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Need help about MTHFR factor & recurrent m/c's!!!!!!!!!PLEASE!!!!!!

(5 Posts)
Kileyrs Wed 13-Jul-11 03:59:03

Ok so Ive had 5 miscarriages, all the clotting disorder tests, saline ultrasound, chromosonal testing, etc. I have been told there is no answer for me and that everything is normal. The last time me and my husband went to a specialist for tests was last september. Today I went to my regular obgyn for my yearly pap and exam and she was asking where I was at in terms of finding a diagnosis and I explained we have no answers, blah blah blah. Then we start talking and I mention a few tests that I didnt know if I was tested for and mention MTHFR Factor to her. She looks in my chart and tells me yes I was tested for that from her (before she even had sent me to the specialists) and that was positive and that was the reason she had sent me to the specialists. She said there was a good part of the MTHFR test and a bad part of the test and I did test positive for the first part(the good). She really didnt act like this was much of a diagnosis for me though. SHe kinda just blew it off and acted as if many people have this and theres no real explanation that this could be my problem. Im so confused more than ever and so tired of the battle of finding out my problem. IF any body has any idea about this factor or knows anything please tell me. I know a lot of you are probbaly thinking just call her and ask more questions but I always know that a lot of different doctors have different opinions on different things so I want real peoples advice(that have actually gone thru it) Thank you so much!!!!!

CombineArvester Wed 13-Jul-11 15:23:30

Hi I had clotting tests after a late miscarriage. I was told I had that MTHFR mutation but it was heterozygous not homozygous. From my understanding this means I inherited one faulty gene and one not faulty.

My specialist said if you have two faulty genes (homozygous) then you are highly likely to have elevated homocysteine levels and have recurrent miscarriages. If you have heterozygous they do not know the effects of this. My specialist decided to give me a hugely increased dose of folic acid to try to counteract the effects of poss raised homocysteine levels (tbh I think mine were actually raised - there was something on my notes about this). I also have a blood clotting thing (which may or may not be related, I believe elevated homocysteine level increases thrombophilila) - so I was also given heparin and aspirin.

So - is it possible you have heterozygous MTHFR mutation but not elevated homocysteine levels? If you have homozygous MTHFR mutation you ought to be receiving some sort of further help in the form of extra folic acid and or baby aspirin, this was the position my specialist held.

I'm sorry I don't feel like I've been any help to you, my understanding of the whole thing is very vague and it doesn't help that different doctors hold different views.

Please ask to see the specialist again and find out whether you have inherited homozygous MTHFR mutation.

Kileyrs Wed 13-Jul-11 21:36:01

Thank you for your information! I found out today I have two copies of A1298c and negative for the other. So, I understand I am homozygous . I am at disbelief that this test was done in 2008 and since then all the specialists i have seen have never even said one word about this test being positive or taking more folic acid or anything. I came across this test being positive on my own from getting copies of my old lab work from my original obgyn. Ive seen reproductive specialists, fetal medicine doctors, blood specialist. Now im wondering if the blood doctor never even received my old lab work that showed this or if im not understanding it right... ???Im so confused and my hopes are getting up there by the thought that i may finally have an answer...

fishie Wed 13-Jul-11 21:47:21

so sorry you are having this Kileys. I have a not getting pg problem rather than yours. but MTHFR I believe is julia's thing. or her dh. julia.typepad.com/julia/ she has achieved three children!

Kileyrs Thu 14-Jul-11 02:34:35

Thanks fishie!!!!

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