So you just found out you have a MTHFR gene mutation. What now?
I sincerely wish I had a clear answer for you.
I’m not a doctor or any kind of health practitioner. But the last year has been a real eye-opener for me. What started as an endeavor to optimize my thyroid levels led me to my MTHFR SNPs and into an exploration of the various chronic illnesses that those of us with these mutations can face. I have spent more time on this than anything else during the last 12 months. Writing about the things I learn has really helped me to clarify the issues in my own mind and for those of you who have told me that this site has helped you, I’m sincerely happy to have been able to assist.
But while I think we can learn a lot from each other through experience and sharing information, everyone is different. With genetic testing becoming cheaper and more easily accessible to people, we’re getting more information about our bodies than ever before. With all that information, however, I wonder if the waters are becoming clearer or murkier.
The first question to ask yourself is whether you have symptoms. Having symptoms will indicate that your gene mutations are likely expressing and a variety of things can cause them to express. You may have overlapping symptoms of various illnesses. We all want to get to the root cause but that could be tricky. It took me a year to figure out what was going on with me. Along the way I found out about a lot of things that were contributing to a reduction in optimal health. And I spent a lot of money and trial and error getting there.
If you don’t have symptoms but you discovered the MTHFR mutations and want to be proactive, that’s great. Living a clean lifestyle (organic, reduced exposure to chemicals, improving diet, exercise, etc.) and avoiding synthetic folic acid can go a long way towards keeping you healthy. Not everyone needs to start taking megadoses of methylfolate and messing around with his methylation status. Gluten- and dairy-free diets help a lot of people but they are not an absolute requirement for everyone. A lot depends on your tolerance and the state of your gut. Paleo diets are popular but meat can contain too much methionine, not always great for people with high homocysteine. Be careful before jumping on bandwagons.
It is unfortunate that our toxic environments put an increasing strain on our bodies, causing more people to suffer from chronic illness and nutritional deficiencies. Perhaps if the food, water and air that we consume were in better shape, we wouldn’t need to do anything with regards to supplementation and lifestyle changes. But that is not the case. Be cautious, however, with diving in and messing with supplements that you may or may not need unnecessarily. We do not know what the effects are and there is no reason to panic and start overdoing it with methylfolate. I’m not saying you should ignore your MTHFR gene mutations. But in absence of any obvious health problems, try moderating your environment and lifestyle first. Do appropriate testing. Find someone knowledgeable to talk to.
Unfortunately MTHFR gene mutations can be silent, with a person waking up one day to difficult health problems not knowing how cumulative toxin build-up and nutritional deficiencies contributed to her woes. So it’s understandable to want to be proactive. Those with symptoms will already be motivated to make changes. But what changes do we make?
I started off with no doctor, just the MTHFR test results and a lot of passion to learn and make changes. These days it’s hard to recommend a protocol but I started off with Dr. Ben Lynch’s MTHFR C677T protocol and this video. Eventually I found practitioners and supplements to help me and I found my way to better health. But there is a very important consideration to factor here.
MTHFR is just the tip of the iceberg.
Ideally you’ve done genetic testing beyond just MTHFR. Armed with more information about your other SNPs, you can get a clearer picture of which pathways are blocked and determine a way forward. There’s a caveat here though as well. You can take a guide like Dr. Amy Yasko’s Simplified Road Map to Health and try to do it yourself, but it would be a lot better to find a practitioner who can help you through this and who can run the appropriate tests to figure out what you actually need to work on and how your treatment efforts are progressing. Address one deficiency and you are sure to create another if you don’t know what you are doing.
But who really knows what they are doing in this brave new world of personalized medicine? A lot of doctors and practitioners are learning as they go. Most of them. I don’t mean to sound discouraging but this is new information to everyone. I’ve found patients who know more than most doctors. Dr. Lynch runs training sessions for doctors from around the world. I always recommend his list as a place to start but I would love to hear feedback from readers of this site regarding doctors who have really helped them and who know their stuff. Many patients are being asked to pay a premium for their practitioners’ learning curves. I know there are some very informed practitioners out there who are doing excellent work. I wish we had a place to share those names. Please feel free to leave your recommendations in the comments below or in the doctors section on the forums.
