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?

Thursday, April 12, 2012

Easter 2012

Easter this year was very last minute, literally everything came together in about 2 hours or less. But the one thing taht we did have planned was to take Emmaliese her Easter basket early in the morning. The whole family got together and we went to visit our angel and to decorate her grave ( we are still in the process of getting her a headstone) and to take her the two easter baskets. One from her daddy her sister and muslef and the other one from my sister Laura her husband and their baby Isabella. We spent about an hour with her, and it was bittersweet because honestly here we are celebrating easter with our baby girl at her grave when we would have given anything to have her home with us. And to top it all off Emmaliese would have turned 4 months on Easter.Anywho we got some really nice pictures of us spending Easter with her. And after that we had brunch and the started getting things ready like crazy because we had family coming over. We did the usual BBQ and we had the kids open their baskets and while they did that we had other family members hid the eggs for the kids. Nathalia was super excited since she found 54 eggs,she was the top egg finder!!! So all in all Easter sunday was a good day, I managed to only cry a few times. Hope everyone had a good Easter!! *****Warning picture overload coming up******
A close up of Emmaliese's cross all decked out in Easter stuff.

Emmaliese basket, Minnie's tummy smells like chocolate!

My girls baskets.

Nathalia <3

My husband, Nathalia and I.

Nathalia and my beautiful niece Isabella. I love this pic! I know that
Nathalia would have been a great sister!

She found another one!

Wednesday, April 11, 2012

1 in 4 and 25%

I have been meaning to write this post since last week but for some reason I have been putting it off but since Easter came and went and I have some really nice pictures I thought I should stop being a lazy butt and get to it since I want to share our Easter pictures with you all.

So here goes...As you know in a previous post I told you how we had gotten our test result and had an appointment with a genetic counselor on May 14th and how it felt like forever till that day. Well two things have happened since then (well a lot actually but 2 that have to do with that post) One is that on Friday I got a call telling us that there had been a cancellation and that if we wanted to we could be seen earlier. Of course I said we would take it, so now our appointment is next Monday April you can imagine I'm scared, nervous and anxious.....especially since this is the second thing; while reading a blog I came upon a couple who were also dealing with Surfactant Deficiency ABCA3 and they both were carriers just like my husband and I. And they were told that they had a 1 in 4 chance of this mutation happening in every pregnancy. Yup 25%. They have decided to go thru invitro or adoption since sadly they have lost two beautiful babies to this deficiency. So now I'm left wondering what should we do? What will we do? Will our counselor tell us something different? Will we have a higher risk? We have already been blessed with one healthy, beautiful, super intelligent daughter should we just be happy and content with her. Even though she wants another baby brother or sister.And so do I, I want to be someone else mommy! I have been told that if we do decide to try again at 10weeks gestation I can get tested to see if the baby has this mutation or not. But then comes the question if this baby does have it what then? Do I terminate, because honestly am I strong enough to go thru the whole pregnancy and in the end have the same result as with Emmaliese? I think part of me is getting ahead of the situation we still haven't gone to our appointment we don't know what the genetic doctor will tell us. But part of me whats to be prepared. I'm scared to be told that we cant have anymore babies. I will keep you updated on how our appointment went. Wish us good luck!!