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Tests to request?

Discussion in 'Genetic Testing and SNPs' started by dulcinea14, May 14, 2015.

  1. dulcinea14


    Hello all,

    I have been going through IVF for the last year and recently found out I was compound heterozygous MTHFR. So, I called my RE (reproductive endocrinologist) and she said that it's only a concern if my homocysteine levels are high and that I should just take 1mg "folic acid" for the rest of my life. When I told her folic acid was part of the problem, that it's methylfolate that should be taken, she said "Oh, whatever type they tell you." She didn't even tell me to come in to get tested for homocysteine, just told me to "go get tested."

    I realized then and there that I wasn't going to get proactive care from this RE. I'm going to see a new primary Monday to have some tests run related to my methylation SNPs, specifically homocysteine, but what other tests should I have run? I had CBC, CMP, and routine urinalysis run recently already.

    Based on some research, beyond homocysteine, I should probably ask for folate, B12, MMA, Urinary Amino Acids. Any others?

    A side note and desire for advice is that I have been feeling progressively worse with each IVF round (physical and mental). I've had CFS and Fibro symptoms for many years but every time I tried to talk to a doctor about them, I was treated dismissively and it just made me avoid doctors period. I have suffered from depression and anxiety my whole life, but had gotten it under control before IVF. I was even great after my first cycle and into my 2nd cycle. It may be coincidence, but it seems like my anxiety and depression problems started up when I started taking supplements to improve egg quality: CoQ10 ubiquinol, melatonin, DHEA, NAC, Inositol, ALA. A couple of those are methyldonors and I was also taking 1mg methylfolate, plus a B-Complex with Mfolate and MB12. Probably was overmethylating. I would get depressed and not take my supplements for a few days too. I'm not sure if that was just drawing out the problem or was a good thing. (My SNPs are listed below. I've read a bit about the problems COMT++ can cause with methyl donors and dopamine, MAO-A and serotonin, and how VTaq and COMT are related, but the others I've barely scratched the surface in understanding.)

    Today I decided to strip back my supplements to just the "basics" (multi, Omega3, probiotics, calcium/magnesium, Vit D for my known deficiency). I have some hydroxoB12 and folinic acid, but not sure if I should take them. Any reason not to?

    I have an appointment with a specialist who supposedly is skilled with methylation issues, but it's not her primary area, so I'm not 100% sure. Also, my appointment is not until June10th, so I have a ways to go. In the mean time, I'm hoping getting some tests run will give me some clarity (and walking into the specialists office with the test results hopefully will speed up my diagnosis).

    MY SNPs (from 23andMe run thru GeneticGenie)

    Homozygous (++):
    • COMT V158M
    • COMT H62H
    • MAO-A R297R
    • MTRR A66G
    • BHMT-08
    Heterozygous (+-) :
    • MTHFR C677T
    • MTHFR A1298C
    • VDR Bsm
    • VDR Taq
    • ACAT1-02
    • MTR A2756G
    • MTRR A664A
    • BHMT-02
    • BHMT-04
    • CBS C699T
    • CBS A360A
    • SHMT1 C1420T
    Last edited: May 14, 2015
  2. Valentijn

    Valentijn Senior Member

    @dulcinea14 - Testing all of that would be more expensive than just taking the folate, especially if just taking it while pregnant and while trying to pregnant. Alternatively, research has found that eating a fair amount of vegetables also removes the increased risk of birth defects due to those mutations.
  3. dulcinea14


    So maybe just the homocysteine test is needed. If I have high homocysteine, I'll need to be put on blood thinners.

    They also may try to prescribe me Metanx too, but if I'm sensitive to methyl donors (and it seems I am SNP-wise and experience wise), I may need to go another route with folate. I've already started increasing my intake of foods high in folate and I switched my prenatals from one with folic acid to one with folate from food sources (Garden of Life) although I thought "folate" was supposedly not shelf stable, so I don't know if its effective (lots of conflicting stuff out there).

    After the nightmare of mood swings and anxiety I went through recently after unknowingly increasing my methyl donor supplements (didn't even know what a methyl donor was at the time), I'm hesitant to introduce methylfolate back in, but maybe I'll just try to gradually increase it.

    I get the low and slow method, but why not just take folinic acid? Is it less effective? I've had some trouble understanding whether folinic acid is effective or not (or is it just another "we really don't know yet" things?)

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