history of any genetic disorder? No, Emmaliese was the first time anyone in our family went through something like this. Got all that out of the way and we started to talk about our reason for being there. Emmaliese. We went over our test result, Emmaliese tested positive for a ABCA3 Surfactant Deficiency which then prompted us to get tested and our test results showed that both my husband and I carrier the gene. We will never know why Emmaliese's case was so severe when other babies who are born with it have milder cases, some even get lung transplants. Our probability with each pregnancy is 1 in 4 that the baby will be affected like Emmaliese a 2 in 4 that the baby will be a carrier but not affected and a 1 in 4 that the baby will be normal (not a carrier and not affected). So we have a 25% chance of having a baby who will be sick. if we do decide to try for another baby we have options of getting tested. I can  tested at 10-12 weeks by Chorionic villus sampling (CVS) or later on with Amniocentesis. We can adopt or do Invitro using our own egg and sperm, but both those options are expensive but would in most cases guarantee a healthy baby. Nathalia has a chance of being a carrier but is not affected. We will do testing for her later on when she is older. This is something that she will need to know when she is ready to start her family. If she is a carrier she of course has the chance of passing it on to her children and will only have a baby affected by this if her husband is also a carrier. We got a lot of information and we have a lot to think about. What would you do?

1 comment:

  1. good morning or afternoon? im hosting a bloghop on tuesday's and will love if you nice to share with others...thank you if you do...the lord love friendship