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?