This week I’m starting an online course called “Genomic and Precision Medicine.” I’m so excited about it because I really want to know what the consensus is on a way forward in this area. Most people I speak to are frustrated with their doctors, unfulfilled by the medical system and even angry at how difficult it is to find good care. The best advice I can offer you right now is to be your own advocate and take responsibility for your own health. I do my best to pull the latest news and related topics into this blog and you have many savvy practitioners trying to keep their patients educated via newsletters, online groups and their own blogs or websites. PubMed is an excellent source of information for find out about best practices and the latest research on certain topics. Unfortunately, however, those of us with MTHFR and related health problems often get swept under the rug, with cases too challenging for most doctors to care to solve.
On an encouraging note, I’m somewhat optimistic for the future. People are becoming more and more aware of health issues and increasingly are putting pressure on doctors to keep up. Epigenetic research is increasing. Perhaps time will increase the level of knowledge about how our genetics impacts our health and the wider dissemination of information will bring light and clarity, leading to firm solutions and tested remedies. While the medical establishment is often too firmly entrenched with the drug companies to see straight, alternatives are becoming increasingly more common. The problem with them is that we usually have to go out of pocket. Perhaps the insurance reforms aren’t as bad as we think. Consider getting cheap hospital insurance and spending your money on useful testing, naturopaths and integrative practitioners. Don’t be afraid to dig for your own root causes. Most of all, do not give up hope.
What are your feelings on this issue?
How did you get the test? The only one I know of is 23AndMe. Is there a better one? I doubt my doctor would order one for me. Or, if he did, it would be expensive via Kaiser Permanente.
Andrea Post author
You can order it yourself here, or a doctor can do it through LabCorp and probably other labs as well. 23andMe is the most comprehensive – there are more mutations at play than just MTHFR usually and it can be helpful to run a complete analysis.
My testing showed I am heterozygous for c677T. I have tried various supplements recommended but have found they exacerbate my symptoms. Today I tried eating a fairly large salad of kale and even the folate in this green leafy vegetable caused increases in anxiety and depression. Has anyone else experienced this sensitivity?
Just a quick note to say I appreciate this balanced perspective. I asked to be tested after a bad reaction to nitrous oxide last year and am indeed C677T homozygous. I conceived very easily and had three healthy boys in four years. Apart from getting them tested and continuing with GF and mostly dairy-free living due to allergies (which I guess could be related – who knows?) I’m not sure how much further I want to go down the rabbit hole at this point. We avoid processed foods and I only had folic acid while pregnant. I guess I am conflicted re. supplementation at this point and my focus is more on resolving my nitrous oxide toxicity issues (slowly improving). Anyway, I am impressed by what you’ve been able to do with the knowledge you’ve obtained and wish you every good thing going forward :-).
Andrea Post author
Thank you so much, Elizabeth and good luck with your endeavors!
About Livewello for your Genetic Test results: https://www.facebook.com/notes/livewello/about-livewellos-gene-app/863565933654629
Things you can do with your Raw Data once they arrive from 23andMe Ancestry and others: https://www.facebook.com/notes/livewello/things-you-can-do-with-your-raw-data-once-they-arrive-from-23andme-ancestry-and-/881296868548202
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Hi and thank you for sharing your experiences. I have done the 23andme testing and have been experimented on by many NPs and doctors who know enough to be dangerous. I have spent $1000s of dollars on tests and supplements that I try but cant tolerate because they build up in my system very fast. It is very frustrating. In my journey to find out why I was having an inflammatory reposes, I discovered I had huge fibroids and needed a partial hysterectomy. I already have a huge amount of energy now that it is past me. I am thinking this was the culprit making me sick the past two years and so I am reluctant to start the MTHFR protocols again. Knowing my SNPs, I have so many things working against the norm that I plan TO APPORACH THIS WITH LIFESTYLE CHANGES FOR A GOOD LONG TIME BEFORE I EMBARK AGAIN WITH THE DRS AND NPs. I think in 50 yrs personalized medicine will be an effective and amazing thing. But today, no one knows enough to treat our unique DNA to resolve everything we may be feeling. I for one, do not want to slip down that rabbit hole again. It was a frustrating year with nothing much to show for it. One thing I would like to know, an above poster said they found out they can’t process estrogen. Can you tell me which SNP indicates that? And what treatment helped them? I kept my ovaries so that would be good for me to know. thank you and good luck on your health journey.
