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» LymeNet Flash » Questions and Discussion » Medical Questions » MTHR gene mutation - a question

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Author Topic: MTHR gene mutation - a question
cactus
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Anyone else have this?

What does it mean? For someone who is not attempting a pregnancy?

LLMD mentioned that it can impact our ability to detox, and that it is connected to cardiovascular disease.

Anyone know how it impacts Lyme and co treatment?

Thanks,
cactus

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Did you ever stop to think, and forget to start again? - A.A. Milne

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springshowers
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I would love to know more about this too..
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TerryK
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Hi cactus! Good to see you posting and doing well.

MTHFR is only part of the methylation cycle mutations that can affect lyme patients.

Methylation mutations may cause lowered glutathione.
http://www.lymeinfo.net/methylationblock.html

Some methylation cycle issues impair heavy metal detox. Heavy metals have a synergistic relationship with lyme making it harder to get rid of lyme. I posted an animal study here a few years ago showing that it is harder to get rid of borrelia even with sub toxic levels of mercury.

Some methylation cycle mutations make it hard to get rid of parasites. Others can make it hard to deactivate viruses. The more infections, the harder it is for the immune system to get them under control.

Some methylation cycle mutations make it hard for the body to repair damaged tissue. Borrelia damages collagen. Effecient tissue repair would make it a lot easier to get over the damage cauased by lyme disease.

Some methylation cycle mutations make it hard for us to process sulfur which causes more toxins, adding to our heavy toxin burden due to lyme. Others make it hard to process ammonia and borrelia already causes excess ammonia so those of us with this mutation may have a LOT of ammonia building up in our systems.

I seem to have all of the mutations that I've mentioned according to my Yasko testing.

I'm running short on time these days so I'm not around much right now. I've posted several times here before about methylation issues and included lots of links so please do a search in the archives for more information.

I'll try to come back and check for questions but if I don't get back for a bit, Dawn in VA has learned a lot about methylation issues and can probably help answer questions if she is up to it.

Also, posting in the many groups that deal solely with methylation issues is a good idea when you have questions about it. There are many in the yahoo yasko group with lyme and methylation cycle issues and Rich, the guy who developed a simplified protocol to help deal with methylation issues, posts on the yasko group and is a good source of information as are many others over there.
The yahoo group
http://health.groups.yahoo.com/group/CFS_Yasko/

Dr. Yasko's group
http://www.ch3nutrigenomics.com/phpBB2/index.php?sid=6ddb9f1180ebc6eeaebc66541c1d3f04

another discussion group
http://me-cfsmethylation.com/viewforum.php?f=7

Here is a thread about methylation issues.
Methylation panel?
http://flash.lymenet.org/scripts/ultimatebb.cgi/topic/1/77338?

Hope this helps explain how they affect lyme patients.

Terry

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sparkle7
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Does anyone know how this differs from the HLA test (biotoxin sensitivity)?

It seems like there are many ways that the body detoxes. All of these genetic mutations get to be a bit confusing to me.

Is there any way to know which are more important to consider? Are there basic symptoms of these genetic mutations that one could assess before spending alot on testing? Are the tests actually accurate?

How many different tests should we get to see how our body is detoxing? Can anything be done about it? Do the "solutions" actually work?

I just don't want to spend another $10,000 on stuff that doesn't work & waste my time. I'm sure I'm not alone. I've read some of the forums on methylation & it's all pretty confusing.

I haven't really seen alot of people actually getting better by going through this. It would be nice to know if some people are actually helped by all of this complicated info.

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maureen2174
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I think it seems geared toward those with lyme who have CFS symptoms.

Sparkle- what are your symptoms (sorry I forget)?

I do think it is a good idea to know if you have MTHFR due to getting the right folate and making sure your homocysteine levels are in check.

I have no idea what all these other SNPs do or don't do- I didn't research them yet. Just decided to go with the simplified 5 for now.

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cactus
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Thanks so much for the replies.

Terry, your info and links are so helpful! Thank you, and I will search for your previous posts on the topic, too.

Healthy wishes to all,
cactus

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Did you ever stop to think, and forget to start again? - A.A. Milne

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TerryK
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Cactus - You are welcome! I'm glad you found the info helpful. [Smile]

Sparkle,
You have asked some good questions. HLA testing and methylation testing are not the same at all. They are testing entirely different things.

