Tuesday, March 1, 2016

Genetic Carrier Screening Results Are In!

As some of you may remember, a couple weeks ago I had my blood drawn for the Recombine CarrierMap Genetic Screening, which checks to see if you are carrying any genetic problems you could potentially pass on to your child. The plan was to test me first, and if anything concerning popped up, then my husband would be tested in order to make sure we didn't carry the same genetic issue. In most cases, as long as you both do not carry the same thing, there is no risk of passing it on.


The results were due in after about 1-2 weeks. I ended up getting an email letting me know my results were in and had been sent to my doctor. It also ominously said that my doctor "requested that I review my results with a genetic counselor". Immediately, I started freaking out! Genetic counselor? That must mean they found something right? Why didn't my RE just call me with the results?

Lots of questions and concerns suddenly flooded my mind.

I did read that they "recommend genetic counseling for all patients, regardless of results", but I wasn't sure if they were just saying that. I then found out that I could have actually accessed my results online immediately when they were available! Great! But one problem... I needed the bar code off of the test kit box. The test kit that I just left on the counter in the lab, which was promptly thrown away. I had no idea there was a number on it I needed! There was nothing about it on the booklet I had.

It seems that there might have been some confusion at my doctors office, since they had just switched to this new test. Someone was supposed to explain the results process to me, but that didn't happen. I did contact the support email for the test, to see if someone could help me set up the patient portal account, but I haven't heard back from anyone yet.

I also frantically called my nurse. Who is amazing, by the way. She immediately went to check my test results, but found that they hadn't received them yet! She said that was unusual. She said everything possible to calm my fears and promised to get me my results ASAP. But apparently, they weren't answering the phone.

But after a couple of hours, she called me back to let me know that... there was nothing wrong! Nothing had been found at all in my genetic testing. Huge relief!

So if you are having any testing done by any of the genetic screening tests, please take my advice and do not freak out if they want you to speak with a genetic counselor. It's just part of the way they do it. My nurse said it's a bit unfortunate because many patients immediately start worrying, just as I did.

I did end up speaking with the genetic counselor, so she could e-mail me a copy of my results. She gave an explanation of what the screening was testing me for (over 300 genetic diseases), and that the entire panel came back negative for me. This means I have less than a 1% chance of carrying any of the things they tested for. She also went through our family tree, to make sure there was no need for any further testing.

Thankfully, it all turned out just fine in the end! I've found that when I get into a frantic worrying state, 99% of the time everything is okay in the end. I guess I just haven't learned my lesson yet. No worrying allowed!

2 comments:

  1. Glad to hear that your test results were normal and that you're on your way to IVF! I have just stumbled across your blog today and immediately read through your timeline. I am sorry to hear that you lost your pregnancy on IUI#3 and didn't achieve success with the subsequent IUI's. I'm currently in the TWW of my first IUI and will know my fate by Thursday, March 31st. I can't explain why but I'm starting to feel as if it was not successful; just not feeling any different than in past cycles when I ended up getting my period. I will try to remain hopeful though! I will be thinking of you on Wednesday when you have your IVF Consult. Best wishes to you!

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    1. Thank you so much! Definitely try to stay hopeful and try your best to not symptom spot. I hear from so many people that they have zero symptoms prior to their BFP! I'll be keeping you in my thoughts and hoping that this cycle totally surprises you and ends up as a BFP! So many people have success with IUIs, and I hope you do as well <3

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