I'm still absorbing a ton of data, finding things that make me go 'hmmmm...' and other things that make me go 'geeze, really, is that something I really have to do?' along with a few 'but I don't wanna do that' things.
While there are literally HUNDREDS of studies about MTHFR, not a whole lot of them focus on whether or not certain treatments, supplements, lifestyle changes and/or diet changes work for patients with MTHFR. Even the experts in treating MTHFR indicate that treatment has to be highly individualized. One theory as to why it has to be highly customized falls along with another theory as to why this genetic condition impacts some patients more than other patients... that there might be OTHER genetic components that reduce the methylatioin process - which compounds the condition and complicates the treatment needed.
What do the studies I've read and experts agree on?
They agree that if MTHFR A1298C homozygous patients have reduced methylation processing capabilities compared to people without that genetic mutation. What does this mean? It means that there is an impairment in the process that breaks down and processes nutrients from your diet. It also means that there is an impairment in the ability to process and eliminate various toxins. The experts do not agree to the severity of this impairment. Some experts claim that patients with these genetic markers get only 7-10% of the nutritional value processed that they take in. Other experts say that it's much better than that and estimate it at 40-60%.
Let's go with the BEST case scenario. 60%
Let's pretend like I have a twin - who doesn't have these genetic markers - but who eats what I eat, sleeps when I sleep, gets the same toxic exposures that I get. Side by side. Let's use numbers... and let's pretend that the 'sum nutritional value' of what we both eat equals 500 (an average diet that includes some junk food, some frozen dinners, some good stuff... middle of the road diet). My twin has good methylation - so her net intake is still 500 - what she eats gets processed and appropriately nourishes her. Me, I'd get 60% - so only 300 nutritional value goes into my body. So, in my mind... even if some of the experts question the role of MTHFR in various health issues - if my twin and I were standing side by side. Common sense tells me that I would be more tired and fatigued than my twin. But, experts will still want to point out that there are folks with my genetic markers who don't suffer any illness nor ill symptoms. But, what if... what if they have already made lifestyle and/or diet decisions different than I. What if their initial 'arbitrary nutritional value' of their diet is 1000. Even if they only absorb 60% of that nutrition - they'd be absorbing 600 - which is better than people with an average diet. I just think that it's more complicated than MTHFR is not involved at all with health issues OR it's everything to do with health issues. I think there's just more to it.
Especially if you also look at the other side of the coin. My body will have a decreased ability to handle toxins. Examples given of people who have issues with this include people who have lots of food intolerances (um, yep - that's me... lactose intolerant and I have a reaction if I get too much citric acid).... people who have a lot of allergies.... (um, yep, me again - it's easier (and faster) to list the pain medications I am not allergic to than list my allergies, I'm allergic to mosquito bites for goodness sake, half a dozen other medications that aren't pain meds, as well as wool... for goodness sake, I'm a knitter and I'm allergic to the most-common material used for knititng... sigh - as well as allergic to most perfumes, lotions, detergents, etc). Another concern is a sensitivity to taste - I can literally taste metal in most water - even though everyone else in my family thinks the water tastes just fine. My theory is that my taste is reflecting things that I don't tolerate as well... though it's just a theory. I'm allergic to a ton of different types of metal.... including the mercury found in contrast as well as what used to be in saline solution years ago for contacts. Could that be because unlike folks without the genetic condition - I can't eliminate even low level exposure to it - like most people? I know there's a lot of controversy around mercury used in amalgam fillings. And I know that part of the reason I decided to get tested for MTHFR is because I'm concerned about my fillings... but what I'd really like to know is if the people who swear that removing the mercury fillings helped them recover from chronic illness that they blame on the fillings have the MTHFR genetics?
Again... if on a daily regular basis we are exposed to a .10 level of toxins - whereas someone who is working and/or living in a heavily toxic area is exposed to 100 level of toxins. They are likely to get SERIOUSLY ill quickly with things like cancer, luekemia, etc. A .10 probably won't cause serious, severe illness in most people, ever. But if a regular person can eliminate 100% of the .10? But I can only eliminate 60% of it? It just makes perfect sense to me that all other things being equal - the person more likely to have issues is the one who is not getting as many nutrients and is unable to eliminate toxins as well. And as we age, people's ability to process nutrients and eliminate toxins decreases... so I could see people with this condition not experiencing as many symptoms at a young age, but getting worse as they get older. I also think that if they might have been exposed to some toxins at various points in their life, but the toxin not getting eliminated at that time - that they could have worse symptoms over time as the every day little toxins add up and get built upon that early exposure. For example, I had broken a mercury thermometer as a child and played with the mercury for about 20 minutes before my mom found me. That might not have been enough to cause issues - but add the mercury in fish that I eat, add mercury from the multiple contrast IV's for ct scans I've had, add the exposure to mercury from when I first wore contacts, a mouth full of fillings, and a reduced ability to minimize the impacts of the mercury? I could see that with time this might all add up to an issue that someone else might not experience.
With all this said and done... I'm looking at a really LONG list of suggestions for 'treatment protocols' for MTHFR. I know my regular physician is convinced that there is no cause for concern based on my genetics and that there's little to no reason to change anything. One of the really good warnings on one of the web sites is... to avoid extreme thinking.
A) Don't let anyone tell you that MTHFR causes NO ISSUES.