The result of HLA (Human leukocyte antigen) testing as it applies to biotoxins tells us if we make enough antibodies to remove the toxins that are specific to borrelia, mold, spider bites etc. etc.. That is not it's standard use though. It is typically used for tissue typing in organ transplants and in paternity tests.

There is no easy explanation for methylation that I can come up with at the moment but here is a link and some quotes from the link that help explain.

http://www.prohealth.com/fibromyalgia/blog/boardDetail.cfm?id=1148681

""Methylation cycle" is a term used in molecular biology to describe a particular series of biochemical reactions, where each step feeds into the next, eventually winding back up at the "top" where it starts all over again. Imagine it like the face of a clock. Certain specific biochemical reaction have to happen at various places along the way, in order to continue on around back to the top of the circle."

"Now, some people turn out to have genetic mutations ("single nucleotide polymorphisms") (or SNPs, pronounced "snips") that interfere with one or more of these biochemical reactions. These SNPs interrupt the cycle at one (or more) places around the face of the clock. It doesn't matter *where* the break is, the important thing is that the cycle is broken, and this lovely biochemical dance slows down and comes to a halt."

__________________________________________________



Sparkle wrote:
Is there any way to know which are more important to consider?

From what I've read, both of these area's could be critical to recovery. As far as biotoxins - Borrelia toxins cause many symptoms. Those who cannot remove them naturally may suffer with symptoms forever unless they take steps to get them out of the body. An individual's ability to get rid of biotoxins probably varies from one end of the spectrum to the other. Some might get rid of almost none, others can get rid of most.

Yasko states that if you have certain methylation cycle issues, it's like having diabetes and not treating it. You may have a very difficult time getting rid of infections if you have certain untreated methylation cycle issues. You may also have many symptoms that are hard to differentiate from Lyme disease.

Sparkle wrote:
Are there basic symptoms of these genetic mutations that one could assess before spending alot on testing? Are the tests actually accurate?

Yes, sorry I don't have a list off hand. Many overlap with lyme disease symptoms. It may be very hard to tell if one has active infection or an untreated genetic issue AND/OR in my opinion, it may be hard to get yourself into remission if you have these problems and they are not treated. My LLMD decided when/if I should get testing based on my response to treatment so I didn't have to decide on my own. It would have been much easier for me to blow it off had he not been urging me to get the testing.

Sparkle asked:
How many different tests should we get to see how our body is detoxing?

I would think that would depend on the individual and their response to treatment. My LLMD decided for me. I've had numerous tests based on my response to treatment. I am a heavy herxer and was very ill and in a constant herx the first few years of treatment. Things got a lot better as we added in the detox supports that were specific to my problems.

Sparkle:
Do the "solutions" actually work?

I can only speak for myself but yes, they have helped me a great deal. I'm still having problems getting rid of a parasitic infection though and I still have severe fatigue and other symptoms so it hasn't made me all well. Many symptoms have improved though.

That said, I've remained in treatment for Lyme, babesia and bartonella at the same time so while I can tie down some improvements to biotoxin and methylation treatment, I don't know about some other improvements for sure.

Sparkle asked
Are the tests actually accurate?

The HLA tests are accurate. The doctor who found the biotoxin connection regarding lyme, mold, spider bites etc. wrote a book called "Mold Warriors". There have been a few small studies related to biotoxins for mold but I don't know of any that are directly related to borrelia. In my view, it is a theory. It is not accepted my mainstream medicine as fact. I personally believe in it because when I stop the treatment, I get a lot sicker.

As verification I consider the fact that exposure to mold has a profound and negative effect on me immediately. Same for my sisters who also test positive. Also, I had a major relapse after a spider bite in 2000. My doctor thought I had serum poisoning from the spider bite toxins and since I tested positive on the HLA test for this too I am assuming that is why I got so sick from the spider bite. Starting lyme treatment made me a lot sicker and I was in a constant herx which is consistent with someone who can't get rid of biotoxins so all three things that tested positive have been verified for me as far as I'm concerened.

I've read that the methylation testing may not be 100% accurate but I haven't spent much time looking into that aspect. I have found the treatment to be very useful for myself. I immediately noticed a difference in my ability to sleep through the night. My daughter (who is not sick like I am), also noticed that she sleeps much better with the active form of folate.

Yasko does lab testing to check progress of her patients and based on her testing, there can be no doubt that more toxins are moved out of the system when the mutations are worked around with supplements. That said, there are those who feel she is a quack. I do not agree at all based on my experience and many others. Some with CFS may not get better for many reasons. I've noticed quite a few on some of the lists who only do the yasko protocol and don't treat for infection. That *may* be why some don't get better or maybe there are other issues that need to be uncovered.

