Thursday, January 31, 2013

Excuse my Food Tangent....MTHFR Verdict is In

Just when we thought we'd make it out of this crazy cold season unscathed, hubby must have picked something up on his last stint of traveling. He's over the hump already, but I'm working pretty hard at not catching whatever "it" is. Needless to say, every bed sheet, blanket, and throw pillow that he's touched is getting washed right now. Taking a little breather to talk to my awesome blogosphere friends while sipping a cup of this...

Add a little stevia and you're golden.

I've never considered myself a huge ginger fan, but it's probably because the first experience I had with it was a much too generous helping on the side of an unsuspecting Asian dish. Without warning, I took a huge bite and proceeded to turn bright red, eyes watering, like something straight out of a cartoon. If you've ever swallowed a huge ass piece of ginger like that you know, it's too late....there is no rewind button for that! I learned my lesson and have been brave enough to find other ways of enjoying it in smaller amounts. This tea is the bomb! And yes, it really does help with digestion! Ginger is supposed to have many beneficial "warming properties" according to Chinese medicine and also helps to clear out phlegm and assist in a less hostile environment where sperm and egg meet.

I've been drinking a cup everyday along with huge spinach salads full of raw veggies. I've been in major cleansing and rebuilding mode following the methotrexate injections for the ectopic. That stuff robs your body of folate. I'm on a mission to rebuild right now with lots of folate rich foods, like wheat germ in my hot oat bran every morning and spinach salads everyday for lunch. I am a total copycat and stole this salad idea from the Costco deli after falling in love with theirs, and now I just make my own at home. I don't think I could ever get sick of these...

Spinach salad w/ red onions, grape tomatoes, hard boiled egg, grilled chicken,
black walnuts, dried cranberries, grated parmesan & lemon poppyseed dressing

Are you hungry yet? While we're on the topic of favorite foods, my other addiction this week has been carrot chips. Oh em gee! These are sooooo good, and I've been snacking on them between meals, with meals, anytime I just want to reach for something.

Salty + Sweet = heavenly snacking

There are only 120 cal & 6 g fiber in 3/4 cup and only 3 ingredients (carrots, non-hydrogenated canola oil, sea salt). How many other chips can say that? I am so addicted it's not even funny! I'm salivating now, so excuse me while I grab a handful.  :)

I actually came on here to blog about my Counsyl genetic counseling phone consult but clearly just went off on a food tangent. Thanks for bearing with me! I should probably update on the fertility front while I'm here...

Yesterday morning, I had my phone consult with the Counsyl genetic counselor. They offer this for FREE when you have the testing done. I've got to say I was uber impressed with my counselor Beth's knowledge. Apparently she had twelve years of experience in a prenatal genetic testing setting prior to working with Counsyl and I could tell by the way she was answering my questions. I understood most all of the report reading it on my own, which I talked about in my previous blog, but I did have some concerns still regarding the MTHFR diagnosis.

Beth told me that this diagnosis is somewhat controversial and that there was a great deal of hype about it in the early 2000's, including some opposing findings on pregnancy loss. She said that while it is true many people with MTHFR do lose pregnancies, what they know now is that it may not be THE CAUSE of the losses. In reality many people who have MTHFR might also have other clotting factors/autoimmune issues present. The rate of pregnancy loss in the general public is high as it is, and so is the fact that 1 out of 3 people are carriers of MTHFR. It's virtually impossible to isolate MTHFR on it's own saying it's "the cause", due to the common occurence in individuals who bear other conditions. It would be inaccurate to say "Emily lost the baby because she has MTHFR and wasn't treated", when in reality, I do have the presence of 3 blood clotting disorders known as well. So, many of the studies regarding MTHFR are somewhat flawed, because they ultimately show a relationship of correlation and not necessarily causation.

Counselor Beth also said that someone with a mild diagnosis of MTHFR and no other known issues would not need to necessarily take blood thinners during pregnancy. It's only when the other clotting factors are present that this would be necessary, because having a mild form of MTHFR on it's own is not going to cause your blood to clot or cause pregnancy loss.

What MTHFR can do in various combinations is to block the absorption of folic acid in SOME people, not all.  In my case, she kept reiterating how this was a mild condition. I asked if I should have my folate levels checked and she said NO. A more reliable way to tell if your body is able to absorb folic acid properly is to have homocysteine levels checked. This is a better indicator if you are absorbing folic acid properly or if you have anything to worry about.

Luckily I just had my homocysteine level checked as part of my RPL (Recurrent Pregnancy Loss) blood panel, and my level was 6.3 on a scale (5-12). I'm so glad I had that test done by the way! It's nice and low which shows the MTHFR is NOT affecting my ability to absorb folic acid, and further proof that my diagnosis is really not much to worry about. It's when homocysteine levels are elevated, that there could be cause for concern. As I mentioned in my previous blog, some dr.'s do advise taking Lovenox and aspirin upon pregnancy as a precaution for the MTHFR condition, especially when paired with other blood clotting factors. I'm already taking baby aspirin daily and have my script for Lovenox ready to go the minute I find out I'm pregnant, so I'm all set there. 

So, I guess you can say I'm not going to worry my pretty little head about the whole MTHFR thing. I'm not an expert on MTHFR by any means, so if you have this condition please seek your own medical advice in relation to the combination of enzymes you possess and the severity of your diagnosis based on your own individual circumstances. As for me, I'm glad to know it's there, but also glad to know it's really not going to change my protocol when it comes down to it. Going on with business as usual here!

I did inquire about hubby's abnormal 45x, 46xy karyotype as well for a second opinion after the last genetic counselor couldn't give us many answers. Counselor Beth basically said she unfortunately had the same feedback...that this karyotype is one of those things that "just may or may not affect anything." She said she wouldn't necessarily recommend doing PGS with our IVF based only on the fear of passing down this abnormal karyotype.  She did, however, suggest that PGS could be very beneficial for us solely based on my age of almost 35. She talked about the aging of eggs, the prevalence of chromosome abnormalities, rate of miscarriage, Down's Syndrome and other trisomy conditions. She said that age and risk factors such as these would be the larger reason for choosing to have PGS done on our embryos and NOT hubby's chromosome analysis.

This means we've had 2 professional genetic counselors now tell us that it's basically "up to us" if we want to do PGS with our IVF. We know that PGD is clearly not needed now that we've done all of the genetic testing, but PGS still remains a personal decision. We will continue thinking on this and discussing it. I haven't even priced the entire PGS procedure as an add on to IVF either, but at this point it's not about money for's about doing what is best and having the best probable rate of a successful pregnancy.

