newly diagnosed , what to do now?

[angelalmcParticipant November 6, 2013 at 6:48 pm Post count: 4]

#2765

i was diagnosed with the mtfhr gene mutation after having issues from taking birth control.

now that i have been diagnosed, i am reading more and more about the mutations and everywhere i read says i should be getting “levels” checked periodically. what testing am i supposed to have done? one lists homosystein levels… do i need to see a special doctor to get these tests or can my primary do these for me?

[Sterling Hill ErdeiKeymaster November 7, 2013 at 7:21 am Post count: 123]

#2772

To get a practitioner to actually know what they are doing, we have a list started under find a practitioner.

If not you can go to your doctor and see if he will test for homocysteine and tell you that number and not just tell you the words it is in range because most are clueless.

And if you are eating foods fortified with folic acid, you might want to consider a whole serum folic acid panel. If you have been eating your cheerios, bread, flour, rice, etc.. loaded with synthetic folic acid and your folic acid level come back crazy high you will know that MTHFR is expressing because we cannot convert unmetabolized folic acid into the active bio available form of folate. And unmetabolized folic acid is one of the leading causes of renal failure and colon cancer. Some countries have realized this and have stopped fortification. Because many have MTHFR expression.

Also if your T Cells are low MTHFR could be expressing since it causes poor t cell regulation.

Also a whole serum FOLATE not folic. And if the folate test comes back low you will know MTHFR is expressing.

Also a doctor can put your red blood cells under a microscope and if your rbc’s are misshapen with hooks on them this is also a sign of poor diet and MTHFR.

Sterling

[hardasnails1973Participant November 7, 2013 at 4:38 pm Post count: 33]

#2782

Sterling has made some great points. Just because the homocysteine levels are fine you need to look at the entire history and underlying pathology of the problem. Just because one has the mutation does not mean it is being expressed. With the help of a skilled practitioner like my self, by looking at the history we will be able to find out this information. Proper testing I have Dr run are a full panel of labs. For looking for expression of genes. One can look at RBC molybdenum, 24 hour sulfate, amino acid urinary profile to get a better clinical picture…Shawn

[DrTimJParticipant November 7, 2013 at 6:33 pm Post count: 22]

#2787

I would suggest beginning with working on gut health and then addressing your SNPs. Looking at testing for the expression of SNPs can be helpful but also very expensive. If you’re on planet earth today, you’re likely to have your MTHFR expressing. Other SNPs may involve taking trace amounts of nutrients that are safely found in most multi-vitamins. If you wanted to take supra physiological levels, you would want to test other biomarkers.

Dr. Tim

[Cynthia SmithParticipant November 10, 2013 at 5:09 am Post count: 206]

#2812

Hi Angelalmc, You dropped a clue in your post. Issues with BCPs indicate a COMT SNP, and poor estrogen clearing. COMT SNPs affect many things besides poor estrogen clearing. Its one of those SNPs that affect personality, life choices (impulsiveness; front brain lobe effects) and other traits. COMT raises the level of excitatory neurotransmitters; a double edged sword….smarter than the average bear, but some issues with mood. It would be best if you did the 23andMe test, and then run raw data from 23andMe raw data through Sterling’s APP on MTHFRsupport to see if you have COMT and some CYP450 Phase I liver enzymes. If you do have COMT, then knowledge is power, and you can adjust your diet and take supps to clear estrogens. Life gets easier if you know how to adjust the biochemical pathways (COMT is one) that dictate neurotransmitter levels. Cynthia

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