MTHFR diagnosis 9 years ago...need more answers

I had a DVT at 21 on BC. Then several more during and after prenancy at 30.  Was diagnosed with MTHFR during pregnancy and told to take high doses of B6, B12 and Folic Acid and avoid ALL hormones.  Now, 9 year later, I want more answers and want to see a specialist but don't know where to start.  I want to be re-tested and have more clarification.  My health has been destroyed and I need to fit the pieces of the puzzle together.  I believe the MTHFR is perhaps a major cornerstone in my health issues.

Anyone have some insight or know where to find a specialist in Phoenix AZ?

[Dragon1973]

Hello Jrgreeves,

I was first wondering since you have been diagnosed with MTHFR, have you a genetics doctor or counsellor?  If not, you definitely need to seek out a Genetics Specialist, because MTHFR is a rare genetic disorder and is responsible for losses as well as higher risks for Genetic Abnormalities such as Down syndrome and Spina Bifida and more importantly miscarriage and stillbirths.

It certainly can be responsible for health issues, namely Depression, Anxiety and Blood Clots - as you mentioned you have had DVT's.

I never did much investigating on Methylenetetrahydrofolate reductase (MTHFR) but as I read more about it, I am quite concerned that I too may have this.  I have one son (my first pregnancy) who was prenatally diagnosed with Down syndrome and my 2nd pregnancy I just lost due to a low fetal heartbeat which stopped suddenly at 6w1d along with the growth.  I am told that this was likely due to a chromosomal abnormality also, but unrelated to me.  This occurred on 7th June 2010 at 9w3d and had to have a D&C since I had no miscarriage symptoms like bleeding and cramping and I had an abundant amount of hCG along with regular nausea.

I will be seeing my Genetics Doctor, who followed my prenatal testing for my first son.  I was never tested during this time because it was determine that since our son did not have a Translocation type of Down syndrome, they realized the Syndrome did not come from either myself or my husband.  However, no other testing was done for me.  

Interestingly enough, I have suffered in the past with several health issues including the ones I have mentioned to you that are related to MTHFR.

I am sure you have probably researched to some degree on MTHFR, but here is a good site that I came across:  http://www.pregnancy-info.net/mthfr.html
Here is a site directly related to MTHFR and Thrombosis:  http://circ.ahajournals.org/cgi/content/full/111/19/e289  (I hope you can access the full article.)
More importantly here are some sites from MedHelp which may help also:  http://www.medhelp.org/tags/show/96223/MTHFR-treatment

Some research indicates mild conditions can be controlled with diet and high levels of Folic acid - 4mg.  I would definitely ask your doctor or Geneticist if the recommendations you have been given are correct.
I am going to pass on your post to a friend here on MH who I believe can possibly help you also.  I will send you a PM regarding who she is.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[jrgreeves]

Thank you , Sandi.
I am not under treatment from a doctor for it.  Curiously enough, my doctor always used to call it that funky gene thing until she had 2 miscarriages and her husband, also a doc, had her tested and it turned out she has the same disorder.  However, she does not address it and the hemotologist that originally diagnosed me and treated us both thru our pregnacies will not work with us (only wants to do cancer patients).  I have seen a reproductive endo and he only cared about the PCOS that oddly enough both my doc and I have as well....is it another result of the MTHFR?

I am not interested in anything related to pregnancy at this point as I am done....just more interested in MTHFR's impact on homonal imbalances, weight gain, and the possible connection to PCOS.

I really need to find a genetisist.

[Dragon1973]

This is very interesting for me.  Now that I am looking into the MTHFR and believing I need to be tested for it, would you believe I have undiagnosed PCOS and when I research both these disorders, there is tons of relevant information from other women who similarly have both PCOS and MTHFR!

I am intrigued!  I will be seeing both my doctor and Endocrinologist in the next two weeks, and I will additionally be putting in a call to my Geneticist.  I will dig to the bottom of this and find out whether PCOS is a related or result of the MTHFR gene.  In my opinion, I believe they are very related.  I have suffered with Ovarian cysts all my life and I had other PCOS symptoms such as excessive hair and being overweight (severely) and excessive insulin production.  I have now gotten my weight somewhat under control, (I was 197 lbs at 5'4" and now I am 144 lbs).  I know that my older endocrinologist never really was interested in my diagnosis of PCOS because at that time I was not interested in conceiving and quite frankly he should have been retired years ago as he was 84 years old.  Thankfully I am seeing a wonderful younger female doctor now for my endocrine issues.
I would also hazard to guess that it is responsible (the MTHFR) for my own hormonal imbalances that I suffered with all throughout my life.  Interestingly enough, I also have a pituitary tumour which secretes prolactin.  I am unaware of whether this too may be related... but at this point, I think anything is possible.

I will continue to research and I will definitely post or message you with whatever I learn.  Also after my doctors appointments, I will pass on any new information that I learn.
I hope that will help you!

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[k10road]

I was gonna hop on in here, but Sandi covered all bases!  If you have any questions at all regarding your MTHFR, please feel free to PM me.  I have been recently diagnosed, but since it caused so much trouble for me, I have done very extensive research on it.  I would love to help you in any way I can!

[Dragon1973]

Just thought I would post today and inform those who I had told I was having this testing done.  I found out today that I indeed do have an MTHFR variant.  The genetics anaysis came back as: MTHFR 677C>T
Allele 1 Abnormal  -   Allele 2 Normal

So, they have recommended that I be further tested for the Factor V Leiden (1691G>A) variant or the prothrombin 20210G>A variant.

I will have to do some research on these next two variants to see if I should be tested.  But all in all, I knew personally that there was a very high possibility that I had this genetic defect.

So, I hope to all of you out there, who are wondering why you may have miscarriages, or other related issues, you will look into the genetics testing.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[enzymelover]

Hi! I just read something about MTHFR yesterday, and today I saw this thread, so I thought i would throw this in, even though you probably already know this.

Doctors recommend that you take the reduced form of folic acid, known as 5-MTHF, or 5-methyl-tetra-hydra-folate, rather than just a folic acid supplement, if you have MTHFR deficiency, for better absorption.

Stay well,
Enzy