Of course, we are still praying for a miracle this month to avoid IVF altogether, so please keep us in your prayers as we give it our best shot. Fertility Friend is predicting ovulation in about 7-10 days, so we'll see if it's right. Testing with OPK's begins tomorrow!

Tuesday, January 29, 2013

HSG Clean as a Whistle...We are Cleared for Take-Off!

Good news came from Dr. Vaughn's office yesterday. My HSG results came back and we are clear for take-off!  The nurse said the HSG showed the same slight uterine septum that has always been present, but other than that no scarring in my tubes or uterus. Many RE's do an HSG following an ectopic pregnancy to see if it reveals any new damage or structural issues, but many also require it before proceeding with IVF. If you have blocked tubes with hydrosalpinx fluid leaking out of them, this can cause unsuccessful IVF, so that's one major reason why they require the HSG (or one of many other tests that looks at the fallopian tubes).

While I am over the moon happy that I don't have any major blockages or scarring, I'm still confused on why I had an ectopic pregnancy to begin with. Here, I have a test showing that my tubes are "open" but for some reason I had an embryo that implanted in there and wouldn't come out!

The more I read on the topic, the more I realize that...

A) It's a complex process for a fertilized embryo to travel out of the fallopian tubes.
B) Sometimes it just happens, and I may never know the true cause with 100% certainty.

Even though the HSG didn't show any detectable damage in my tubes, there could be something microscopically small there preventing safe passage of an embryo (like mild endometriosis, etc.) that just doesn't show up on the HSG. Likewise, the HSG could have flushed out anything really small that was blocking my tube(s) prior to the test. It doesn't take anything very big to block something the size of a grain of sand (like an egg or embryo) from passing through, so there's no telling.  Either way, they're pretty darn clear right now following the Spring cleaning that just took place. Ha!

Many RE's say that fertility is increased following an HSG, because it basically flushes out your lady parts and removes anything getting in the way of things flowing smoothly. I am actually a believer of this. Following my first HSG in 2011, I became pregnant the first cycle following the procedure.

The HSG seemed to make me fertile myrtile once before, and there's always a chance it could work again. We were given the official go ahead to being trying to conceive again!  If we want to try this month, it will have to be naturally, because I'm already on CD10. It would be too late to start a medicated cycle this month, and trying on our own is our only option if we'd like to try right away.

We realize we have an increased risk of a repeat ectopic (20%) trying naturally, but we both really want to give it another shot before moving onto IVF...especially since the HSG seemed to do something for us the only other time we became pregnant. Plus, we feel we are emotionally ready. I can't even tell you how happy it would make us to become pregnant with a HEALTHY pregnancy ON OUR OWN and save ourselves the physical and emotional rollercoaster, not to mention $15-$20K for one cycle of IVF. Let's just say I'm going to be praying A LOT in the coming weeks that we can somehow miraculously conceive on our own this cycle!

I saw something Joel Osteen posted on his facebook page today and it was exactly the reminder I needed...

It's taking a lot of faith for me to believe it CAN actually happen for us on our own with no medication and no doctors this month. I know this is basically a last ditch effort to try again naturally, seeing how it hasn't worked soooo many times before, and we've had so many setbacks. But you know what? I do believe in miracles. I believe that God wants us to have a family and be happy. Maybe He wants to use this one last try to show us just how powerful and compassionate He truly is. And if not, at least we have other options available. All I can do is focus on what my heart wants more than anything else in this world right now and believe it IS possible.

Friday, January 25, 2013

Counsyl Test Results & Onto HSG #2!

Well that was quick! 1.5 weeks after we mailed off our samples for the Counsyl Genetic Testing our results are already in. I wasn't sure what to expect, but I am soooooo glad we did the test, if for nothing else but to have peace of mind and to know whether or not we should entertain the idea of doing PGD with IVF. We were tested for more than 100 diseases.

Here are the results...

Hubby: Carrier of Cystic Fibrosis (Kinda crazy!)
             Carrier of HFE- Associated Hereditary Hemochromatosis
             Carrier of MTHFR deficiency

Me: Carrier of HFE- Associated Hereditary Hemochromatosis
       Diagnosis of MTHFR
       NEGATIVE for Fragile X Syndrome

Ok, so what does all this mean? I have yet to do my follow-up phone consult with the Counsyl rep, and we'll also be speaking with a clinical geneticist in the coming days (just for a second opinion), but I believe I understand the Counsyl results pretty well.

In short, this DNA testing looks for recessive diseases. We can all be carriers of recessive diseases without actually passing the disease down. In fact, for all of the recessive diseases except Fragile X, BOTH parents need to be carriers of a particular disease to have increased risk for passing it down. My heart skipped a beat for a couple seconds when the nurse told me hubby was a carrier for Cystic Fibrosis, but it really doesn't mean much because luckily I'm not a carrier.  Phew! We would both have to be carriers in order to have a really high risk of passing it down. Watch this short VIDEO from Counsyl where they explain how all this works. 

You'll notice we are indeed both carriers for HFE though. You have probably never heard of this and neither had I until I read about it.  It's basically a common inherited disease where the body absorbs too much iron. It's totally treatable and not a huge deal at all. Now that we know we are both carriers for HFE, we may want to have any children tested for it early on so as to avoid complications later in their lives, but other than that, nothing life threatening to worry about.

Then there is MTHFR (a.k.a. the MoTHerFuckeR among infertility circles). Yes, I am serious. Ha! Being just a carrier (like hubby) probably doesn't mean much. 40% of the US population carries the mutation for MTHFR, but only 10-12% of Americans actually have the condition. I got to be the unlucky one here, because yet again I fall into the small percentage of people who have it. Why exactly is this thing such a motherfucker? Well, when someone has certain mutation pairings like the ones I have occurring simultaneously (heterozygous C677T & A1298C) it is associated with a 2-3 fold higher risk of having a child with severe neural tube defects such as spina bifida.

Taking folate supplements helps lower this risk, but my understanding is that people with MTHFR also can't absorb synthetic folic acid. This means I can't just take any ole prenatal. I need to take those which are made from naturally occurring folate. Luckily I have been taking New Chapter Organic Perfect Prenatals for the past 1.5 years, and they are derived from whole organic foods, so I should be good there. I also eat a ton of spinach and other veggies and grains high in natural folate, so hopefully that helps. Many times those with MTHFR are recommended to take baby aspirin and Lovenox during pregnancy as well....again, things I am already planning on doing due to my other autoimmune/clotting factors.

