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 blockages...it 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?

22 comments:

  1. You have earned and I hope you have an amazing weekend with DH!! Have fun!!

    I already told you, but I am so happy that pretty much things came out so great! Especially on the fragile X. I know the motherfucker really is a motherfucker, but looks like you already ahead of the game and I am sure everything will be okay. Now take a breath and relax this weekend, since all this TTC stuff will be waiting for you.

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    1. Yes indeed! Going to stay one step ahead of that MTHFR! haha!

      Thanks Amber. This weekend is dedicated to R & R my friend. :)

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  2. These tests are amazing. Can't wait to hear about the consult!

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    1. Isn't it though?! I wouldn't wish this whole journey on anyone, but it's nice there is new technology to improve the IVF process and give couples more options. I honestly wouldn't doubt if genetic testing becomes much more commonplace over the next decade. Actually, I'm going to predict that it WILL for sure. It's only a matter of time before people start electing to do IVF even if they aren't infertile. It's going to happen. There is too much valuable info that can be gained by a simple saliva or blood test and it's totally accessible to anyone. I'll definitely update with the consult from both Counsyl and the geneticist.

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  3. So glad you got this piece of mind and you are constantly a whole bucket full of great information. So excited for you to move on to this next step!

    My hubby comes home tomorrow after way too much traveling and like, you I CANNOT WAIT.

    PS...there is no such thing as overdosing on bubble baths and jazz. Silly, silly girl.

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    1. Yay for quality hubby time! I've got the kitchen radio on rotation... Jazz, spa music, and easy listening. Do NOT enter my relaxation zone if you aren't prepared to relax!

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  4. Yes, I'm still reading. LOL. Great news about your Counsyl test. During my HSG, I had mild cramping but they gave me vailium beforehand which was nice. Interested to hear more about your genetic counseling for PGS. We are going with the company Natera...and really enjoyed getting to learn all about the type of results we will get with the test. That is what sold me.

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  5. I'm glad you are so happy with Natera. My clinic uses Genesis for their PGS. We haven't even spoken with them regarding logistics and all they test for, but I'm sure it won't be hard to convince us of the benefits once we do. PGS seems to be relatively reasonable compared to PGD too...not too bad really when it can prevent quite a few things ultimately.

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  6. I am so glad that things came back looking good overall! It does suck about MTHFR (I thought I was the only one that called it "motherfucker" - at least in my head, but it is definitely a good thing that you know about it and can do something. I'm being tested for it as well with my next labs in a month. I am so happy for you that you are getting everything lined up for a successful IVF cycle, and I think you're smart to speak to the other genetic counselor for a second opinion. It never hurts to be extra sure. Wishing you lots of luck and can't wait to hear updates as you move closer to the goal!

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    1. Glad you are getting tested for MTHFR next month Farra. Yeah, hubby and I both left the last apt. with the genetic counselor kind of thinking, "Well that didn't really tell us too much." There were a lot of vague answers to our questions, and while I do realize there are a lot of unknowns on what is affected by his specific abnormal karyotype that was found, we still felt unsure that she was providing the full picture. So, on we go for a second opinion.

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  7. So glad you got the testing done. Cant wait to hear what they have to say about it!

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  8. So glad ur results came back with no real threat to your future kiddos. Cause yes I believe there will be 1,2 or 3. Now that all your testing is done with just relax and spend time with the Hubbs when he arrives.

    Interesting to know the sizes of the catheters...makes me wonder what size was used for both my HSG. If i have to go back and do it again i will make sure to ask.

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    1. I know you've had 2 unsuccessful HSG's now, and I would not hesitate to ask about what equipment they are using. Maybe the catheter is just too big and it's an easy fix? I hope #3 attempt works like a charm for you. It shouldn't be that difficult!

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  9. So funny about the catheter -- I remember the doc who did my first IUI told me that I should always ask for the "special catheter"... what she called "the Cadillac of catheters", and at first I thought that meant it was really big, but then she laughed and said, "no, it's really tiny!"

    Very fascinating to see your test results, and I'm glad nothing major came back. I'm always intrigued by this MTHRFR thingy - so many women in the IF world seem to have it, eh?

