Counsyl Test Results

Cindal · May 2014

So I got my Counsyl test results back in today. I tested positive for MTHFR deficiency on a222v and e429a. Also as a carrier for Prothrombin thrombophilia, a type of clotting disorder ( which makes sense since both my grandmother and father suffer from something we've always defined as mini-strokes, serious if albiet very temporary problem when it strikes, at least for them). Anyways the counsyl report says it isn't serious but that I will need to take extra folic acid since the deficiency causes a problem when processing folic acid, but then a quick google search (I know bad, Cindal for playing dr. Google) brings up a plethora of instances where it causes an increase in miscarriages, birth defects, and clotting problems (which added to the other positive seems bad).
So anyone else positive? What's your RE say? Thoughts in general on the topic?
We go tomorrow to talk to our RE to get our plan and I'm wondering what his thoughts on the topic will be.

BunnyBerry · May 2014

Sorry about your diagnoses! Do you think your RE would be receptive if you encouraged him to look into any literature on the intersection of those two issues?

Rachaeleigh · May 2014

I tested positive for one copy, can't remember exact number at this time. 3 differentt REs have agreed that, at least for me, it hasn't contributed to my losses. I'm currently on no additional meds (bc of that specific issue)
My one Dr explained that the problem tended to occur when levels of cysteine are impacted. Is that the right word? I'm still sleepy. Anyway, my levels of that were fine

Sorry, I won't bump without more coffee next time

Cindal · May 2014

The consult went okay I guess, though I'm feeling a little more down in the dumps than I have been. I actually bailed out of work early because every song on the radio made me want to cry and I do not want to be the crazy lady who has an emotional breakdown at work.
The dr said that having both alleles be affected made it a more serious version of the deficiency. In addition even the blood clotting disorder can be symptomatic even just as a carrier. So if we were to ever have a success he said he would put me on a blood thinner for most if not all of the pregnancy, he threw out heparin and lovenox I believe in addition to a specialized folic acid supplement. That was a little distressing.
Next our test for the retrograde came back negative so that isn't DH's issue. We're both bummed by that as well. Dr. wants to rule out a chromosomal abnormality before we continue on to IVF. He said that if DH does have an abnormality that only 1 in 6 embryos would be chromosomally normal. The others would result in miscarriage or severe defects and that he would suggest doing testing on the embryos to find the unaffected one/s. Since we aren't doing standard IVF but Mini the likelihood that we would get more than 1 or 2 to pick from at all is already small. So unfortunately if the karotyping does come back abnormal, I think that's the end of the road for us.
It's a tough juncture in time for us and I'll admit its hitting me harder than usual.

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