MTHFR Gene Mutation

Still trying to figure out a cause for my two back to back MCs, my obgyn offered to do the complete blood mark up to test for clotting issues, lupus, or any other gentic reason tha tmay have caused them. She said bc they don't consider MCs "recurrent" until you have 3 in a row, I had the option to TTC again and see if I have another one (which would ultimately end up in me having the bloodwork done anyway) or have it done now. Obviously, I just opted to do it right away. Why wait and see if I have to go through all that again? Well, as all the results were coming back everything was looking normal or negative (which were good signs, I guess... no news it good news maybe)? Then a result came back positive for one copy of the C677T mutation. I have never even heard of this, but apparently it has to do with clotting. I found more information baout it here http://lifebalanceinfertilitycoach.wordpress.com/2008/10/07/the-mthfr-tutorial-genetic-mutation-and-cause-of-miscarriage/ Has anyone else ever heard of this or have it? Apparently, it's "fairly common" in about 44% of the population being heterozygous, which is what I have. I have an appointment tomorrow to follow up about my cyst and I will ask her about this as well... Ugh. On one hand, I almost wish the MCs were just a fluke of bad luck and there's nothing wrong with me, but I guess I'm glad to know there's some kind of possible explanation. I'm interested in seeing what my dr has to say will be the treatment for me during pregnancy.

Posted on April 7, 2013 at 3:53 pm
lex484
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lex484

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(4) Comments

Claire27
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06/19/2010
Claire27

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I only skimmed the article because I have clients, but I will go over it in more detail later. The good news is there IS a treatment. As a breeder of dogs this is not a genetic disease that will cause your children to suffer. Will treatment suck? Probably, but honestly we are lucky to live in this day and age when the gene has been discovered and a treatment is available! *Hugs* and I would look at this as good news! Its not the best, but it is treatable!
Posted on April 8, 2013 at 5:31 am
lex484
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07/02/2011
lex484

lex484

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I got back from the dr a little while ago and she seemed pretty unconcerned about the lab finding (in a good way). She said since I only have one copy, which is pretty common, it's not much to worry about. She said basically the treatment if you even want to calll it that, is more folate. I told her I already take a prenatal with 800 mcg of folic acid which she said is a perfectly fine amount. I think she's still elaning towards the 2 MCs being bad luck or a fluke. Since my cyst is still the same size, I'm following up in another 6 weeks for an u/s to see if it has shrunk. She's hesitant to just go in and remove it if we don't have to, which I am ok with, since it has caused me no pain. If it weren't for the u/s for the MC, I would've never even known it was there, and she seems to think the cyst and MC have nothing to do with each other in terms of cause and effect. Fx it does shrink and I won't need the surgery. I'm glad the lab finding didn't seem to concerning, but still nervous that basically we'll have to just keep our fx that the next bfp we get sticks.

Posted on April 8, 2013 at 11:58 am
NicoleJuliette
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11/12/2011
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NicoleJuliette

I've never heard of that but it's sounds that is manageable and completely common! Just continue what your doing and I'll send some positive vibes for a shrunken cyst and a sticky BFP. Keep us updated! So happy that overall everyone seemed pretty unconcerned, that's good news!

Posted on April 10, 2013 at 3:05 am
lex484
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lex484

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lex484

Thanks! I'm hoping for the best :) or at least better.

Posted on April 10, 2013 at 11:27 am

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