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Potential MTHFR. help and general advive please!

Discussion in 'Detox: Methylation; B12; Glutathione; Chelation' started by cathwaaa, Jul 28, 2013.

  1. cathwaaa

    cathwaaa

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    Hi All,

    I've been reading these boards for a while now but have never posted until now. There seem to be so many knowlegable people on here that I wondered if anyone could help me please?

    I've been struggling with health for quite a few years now, and most of that time it has felt as if I am alone. My doctors here in the UK seem to think I am either making up my illness or that it is all in my head. Whatever they think, they have offered me no help. So thanks for this board!.

    I have made a lot of progress over the last few months but can't seem to stay consistently well enough to be able get my life back.
    Brief History: 32 year old female. Been very ill for last few years (roughly 8 years where I have been really struggling with illness but I think I have been affected in one way or another all my life) and have been unable to work for over 3 years in the last 5, and have found it extremely difficult the rest of the time. I have also thought for quite a few years that I probably have always had some form of autism but have never been diagnosed or even mentioned this to a doctor. Diagnoses have so far been IBS-C in about 2004, endometriosis in 2009 and CFS in 2012. In my immediate family we have lots of health issues such as depression ( at times seems similar to bipolar or manic depression), anxiety, thyroid disorders, diabetes, dyslexia, severe allergies, asthma, vitiligo, and my paternal aunty has multiple sclerosis type symptoms and is largely in a wheelchair.

    I have made great progress through lymph drainage massage to help me detox, a virtually paleo, organic diet, filtered water, high quality vitamins and minerals, cleanses and probiotics, and just by generally paying attention to what goes into my body and how I feel. My problem is I get periods of feeling great for a week or so but I can't seem to sustain it. I have always had issues with my menstrual cycle and this seems to be a great barrier to feeling well. I get Ill leading up to and during menstruation, but also mid cycle and also at times that I can't seem to explain. I feel great and truly healthy for a short while if I try a new supplental regime, but I can never sustain this feeling for longer than a week or two, so it is clear I have not been addressing the true cause of my symptoms.

    I recently got a metabolic analysis done from Genova diagnostics, as I was interested in the MMA marker as I thought I had a severe b12 deficiency and wanted to try to convince my doctors to give me methylB12 injections ( blood levels have been between about 100 and 200 for as long as I've been Ill and getting blood tests, but my doctors don't think this is a problem because I am not anaemic- anymore). When I got my results back they show that I am basically not processing b vitamins especially folic acid, and I have a high need to supplement. I have been supplementing with very high quality and high dose b vitamins for around a year, and my diet is very good so I couldn't understand it. I knew that I have problems with an under active thyroid (my doctors don't believe this either with TSH of 7.07 and T4 between 11.5 and 12.5) and was told that this can stop you absorbing nutrients from food but I was a bit stuck as to why it was only b vitamins. My nutrionist took one look at this test and mentioned MTHFR and suggested I try methylfolate as he thought it would really help. I read up a bit on MTHFR and it was like everything fell into place. I had worked out that I had been having problems with all these seperate areas (hormone regulation, immune system, thyroid, mental and cognitive function, nutrient absorbtion, and methylation but thought that this was just a case of having low b12 and didn't really understand the process), and have been trying to address them through diet and Supps, but MTHFR would potentially explain them all. Phew! Anyway I have sent off for my 23andme test and am anxiously awaiting my results. Eep! In the meantime, I just wondered if anyone could offer any advice on how to progress from here please? I know this is difficult without knowing if/ what mutations I have! I have been trying methylcobalamin on and off over the last few months to address the b12 issue myself, and have recently tried small doses of methyl folate but again, can't sustain health. I think it sounds like I have been over methylating (symptoms of fatigue, muscle pain and weakness, dizzyness on standing, neck and shoulder pain, ear pain, swollen glands, depression, anxiety and insomnia) but the symptoms are the same as my normal symptoms so it is so difficult to know. I have tried small amounts of niacin which helps for a while but basically think I am swinging between being under and over methylated. Maybe! Its all so hard to figure out especially with brain fog!

    I will post my genetic results when I have them but would be grateful for any advice in the meantime. I am just so confused about supplementing now that I don't know what to do, and am scared of making myself worse again after making so much progress. I can post my metabollic analysis results if this would help. Thanks so much in advance.
  2. Bluebell

    Bluebell Senior Member

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    Hi Cathwaaa,

    Much of what you say reminds me of my own experience.

    I shared a little about my experience in this thread: http://forums.phoenixrising.me/inde...-i-would-be-grateful-for-some-guidance.23975/. Maybe some of the advice that I received will be "food for thought" for you too, as it was for me.

    I know what it's like to have doctors who don't listen or take you seriously, and who act blase about symptoms and test results that are clearly abnormal.