I agree with this statement - because it is only common sense to me that reduced methylation (proven in studies even by the experts) which means a reduced nutritional value and decreased ability to eliminate toxins could put you at risk for illness. Not makes you automatically ill - but would put you at risk.
B) Don't assume every issue is MTHFR.
I'm already guilty of this even before I had a label. I've had a 'chronic undiagnosed illness' for six years. Four years ago I started having recurrent pain in my upper back between my shoulders. I doubt I even mentioned it to my regular doctor. I was already seeing a chiropractor for treatment. He'd adjust my back, I'd feel better for a little while... it'd start bothering me again and I'd have the chiropractor adjust me again. Three months ago I had my gall bladder out. I haven't experienced upper back pain since. Not once. Now, upper back pain isn't a typical symptom of gall bladder issues, but it is one of them. If I hadn't assumed that pain was related to my undiagnosed illness and had brought it up to the doctor he might have gotten around to doing an ultrasound and finding the gall bladder issue before I needed urgent surgery.
I see my doctor at the end of December. I will try to get him to agree that A and B above are both not appropriate and ask for his help with keeping me from falling into the B trap and I will help keep him from assuming A is true by doing my due diligence and research.
If he can't agree with throwing A out - then I'll end up switching to a new doctor who is open to the fact that A isn't going to work for me.
There is a long list of supplements that are recommended. But, (and thankfully) it is recommended that they get added slowing and incrementally without too many changes at once. I plan on adding one new supplement a week OR increasing the dose of a single supplement during that week (but not both). I will monitor my symptoms extremely carefully with an eye to identify if some supplements become too much for me or maybe aren't good for me.
There's also a long list of lifestyle and diet changes. The vast majority of these changes do not have a lot of scientific studies that MTHFR + this change = improvement. It's more anecdotal than that. But some of them really are the common sense recommendations that everyone knows it's good for you, but it's hard to convince yourself to do it. Like eating more fruits and vegetables. Eating less processed food. Getting a good sweat going a couple of times a week. Some are easier to do than others... like giving up alcohol, giving up dairy, giving up gluten, etc.
When it comes down to it? The vast majority of us could eat more fruits and vegetables... and there's not many doctors who will tell you it's a bad idea to add fruits and vegetables. I can take each questionable item with a grain of salt and do research to see if there are studies on it. If it's proven to help MTHFR through good, scientific studies OR if it's just plain a good idea for everyone... then those are the changes I'll make first. Next will come the changes that offer little risk. I.e., most doctors don't tell you to eliminate gluten unless you have Celiacs disease... but, I don't think there's much risk to your health by eliminating it from your diet. Lastly will be the more extreme changes that might be a little more off the wall and might even have risk associated with them... those I'll work through with my doctor and implement them only after either some testing and/or at least long discussion around potential risks and signs to look for if it's not a good choice.
My plan is to introduce only ONE major life change/diet change a month. Given that it's a LONG list, it'll take me years to get through the list. But hopefully, by taking changes slowly it will become easier to make them habits and not just "I tried, I gave up, it's too hard". In my symptom log I'll track what I'm doing differently over time and see if these things help or not.
Lastly, there are also some tests to be ran and possible treatments based on that testing. My goal is to spend the next four to five months to understand those tests, the results and what they mean and what getting those results might mean to me for treatment and/or health issues. Then once I get there - that's when I'll start asking the doctor to start running the tests that make sense given my symptoms and concerns. Then I won't be testing blindly and my doctor won't make decisions on treatment based on old information and hopefully between us we'll get some good answers.
Anyway, that's my plan. Take it slowly, educate myself, research everything.
So, what's first?
Sigh.... First one is pretty easy to conceptualize. Eliminate things that are proven to be an issue - i.e., eliminate the things that cause harm. Makes sense right?
This includes elimination of folic acid, b6 and regular b12. The first two are pretty easy. I'm not taking them as supplements... but they do come in various fortified foods. So - no more fortified cereals, juices, etc. The last one? Makes me want to cry a little. April/May/June I was just convinced how awesome my B12 shots were. But honestly? they aren't helping now as much as they helped me when I first took them. I'm taking them twice as often and I'm worse for fatigue than I was in June. Per the experts cyanocobalamin (the injections I'm getting) isn't processed well by people with MTHFR. And in fact, will build up in the body because the body doesn't break it down, process it and excrete the excess properly or fully. My right side is starting to experience the tingling and numbing again. It might be that like the person with MTHFR who gets extremely high nutritional diet? that the extra B12 helped initially because at least the 60% I was processing was more than I was getting. But that over time the excess that wasn't getting processed started to build up like a toxin. When I was taking methylcobalamin I didn't get as good a results as the B12 injections... but it might have been simply that I wasn't getting enough of the other supplements that are on the list and that the short term benefits of the injections hid that issue.
While I'm at it, I will also eliminate alcohol. I don't drink much and I don't drink very often... so it's not a major lifestyle change. So there's no reason I can't start that now. I'm keeping my biggest vice - drinking Pepsi for now... but eliminating the intaking of bad first seems like a good first lifestyle change to try to make.
I'll start the methyl B12 in very low doses this week. And start adding the other supplements before trying to increase the dosages of any of them. Again, slow and steady with symptom tracking the whole way through.