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*Lauren, come in here please!* help needed (interpreting test results)

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  1. #1
    Murphy's Law
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    *Lauren, come in here please!* help needed (interpreting test results)

    Hi All,

    I originally posted saying all of my testing came back clear, which is what my doctor told me over the phone. But right now I just got a copy of my results in the mail and this part concerns me:

    "DNA testing indicates this individual is heterozygous for the C677T mutation and does not have the A1298C mutation. The presence of one copy of the C677T mutation has not been associated with an increased risk for hyperhomocysteinemia or vascular diseases. Consider genetic counseling and DNA testing for at-risk family members."

    What does that mean? Am I at risk or not? Since I have one copy of a mutation, does it cause vascular issues or not? I feel like I'm being misled by my doctor. She says there are no problems but the report makes me uncomfortable. Can anyone help me figure this out?

    *I want to add that I have m/c twice, once at 6 weeks, once at 18 weeks. That's not including a separate genetic disorder to which I lost my first child. Also, with my first child, I bled to the point of passing out. Only when they removed a HUGE clot from my uterus, did my bleeding subside and I started to come around after that.

    We want to TTC again SOON and I want to be sure my ducks are in a row.

    Thanks so much!
    Last edited by Murphy's Law; 05-04-2006 at 06:12 PM.
    ~Laurie~
    Mom to: Marshall 8/16/02-12/22/02
    Murphy born on 01/05/05
    Aiden b/d 01/03/06

    "What big prints your tiny feet have left upon our hearts." ~Amy K-B


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  3. #2
    Lauren2005
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    Hi Laurie

    Okay, this is a clear MTHFR result but its implications are controversial. Keep in mind that I'm just a patient, albeit one who has marinated in IF research for the past year or so. I can tell you that all of my doctors (OB/GYN, RE, RI) believe that one MTHFR mutation of the "C" variety is a positive thrombophilia result. The treatment for one mutation, according to each of these doctors, is one baby aspirin daily for the rest of your life, as well as one Folgard (or its equivalent) everyday for the rest of your life. According to my RE and RI, a heparin product will be needed throughout pg, starting CD6 when ttc.

    Look up "thrombophilia and pregnancy" if you want to see how serious this situation can be. There are many forms of thrombophilia (Factor II Prothrombin, Factor V Leiden, antiphospholipid antibodies, MTHFR) and some doctors believe that a woman must have elevated homocysteine levels in order for a problem to exist. However, some of the latest research shows that homocysteine levels go up in RESPONSE to reproductive problems associated with MTHFR. In other words, by the time the homocysteine levels elevate, it's too late. So deciding not to do treatment based on normal homocysteine levels is risky.

    Dr. Beer classified MTHFR mutations in this level of seriousness:

    2 "c" mutations: most serious
    1 "c" mutation and 1 "a" mutation: next most sterious
    1 "c" mutation: next
    2 "a" mutations: next
    1 "a" mutation: least serious.

    Some doctors don't care about anything but two "c" mutations. Others only care when there are elevated homocysteine levels. My doctors care, regardless, and my protocol is 1 baby aspirin and 2 Folgards (I have one "a" and one "c" mutation) daily forever. I will also take Lovenox daily while ttc (starting CD6, discontinuing with a BFN) and double it with a confirmed pg, then stay on it six weeks after delivery.

    I hope that's helpful.

    Best wishes to you!!!
    Lauren

    P.S. With the history you've described, I would absolutely, positively take this MTHFR matter VERY seriously. If your doctor doesn't, find one who will.


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    Murphy's Law
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    Thanks Sweetie. After researching everything, that's pretty much the conclusion I had come to also. Do you have ANY sources for what/why your doctors believe what they do? I really want to get my OB on board with this. I have already contacted the genetics dept. at our hospital and will hear from them today about this. Hopefully they will agree with me. I'll be calling my OB today as well.

    Should I ask to see a specialist? If so, who would it be, a hematologist, RE? or what?

    Thanks so much Lauren, I KNEW you'd have infor for me!

    ~L
    ~Laurie~
    Mom to: Marshall 8/16/02-12/22/02
    Murphy born on 01/05/05
    Aiden b/d 01/03/06

    "What big prints your tiny feet have left upon our hearts." ~Amy K-B


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    Lauren2005
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    Hi Laurie,

    Let me tell you, I had gobs and gobs of source, until a computer meltdown ate all my bookmarks. I haven't had a chance to rebuild them (and may not, since I finally understand these issues and am working with doctors who do, too.

    Here is one article:
    http://circ.ahajournals.org/cgi/cont...ll/111/19/e289

    Be sure to notice this paragraph in the section on Women's Health:
    "There are certain implications of having elevated homocysteine that are specifically relevant for women. Elevated homocysteine levels have been observed more frequently among women with certain pregnancy complications, including preeclampsia (elevated blood pressure that can lead to dangerous consequences), placental abruption (where the placenta detaches from the uterus), recurrent pregnancy loss, and giving birth to a small, low-birth-weight baby (called intrauterine growth restriction). However, medical research suggests that elevated homocysteine levels may be a consequence of these complications, rather than the cause."

    That paragraph explains why normal homocysteine levels can be falsely reassuring for women ttc.

    I would recommend Google-ing "thrombophilia and pregnancy" and "MTHFR and pregnancy." Take the relevant literature to your doctor. Avoid sites like this one (great as it is, your doctor won't be convinced by other patients' discussions) and focus on the medical sites.

    Then look up "heparin and pregnancy." Focus on the sites that explain why heparin is safe (and relatively commonly used) throughout pg.

