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Introducing self dx MTHFR double C677T

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  1. #1
    kcmjpm23
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    Question Introducing self dx MTHFR double C677T

    How's that for a header? I'd never of thought of it in a million years.

    My name is Kelly (just about 35) and I married to my DH (male factor) and I have a bio son who 5.5. Yes, that's correct a bio son. The only complication I had during that pregnancy was severe hyperemis (morning sickness). Because of that, I stopped taking all vitamins and supplements as of week 6 and never took another.

    So you can imagne my shock as I type this infront of my test results saying I have the double mutation of MTHFR C677T. We had been under fertility treatments for a second child and determined last summer that my DH has a low sperm count. One round of artificial and I was preggars and sick. I could get down one folic acid 400mcgs a day. That's it. ANd some crackers and tea and cheese. Needless to say I miscarried at 7.5 weeks. This was my second miscarriage. The doctors all told me that it's probably just mother nature doing it's 25% thing with babies. But my RE did want to test further because it was #2 loss. The rest of chromose, autoimmune tests are not in.

    So I've read alot of threads here on this. Which are amazing! Many thanks. But I do have some questions. My RE wants me to see a hemotologist. Anyone else get this referral? I understand the fertility implications but now I am very concerned about the life long implications for me and potentially my brother and my sister. Any websites about the effects of this gene mutation and likelihood that siblings can share it?

    Also Can anyone recommend a reproductive immunologist in Philadelphia? Is there one at Penn?

    HEre's the other problem. I get severe hyperemesis (super bad morning sickness) when I am pregnant. I dropped 25 lbs and was hospitalized 2x with my son. My last preganancy when the hormones really got working I dropped 8 pounds in about 10 days. It's kind of scary. So are there options with that? Is the Folgard injectible?

    And here's what I don't get at all, and I don't know if anyone knows this. Why would taking large amounts of folic acid work, if the body isn't utilizing it right anyway. Wouldn't it just all leave my system without doing it's work?

    Any books on this? That explain this in layman's terms. My head is even swimming from the discussions here. I guess cause it's all so new.

    Thanks,

    Kelly

    DS who is 5 (who really is a miracle child!)
    lost little angel 4/1/04
    lost little angel 11/29/05


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  3. #2
    kcmjpm23
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    My post up there may sound a bit over the top

    For that I apologize, yesterday I was in shock. Shock.

    Today, I am confused and could just really use some guidance on this. I am really afraid of the medicine regiment given my history.

    And at this point, I am just ready to give up on fertility all together. But that's today.

    Kelly


  4. #3
    SomedayMommy
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    I just saw that you are really looking for help. I see people talk about MTHFR on the immune issues board. You may get a response there.


  5. #4
    Lauren2005
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    Hi Kelly,

    Sorry for the delay in responding. MTHFR may seem like a big-deal diagnosis at this moment, but there are many, many of us here who have MTHFR mutations. It's not that big of a deal, really. You just need to take it seriously and follow the treatment. If you are treated, then the risks go away.

    Remember, this is genetic. That means YOU got here somehow. Actually, all of us did! Anyone who is homozygous MTHFR (two copies of the mutated gene) had a mom with at least one mutation! So while it is WONDERFUL that you have your healthy first child, it's not unbelievable or even completely uncommon. You were certainly very fortuate about this! In spite of your beloved child, this problem can still be the cause of your later losses (so very sorry about these ) so you will need to do the appropriate treatment.

    Definitely come over to the immune issues bulletin board. MTHFR is common there (even though it's genetic, how your body reacts to it is an immune issue.) Also, please note that your two losses may have triggered immune problems that didn't exist before. You will probably get the advice on that board to have full and complete immune testing. This would be important for your general health, not just fertility. Giving up on fertility won't make your MTHFR issues go away. Only treatment will do that.

    For my MTHFR mutations (I'm compound heterozygous, meaning one A and one C mutation), I'll take one baby aspirin and two Folgards everyday for the rest of my life. When in cycle, I'll use Lovenox (low molecular weight heparin.)

    It seems overwhelming right now, I know. But don't worry. Just take the medicine (high-dose folic acid and baby aspirin) that you are told by your doctor to take. Remember that MTHFR is linked with Alzheimer's disease, DVT, heart attack, stroke, and all other blood-clot-related issues. It's not just about fertility. Be very, very glad that you have discovered this problem! The babies you lost may have saved your life (seriously.) So you can now get on this necessary medicine.

    All the best to you, and see you on the immune issues board, perhaps!

    Lauren


  6. #5
    kcmjpm23
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    Thanks so much

    Thank you ladies. I appreciate the support. I am going to post over at immunologic issues and ask some of my questions.

    Your support means a lot!

    Thanks, Kelly


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