You don't need the testing to see if you can get some benefit. You can try the simplified protocol for the methylation issue and you can try binders for a start on correcting the biotoxin problem. Binders are only a first step though so you might want to research further to determine what else you can do on your own.

I paid $625 for the full Yasko testing and I think it is cheaper now. The HLA testing was covered by insurance. Some of the methylation testing can be covered by insurance as well if you can get a doctor to run the tests for you.

So, to wrap it up, I've been helped and I've read of others who have been helped. Some may not be helped and there could be many reasons for that. These are just more tools for lyme patients to consider.

Maureen - yes, many with the methylation cycle issues have CFS type symptoms. It might be because that is the population that knows about the treatment at this point in time. I personally did not have CFS symptoms for many years after infected until the infections took me down enough for severe fatigue to manifest. Based on my experience and in my opinion, even those who are not currently manifesting CFS symtpoms may be affected by methylation issues.

Consequences of some of these methylation cycle mutations can be cancer, heart disease, miscarriage, autism and the list is probably very long. My Aunt died of colon cancer last year. Turns out the folic acid problem might be implicated in colon cancer. Every person in my family who has been tested for the folic acid problem has it. That is 6 out of 6 so far.

I don't think anyone has all the answers. I know it gets expensive to keep testing and trying new things. If I hadn't been so sick from Lyme treatment I doubt I would have agreed to pay for the Yasko test out of pocket. It emptied my bank account at the time but my husband and I trusted my LLMD and decided to do it. I have found it was worth it for me.


I won't be around much today but I'll come back as soon as I can to see if you have questions.

Terry
I'm not a doctor

[ 04-12-2010, 10:10 AM: Message edited by: TerryK ]

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sparkle7
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Thank you so much, Terry! You are a wealth of information... If I had a million dollars, I would send it to you.

I'm considering the Genova Detoxigenomics test. I'm going to have to compare it to Dr. Yasko's testing. They both seem around the same price.

With the HLA mutation - biotoxin... Can you use any other binders besides chlorestramine & Welcol? I was taking Welcol for a bit bit I didn't notice much of a difference.

I really like Dr. Schulze's Intestinal Cleanse #2. It's got charcoal, psylium, pectin, flaxseed & some other things. I'm not sure if chlorestramine cleans the blood or if it's mainly geared towards the intestines or some other system. OR if it's better than what we can get without a prescription.

It would seem like herbal blood cleaners may be useful. I haven't really gotten into that at this point. There are some good ones like Oregon Grape Root, Red Clover, Chapparal - I'm sure there are others.

How about the Immuno Genomic Profile that Genova offers? Does anyone know anything about that? Is this info included in the Yasko test? Is this a benefit to Lyme people?

Some people here feel that AI covers all of these issues... Any thoughts about that?

PS - maureen - I had CFS about 20 years ago. I was able to get well but got Fibro about 8 years later. The Fibro turned out to be Lyme 9 years after that...

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TerryK
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sparkle asked
With the HLA mutation - biotoxin... Can you use any other binders besides chlorestramine & Welcol?

Yes you can. I don't think there are any studies on most of these but I've read that charcoal is only 62% as effective as cholestyramine. That was written by an LLMD. Not sure how that figure was arrived at though.

Here are over the counter supplements that are listed in various places as working for binding biotoxins.
beta sitosterol
cholestepure
modified apple pectin
Activated Charcoal
micronized chitosan
Sarsparilla (per Dr. K)
Butyrate
"The oral use of butyrate, a short 4-carbon chain fatty acid, is of striking benefit (Fusunyan et al 1998, Segain et al 1983, Yin et al 2001) in mobilizing renegade fats, lowering TNFalpha, sequestering ammonia, and clearing biotoxins."

Sparkle wrote:
I was taking Welcol for a bit bit I didn't notice much of a difference.

You may not have been taking enough or maybe you don't need it. 3X's a day is recommended. 1X per day will not do much. 2X per day might be helpful.

That said, even those who don't have the HLA genetic issue still may get benefit from a binder, especially if they are just starting treatment and have a high pathogen load.

Sparkle wrote:
I'm not sure if chlorestramine cleans the blood or if it's mainly geared towards the intestines or some other system.

http://www.biotoxin.info/treatment
What is Cholestyramine (CSM) and How Does it Work?