    Last, visit the Yahoo immunology group. Join this group with a free Yahoo e-mail account. Access their files and find the information on thromobphilia and heparin. Some information can be found in the section about reserach and studies. There are SO many studies showing that pg in thrombophilia patients is MUCH more likely to succeed when the woman is on heparin. You can find them in the Yahoo group. it may take a few days. We're still recovering from Dr. Beer's untimely passing, and there are over 1,000 members of that group. So the site "goes down" from time to time. http://health.groups.yahoo.com/group/immunologysupport/

    I hope that helps. Good luck!

    Lauren


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    Murphy's Law
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    Thanks Lauren,

    You have been very helpful.

    In the article you gave me though, it still says that having only one mutation does not cause the elevated levels and basically doesn't present a problem, which is what my own doctor is telling me also. This leads me to believe she won't be willing to do anything further with this.

    I am going to call her today, and am currently waiting for calls back from a geneticist and a hematologist (dd's ped. is a hematologist so I'm asking him). I'm hoping I can find some more answers.

    Thanks again!
    ~Laurie~
    Mom to: Marshall 8/16/02-12/22/02
    Murphy born on 01/05/05
    Aiden b/d 01/03/06

    "What big prints your tiny feet have left upon our hearts." ~Amy K-B


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    Murphy's Law
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    Lauren, your pm box is full! This is what I was trying to tell you:


    So I joined the Yahoo board and posted a message. How will I know there are replies? I'm so confused with that board as I've gotten used to the format of this one and a few others. WIll I get emails telling me there are replies? And then how do I access them?

    Thanks.
    ~Laurie~
    Mom to: Marshall 8/16/02-12/22/02
    Murphy born on 01/05/05
    Aiden b/d 01/03/06

    "What big prints your tiny feet have left upon our hearts." ~Amy K-B


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    Murphy's Law
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    I just spoke with my ob/gyn who was less than helpful and just didn't seem to have the time to talk to me today or the time before that, when I needed to speak with her. She also tells me I'm fine and she won't do anything else for me without more information. Oh yeah, and I have to get the information, not her. (I'm not a doctor!) She also says my concerns are not valid and tells me I'm fine, because that's what my lab slip says. I've had it and I'm switching ob/gyns. I've also contacted my primary care doctor to get a referral for a RE and a hematologist.

    I feel very defeated today.
    ~Laurie~
    Mom to: Marshall 8/16/02-12/22/02
    Murphy born on 01/05/05
    Aiden b/d 01/03/06

    "What big prints your tiny feet have left upon our hearts." ~Amy K-B


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    Lauren2005
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    Hello!

    Actually, the Yahoo board hasn't had "little activity"... that's what it looks like, but if you get past the intro page, you'll see it's actually been overloaded and thus has gone down (i.e. The page is broken from time to time.) This has been the most active week on the board in years (over 400 posts in the past 5 days alone!!) People are having lots of trouble accessing it Hopefully as things calm down, it will work again.

    Yes, that article I sent you only refers to homozygous mutations as causing a problem. But, it talks specifically about elevated homocysteine levels being a result, and not a cause, of MTHFR-related losses. You do need to build your files full of many articles, each one containing a piece of the puzzle.

    As I mentioned an a PM to Laurie earlier today, doctors have to see credible, written proof in order to change their protocols. They don't tend to do it just because we really want them to. So researching "MTHFR and pregnancy," "thrombophilia and pregnancy," "heparin and pregnancy," "heparin and thrombophilia," "heparin and MTHFR," etc., is critical. The Yahoo group's files (which you should still be able to access, if you are a member) contain fabulous collections of studies on heparin (or the low molecular weight heparin product Lovenox) to resolve thrombophilia issues during pg. Please look there.

    In terms of how the posting works on that site, you only get e-mails if you sign up for them. Otherwise, you go to the board and see the latest responses. If you want to know who has responded directly to your thread, click on your own original post, then scroll down, and you'll see links to responses. It's not as good a system as FT, but it does allow you to see ALL threads and sometimes that can give you a new perspective or start a new thought process for you...

    Hope that helps,
    Lauren


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    Murphy's Law
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    Thanks Lauren. Yep, my doctor wants written credible evidence that heterozygous C677T mutation can be dangerous for me. Until she sees it, she will do nothing. In the meantime I am looking for new doctors. I am having a terrible time finding anything though.

    Thanks for the info on the yahoo boards. I'll try again later.
    ~Laurie~
    Mom to: Marshall 8/16/02-12/22/02
    Murphy born on 01/05/05
    Aiden b/d 01/03/06

    "What big prints your tiny feet have left upon our hearts." ~Amy K-B


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    Hey Murphys

    Hello Murphys

    Just thought I would interject here. I am Homozygous (2 copies) of MTHFR, and let me tell you...I cannot find a RE that will do anything about it! I was fortunate enough to have a consultation with Dr Beer before he passed away. He told me blood thinners (absolutely) and 1 Baby asprin..plus he told me the exact amount of B6, B12 and Folic acid to take. Dr Beer said I could take over the counter stuff instead of folgard.

    Ive had 2 losses, and all these RE's push is IVF. I refuse to do that until the MTHFR is addressed, and I also have some other autoimmune stuff too. Ive never had a baby, because of these losses. You could call Dr Beers office and ask for a list of collaborating physicians. Thats what I got and im going from there. Also I was in a live chat session with Dr Sher from the Sher Institute. I point blank asked about the MTHFR (dosnt apply in your case), but he said if your homozygous (me) you NEED blood thinners for pregnancy. Not once did he ask about my homocystine levels, which are fine! I set up a phone consult with Dr Sher.

    I have not had any luck yet looking for the MTHFR info on the Immunology site that Lauren mentioned, and my last post wasn't even answered. But I will try again soon.

    Good Luck, just wanted to let you know about my experiences.

    JLmee


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