There is a lot more to know about MTHFR, because there are many different mutations and combinations. The diagnosis ranges from mild to severe, and the implications can be vastly different. From what I understand I have a mild diagnosis, and the fact that it's heterozygous MTHFR (meaning I have only one copy of each gene mutation) is good. When someone has homozygous MTHFR (two copies of the same mutation) and more severe forms, it can become even more problematic...from what I understand. Don't quote me on all this MTHFR stuff.  For now, I'll just keep eating folate rich foods, taking my prenatals, and see what the geneticist recommends.

The good news is that I was found NOT to be a Fragile X carrier. This disease is linked to many learning and behavioral disorders including autism, and Counsyl only tests the woman for it. It's passed down differently than any other recessive disease, and there's no cure for it. It's one that can also present in many forms ranging from mild to severe, but I don't have it and risk of passing it down is slim to none, so nothing to worry about there.

All in all, I feel like the news is good and I'm taking a huge sigh of relief! As just a lay person interpreting these results, this tells me that there is absolutely no reason why we would need to do PGD (Pre-Implantation Genetic Diagnosis) with our IVF. We don't have any substantial risks for passing down any life threatening diseases, so there's no reason to do PGD. This test really gave me peace of mind since I don't know half of my family history.

We are still contemplating doing a smaller scale PGS (Pre-Implantation Genetic Screening) however, which would just screen for chromosomal abnormalities (Down's Syndrome, etc.) This is something we plan to speak with the clinical geneticist about. You may remember we already spoke with a "genetic counselor" a while back about our chromosome analysis and hubby's abnormal 45x, 46xy karyotype, but to be honest...we want a second opinion. Neither of us felt very confident with the counselor's ability to answer our questions to our satisfaction and I'd rather speak with someone more qualified with an MD at the end of her name.

This clinical geneticist specializes in multiple areas that could affect us (cancer risk, prenatal counseling, pregnancy loss, birth defects, genetic conditions, etc). She is supposed to be THE WOMAN in Austin to speak with on these things, so I kind of wish we went to her to begin with instead of the last mediocre genetic counselor we were referred to. However, now that we've got our chromosome results AND our Counsyl results, we'll make an apt. with Dr. Ladonna Immken to speak in-depth about the whole kit and kaboodle. I'm sure we'll feel extremely confident understanding our risks and course of action once we speak to her, and we can finally close the book on all the genetic testing and risk assessment.

The really cool thing is that our testing is done now and our DNA will never change! Even though it's been some work to find out all of this information, we now have a full picture of what we're made of and that won't change when we conceive baby #1, #2, and who knows maybe #3? Hey, you never know! It's so nice to know we don't have risks to pass down anything too crazy. It's a personal decision, but I would highly recommend doing the Counsyl Testing to anyone who is curious to know their own risks.  I'm glad I found out about the MTHFR if nothing else, because that alone is very important to know for anyone trying to conceive!

Sooooo, that was yesterday's news. Today, I had my HSG (hysterosalpingogram) to assess the inside of my fallopian tubes and uterus following the ectopic pregnancy and prior to IVF. For anyone who doesn't know, this is a test where they insert a catheter directly into your cervix and shoot dye up through your lady parts. I know you are so jealous of my fun Friday afternoon!  I was all nervous, because of the ectopic... I wondered if anything new would be present, blocking my tubes, and I was scared it could be painful. This is one test you just hear so many different things about. Some women say they just feel slight cramping and others say the pain is unbearable and excruciating. I covered my bases and took a Vicodin an hour beforehand just in case.

I also requested the same female technician who did my HSG in 2011, since I had a good experience with her already. Low and behold, the whole test took less than 2 minutes tops. I watched as the dye shot right through both sides of my tubes and spilled into my uterus. I did not feel a thing, not even the slightest cramp! I will of course wait for the final word from the radiologist and Dr. Vaughn, but everything looked pretty normal to the tech and to me as we watched the monitor. I'm really interested to hear Dr. Vaughn's feedback and will hopefully hear from him by Monday.

I did ask the technician why women have such vastly different experiences with the HSG. She said it can be a number of reasons, including if someone has can hurt to really try to push that dye through when something is in the way obviously. However, she said a big factor is the medical devices they use. She said because she's a woman, she knows to choose the smallest equipment she possibly can. She uses the tiniest speculum she can and she also uses a "5 French catheter" which is apparently the smallest one they can use for this procedure. She said many times if it's a male tech or someone who just doesn't care much, they will use a "7 French catheter" and it can make a big difference for some women's comfort. Very interesting! So, if you're someone who's had a bad HSG experience or if you're about to have your first one done, it might be worth requesting a female tech, and no matter what request the 5 French catheter if you can. I'll definitely make a mental note of that myself!

If you are still reading God bless you. I am tired just writing about all of this testing, and doubly tired of doing it. We are getting closer to being done with it all and REALLY ready to start IVF! Hubby has been on biz travel for 6 days this week and returns tonight. I for one, will be soooo happy to take a break from all things medical this weekend and just kick back with my sweetheart. I wonder if you can overdose on bubble baths and jazz?

Tuesday, January 22, 2013

Celebrities Dish on Infertility

One of the most difficult parts about receiving a diagnosis of infertility is the lack of awareness and support for those of us affected. The general lack of knowledge in the public and private sectors directly affects people's ability to get access to the care they need. Why? Well, infertility was only recently recognized as a disease beginning in 2009, and up until now it's largely been something that "people just don't talk about."  As someone with a 91 year old grandma who had 7 surgeries to repair her female reproductive system in the 1940/50's and was ultimately still unable to successfully conceive a child of her own, I can assure you infertility was around much earlier than 2009! It just hasn't been a topic that is important enough for our society to visit.

Incorrectly so, many couples are ashamed of the fact that they can't procreate as easily as others. Even though 12% of childbearing aged couples in the US are affected by infertility, we are still in the minority, and this issue has not been a priority for policy makers, employers or medical insurers. Personally, I feel like the largest missing piece to this puzzle is awareness; What is infertility? Who is affected? What can be done about it?  And unfortunately, as much as I write to my congress people (which I have done multiple times by the way) and as much as I support initiatives and sign petitions for medical coverage of infertility, sometimes there is nothing more powerful than a "shout out" from a celebrity who's been affected.