    You will know a lot more about what to do once you get your 23andMe results back.

    In the meantime, there is a lot of information in this list of methylation resources: http://forums.phoenixrising.me/inde...tional-links-about-methylation-and-b12.23974/ (scroll to the bottom for the most complete list)
  3. Bluebell

    Bluebell Senior Member

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    By the way, some of your symptoms and pains/aches while you are taking the methylation supplements could be due to a lack of potassium, which is called hypokalemia. This can come on quickly, and become serious, even life-threatening in certain rare cases. Dietary intake of potassium in foods is often not enough when taking the methyl versions of B12 and Folate. You may want to do a search on this site for the relevant keywords and read up about the issue. They say that hydroxycobalamin requires much less potassium than methylcobalamin.
  4. cathwaaa

    cathwaaa

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    Thanks for your response Bluebell,all that is great information. Potassium thing makes sense also, will have a read a maybe try some. Thanks :)
  5. cathwaaa

    cathwaaa

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    Hi I've got my 23andme results back and I am Heterozygous for C677T, and seem to have lots of other stuff going on which I am till trying to get my head around! I would be really grateful if someone could help point me in the right direction with this stuff as I think I must have also been born with a dodgy science gene, because all this makes my head hurt :(. Are any of these other mutations significant at all? Thank you so much in advance!

    Cathy

    Gene & Variation rsID Alleles Result
    COMT V158M rs4680 AG +/-
    COMT H62H rs4633 CT +/-
    COMT P199P rs769224 GG -/-
    VDR Bsm rs1544410 CT +/-
    VDR Taq rs731236 AG +/-
    MAO A R297R rs6323 GG -/-
    ACAT1-02 rs3741049 GG -/-
    MTHFR C677T rs1801133 AG +/-
    MTHFR 03 P39P rs2066470 GG -/-
    MTHFR A1298C rs1801131 TT -/-
    MTR A2756G rs1805087 AA -/-
    MTRR A66G rs1801394 GG +/+
    MTRR H595Y rs10380 CC -/-
    MTRR K350A rs162036 AA -/-
    MTRR R415T rs2287780 CC -/-
    MTRR A664A rs1802059 AG +/-
    BHMT-02 rs567754 CT +/-
    BHMT-04 rs617219 AC +/-
    BHMT-08 rs651852 TT +/+
    AHCY-01 rs819147 TT -/-
    AHCY-02 rs819134 AA -/-
    AHCY-19 rs819171 TT -/-
    CBS C699T rs234706 AG +/-
    CBS A360A rs1801181 AG +/-
    CBS N212N rs2298758 GG -/-
    SHMT1 C1420T rs1979277 GG -/-
  6. Bluebell

    Bluebell Senior Member

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    Hi Cathwaaa,

    I don't know enough to help others analyze their specific 23andMe results, but I have a few thoughts about steps you can take, many of which perhaps you have already done:

    -Go to Dr. Ben Lynch's site called www.mthfr.net to learn about your heterozygous "+/-" result for C677T. His site concentrates on C677T mutations.
    -Watch his video about MTHFR on his seekinghealth site

    -Watch Caledonia's very brief videos that explain methylation

    -Run your 23andMe data through GeneticGenie's free analysis program, if you haven't already done that.

    -Read some of the documents by Dr. Amy Yasko about how she goes about treating the mutations that you have.

    -Read what the "heartfixer" site says about your particular mutations.

    -If not many people here see your thread and respond to it, read other people's 23andMe results threads from the past, and note if they have similar mutations to yours, and what advice other people gave them about those particular mutations.
    [It seems to me that now that it's the middle of the summer, there aren't as many participants on the forum as there were in the spring, when I first joined it. So there are fewer people making comments at the moment.]

    All the resources that I mention here are listed in my big list of methylation links (it can be clicked on from my signature line below).
  7. ahmo

    ahmo Senior Member

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    Bluebell, your list of links is wonderful. Thank you. ahmo
  8. Bluebell

    Bluebell Senior Member

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    :) I'm glad you like it! :balloons:
  9. cathwaaa

    cathwaaa

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    Yes Thank you much Bluebell that is great info. I've done a few of these but still gives me lots to be getting on with. I'm so glad to finally have some answers after being told nothing is wrong for so long. At least now I have something definite to read up on. Thanks for your help :)
  10. Valentijn

    Valentijn Activity Level: 3

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    I've deleted the -/- results, and crossed out the remaining results which aren't shown to have any impact on gene function.

    Your COMT version isn't the fast one, but it's not the slow one either. It's possible that you'd have problems with high doses of methyl-containing supplements, but doesn't seem likely based on this information.

    Similarly your VDR isn't the fast version, but that probably isn't a problem. Combined with the normal MAO and hetero COMT, there's no indication here of likely neurotransmitter issues.

