MTHFR And The Happy Ending

If you have no clue about clotting/gene disorders, and are not generally a medically informed person, you probably think I just abbreviated a nasty word and made it my blog title. However, I will explain.

First, I had another appointment with Doc today. He wanted a full appointment to discuss our test results and determine which course of treatment would be the best.

Let's go over my general results first. We discovered that my ovaries are pretty much dormant on their own. I don't even try to ovulate at all without some kind of outside stimulation. He's not sure why, but he thinks if I get pregnant, the problem will fix itself, and I'll return to my normal, ovulatory self after I deliver, and if I don't for whatever reason, we'll see about treatment then. We also found that as far as hormones, everything is normal baseline. I do look like I can produce a ton of eggs, so that's positive :)

With all of this positivity I was starting to get negative. "What if nothing is wrong, and it's just not happening for some unknown reason?" I said to myself. My biggest fear = the unknown, and I'm trying to do better. But then he said "This is the only thing that came back weird."

He pulled out a piece of paper and told me that I have a double gene mutation. It's called Compound Heterozygous Methylenetetrahydrofolate Reductase. It's called MTHFR for short. Without going into extreme depth and detail, I have a mutation on my A1298C gene and my C677T gene. Those are actually positions on genes, but you get the basic idea. It causes me not to be able to turn folic acid into folate, which is the 'useable' form of the nutrient.

It is also a clotting disorder, so the less grand news is that I have a good chance of having a stroke or heart attack when I get older. However, this

explains SO many health problems I've had, and, since it is in fact a clotting disorder, it explains all of my miscarriages, or at least certainly gives a very good case that it could be the culprit.

There are four types of this disorder, and I have the more popular (as in, more people have this, than the other kinds), and of the four, this is the most serious version of it.

AH-HA!!! So, there IS something wrong with me, this isn't just 'really bad luck', and I actually do have a good chance that with treatment, I'll get pregnant right away. Since the treatment is only one more pill a day to my current 3, I definitely don't have a problem with that.

As far as Dan's results, we were pleasantly surprised. His count came up by 8 million (yes, 8 million.... good job, sweetie. :), and his morphology is better. His motility is still a little low, but Doc says we can work with that. SO, we don't have to pay $500 per cycle to get treatment at this point...

Right now the plan is to proceed with the previous plan, which was Clomid for cycle days 5-9 and I go in for an appointment on the 12th for an ultrasound to see if I have any follicles, or 'follies" as we call them. The goal is for at least one egg to be around 16-22 mm, so that we can then trigger the release of that egg with a shot of pregnancy hormone. Which looks like this!

This whole time I really was thinking I was going to have to do this shot intramuscularly, but ALAS! I get the short stubby little needle instead! Pleasant surprise, after trying four different pharmacies and waiting almost 2 hours (meandering around Walmart AND being entertained is only possible for so long) for my prescription to be filled.

I start the Clomid tonight, so we're praying for at least two follies on Wednesday and obviously pregnancy about two weeks after that :) We're also praying for the new meds and vitamins Doc has me on to not make me totally ill... which has been known to happen to me with multivitamins.

All in all, I'm still loving this doctor, and I'm still learning so much at this point. I've really learned to be content in my life right now. I mean really, who could complain in my situation?? I have everything I need to be extremely comfortable and I'm WAY to the point where I thought I'd never get... Where I really will be okay if I never have children. I seriously never thought I'd say that.

Welp! As always... still praying to be preggers by Decemeber and while we're praying we might as well pray for twins! :)

Love you all, thanks for the prayers and for the read!

Ash, Dan, and FBD