April 6, 2013

MTHFR in My Life

Re-published from here: http://www.stopthethyroidmadness.com/mthfr/marys-story/

I first heard of MTHFR, or
methylenetetrahydrofolate reductase, enzyme deficiency on the STTM patient to patient groups.  My first reaction was to blow it off, which I did.  I did not want another health issue to deal with in addition to my juvenile diabetes, Hashi's, adrenal fatigue, very low iron, Poly-Cystic Ovarian Syndrome and endometriosis with low progesterone, estrogen and testosterone.  I finally felt like I could see the light at the end of the tunnel, so to speak, with regard to my hypothyroidism and adrenal fatigue!  I was treating my issues well and finally getting a taste of feeling good, and I just wasn't ready to deal with some other health issue! 

But as time went on and I learned more about it from other patients, I realized that this gene mutation just could be the thing that connected the dots.  And what if treating it would not be another health issue to add to my list, but rather would speed along my healing in the long-run, if it was part of the core underneath all these layers?

In the back of my mind, I also wondered if testing and treating MTHFR, which is connected with miscarriage in some women, could help me to conceive again and carry to term?  After I miscarried, my health hit rock-bottom and that was the impetus behind my finding STTM and seeking proper treatment for my thyroid and adrenal issues. 

Still, I put off testing.  

Then I had labs drawn that revealed I had high B12 levels, despite only getting a small amount of B12 in my B complex.  I had multiple people suggest that it could be due to having MTHFR, due to the fact that the test reveals blood levels of B12, not the levels that are getting into the cells.  I knew then that I should get tested for MTHFR.

Since I have a very supportive health care provider, I chose to start with getting the Lab Corp blood test which my insurance would cover entirely.  (Many patients choose to test through 23andme.com, which is excellent.) 

But the lab sheet results were confusing, suggesting that it was not important if a person has the A1298C copy of the mutation, if they do not have the C677T copy, which is the one associated with having elevated homocysteine levels while the A1298C copy is not (when the C677T copy is not present).  The doctor at the LabCorp laboratory confirmed this, as well. 

So I did what has been the number one best help to me: I sought the advice of other patients.  After talking with other patients on the MTHFR support groups, I felt confident that this is not the case - that having any MTHFR mutation is significant - and I decided to move forward with my treatment. 


I started with taking methylated B12 and felt an improvement in my energy levels quickly.  I am taking my treatment plan very slowly.  Later, I plan to add methyl-folate.  If I tolerate that with no ill effects, I will then try a methylated B complex.  Again, all of this will be done very slowly so as to track symptoms and reactions, and generally allow my body time to respond.  

At the same time that I had my MTHFR lab drawn, I had my copper, ceruloplasmin and zinc levels checked.  Those revealed that my free copper levels were double what they should be and my zinc was low. 

So shortly after starting the methyl-B12, I started trying to balance my high copper and low zinc by taking zinc picolinate.  I chose Solgar brand which is 22 mg per tablet.   

Unfortunately, the detox process resulted in what seemed like a return of my hypothyroid and adrenal fatigue symptoms - some of which I had not felt in ages!  I was fatigued especially in the afternoon, had cold hands and feet, no motivation, was easily stressed, irritable, emotional, emotionally sensitive, weepy, and had sore breasts, acne, and water retention in my ankles.  Whoah!  This was a lot to hit me (again) in a relatively short period of time. 

I stopped taking my zinc supplement to see if that was the culprit. Within a day and a half, I felt like myself again.  It was surprising! 

I plan to resume my zinc picolinate supplementation, but I will opt for a lower dose - probably a quarter of the 22 mg tablets to start - and I will increase as time goes on, but s-l-o-w-l-y.  


It's worth mentioning that m
olybdenum can help detox copper, and P-5-P (the active form of B6) and magnesium can help reduce symptoms.  

I am confident that as time goes on, treating my MTHFR will help my other health issues to diminish.  I am also very thankful to have learned that I have this gene mutation, since my children are likely to have it as well.