Thursday, January 3, 2013

And We're Normal! Well Sort of...

We just returned from our meeting with a genetic counselor. Wow, what an interesting field to work in! I am such a science nerd. I totally want to go back to school and start all over with a new career now.  I could have asked the counselor questions all day long! Why did we go to genetic counseling you ask? When we found out we'd be losing our second pregnancy (before we ever even knew it was ectopic), Dr. Vaughn ran a chromosome panel on both hubby and me. Mine came back completely normal, but hubby's came back as abnormal. In fact, he apparently has a pretty rare karyotype called 45, X/ 46, XY. Yes, that is the actual name of this very rare "chromosome disorder" if you want to call it that.

I'm sure most of you know this, but each cell should have an XY combination in males and an XX combination in females. Basically, when they tested our blood, they tested 50 cells for each of us. Out of those 50, 4 of hubby's cells came back missing Y's. This means that he has a "mosaic" karyotype, because ALL of the cells are not identical; It's called a mosaic karyotype because, like tiles in mosaic floors or walls, there is more than one type of cell.

Having this karyotype can result in a lot of crazy presentations throughout life, none of which have been seen in hubby thankfully...other than the fact that he's a few inches shorter than his brother. The main concern of our RE and the counselor was that 45, X/ 46, XY is often correlated with impaired fertility in men (low sperm count, etc.) but if you read my blog, you already know this is not the case here. His counts are plenty high and motility higher than average for his age. Ok, so where does that leave us?

The genetic counselor said that the abnormal karyotype really could mean nothing at all. She said if we were to have this test done and hadn't already had a sperm analysis performed, it would have been her recommendation to do so, but clearly we've already had several SA's and all were normal. Outside of that, there is a small chance that affected cells could be found in sperm, which could produce genetically abnormal embryos, possibly resulting in miscarriage. However, as an expert, she just didn't feel this was any real cause for concern. The amount of cells found with variations was so small, and she did not seem concerned about it. We asked if it could be passed down to offspring, and while it's possible it's still just very unlikely.  We even asked if we should consider doing PGD (Preimplantation Genetic Diagnosis) or PGS (Preimplantation Genetic Screening) if we do IVF, and she continued saying, "No, it's really not necessary." She said she'd recommend that I do all of the optional diagnostic testing once I was already pregnant, but all in all, hubby's normal. Nothing to worry about fertility wise for him. Nothing more to test for. Nothing to be too concerned about, other than an increased risk for heart disease and diabetes. Strangely enough this karyotype is also associated with both of those things. It's just so fascinating how they know this stuff.

And once again, here we were talking about hubby's abnormal chromosomes and the conversation comes full circle to her concern for MY family history. I know! I know! For the love of God, I know! Blah. While we are on that topic, I may as well catch you up on things on that end...

When I saw Dr. Youman (hematologist/oncologist) recently for blood work on recurrent miscarriage, he was adamant that I dig more into my mom's family history to see if there was any more ovarian or breast cancer. I spent a whole week over the holiday tracking down information about my family history, because I'm realizing now more than ever how important it is to know this stuff. It will be important for our children to know one day too. My mother was adopted at 5 months old, and I've never known much about my maternal family history. I had met one of my real uncles a loooong time ago, and I managed to track him down to ask some questions. Talk about relatives coming out the woodwork on Christmas. Yep, that was me!

Luckily, he was the closest to the birth parents (who had a total of 8 children!) and has also been using to map out the whole family tree and has stayed in contact with some of the birth siblings. Score! I was able to find out some pretty important information, even though it contained unfortunate news. Looks like I'm adding a couple more cases of cancer to the list...

My mom's aunt died from breast cancer at age 46.
My mom's sister had cervical cancer resulting in a complete hysterectomy at age 30.