There have been plenty of celebrities in the past who have used IVF, egg donation, and surrogacy who have chosen NOT to talk about it. Kelly Preston, for instance, became pregnant at age 47 and has always been tight lipped about her miraculous pregnancy, even appearing on a talk show recently stating how "easy it was" to be pregnant at 47. This is where I become a little irritated, only because more than likely she used A.R.T. (Assisted Reproductive Technology).  I don't need to go to medical school to know she likely either had frozen eggs/frozen embryos of her own OR that she could have used donor eggs with IVF to become pregnant "so easily" at that age. Then again, maybe she's the second coming of the Virgin Mary and I don't know what the hell I'm talking about. Not my place to judge I suppose, but I just feel it sends such a confusing message when you want to talk about how great and easy it is to be pregnant at age 47 publicly, but you don't want to talk about the inconvenient parts of what it took to get there. Believe me, I understand wanting to keep things private, but to kind of then gloat about it "being so easy" at age 47 is like a slap in the face if you DID in fact need a little help. I don't care who you are or how tough you are, IVF and other fertility treatments are no walk in the park. There are many reasons young men and women are waiting longer and longer to start families, and a misinformed view of what can actually be achieved naturally is being perpetuated by the multitude of 40+ celebrity pregnancy stories flooding the media. I just wish more celebrities would be open about how all of these so-called miraculous 40+ pregnancies are actually occurring....with the help of science.

However, I have to commend the celebrities who have chosen to open up about their infertility struggles and use of A.R.T.  People like Marcia Cross, Elizabeth Banks, Celine Dion, Brooke Shields, Cindy Margolis and others have my sincerest THANK YOU.   I don't think it's the job of celebrities to be educating patients on what to expect entirely by any means, but too many women are being caught off guard when they reach their 30's and 40's and then find out they have many more roadblocks to creating a family than they thought possible, in large part BECAUSE OF the skewed info out there. Furthermore, only when infertility becomes more of a mainstream discussion, will people become more comfortable with fighting for the types of initiatives they want to see endorsed by their employers, their health care plans, and legislation. I'm obviously not scared to talk about what we've gone through, and I'd love to see more people to talk about it!!!

In addition to the women who have stepped forward to talk over the last decade, now more men are finally starting to open up too. In just the past week, I've seen two male celebrities talk openly about their own struggles with infertility. Hugh Jackman spoke yesterday on Katie Couric's talk show about he and his wife's failed IVF attempts, recurring miscarriages and adoption. Last week on The View, Tom Arnold opened up about his extremely low sperm count and inability to conceive with multiple partners, before finally having successful IVF at age 53 with his current wife (watch the video clip at minute 1:35 where he talks about it). BIG FAT KUDOS to hearing these men speak up and shed some honest light on the issue...especially the ones who are confident enough to talk about MFI (Male Factor Infertility).  That takes a lot of balls, even if they are undescended! ;)

In our own real life, we've only had the pleasure of meeting a couple other people who have undergone fertility treatments. In those moments, it's quite refreshing to hear someone else's husband throw out the term IUI like it's just part of regular conversation without even batting an eye. It makes me feel just a little less alien for a brief moment in time. My hope is that more celebrities, including male celebrities, will speak up. We need more awareness on this topic, and even if it's America's least favorite Kardashians who are opening up about it, at least the topic is becoming something that people are now talking about more openly little by little.

Do you think celebrities have any moral obligation whatsoever to discuss their infertility struggles?

Do you think celebrity voice affects how infertility is viewed and/or the types of resources we offer people in this country?

Do you think the typical media coverage of 40+ pregnancies is misleading in any way(s)?

Sunday, January 20, 2013

My Mom's Blessing...10 Years Later

Every once in a while we are lucky enough to receive a message at a time we most need to hear it. Recently, as part of hubby's ongoing project to move important emails/documents onto an external hard drive for safe keeping, he came across something that I am TRULY GRATEFUL for! Of all things, he found an email exchange written almost a decade ago between he and my mother. In it, he asked her for my hand in marriage, and she obliged. Not only did she oblige, but she included a prayer for us and our marriage.

I was moved by this, not only because it made me remember how grateful I am to have the perfect soul mate, but I was also reminded of how my mom told me my entire life she prayed for me to meet that perfect person. When I did, she knew he was the one, and so did I. That is not something everyone in this life gets to experience, and I've always known our love is truly rare. I feel it in my bones every single day that I wake up, but hearing her talk about how she prayed for me is just another reminder not to lose sight of our special gift, no matter what we're going through.

I was moved even more to hear the words of my own mother, more than 7 years after she passed. It's funny how she could have known way back then how much we would need to hear this prayer 10 years later. I'd never seen these emails up until now, but to be blessed with a prayer from my mom, and to hear her talk about how God will bless us and "our offspring" was....Well I am still just speechless and grateful and so VERY BLESSED to have this tiny piece of correspondence. I believe we found these emails for a reason. I needed to have my mom pray for me, and I will keep these words close to me forever. To say that finding these touched me would be an understatement, and I wanted to share them with you.

Date: 7/10/2003 10:23:48 PM Eastern Daylight Time

From: Matt (hubby)

Subject: blessing

Hi there. I am writing this because I don't have your real phone number and it would be very obvious if I asked Emily for it. We are both moving out of our current townhouse into somewhere else in the coming months. Also in the coming months I wanted to ask her hand in marriage and I'd like to get your blessing! The truth is, when I first met her I knew that second she was the one. I even told many of my friends the very next day she was the one I would marry down the road. She has made me and continues to make me the happiest man in the world. I could not and would not ever dream of a better girl to be by my side for the rest of my life. With all of this being said, I hope you are ok with this and I'd like to pop the question sometime in August or so. Could be late August or even beginning of September, depending on some things I have going on w/ business and timing. Assuming you are ok with this, I ask to please keep it very much of a secret and to only tell family if needed. I would hate for her to know beforehand..:( Hope you are well and feel free to give me your real number so emails don't become the only way we speak..:) Love Always, Matt

From:Vicki (my mom)

Subject:  Re: blessing

Dearest Matt,

Thank you for acknowledging my role in Emily's life.  I have considered it my duty and privilege to pray for my daughter's welfare and happiness all these years, and will consider it a double blessing to add your name to the "list".   Although I didn't always know your name, I have been praying for you since she was tiny.  I always knew that God wanted to bless her with a truly wonderful and perfect mate.  After meeting you and seeing the effect you have had on Emily,  my appreciation for God's ways has deepened.  I don't believe many people appropriate the divine blessing of marrying the ONE person that God created to be their partner.  It gives me tremendous satisfaction to know that you have both "found each other".   You are and always will be a reason for every person in our family to give thanks and praise to God.  I truly hope you both determine to rely on Him to guide and sustain you.