It’s great to read these posts since no doctors seem to know anything about it. I have had “high folate” in my bloods for years and years and all doctors told me it’s NOT a concern. I have always wondered why my body was storing so much and now it makes sense. It’s not metabolising! I tested positive for the MTHFR mutation compound homozygous. My sister also has it and has miscarriaged a couple of times and no doctor ever thought to test it. We only got tested because a natropath mentioned it to us. The doctor my sister and I sees, who claims to be an expert – knows a lot less than us. I hope this genetic defect becomes better known.
Great post. Personally (having just found out I have an MTHFR defect!) I think everyone should get tested. It’s so much better to know and deal with it.
I don’t like sharing personal medical info in forums, although I sent you a couple of tweets that did. I went to a nurse practitioner (who is nutritionist n has been to MTHFR seminars, etc.) recommended by a friend who’d had B12 issues resolved. I have had Grave’s disease n other issues. The NP tested me for C677T and A1298C. Got results 1/2014. Agree with everything you said. After initial tests, I got the 23andme.com test done. Valuable additional info.
Pleased with NP, but realize I have much more to do. We’re slowly changing my hormone levels, thyroid meds, B vitamins, and D3. All were either a little or a lot off. Doubt my doctors know anything at all about this.
Andrea Post author
It’s tough – so many things overlap and most doctors are not trained to deal with the more complex problems of chronic illness involving genetics. Good luck to you on your healing journey!
Thanks, Andrea, for the wealth of information that you so kindly share with us. I looked up the “Genomic and Precision Medicine” course, and decided to sign up for it. I just went through the first week’s lectures and took the quiz. This is just the kind of information I’ve been looking for so that I can have an intelligent conversation with my (fortunately for me, forward-thinking) endocrinologist.
Andrea Post author
That’s fantastic, Cynthia! You’re ahead of me, haha – I haven’t had time to do this week’s lessons yet. Coursera is awesome!
I have my raw DNA data and it reflects 59 SNPs on MTHFR. Do you know where I can find a listing of the SNP and other information relating to whether this is an issue? Thanks
Andrea Post author
You could try SNPedia or an app like Livewello – they have a “SNP sandbox” that ties into the latest data from PubMed, Google Scholar, SNPedia and others. 677CT and 1298AC are the two major MTHFR polymorphisms but I am aware that there are many others. Not sure the significance though. Good luck!
Thanks for posting this info! Excited to find others who know what SNP is! (Not that I REALLY “know.”) I have an SNP polymorphism that prevents proper processing of Vitamin D. My dad n daughter are also deficient in D. There were several others that tied in to symptoms. One related to processing estrogens. So knowing more than 677 n 1298 seems to have clarified issues for me, although I haven’t thoroughly researched the extra ones.
Andrea Post author
I haven’t done it either – feel like I have so much on my plate with the things I know about. But the more info you have the better…
Thx, Andrea! I agree it’s better to know as much info as possible. But the more I know, the more I realize how much is unknown. I’m a little concerned I’ll cause a problem while trying to fix something else. I got my 23and me kits today to test my father and older daughter. My younger daughter n I have the same 677 n 1298 polymorphisms. We’ve had health issues probably caused by these, so finding a way to treat them without using prescription meds with side effects seems almost like a miracle. Our nutritionist is making gradual changes. I agree with you that it’s not advisable to treat yourself, because you need testing along the way to ensure you’re getting the results you want.
Hi. Can you tell me which SNPs cause your estrogen and Vit D processing to be off? I have all of my raw data results and would love to see if I have those as well. I am also compound heterozygous for c677T and A1298c. and the women in my family are all low in D. I just had a partial hysterectomy and kept my ovaries so it would be helpful to know if I need to watch my estrogen now. Thank you for sharing.
Paige Adams, FNP, B-C
Another great article, Andrea! THANK YOU for continuing to get this important information out there!
Andrea Post author
Thanks as always for your support, Paige! =)