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Old Nov 10th, 2011, 01:07 AM   #1
zozo28
Pregnant (Expecting)
Active BnB Member
 
Join Date: May 2011
Location: South Australia
Posts: 147

Diagnosed today as MTHFR heterozygous


Hello, I am currently 5 weeks along and I had tests because I have previously lost two babies early on.

I got the results back today and I have a gene mutation (MTHFR) which means I am heterozygous at position 677 and 1298. This can lead to blood clots, placental abruption, and recurrent miscarriage.

My doctor didnt recommend any treatment (he is just a young GP and didnt seem to know too much about it, he even told me that actually) but from looking online it seems many people (pregnant women) are on injections of heparin, or luvenox daily for this exact condition. Apparently you also need a really high dose of folic acid via presciption, because the condition stops you processing folic acid via normal digestion.

I called the high risk pregnancy unit at my local hospital who said I would need treatment, but they cant fit me in for two weeks. I lost both of my last two pregnancies between 4 and 5 weeks and I am currently 4+6... Its so frustrating! They just didnt care when I explained my problem, and said that is their next appointment.

So I just made an appointment to see a private obstician next tuesday which is going to cost me $360.

Does anyone else have this condition, and if so, what treatment did you get for it?

Thank you


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Old Nov 10th, 2011, 21:50 PM   #2
Holly TH
Mum (Mom)
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Join Date: Sep 2011
Posts: 24
I am so sorry for your losses.

Because you are heterozygous for the MTHFR polymorphism, you have a limited abiliity to break down synthetic folic acid into its active and usable form, L-methylfolate. This increases your risk for folate deficiency induced pregnancy complications. Women with MTHFR have also been shown to have an elevation of homocysteine concentrations of approximately 20%. An elevated homocysteine level is an independent risk factor for the development of occlusive arterial disease in the coronary, peripheral and cerebral vessels as well as peripheral neuropathy.

I work with NeevoDHA, a prenatal vitamin indicated for women with MTHFR. It contains L-methylfolate which bypasses the MTHFR polymorphism. It is 7 times more bioavailable than synthetic folic acid. It increases blood folate levels and decreases homocysteine levels more effectively than folic acid.

If you are looking for other women who have been in your shoes you might want to check out the forums on babycenter. There is a large group called Lovely Lovenox Ladies. Almost all of them have MTHFR and repeat pregnancy loss. They have a lot of wisdom to share.

I wish you the best of luck for a happy and healthy pregnancy. The sooner you start on the extra folate (preferably L-methylfolate), the better.


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