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?