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    1. Yeah, Cadillac and catheter in the same sentence makes for a scary visual. haha! I guess it does make a big difference the way these technicians talk about them.

      I'm pretty intrigued by the MTHFR stuff too, even though I don't know too much as of yet. I do know it's tested for those who have repeated pregnancy loss, and that untreated it can cause pregnancy loss (thus the Rx of Lovenox and aspirin for those who have the diagnosis. There are even online support groups just for women with MTHFR who are TTC. I'm not jumping head first into changing too much of anything though, because Lord knows I really would prefer not to fixate on ANOTHER diagnosis if I can help it. I'm glad to know it's there though, and I'm thankful that so far, it sounds like there's not much else I'll need to do since I already plan to take Lovenox and am already taking the correct type of prenatal. There are way too many crazy things out there. It's a wonder anyone in this world gets pregnant so easily!

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  10. I am so excited for you! That’s awesome that your results came back as great as they did.

    You are always such a great source of information! Do you know if the genetic counsyl is different from karotyping? That’s the last thing for dh to try so we can figure out what’s going on, but it sounds like the genetic counsyl looks at the chromosomes too. I would much rather do that since it’s so much cheaper and you get the results back quickly :)

    Your relaxation zone sounds amazing, btw!

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    1. Hi Sara! Thanks for reading! :)

      No, the Counsyl testing is NOT the same thing as a chromosome analysis. Counsyl testing is tests for specific recessive diseases that have certain genetic markers in your DNA.

      A separate chromosome analysis would analyze each of your karyotypes. This is usually recommended if you've have repeat pregnancy losses or if you are experiencing infertility. Chromosome analysis is different in that it will reveal any XY abnormalities, including aneuploidy, translocations, etc. Chromosome abnormalities CAN sometimes be related to different fertility related issues...especially Male Factor Infertility, as far as I know.

      They are two different things though completely. Counsyl tests for specific genetic diseases, and chromosome analysis looks for chromosomal abnormalities found within the karyotype. I know it's confusing at first!

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  11. Em!
    That's fantastic news! I'm so proud of you that you took the time to get all the DNA testing done prior to IVF. Wonderful news on the HSG as well. I was one of those that found every HSG extremely painful. But, I also had a male perform both procedures and each time I have had bilateral occluded tubes. Good for you that it was painless.
    It looks like we will be IVF buddies after all. I will be doing the mini-IVF as I have heard a number of success stories resulting from FET (frozen embryo transfers) versus fresh. We shall see..

    I'm so thrilled for you and I will be sure to follow your story here. I can't wait to hear about your BFP this Spring! 2013 Baby Train- Here we come!!

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    1. Thank Kelly! I am sorry to hear about your HSG experience and to know you've been through so much leading up to this point. However, I'm super excited for you to do IVF as well! Baby Train indeed. All aboooooard! :)

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  12. Hello,
    I have the MTHFR "disease" as well, which could mean a number of different things. You can be homozygous for C677T, which means you have two "risk" alleles, one from each parent, and no normal alleles (you can only have two alleles total), you can be homozygous for A1298C, again you have two "risk" alleles, or you can be heterzygous for one or both C677T or A1298C, which means for each you have one "risk" allele, and one "normal" allele. Some people content this is the worst MTHFR combination, but no one really knows for sure. Personally, I am homozygous for C677T and normal for A1298C. What this means for me, is that I cannot properly process synthetic folic acid. My whole life I've been low energy, and succeptible to illness. My hair and nails suffer. I also tried to get pregnant for a while and could not. How I fixed my illness was starting a supplement regime. I take L-methylfolate (the "active" natural folic acid), and several B vitamin complexes, which are also in their "active" forms. Part of the methlation cycle that has suffered is the few steps that take folic acid and turn it into more usable forms. So it just floats around and causes trouble. They say synthetic folic acid can block the processing of natural folic acid, but this has not been accurately substantiated. I know that I feel better than I ever have. Your post was from years ago, but if you would like more information on MTHFR, I've become quite knowledgeable with my own experience and have some great resources.

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  13. I am also homozygous for c677t and was wondering if anyone has had successful pregnancies stories that they would like to share.

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