Why Doctors Don't Know Everything [Frustrations]

Some doctors and specialists are so terribly stupid, it isn't even funny. I'd really love to know where these people get their medical degrees, or where they go to college, because they really have no idea.

I get frustrated because Doctors pass off these mutations as if their nothing to worry about. 

My Geneticist that I saw said this to me (keep in mind, this is the same geneticist who passed off my clotting mutations as being nothing major to worry about)

"MTHFR is not known to be associated with any increased risk of pregnancy complications or Down syndrome. MTHFR is very common in the general population and there have been many research studies that thought they showed an association between different conditions and MTHFR that have since been proven incorrect. Having two MTHFR mutations may increase the risk for cardiovascular events when someone is an adult but only if that person has elevated homocysteine levels. Your husband should have his homocysteine levels screened periodically by his PCP and treated if they are elevated. You are not at increased risk for elevated homocysteine based on only one mutation so you do not need to be screened for elevated homocysteine any more than a person in the general population and you do not need any treatment for this. As far as the treatment for Lovenox I would talk more with your OB/GYN for the reason for treatment. I imagine that it is due to the history of multiple miscarriages and your factor V leiden mutation not the MTHFR, Any women considering a pregnancy should be on folic acid at least three months prior to conception to reduce the risk of anencephaly and spina bifida. I would also talk to your OB/GYN about her recommendations to make sure that you are on the right dose. If you would like additional information I can mail you some reading material regarding the cardiovascular risks or we would be happy to see you for another genetic counseling appointment."

Uhm...

Last I checked, MTHFR and any methylation mutation is dangerous for the body. MTHFR mutations affect pregnancy, just as much as any other mutation. And Really? Folic Acid for MTHFR? Hello, if I can't absorb Folic Acid, than how the heck am I going to take it, when it can not be absorbed and methylized? Also, last time I checked, after hours of research, MTHFR can cause serious complications such as spinal bifida, neural tube defects, ect. due to not being able to absorb b vitamins properly right? What is this doctor on? lol.

Studies have also shown the MTHFR mutations cause low sperm count and chromosomal damage to the sperm. Which is just lovely to me, because my boyfriend (not husband as everyone keeps calling him)just went to get a Semen Analysis...

I did a Yasko panel and also saw that I had these: Heterozygous for 2/3 COMT Mutations. The SNP's are: rs4680 and rs4633. Heterozygous for 2/2 VDR Mutations. The SNP's are rs1544410 and rs731236, Heterozygous for MAOA rs6323, Heterozygous MTHFR 1/3 The SNP is rs1801131, Heterozygous MTR Mutation rs1805087, Homozygous, MTRR Mutation 1/5, SNP is rs1801394, Homozygous, MTRR-11 Mutation, 1/1, SNP is rs1802059, Heterozygous for 3/3 BHMT Mutations, BHMT-02, BHMT-04, BHMT-08. SNP's for these are: rs567754, rs617219 and rs651852 and Heterozygous for 3/3 AHCY Mutations, AHCY-01, AHCY-02, and AHCY-19. SNP's are: rs819147, rs819134, and rs819171 as well as Heterozygous for 2/3 CBS Mutations, rs234706 and rs1801181.

So clearly, my body has some issues with methylation right? No one seems to know what effects this has on my body. Is simply taking Metanx enough? or do I need something else? If I don't understand MTHFR how the heck can I explain it to him? If doctors pass it off as it being nothing, he simply won't take any

supplement for it...

Am I exaggerating the effects of non-treatment of MTHFR? Why do people treat it like its nothing?

Another issue that no one seems to be taking seriously is B12 deficiencies. I have found after much research that several studies have shown that B12 deficiencies can cause miscarraiges, AND, Surprise Surprise, that study also showed that B12 deficiency can cause sperm to be low, or damaged. See here: http://www.b12patch.com/blog/tag/miscarriage-and-vitamin-b12-deficiency/

Doctors are so dumb sometimes. I have yet to find someone, other than my PCP, whom I have not talked to in a while, to discuss these details with who fully understands them. We shall see what January carries, perhaps an RE who has background in genetics could answer some of these questions.