Results and More Testing

This blog is all about female reproductive stuff and pregnancy. If you are squimish and grossed out by girly things, you should probably move on to a different post…

 

The results of my testing came back with some really positive stuff, and some sort of strange stuff.

The serious genetic conditions that run in my family (hereditary angioedema, lupus, and sjogrens) were negative, my thyroid was normal, but my anemia was fairly serious, and a genetic mutation showed up.

Methylene tetrahydrofolate reductase (MTHFR) is an enzyme that processes amino acids. This process is what allows your body to create certain proteins. The mutation in this gene makes it so that my body doesn’t  (or inefficiently) metabolize folate (folic acid – B9).  This means that what I need to aide in DNA synthesis, amino acid metabolism, and generating methyl groups isn’t sufficiently available. Essentially, it is a blood clotting issue, causing your blot to clot too well and can lead to early heart attack or stroke.
Now, this mutation is fairly common, for just one of the two genes you have. My issue is that the mutation is showing in both genes. If it is just one, it isn’t a big deal as the other still functions. However, when both genes have the mutation, it starts to cause problems.
So, I am now on folic acid supplements, and likely will be for the rest of my life. The problem with this is, folic acid, long term, can build up in your arteries. Additionally, it often masks anemia, which I struggle with. So, there’s that.
Oh, and this issue has absolutely nothing to do with my miscarriages.

 

 

So, the doctor scheduled an SIS (Saline infusion sonohysterography ) (transvaginal ultrasound where they fill my uterus with saline). It was one of the most horrible procedures I have ever had done. Firstly, it was a very crowded room, as they had just gotten a brand new ultrasound machine so they were all excited to use it, as I was the first patient they had for it…so, the room was me on the table, my husband at my shoulder, the doctor, his resident, and the technician from the company who made the machine who was there to show them the neat, new features. Secondly, the doctor had a lot of issues getting the saline catheter in, he inserted the probe, they started the machine, took some photos, the machine totally froze and had to be rebooted…so I sat there with this probe in, awkwardly and in pain while this computer rebooted…then, they injected the saline and tried to get some other photos, however, the catheter got caught on the probe and then ripped out (with the balloon still inflated). So yea…that was painful. *sigh* So, they quickly got some photos as the saline is quickly pouring out.

Then, the results were that I had a normal shaped uterus, a small polyp that needed to be removed, and a great uterus volume. (He was so excited that the machine measured that automatically…)

So, we scheduled a hysteroscopy and polypectomy (which I actually had two weeks ago, and will write about in my follow up to this). And then my husband took me to Olive Garden, and I proceeded to cry and be a little baby about the pain…and bleed for 3 days.

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