I have been promising to write about MTHFR for a loooong time now. I know some in my audience have been waiting for months. I'm going to be really, really honest here . . . I have struggled with how to approach this topic more than any other topic I've ever tackled on this blog. I was less afraid to write about infertility, despite it being a very private struggle. If you could only see how many drafts I've started for this topic or how many hours of research were wasted, because I was paralyzed to write after reading.
I sat down again tonight to write and found myself in the same vicious cycle. Then my husband said something perfect ('cause he's perfect!), "You are not a research blogger. You don't need to present a flawless scientific write up. You're audience wants to know the human side. Write about MTHFR from that perspective." He was 100% right, so here we go . . .
So, we need to start with the basics. MTHFR stands for "methylenetetrahydrofolate reductase." Our MTHFR gene produces the MTHFR enzyme. The enzyme works with folate (also known as B9 or folic acid) to convert the amino acid homocysteine into another amino acid that is used for multiple important processes in our bodies. Basically, if this process is working correctly, your liver works better at eliminating toxins, inflammation is better controlled in your body, your immune system works better, you produce more of the neurotransmitters your brain needs to function well, and your cardiovascular system is healthier. If you have a defect (called heterozygous) in this gene, you are at higher risk for many conditions, like coronary heart disease, venous thrombosis, dementia, fatty liver disease, anemia, increased inflammation, depression, a variety of cancers, stroke, miscarriages, migraines, and chemical sensitivities. If you have a double defect (called homozygous) you are at an even higher risk for these conditions. There are different ways the gene can be defective, two of the most common mutations are C677T (which is very serious) and A1298C (which is less serious). Autoimmune disorders and MTHFR genetic mutations are pretty clearly linked.
I am homozygous C677T. Yep, you got it. I have two copies of the worst mutation. This is where we get to the human side of the story . . . it's scary. The science on how these genetic mutations effect us and how to treat them is BRAND NEW. Many doctors know nothing about this topic. The information I read about MTHFR changes literally every day. There does seem to be more and better information all the time, but how can I interpret all that data, when my doctors don't even know what to do with it? I can't write about how to approach treating this issue for my readers, because the experts are still learning how to do it. What's more, it is a very delicate process with potentially serious side effects.
This genetic issue is probably at the root of my infertility. It is probably why having multiple vaccines before I moved to Africa, lead to a complete autoimmune collapse for me. It was playing a role when I was in the depths of daily panic attacks. Just like all of you, I find myself overwhelmed with how to approach it and where to turn for accurate help.
And all of that is okay . . . here's why: I can't control everything. Ultimately, my journey with MTHFR has been primarily about accepting the things I cannot change. You know the serenity prayer, the one they use in Alcoholics Anonymous? Sometimes I think that is a good prayer for those of us on the healing path. I have come a long, long way and I can do my best to go further every day, but it is okay if there are parts of this journey that involve traveling at a pace I didn't set for myself.
You see, choosing to accept that this is scary, that there is simply too much information for me to realistically synthesize at this time, that the experts are still trying to become expert on this topic, that this genetic defect is probably at the root of many health problems for me, and may very well cause more serious ones . . . accepting all that has given me alot of energy for courage. "Having the courage to change the things I can" is the other important line of that AA prayer. If I am not bogged down about the things I can't handle, I have alot more courage to tackle the things I CAN handle.
This is what I am doing with MTHFR:
1) I spend a small (small is the key there) amount of time every month learning the latest info on it and listening to the leading doctors trying to treat it. At the very least, this info lets me be a good advocate for myself when it comes to discussing this topic with my doctors. Being a strong advocate for my own health is a VERY high priority for me.
2) I have begun a basic treatment method. I chose one that I am able to understand and that was recommended by my doctor, based on her understanding. This involves taking activated B vitamins.
3) I continue to focus on a very clean diet and a lifestyle that avoids, as much as possible, unnecessary exposure to things my body struggles to process (too much stress, too many chemicals in my environment, etc) due to my MTHFR defect.
What do you think readers? Do you have the MTHFR defect? MTHFR or not, is there a portion of your health journey where applying the principles of serenity has resulted in greater empowerment for you?
I had to stop researching because it scared me too much...they seem to be linking it to everything....I told my husband that I should be dead several times over based on what I was reading. :/ On the other hand, it seems to be linked to "midline birth defects", of which I had two, and cleft lip, which my younger daughter was born with, so that is kind of interesting.
ReplyDeleteHow do you find a doctor that has even heard of it? My rheumatologist researched it enough to agree I shouldn't be taking folic acid, but rather methyl-folate, but that was it from her.