May God Bless You Both

in your coming out and your going in;

in the city and in the country;

in your rising up and your lying down;

in the offspring of your body

and the produce of your ground.

May He cause your enemies who rise up against you to be defeated before you;

they may come out against you one way but flee before you seven ways.

May all who know you call you favored.

May He, who created and knew you both in the womb,

pour out upon you His richest blessings.

And may we all be grateful for this union that God has created forever.

P.S. I didn't realize you never had my numbers!  Please feel free to call me about any little thing at any time.  I mean that.  Also, stop by anytime you care to.

Thank you for helping Emily get her giggle back.

We were afraid it was gone forever.



Yep, my mom was pretty amazing and so is my hubby. I cannot read this without bursting into tears. Is it just me, or was finding this more than a mere coincidence?

I don't know if the prayer part is an actual scripture or if it was just my mom praying off the cuff...this is how she used to pray out loud, so I wouldn't be surprised if she was just praying from her own heart here and not reciting scripture. If anyone knows if this is a certain scripture though, please feel free to let me know. I'd be really interested to know where it comes from if so.

The last part about "getting my giggle back" gets me every time, because what some of you may not know is that meeting my husband absolutely saved me. I had just ended a 7 year relationship with a complete asshole, for lack of a more fitting description, and was left feeling completely disheartened and lost in my young 20's. The seemingly random meeting between my husband and I ended up changing my life forever. Everyone around me knew that when we met, we were meant to be together.  I wake up every single day of my life grateful for him, and no matter how difficult this journey can be sometimes, our love is something no one can ever take away from us.

When I first read these emails, I couldn't figure out what URMFEO meant either. Leave it to my mom to be talking in text speak before people even texted really. haha! She was a high school teacher in an inner city school, so I wracked my brain trying to think was the heck lingo she was using here. Then, I realized what it stood for:  U R Meant For Each Other.  She always said we were. 

This will always be a reminder that she's still watching over me and taking care of me....correction, watching over us. It's also a BIG reminder that I need to rely on God to carry us through any obstacle we face.  I think she meant for us find this message when we needed it most. I miss my mom so terribly much, but I am eternally grateful to have found this small piece of her and to have her blessing and prayer for us. It's truly amazing how God can send us a message in the most unexpected way, right when we need it most.

Thank you God. Thank you mom. Thank you to my amazing hubby. I am blessed beyond belief.

Tuesday, January 15, 2013

Counsyl Genetic Testing

I've been thinking lately how much effort we've put into having a child thus far, and how it has brought us to where we are now...ready to try IVF for our best chances at a successful pregnancy. I thought the decision to do IVF would be the hardest one alone, but what I'm realizing now, is that doing IVF just presents other decisions regarding how far we'd like to take the process.

As you may already know,  IVF now allows for other optional procedures to be done at the same time the embryos are outside of the body. There is ICSI (Intracytoplasmic Sperm Injection) which is the process of taking the healthiest looking sperm and injecting one straight into each egg for guaranteed fertilization of every egg retrieved. Then there is gender selection, for couples who really want to have a girl or a boy. There is also PGD or PGS (Preimplantation Genetic Diagnosis/Screening) for couples who want to make sure the embryos they put back into the mother-to-be are healthy.

For us, we could care less about the sex of our baby. However, like any parents, we want more than anything to have healthy children. Most people don't think twice about genetic testing before they have children (unless they've already had one child with a life threatening or debilitating disease). In cases where couples have had one child with disabilities, a major concern lies in what might happen if they go on to have another. That is why PGD & PGS were allow couples to weed out "bad embryos" and save themselves and their future child a lifetime of heartache and pain.  It's becoming more and more common for couples to use this amazing technology so ensure that they have a healthy baby. 

During PGS, one cell is removed from each multi-cell embryo on Day 3 of the fertilization process and a chromosome analysis is done on the single cell. This will reveal any abnormal karyotypes, aneuploidy, etc....things like Down's Syndrome that are the result of chromosomal abnormalities (perhaps age related or where the parents are not "carriers"). Then, there is PGD, where the same process is used to remove one cell from the multi-cell embryos and test for abnormalities. However, PGD differs from PGS in that PGD tests for specific diseases to which the parents are known carriers and have potential to pass the disease down to offspring.

For example, if a mother-to-be is over age 35 but has no family history of genetic diseases and does not test positive as a carrier for any genetic diseases, she may still be concerned about elevated risks of Down's Syndrome and may opt to do PGS with her IVF to ensure this does not occur. It basically takes the traditional form of post-conception screening and converts it to process whereby she can screen for the disease pre-conception.

Similarly, if a couple has a child with cystic fibrosis for instance, they may want to use IVF with PGD to make sure they do not have another child with cystic fibrosis. Or if a couple who has never had children does genetic testing on themselves (as a precautionary measure only) and is surprised to find that both partners test positive as carriers for a specific genetic disease such as cystic fibrosis, they could also benefit from adding PGD to their IVF protocol. In either case, the embryologists in the lab would test each embryo and only save healthy embryos for the couples to use now or in the future. Pretty amazing right? You can read more about it HERE if you like.

Even though most abnormal embryos would most likely fizzle out prior to the embryo transfer through an inherent natural selection process or just miscarry once inside the womb, there are no guarantees they would do so. I don't understand why people, and even dr.'s say things like, "Oh, if there's something wrong with the embryo, it will just miscarry on it's own. " Ummm, not necessarily. Why do you think there are thousands of children in this world with life threatening diseases? And besides, who wants to keep miscarrying over and over and over again if it's possible to test the embryos and pick the healthiest ones to put back in? Even though the technology is not 100% accurate, it's more accurate than doing nothing.