    The MTHFR C677T has a significant impact, even when heterozygous. Your methylfolate production is probably at about 65% of normal, so supplementing methylfolate is a good idea.

    Your MTRR A66G indicates problems involving B12, and supplementing that may be helpful. Because your COMT and MAO aren't problematic, you might be fine with methylB12.

    Your BHMT-08 and CBS 699T might each contribute to elevating your homocysteine a bit. Chronically elevated homocysteine can cause some serious health problems, so it might be a good idea to take B6 to help the CBS pathway in lowering the homocysteine.

    SUMMARY:
    B12 is indicated, either as methylB12 or hydroxoB12. If doing high doses of methylB12, be careful with potassium issues that usually pop up.

    Methylfolate is also indicated, though a normal dose is probably sufficient.

    B6 may also help if your homocysteine is indeed elevated.
  11. cathwaaa

    cathwaaa

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    Thanks Valentijn! That's great, didn't know where to start trying to understand my results. Will see how it goes..
  12. cathwaaa

    cathwaaa

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    Hi, I've been taking a supplement that has 800mg methyl folate, 1000 cyanocobalamin with Intrinsic factor, 25mg pyridoxine HCI, zinc choline and betaine. I've been having lots of lower back pain and dark and smelly Urine even though I've been drinking lots of water. Also been feeling quite fatigued. Its not so bad but I was just wondering if this is a normal reaction to starting methylation protocol and if it will pass, or if I should stop. Any advice would be appreciated! Thanks
  13. caledonia

    caledonia

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    I would avoid cyanocobalamin, which is synthetic. If this is an oral tablet, and not a sublingual, the B12 portion is only absorbing about 2%. I suggest sending this supplement to the "cabinet of lost supplements" and starting over.

    I would start first with addressing the gut. I had to stop my methylation supplements after several months to address this, so you might as well learn from my mistake and get it out of the way first. There are many gut bugs which can cause various gut problems, including IBS and leaky gut. Leaky gut is what causes the high need for potassium and/or magnesium when starting methylation. This can become a very dangerous situation, so better to prevent it.

    I'm still learning about what to do for the gut, but the basic procedure is to do two stool tests - the Metametrix GI Effects stool test and the Doctor's Data Comprehensive Stool Analysis. This will tell you exactly what gut bugs you have. Then you use various herbs to kill off the bugs. The Metametrix will tell you what herbs will work for you. Then you rebuild the good bacteria with probiotics, and also take some nutrients to help the stomach lining repair. This can take several months. If you are unfortunate enough to have helicobactor pylori, it can take longer than that, but I think you can go ahead with methylation while you're still treating it.

    Then you have one First Priority mutation, which is CBS. You have mutations on both genes, so it would be a good idea to at least check your urine sulfate levels to see if this is expressed. If you get an anxiety/stress response from methyl supplements this is another clue that this is expressed. If this is the case, you'll need to spend a couple months doing the CBS protocol, so you'll be able to tolerate methyl supplements. Heartfixer has a good summary of how to do that.

    Then finally you get to methylation. For MTHFR, you'll need some methylfolate for sure. Then some B12 for the MTRR (B12 recycling). For your COMT and VDR combination, Yasko suggests hydroxycobalamin and adenosylcobalamin, and not methylcobalamin, otherwise you can get mood swings.

    You have a lot of BHMTs, so some TMG and phosphatidyl choline or serine for that. The BHMTs are supposed to be associated with gut issues.

    VDR Bsm is Vitamin D receptor. You have one mutation there. You should get your vitamin D levels checked and supplement for that if it's low.

    Then you have menstrual and endometriosis issues. This is due to estrogen dominance. If you run your SNPs through the Detox part of Genetic Genie, you will likely have CYP1B1 mutations which are responsible for slowing down your ability to detox estrogen and are causing these symptoms.

    You can take DIM, IC3 or calcium d-glucarate to reduce estrogen. But since you have CBS mutations, calcium d-glucarate is suggested instead of the DIM or IC3.

    Some high quality fish oil supplementation may also be very helpful. Get pharmaceutical grade or at least molecular distilled to avoid unwanted impurities such as mercury.

    Check out all the links in my signature.
  14. Bluebell

    Bluebell Senior Member

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    Caledonia, this is a great explanation of why people who follow Yasko's protocol say to look at the gut first - succinct and understandable to the newcomer.

    Are there some good websites you would recommend for learning more about estrogen dominance and what to do about it?
    Are you in favor of supplementing with progesterone if estrogen is high?
  15. caledonia

    caledonia

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    Unfortunately, I have those same SNPs, but that's about all I know about it. I got my info from the MTHFRsupport Blog Talk Radio podcast from Jan. 30, 2013 - the one about MTHFR and all the other SNPs. I'm trying to get some notes written up from this; a lot of great info.

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