Hi Jennifer!! Thanks for reading! Take a look at MTHFR.net or try MTHFRsupport.com, you can find resources to locate doctors that understand.
DeleteYes, I am compound heterozygous (meaning I have one copy of the c677t and one of hte a1298c). I do feel like it's a piece of the missing puzzle for me. I am strongly considering purchasing a sauna for my home to help with detoxing. I have felt off for the last week -- not sure if I'm over-methylated or under-methylated -- it's all a learning process!! And like you, I do my own research and then take to my doctor and clinical nutritionist (who I am now working for). Good luck!!
ReplyDeleteI LOVE an infrared sauna...that actually took my healing up a notch. Good luck!
DeleteGetting the results as homozygous C677T also was a lightbulb moment for me - suddenly it made sense why most of my life I've felt sick and even one day of indulging on 'normal people foods' makes me feel toxic. I feel more empowered than anything else - all the crazy diets, pills and treatments I've tried and still use make more sense... I no longer feel self indulgent or frivolous as there is finally a legitimate reason for feeling the way I do, and have done for goodness knows how many years! After feeling like a hypochrondiac for most of my life I finally have a solid reason as to why sticking to my health path is important.
ReplyDeleteI've switched my focus back to consistent clean eating, not being bullied into treats or big nights out that would leave me a mess for a week after... And have finally completely embraced the weirdo things I do to detox my body (clay and enemas anybody? ;-) ) Of course I wish this was different and I am scared about the potential risks when I do start trying for babies... But after years of not knowing I'm kinda of relieved. I'm certain that this knowledge will prevent me from the autoimmune path I'm certain I was veering towards in a steady fashion! So I'm doing my best to. Be positive and greatful for finding out when I did.
I totally agree Kris Ti!! Great perspective.
DeleteThank you for posting this! I am compound heterozygous and have been attempting not to drown in the information that is out there for how to best care for myself. Just when I thought I had a handle on my MTHFR stuff, I did 23and me, and now feel way more overwhelmed with the nuances and intricacies of all these other mutations. I try to slow myself down, and just listen to my body. It will give me a lot of good information about lifestyle changes and what supplements work and don't work for my body. Sending you lots of virtual support =)
ReplyDeleteThanks for the support Alyssa17!!
DeleteThank you for a clear and simple explanation of a very complex topic. I have considered being tested for this gene but have put it off. I know things have changed at 23andme because of the federal government, so I'm not sure they are still able to give helpful information. I do understand that you need someone to help interpret the results, whatever they are. I'm reluctant only because I don't like to think of a large corporation having access to my genetic information. Has anyone found it to be helpful?
ReplyDeleteAnonymous, you are so welcome!! Most people I know that have done the 23 & Me test are really glad they did it.
DeleteHow do you even find out something like this? A blood test? I've struggled with depression, anxiety, migraines, miscarriage, and then autoimmune stuff like psoriasis and psoriatic arthritis. Makes me wonder!
ReplyDeleteCorrie, I was tested back in 2005 by my ob/gyn as part of a workup for recurrent miscarriages. At the time, I could find nothing on it online, and the only advice my doc gave me was to take baby aspirin and mega-doses of folic acid. I only thought of it as a factor in my miscarriages/infertility and didn't realize till recently that it had other health effects. I'd say ask a doctor to do a blood test looking specifically at MTHFR...I'm a little leery of 23andme, like Anonymous above, because that's an awful lot of information to have in the hands of someone else--and who knows how genetic information will be used in the future, as scientists become more sure about what genes contribute to which diseases? On the other hand, my brother is a huge proponent of 23and me, as it showed him that his youngest was at a very high risk for celiac, so they are transitioning her to a gluten-free diet at an early age, before gluten can cause too much damage.
DeleteWhere did you get your test done? I have several people that I want to get tested, including myself...
ReplyDeleteOh, I see above, never mind! :)
DeleteAs far as treating MTHFR mutations, the B vitamins are crucial of course. These being L-Methylfolate and Methylcobalamin for the B9 and B12. However what is less understood is the profound benefits of supplementing Glutathione levels as well. Because this methylation process is vital for the production of Glutathione, nearly everyone with an MTHFR defect has a Glutathione deficiency. This causes a myriad of problems, because it is our body's "master antioxidant."
ReplyDeleteBy supplementing your Glutathione levels with either Acetyl Glutathione or Liposomal, you can help fortify your immune function and improve cellular health. Which is extremely important for those with this MTHFR defect. This combined with the B vitamins can have a profound effect on overall health and help balance this methylation cycle.
Excellent article!