Granted, if we could have conceived a child already through the normal process, we wouldn't even be having this discussion right now. We would have "relaxed" "taken a vacation" or "just stopped thinking about it" and would have magically gotten pregnant. However, that is not the case, and it has not been our path. Our path now seems to be leading to IVF, and that means whether we would have liked this as our first choice or not, my eggs will be taken out of my body, fertilized with hubby's sperm in a lab, and the embryo(s) will be transferred back into my body. Hubby and I have discussed PGD & PGS and both feel it may be beneficial to consider. Trying as long and hard as we have so far, why not do what we can to ensure a healthy pregnancy BEFORE it happens?

Women everywhere do prenatal testing as early as 10 weeks along to determine if the baby is healthy in order to make sound decisions or "prepare for the worst". If I had a prenatal test at 10 or 12 or 16 weeks along that told me my baby wasn't healthy, I'm not sure I could bare ending that pregnancy. Talk about being a nervous wreck! However, testing a microscopic embryo the size of a few grains of sand (Yes, that's how small it really is!) and choosing not to even give it life BEFORE it's ever even placed back inside the uterus is a different story. Although we aren't completely decided yet, we feel like it could be a REALLY smart decision for us and our future baby to use the technology available. That's what it's there for after all!

We've already done chromosome analysis on both hubby and me, and as you may remember if you read my blog, hubby had an abnormal chromosome analysis (even though he's perfectly normal). Even though it's unlikely his 45x, 46xy karyotype would be passed down to offspring, it is still possible. And if it was passed down to offspring, the child could be lucky like him and  have no major presentations at all OR it could have some major issues. There's just no way to tell without a crystal ball. For this reason, we're considering doing PGS testing at minimum.  It would guarantee that we do not use any embryos which show aneuploidy in them. In addition, my age and my DOR diagnosis also put me at higher risk for having chromosomally abnormal eggs/embryo's. Of course, screening with PGS can also lead to having fewer embryos left for transfer, because it rules out using any abnormal embryos. We do know that is a risk and are considering that aspect in our decision as well.

In order to determine if we should consider doing PGD, we first need to know if we ourselves are carriers for any specific genetic diseases. In my case, my mom was adopted at 5 months old, and I really don't have much family history on her side. For these reasons, we have opted to do something called Counsyl Testing.  It's a very simple process to screen both partners as carriers for 100+ diseases. Many OB/GYN's and RE's are now recommending this testing to couples prior to them even beginning to try to have a baby. Reason being, if they come back as carriers for a disease, it may change their reproductive choices. They may opt for IVF with PGD/PGS, adopt, or not have children at all. The point is that it gives the couple choices. It's pretty inexpensive considering all of the info. you are getting.  If you are interested in learning more, definitely check out Counsyl's website and contact them directly or your physician for more info. It's worth mentioning that this is the same testing that fertility clinics use on women who donate their eggs and men who donate their sperm to ensure that proper matches are used for donor recipients. Makes sense!

Once you order the test kit, this is what comes to your doorstep about two days later...

Then, you and your partner spit into separate test tubes and mix a preservative solution with the saliva...

Place the tubes back in their own little biohazard bag along with each person's name & DOB...

Put them in pre-paid FedEx envelopes, which are provided already, and schedule a pick up...

That's is! DNA is so cool! It's absolutely amazing they can test for so many genetic markers like this! I think if you surveyed parents of kids with rare genetic disorders and asked them if they wish they could have done a simple test to learn what their risks were, I bet close to 100% of them would say yes. In fact, I did ask a girlfriend of mine who's son has cystic fibrosis about it, and she said "DO IT!!!" It hasn't always been this easy to test DNA so simply and inexpensively, that is for sure.   I realize that we may find out information about ourselves that we otherwise would not have known, and we are both ok with that.

In addition to the saliva tests, I will give a blood sample at one of their lab centers for Fragile X, which is also another important genetic marker to know about. That one must be done separately. It takes about 2-3 weeks to get the results on everything. The results of the Counsyl Testing will help us determine if we'd like to do PGS or if we should consider PGD to test specifically for a known risk. We'd like to have more than one child as well, so I just think it's good to know exactly what we're made of first. Would love to hear your feedback if you have any on this subject!

-What do you think about Counsyl Testing?
-Have you considered doing IVF with PGD or PGS?
-Have you decided against doing either of the above for any reason(s)?

Friday, January 11, 2013

It's the Little Things in Life...

that can make your day go one way or the other. When I woke up, I wasn't sure which way it was going to go, and that alone can be dangerous. We should all KNOW how our day is going to be the minute our feet hit the floor. When it comes down to it, we have a choice in the matter. That is one lesson I'm trying my best to focus on right now.

I knew it was going to be a beautiful day, 73 and sunny...the perfect day to grab lunch outdoors with a girlfriend! I invited all 3 of my close friends (I know, HUGE friends list right) haha! One by one, they all declined; One was home sick with a kid, one got sick from her kid with work to make up, and the other was busy with errands, most likely kid related. I'm sure most parents would disagree, but I want those problems! I'd love to be home making it all better with chicken soup! And of course, I do understand. People have lives, even if I don't feel I do sometimes.

Then I got to my volunteer shift and one of the women I work with was back from maternity leave. Oh lordy, hopefully this won't be 3 hours hearing about how awesome her new baby is. This woman knows very well of many things we've been through, but always seems to say the worst thing possible. Like after my first loss when I was struggling to conceive again (which she knew about), she announces her pregnancy and tells me, "Yeah, I just took my IUD out last month, plugged in the date of my period into an online calculator, and we had sex for the 5 days it told me too and Wallah!" Well that's fantastic. I wonder if there's an online calculator for how long your recovery time will be once I punch you in the face?

Fast forward to today...After hugging me and asking me how I've been since the ectopic, she gives me a look of pity and segways immediately into, "Ok, well I've got to go to the mommy's room now!" I ignore the comment completely. She continues on anyway, "Get it, the mommy's room, because I have to go pump." I still say nothing. She then puts her hand on my shoulder, kocks her head to the side literally looking down at me in a fake sympathy kind of way says, "Seeee the things you don't have to worry about?" I look at her like she seriously better get out of my way FAST and go right back to my emails. She notices how unresponsive I am and corrects herself with, "Well, I hope you'll get to do that someday."

