Showing posts with label Ambry Genetics. Show all posts
Showing posts with label Ambry Genetics. Show all posts

Monday, May 2, 2011

Second Trimester and National News

This week is an exciting week for us in "baby land". We are going to be 14 weeks pregnant tomorrow (Tuesday) and therefore are officially in the second trimester. Quick side note: I keep finding different definitions of when the second trimester officially starts, but 14 weeks is the latest I've seen, so that is what I went with. Anywhoo...I'm thrilled that we are officially out of the "danger zone" that is the first trimester, and we are now allowing ourselves to get fully excited. Well, to be honest, I was pretty fully excited, but I kept trying to remind myself that I should remain a bit reserved until the second trimester mark.

Now starts the "fun" part of pregnancy, or so I read. Supposedly the second trimester is the easiest and the most comfortable. I haven't had any real morning sickness, so I think I'm probably in the lucky bunch that made it through the first trimester happy and comfortable, so this will likely be more of the same for me. I will say, the one thing I'm hoping the second trimester brings is a balance in my hormones, in the hopes of clearing up some of this raging acne I'm experiencing. It has steadily gotten worst over the last 7 weeks or so, and is full blown now. It's a bizarre really - a ton of acne all over my jawline and cheeks. And the worst part is that it itches and burns at times. I'm hopeful that my body will begin to stabilize and my face will steadily clear throughout this trimester, but I'm not holding my breath - my new "friends" may be here to stay until after little peanut is out of my belly. If I can push my vanity aside, we will post pictures of it - and considering Ronnie keeps saying "MAN WE NEED TO TAKE PICTURES OF THIS", my guess is that pictures will be up at some point soon.

Back to the awesome parts of this pregnancy. I am starting to get a little more of a belly (pictures will be posted in the next few weeks, once there's more growth). I'm excited to start showing. Right now it's just big enough to look like I could be pregnant, but not quite big enough that anyone would be confident enough to ask when I was due. Now I'm just counting down the weeks until I have a legit belly, and REALLY eagerly awaiting the day that I can feel our little peanut moving. In the meantime, I'll wonder if every tummy rumble and gas bubble (is that TMI?) is the first little feelings of peanut moving.

And on a totally different note, I feel the need to at least mention the major headline of yesterday. Ronnie and I watched the breaking news of Bin Ladin's death most of the evening last night. Now let me first say, I am not into politics - so I won't get political on you all today. But I will say a few things. First, I think it's great that after 10 years, we finally found him. I am especially thrilled that this day has come for the families affected by 9/11 and for the all the troops that have worked towards this moment. Second, I was pretty impressed by Obama's address. Whoever wrote that address did a really good job. I can't imagine the pressure of having to write something like that in just a few hours time. The thing I liked best about it, is that I think it was very mindful and geared toward an international audience. Anywhoo, I'm no political analyst, just felt like I should at least acknowledge the big current event!

**BE SURE TO WATCH HAWAII FIVE-O TONIGHT ON CBS. THEY ARE TALKING ABOUT SURFING, SALT WATER, AND CYSTIC FIBROSIS. WE ARE SO THANKFUL FOR OUR FRIENDS AT THE MAULI OLA FOUNDATION AND AMBRY GENETICS FOR GETTING CF TO BE WORKED INTO THE SHOW. GREAT AWARENESS!!!

Wednesday, November 24, 2010

The (CF Full Panel) Results Are In!!!!

Alright, it's the moment we've all been waiting for...ok, Mandi and I. We just heard back from the nurse with the results from our CF Full Panel to see if Mandi was a carrier or not of the CF gene. Without further adieu, Mandi is....



And who doesn't like my Chinese pajamas?

Tuesday, November 23, 2010

Partial Results...Or Lack Thereof

*Mandi Tuesday? Doesn't quite have a ring to it - but I have a little update, so it's Mandi Tuesday :)

We caught wind that my carrier test (the full panel screen offered by Ambry Genetics) had results posted on Friday (get the back story here). This meant that yesterday (Monday) we surely should have heard something. After patiently waiting for all of 30 minutes after hearing the results had been posted, I called my doctor to see what they knew. They hadn't received anything. I proceeded to call Ambry. They told me they had "partial results" as they only had the results from the "first part" but won't have final, signed, official results until the end of next week when the second part is complete. And while the sweet girl on the other end refused (even after many pleas) to tell me the results of the first part of the test that were posted, just knowing they had moved onto the second part was enough to get my hopes up.

Watch this video to see why, hear my thoughts...and watch Ronnie attempt to make me cry!


We'll keep you posted! I'm sure with more videos of Ronnie capturing the "raw emotion" as he likes to call it. Looks more like capturing greasy hair and pimples if you ask me :)

Monday, November 15, 2010

Carrier or Not - That is the Question

Two Thursdays ago, we had a knock at our door and when we opened it, no one was there. But at my feet, I saw a little white box. A white box that seemed to be holding a big part of my future in it. A little white box from Ambry Genetics. It was the box that held a tiny little vial, for me to fill up with my blood, and send off for the full test (read: the most extensive test there is today, testing for 99% of mutations) to see if I am a carrier for CF. As some of you may have read in previous posts I don't yet know if I'm a carrier for CF, as Ronnie and I were waiting to have me tested.

What does it matter if I'm a carrier you may be thinking? One word: Babies. We know we want to have children. And there are a TON of ways for us to start our family, but the way that we have to go about creating our family really depends on if I'm a carrier. We'll write a longer post later regarding some of the meat and potatoes that go into the following statement, but for the sake of keeping this post short(ish), I'll just make the statement for now: Ronnie and I won't have biological children if I'm a carrier. The main reason - we're not willing to take the risk of having a child with CF.

Needless to say, I'm pretty nervous and excited about getting the test results back. I'll be really honest. I'm hoping that I'm not a carrier simply because it leaves us with more options. I feel pretty comfortable with all of the options that are out there, but being a carrier somehow feels like instantly there are a few doors shut which to someone that wants to be a mommy really BAD, hurts a bit. So we shall see. Again, in another post I'll go into all of my emotions around all of our options, but we're not there yet :)

Once we know if I'm a carrier or not, we'll start to process through all of our family making options. As I'm sure many of you know, there are a TON of ways to create a family for a CF couple (which I guess I should mention, we've already ruled out the natural, "oops I'm pregnant" way based on a test Ronnie had done years ago), from IVF to adoption and pretty much everything in between. Again, we'll dive more into all of our thoughts on each option at a later date, when we actually get to that stage in the process. For right now, we are just getting past step 1.

We know that it can be a LOOOONG process for CF couples to create their families, and we're ok with that (ok, Ronnie's more ok with it than I am...but I'm bracing myself). We don't want a baby tomorrow or even in the next 6 months. But we know that whatever route we're going to take, we'll want to carefully and prayerfully consider it. So this is just our way of arming ourselves with all of the facts before starting the process of researching, investigating, praying, and visiting doctors or lawyers.

We took some videos so you could be a part of the process. It was surprisingly easy. You just go to the Ambry Genetics website and request a test. It shows up in the mail. You take the box (with blood vial inside) to the doctor. They fill out a form. You fill out a form. They take blood. You take a pre-addressed and paid for envelope to FedEx with the box and blood inside. You hear back in 15-35 days.

Tomorrow is day 15...