The cervical cancer honestly doesn't scare me too much, because from what I know, there aren't strong genetic links with that type of cancer as much. The matter of concern here is that when you are female and have two females on your mother's side of the family with either ovarian or breast cancer, this puts you at much higher risk for developing similar cancers. My mom died from ovarian cancer at 52 (diagnosed at age 45 with stage IIIB). I have always wondered if I was actually pre-disposed, and now I have my answer.  In fact, Dr. Youman and every other healthcare provider I've spoken with so far is recommending that I have the BRCA testing done so that I know if I'm a carrier for this cancer related gene.

If I was found BRCA positive, it would basically change my schedule of monitoring and might change decisions to keep certain lady parts after having children. Right now I'm going to simmer on that one for a bit. I may hold off on the testing until after I have children, only because there are a lot of things to consider with this testing. I'm not going to go cutting out my ovaries or having a mastectomy before I'm done having children anyways, so what's the rush? I can't do any more transvaginal ultrasounds than I'm already doing, and that's what is used to look for ovarian cancer in the first place, so I think I'm good on that diagnostic test. Oh boy, am I ever covered there. My RE really needs a reward program for ultrasounds. haha!

Outside of that, I also received the results of my RPL (recurrent pregnancy loss) testing done by Dr. Youman. Well, it's a good thing I had this test done, because I was found to have a significant blood clotting/autoimmune issue present. I tested positive for the following....

AntiCardiolipin Antibody
AntiNuclear Antibody
Protein S deficiency

The first two antibodies listed are found in people with the autoimmune disorder lupus. Usually people don't find out they have these antibodies until AFTER they've already developed lupus, and dr.'s test for the antibody presence to confirm the diagnosis of lupus (if that makes sense). In my case, I don't have signs of lupus now, but having the antibodies means that I have a higher risk of developing it at some point in life. Also, when combined with a deficiency in Protein S, it does mean that I have an "autoimmune issue affecting the lining of my blood vessels and platelets"...basically a blood clotting disorder. My blood may clot when it's not supposed to. This combination of blood clotting factors is indeed a cause for concern, because it can cause both early miscarriage and late term miscarriage. Some women have many more pregnancy losses than me before they ever do the RPL testing, only to find out they have a blood clotting disorder and could have prevented miscarriage in some or all of their pregnancies. My heart goes out to anyone who finds out they are in that boat and could have possibly done something to prevent their losses.

Luckily, there is a simple solution to having these antibodies present and preventing miscarriage caused by random blood clots. I'm supposed to take baby aspirin daily once we start TTC again, and I'm to begin taking Lovenox every day immediately once I find out I'm pregnant. Problem solved for these pesky antibodies. No, it won't be fun giving myself shots every single day while pregnant, but if Lovenox will keep my blood from clotting and help prevent miscarriage, I think I will just suck it up and follow dr.'s orders. My head is spinning at this point, and God bless you if you're still reading, but at least I'm finding out hidden issues right?

It's been quite a whirlwind of testing, consultations, and tracking down long lost relatives lately. Kind of exhausting, but in my opinion all worth it....or at least it will be. And just when I thought the fun was over, another hCG test tomorrow. Hopefully this is THE hCG test we've been waiting for...C'MON ZERO! I feel like we've been doing so much leg work in uncovering any risks or reasons for concern going forward. Closing the book on this ectopic is all we really have left to officially move on, and when we do, I feel like we'll have so much fantastic information to help us make the best decisions possible. We are leaving no stone unturned along this crazy conception path... that is for damn sure!


  1. Hope it's big ole fat zero for ya. Enough with this madness already! Sounds like you are doing absolutely everything you can and your doctors are on top of it. Hopefully everything continues to go smoothly and you are on your way to your sweet family of three (or more?!).