Seriously?! What the fuck? From now on, I do not want to talk to this person about ANYTHING other than cancer. I am here to support people affected by cancer, and not to listen to insensitive remarks. I take a deep breath and continue on with answering my emails. Some days my volunteer work entails answering emails from people who need help with a cancer diagnosis for themselves or for someone else. Do that once a week, and it WILL give you a reality check like no other let me tell you. I just happened to receive an email from a woman, age 32 diagnosed with ovarian cancer at age 10!!! I didn't know that could even happen, but apparently it can. She had a complete hysterectomy later on in life, but can never have children and is just hoping to stay in remission and just stay alive for God's sakes. I was able to offer her some great resources for support, and that was all I needed to stop feeling sorry for myself....yet again. It was only 10 AM at this point. I decided I would not let anything else bother me today, and I resolved to make my day what I wanted it to be. No more silly things bothering me!

After my volunteer shift, I pulled out of the parking lot not even knowing which direction to turn. Hubby is in London on a biz trip, and I didn't feel like going home. I decided if no one else could do lunch outdoors with me, then I'd just do it by myself. So there! Off I went to Whole Foods to build one of my famous $15 salads from their salad bar. I throw a little of everything in there, and the weigh in at the cash register is always a little embarrassing I must say.  I would post a pic of my salad awesomeness, but the pic really wouldn't come close to doing the taste justice. Instead, I will show you the other impulse buy I made on the way to the cash register. WARNING: FOOD PORN AHEAD!

Just FYI, Whole Foods Sticky Bun heated in micro for 30 seconds doesn't suck!

I was not intending to purchase this gem, but just try to tell me if YOU saw this creation in the tiny little self serve bakery window you would not grab one! They deliberately put that bakery section right next to the salad bar for a reason. You don't even have to ask for a pastry either. You just grab it yourself....It's complete sabotage! There is even a self use microwave near the forks and napkins so you can heat it up before devouring it. Are you kidding me? I took my well-balanced meal to a picnic table outdside and basked in the beautiful day, floating on an imaginary cloud straight to food heaven. Hey, I was good all week. Throw me a bone...actually make that a sticky bun.

This is probably dorky, but the other thing that makes me really happy is to have a refrigerator full of colorful healthy foods, and if they are organic that is a double bonus. My food obsession combined with my Type A behavior means I need an organized fridge, with fruits and veggies ready to go at a moment's notice, or I can't function properly.  I am totally Costco obsessed and make the drive completely out of my way to shop there time and again. I won't bore you with a pic of the inside of my fridge, but it's looking pretty amazing right now!

I also got home and received an unexpected invite for an evening run from a neighbor friend, which was nice, but I had to  reply "Thank you for the invite, but I am still taking it easy from running, especially as we prepare to do IVF soon. I would love to go on a walk sometime!" One day I will be able to work out again like I used to. Again, I'm not going to feel sorry for myself! I do admit however, that I probably work the hardest at not letting the exercise sacrifice get me down.

Instead, I had an hour long talk on the phone with my sister and then took a nice looooong bubble bath with a cup of tea, candles, and some smooth jazz.

Ahhh, yes.  It doesn't get much better than this...

No, every day isn't going to be PERFECT, but I'm working on catching myself before I fall into a mood and making conscious decisions to turn it around. I'm resolved to stop sweating the small stuff. It's all about making it a habit, and it's something I'll continue to work on. It's a quiet evening solo at home, all snug in my bed, counting down the minutes until my one and only arrives back home tomorrow night, and I'm ok with that.  :)

Wednesday, January 9, 2013

IVF Meeting Re-Cap w/ Q &A

Last night's IVF group meeting was nerd heaven. I'm not sure what other people got out of it, but I loved the fact that it was so in-depth with the entire scientific process...exactly what I was lacking in my own knowledge. I was surprised that more people didn't have questions, but of course my hand kept going up. Here are a few of the questions I asked....

Q: As someone who's gone through an ectopic pregnancy, I'm concerned that I could have another ectopic with IVF. What are the chances for someone who's experienced an ectopic to have another ectopic through TI, IUI, and IVF respectively?

A: Chances for a repeat ectopic for someone trying again naturally with timed intercourse or through IUI would be the same (15-20%). We know that something prevented the safe passage of the embryo out of the fallopian tube already once and so likelihood that it can happen again is increased. In fact, repeat ectopics become even more dangerous the second time, and patients are at a greater risk of having their fallopian tube rupture and/or removed altogether in those cases. IVF would decrease the chances of a repeat ectopic to only 1-2%.

Q: Just so I understand, we are bypassing the fallopian tubes completely with IVF. How would an ectopic pregnancy still be possible, even if the chances are very small?

A: The embryo once transferred into the uterus could possibly "float" back up and then down into the fallopian tube, although this is rare. The embryo is deposited directly into the middle of the uterus during IVF and is not naturally attracted to the openings of the fallopian tubes. Again, it's possible but highly unlikely.

Q: Is ultrasound guidance used to monitor placement of the embryo in the uterus?

A: Not all physicians use ultrasound guidance with every IVF.  In cases where the uterus is shaped oddly or placement is not "easy" ultrasound is used more often. Of course, you can absolutely request that ultrasound be used when transferring your embryo no matter what, even if you are considered an easy patient.

Q: All patients need evaluation of the uterine cavity to take measurements, etc. prior to IVF. Is an HSG fine to do this, or is having a saline sonohysterogram or hysteroscopy better?

A: Hysteroscopy is probably the best way to evaluate the uterine cavity out of the three. However, they are such an expensive addition just for the sake of IVF. An HSG is perfectly fine and will give us the information we need, along with performing a mock transfer prior to the actual IVF embryo transfer. We have never had a problem transferring for patients who have done the HSG and the mock transfer.  We require at minimum, an HSG less than 2 years old for the purpose of evaluating the uterine cavity...most women already have this done.

Q: For someone who has never done any injectable medications whatsoever, how do you determine their meds protocol?

A: We use 4 main protocols for IVF, and 9 out of 10 times we will use the same protocol [BCP's, Lupron, FSH (Follistim OR Gonal-F), Ovidrel, and Crinone gel] In some women who are older with DOR, we use something called a microflare protocol, where the amount of Lupron is reduced (microdosed) so that we don't overly suppress the ovaries and the timing of the FSH injectables is tweaked slightly.

Q: For someone such as myself, who has good FSH & E2 numbers, but has been diagnosed with DOR due to low AMH, is the microflare protocol one you'd want to go ahead and use to be "on the safe side" in regards to possible poor response.

A: Probably not. We only use this protocol rarely, and in fact most clinics around the country don't even try it. We have had quite a bit of success with it when we've used it in women who are "more difficult" responders...over 40+ with DOR and perhaps prior unsuccessful IVF attempts. You would most likely use the standard protocol and we would just be increasing your dosage of FSH injections if you require further stimulation.

