Discussions By Condition: Medical Stories

MTHFR Help?

Posted In: Medical Stories 3 Replies
  • Posted By: samanthaflemings
  • May 14, 2008
  • 08:57 PM

In 2005 I recieved a blood clot on my brain. At the time they found that i was pregnant. I was at the best hospital in the state and we both just about died. the doctors couldn't get it to disolve and didn't know what caused it then finally one of the interns at the medical school nearby convinced the doctor to test me and sure enough i had mthfr but it didn't matter by that time we were almost gone. but with the sevre treatment they gave me rapidly save our lives. although the doctor that saved me was my high risked ob/gyn since i have been released from his care i can not get a doctor to even consider seeing me as a patient i really need medical care and this is my last chance anyone that can help me or may no someone who can please let me know.

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  • I don't know if i still have the clot. Since i lost my doctor i can't find one to take me on as a patient. i still get the sever headaches and have short term memory loss i would like to find a doctor to treat me know matter where i may have to travel. as of right know i can't even get my cumidin perscribed to me and my previous doctor said i should be on it for the remainder of my life.
    samanthaflemings 1 Replies Flag this Response
  • I don't know if i still have the clot. Since i lost my doctor i can't find one to take me on as a patient. i still get the sever headaches and have short term memory loss i would like to find a doctor to treat me know matter where i may have to travel. as of right know i can't even get my cumidin perscribed to me and my previous doctor said i should be on it for the remainder of my life.Samantha,I don't know where you are located and whether you have found a doctor to treat you. I'm in southeast TN. Terry W. Smith in Chattanooga is the most knowledgeable doctor with regard to this condition and human biochemistry in general in this area. He diagnosed me with a double MTHFR mutation in early 2008. I have a C and an A mutation (abbreviation for the longer number/letter mutations). Coumadin is NOT the answer for this condition. There are now 3 Rx drugs on the market by Pamlab to treat these mutations. They are Metanx, Cerefolin, and Deplin. Metanx is a combo of B-6, B-12, and L-methyfolate (the final product that is normally achieved by taking folic acid or consuming high folate foods). Cerefolin has B-6, N-acetyl-cysteine, and L-methylfolate (I believe that's right). And, finally, Deplin is straigh L-methylfolate. I take 15 mg of Deplin and a low dose aspirin daily per MD's instructions. I have never had a cardiovascular problem, but have had problems with anxiety and L-methylfolate is used in the synthesis of neurotransmitters, as well. That's why I was tested. My homocysteine is and always has been in the normal range, but the doctor wants it lower. He added the supplement Trimethylglycine (TMG). Don't fully understand that, but it's a methyl donor and will help to lower homocysteine. I also take a high dose multi B vitamin in addition to a lot of other supplements. I am constantly explaining to other doctors what this condition is....a genetic deficiency of methytetrahydrafolatereductase...the enzyme that makes that last conversion to L-methyfolate. I would hope you have a copy of your test results to take to every doctor you see. If you can't find a doctor who understands this, at least find one that is willing to listen to you, write the script for one of the above drugs, and regularly check your homocysteine levels to make sure they are in normal range (preferably toward the middle). Hope this is helpful to you if you haven't already found a doc. I still have questions about whether my double mutation effects certain things and find it frustrating that no one knows. This seems hard to believe, as 1/3 of the population has at least a single mutation. I'll just keep searching for more information.
    Anonymous 42789 Replies Flag this Response
  • Hi! I was just diagnosed yesterday with MTHFR by my OB doctor. He gave me a RX for Deplin, but that was really it, no other advice. What else should I be doing and should I have frequent check ups? what kind of doctor should I go to? I just found out I am pregnant too. His office is closed today, so I will be nervous until monday when I can call him. Any thoughts/help?thanks, feeling a little overwhelmed....L
    Anonymous 42789 Replies Flag this Response
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