    My mother was diagnosed with stage IIIC 7 months before her death. She was tested for the BRCA gene so that I didn't have to be (her mother had breast cancer). So weird how similar our pasts are. Goodness. She was negative, which means I most likely am too. Still, I've had ultrasounds and CA125 blood tests at my annual each year. The ultrasound for monitoring and the CA125 to have a baseline. I have also considered ridding myself of said lady parts after I had children. (Who knew it would be this flipping hard at that point...but moving on)
    What I'm saying in my rather long rant is...good luck and thinking 'bout ya! :)

    1. Awh, Suzanne I'm sorry to hear that. I do find some peace knowing my mom was around for 7 years after her diagnosis. That must have been especially trying to lose your mom so soon after diagnosis. Big ((HUGS))

      I had the CA125 drawn about 5 years ago as a baseline, but I hadn't really considered doing it annually. Maybe I'll ask Dr. Youman about that, but from what he said it doesn't really "diagnose" cancer necessarily. I will look into it more though...perhaps changing the frequency isn't a bad idea and I'm wondering if insurance would even cover it. I know they did not cover it when I had it done 5 years ago, despite my family history.

      I actually just ordered and received my mom's entire oncology file from 1998-2005, and her CA125's were really high during times when the cancer got really bad. It was rare during that time that she actually went into full remission, but her CA125 did fall during those times. It was sad to look through her file, but also SO informative to see what she responded to, what she didn't respond to, that her cancer was extremely estrogen receptive, etc. I figure it's good to know in case (God forbid) I ever deal with it myself. Not to say there are any guarantees for things to present themselves or respond similarly necessarily, but good info. to have. If you haven't gotten your mom's full medical records, I'd highly suggest doing so!

      Now I'm on a long rant.....thanks for the thoughts and support as always!

  2. Hoping and praying for you! I got a similar diagnosis a few weeks ago...makes me terrified to be pregnant again knowing there is something wrong with me, but it is comforting to know it is some what treatable. Hoping a rainbow baby is in both of our near futures! xo

    1. So sorry to hear that Miranda. It's been a long drawn out process, but luckily there hasn't been much physical pain...mostly all emotional. I am thankful it is treatable as well and that your was caught before anything major happened!

  3. Finding things out is great! At least now you can take some action when you start to TTC again. The shots don't sound like fun, but everyone I know who has to take them gets used to them. Just another hurdle for those of us that need some help carrying to term. I will be crossing my fingers for zero! Do you find out today, or was the blood draw today?

    1. I like how easy you make it sound....just one more hurdle. I will do anything that requires sacrifice or some extra hassle or pain if it means bringing home a healthy baby!

  4. Wow! Kudos to you for going through all this and learning about all of it! Like you, I tend to find this stuff interesting. The more we can know about our bodies, the more we can take control of certain things. Hoping this leads to your rainbow baby sooner rather than later.

    1. Thanks M. Hope everything is going well with you! :)

  5. Good luck with the HCG check today. Really hoping it's all 0, you can start the baby asprin and start back up again while you plan for your next steps. I am so glad you are getting everything checked out and learning what's what. I am so confident after all of this testing that your next BFP really will be sticky. *hugs*

    1. I also wanted to add the science of everything really is fascinating and it's just amazing anyone ever gets pregnant or is even healthy with the amount of little things that can go wrong with the chromosomes and genes. The human body and life really is amazing and remarkable.

  6. I'm glad you have more information!! I hope it helps you feel more confident as you move forward :)

  7. Wow! I am amazed at how well yiur doctors are treating you. There isn't many doctors that like to take the time to find out whats going on. Sounds like you are in amazing hands.

  8. Yay Emily! So glad that your hCG is back at zero so that you can move onto the cycle that will bring your baby! And so glad that you are being so pro-active in finding out your families history. I've always wondered if that site really worked, glad that you are finding lots of helpful information that may be vital for you and yoru babies future. Also, I agree with everyone are so blessed to be surrounded by so many great doctors that are really taking the time to dig deep and diagnose your case, while giving sound, professional advice. What a blessing!

    Praying for you daily and just know that all this leg work you are doing now...will bring you to your baby that much sooner!

    P.S. Hope you and DH went out and you got to request your song! After all you've been through the past couple months, you deserve an awesome night out, plenty of dance music, and lots of adult beverages :-)