Q: Do you find, as a physician, that you have more success with patients whom you've been able to do injectable/IUI cycles with previously...because you have a better idea of how they will respond?

A: No, even women who may have already had injectable cycles will respond differently once you add Lupron to the equation.  We will be monitoring E2 bloodwork every 2 to 3 days as well as doing ultrasounds to monitor response, and we adjust accordingly to those results. We will add more, less or add no additional meds to stimulate the ovaries appropriately as we go. We see equal success rates in women who "have experience" with injectables and those who have never done fertility treatments.

It was a 1.5 hr. meeting, and there were some great videos of the actual egg retrieval process, PGD/PGS procedure, and transfer process once the strongest embryos have been favorite part! So cool to see how microscopic everything is! One thing the embryologist stressed was that having frozen embryos "is a privilege, not a guarantee". She repeated that a few times, which I think is worth repeating because so many women just expect to have frozen embryos left over to use at another time, and there are just no guarantees that will happen. There was some very detailed statistically analysis of their success rates and factors which affect success rates. I like that they just laid it ALL out and that they gave a realistic picture of what our expectations should be.

At the end, the woman next to me turned to me and gave me some reassurance. Suzette said she was a patient of Dr. Vaughn's, had never done any treatments (not even Clomid or Femara) prior to this and had gone straight to IVF. She got pregnant on her very first try but unfortunately miscarried and was trying now for a second time with IVF. She and her husband are also paying completely out of pocket with zero insurance coverage, so hearing that always makes me feel better in some weird maybe we're not the only ones on the planet with zero coverage! Suzette kept saying how wonderful Dr. Vaughn was throughout the entire process. She said he even called her on a Saturday morning out of the blue to give her some words of encouragement, because he remembered she was to start her injections that day. Wow...I think that says A LOT about the kind of doctor we are working with, and I feel like God sat that girl right next to me to just give me that friendly feedback.

Another woman gave comments at the end to the whole group saying, "I don't want to sound like some sort of commercial here, but I am half way through the IVF process right now and I have just been blown away by the entire staff and the way they've just held my hand throughout this entire process. I can't say enough good things about the professionalism." I highly doubt she was a hired actor. The importance of finding a clinic and doctor you can trust is paramount in the decision making process, and I was happy to hear how impressed she was with the whole process.

So this is it...looks like we have most all of the info. we need and are going to move forward. I'll be calling to speak with their financial department this week to brainstorm our best options in making this dream become a reality!

Tuesday, January 8, 2013

Group IVF Meeting is Tonight!

Tonight we attend our group IVF Orientation meeting! I'm not sure what to expect but am excited and nervous at the same it's the first day of school or something. Hubby has an impending business trip to London, but LUCKILY he was able to fly out early tomorrow morning so that he could make tonight's IVF meeting. I can't tell you how much I appreciate having a husband so involved in the process. I don't ever take that for granted! They only hold one of these sessions per month, and our favorite RE, Dr. Vaughn, happens to be giving tonight's seminar. Speaking of which, our guy was also on the news a few days ago with one of his IVF patients. I just love hearing IVF success stories, because it helps make the possibility of it working for us that much more real...

If she can do it so can I, right?? That is the purpose of a press release isn't it? Well, I guess they are in fact doing a good job of convincing those of us who want babies. ha! The fact that my hCG was back to zero on Friday makes tonight's meeting perfectly timed, and I'm thankful to be attending with a clean slate and without the burden of the ectopic still lingering.

Unbelievably enough, it looks like I may be ovulating already. Is that even possible?  I certainly wasn't expecting an ovulation to occur so soon after the ectopic, but I woke up to fertile cervical fluid yesterday, tested with Wondfo OPK's (which looked positive all day and this morning) but I ran out and bought CBE digital OPK's a little late after noticing this. I'm still testing today see if I get a + on the digital. I'm not trying to time intercourse for baby making,  but rather the opposite... I want to make sure we DO NOT have intercourse during ovulation time. I also want to know if I'm actually going to experience a true LH surge and ovulate or if this will be an anovulatory cycle. I just want to know where I'm at right now you know? It would be nice to ascertain when a new cycle will start, so I know what we're looking at over the next month or two for scheduling purposes.

I will say, it is really hard to know you're ovulating and abstain from baby dancing. However, hubby and I discussed the research surrounding "wait time" following the administration of the methotrexate shot, and we feel it's best to wait for my body to replenish it's folic acid and other key vitamins and minerals lost during the treatment. The mtx basically sucks all the folate from your body (no bueno) and although some studies say the mtx is out of your system in one week's time, many dr.'s suggest waiting a couple months time to start trying again just to be on the safe side. Guess I'll have to put on my patience panties for now. Hmpf

Instead I'm focusing on how good it feels to be back on my prenatals and supplements and to be pounding spinach salads like they are going out of style. Hubby and I are officially over the holiday eating splurges and back on our healthy diets in full force.  I have a couple of books on order that explain IVF thoroughly and how to increase chances for success, so I'm excited to devour those as well...

And this one...

I'll post an update once I get into them and let you know how they are. I really doubt there is a whole lot I will do differently eating or supplement wise going forward with IVF, but I definitely want to learn more about the process and gain a better understanding of exactly what to expect on a scientific level.  Plus, reading stuff about how to be successful just motivates me to do all of the right things sugar, minimal/no alcohol, eating well, getting enough rest, doing yoga, and meditating daily will be mentioned I'm sure. Any extra reminders I can have to do those things is helpful right now. Learning everything I can about a procedure tends to reduce my anxiety when treading into unknown waters as well. I am still trying to ensure we are making the best choices for our situation. I think we are content to move forward with IVF already, but until we sign on that dotted line, I will continue educating myself and asking questions as much as humanly possible. Wish us luck tonight!

Friday, January 4, 2013

I Wanna Scream and Shout and Let it All Out!


The nurse called a few minutes ago to tell us the news. I was shaking like a leaf, heart pounding out of my chest, and started crying of course. They weren't tears of sadness. Nor were they tears of joy. They were tears of complete exhaustion! This cycle began on Oct. 21st and the ectopic is now finally confirmed over at 10.5 weeks. Praise God it's finally over!

All I know is that I'm going out tonight, and if there's a DJ I'm requesting this song!

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!