Cholestyramine (Questran, Questran Light, Cholybar) is a bile acid sequestrant, which binds bile in the gastrointestinal tract to prevent its reabsorption. It increases removal of bile acids from body by forming insoluble complexes in intestine, which are then excreted in the feces.

When bile acids are excreted, plasma cholesterol is converted to bile acid to normalize bile acid levels. The conversion of cholesterol lowers plasma cholesterol concentrations.

Bile acid sequestrants are primarily used to treat hypercholesterolemia, but can also be used to treat the pruritus, or itching, that often occurs during liver failure due to the liver's inability to eliminate bile.

Sparkle wrote:
It would seem like herbal blood cleaners may be useful. I haven't really gotten into that at this point

Blood cleansers won't replace cholestyramine because they don't do the same thing.

Sparkle wrote:
How about the Immuno Genomic Profile that Genova offers? Does anyone know anything about that?

The thread link that I gave above for methylation issues talks about some genova tests. I'm not sure if they are the same as what you are asking about but you might want to check it out.

Sparkle wrote:
I had CFS about 20 years ago. I was able to get well but got Fibro about 8 years later. The Fibro turned out to be Lyme 9 years after that...

There is a great overlap of symptoms between these illnesses. I had a diagnosis of CFS and Fibro which both turned out to be lyme. Given the relapsing nature of lyme disease, it's possible that you have lyme all along.

Terry
I'm not a doctor

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sparkle7
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Thank you. I was taking Welchol 2x a day if I recall correctly. I was taking it with some fatty food - I guess to cause the bile to flow...

If we aren't taking something to kill Lyme (Bb) do well still need this? How about babesia? Are the biotoxins different? I guess this was why I was thinking of the biotoxins in the blood.

Also, bart - I don't think I have bart, though.

Is there something to remove toxins from the blood? Being 62% as effective as chlorestramine is not to bad for charcoal considering it's not a drug.

Yes - I agree about Fibro, CFS, Lyme, co-infections... They all overlap. It's really hard to know what is what. I may have had Lyme all of the time. It's hard to know.

I do remember getting a very bad flu or viral infection in August when I moved into my apartment. This was around 1996. I don't remember any tick bite but this could have been when I was infected. It was unusual to get the flu in August.

I did have a test for Epstein-Barr back in the 80's but it was negative. Who knows, though. Maybe the test was wrong...?

I'm going to compare the Genova tests to Dr. Yasko's tests when I get a chance. I'll post any findings here when I do.

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TerryK
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Cactus - sorry for getting off the topic of the thread.

Sparkle - we probably need to start another thread if more discussion is needed about biotoxins after this since this is not the topic of the thread.

Sparkle wrote:
I was taking Welchol 2x a day if I recall correctly. I was taking it with some fatty food - I guess to cause the bile to flow...


You are supposed to eat 1/2 hour AFTER taking cholestyramine. This gives the cholestyramine or welchol enough time to pull the toxins into the bile. Eating something with fat then would dump the bile and allow the cholestyramine to bind to and excrete the toxins through a bowel movement. My doctor prescribed it 3X's per day but I think Dr. S. actually recommends it 4X's a day.

sparkle asked:
If we aren't taking something to kill Lyme (Bb) do well still need this?

As long as more toxins are being created, those with the HLA issue should keep taking a binder. My personal opinion is that lyme patients probably will need it off and on for the rest of their lives. Borrelia has a natural life cycle, including death so even if we aren't actively killing it we will accumulate the toxins if we can't naturally excrete them.

sparkle asked:
How about babesia? Are the biotoxins different? I guess this was why I was thinking of the biotoxins in the blood.

I've read that some think babesia creates a similar toxin but I think that is an unknown at this time.

sparkle asked:
Is there something to remove toxins from the blood?

There are many things to remove toxins from the blood but that is not where you will find the type of toxins we are talking about here. Borrelia toxins love fat which is where they are stored. This is partly why our leptin gets so messed up with biotoxin illness and why it is impossible for some of us to lose weight. Biotoxins cause leptin resistance and leptin tells our body to make fat. My leptin is 3X's + higher than it should be. Another verification that biotoxins are a major issue for me.

Cholestyramine helps a lot but personally I don't think it does a complete job of getting rid of the toxins. I wouldn't do well with something that only works 62% as well as cholestyramine but maybe some people don't have it as bad as I do. I think butyrate holds some promise and it's non-prescription.

Sparkle wrote:
I do remember getting a very bad flu or viral infection in August when I moved into my apartment. This was around 1996. I don't remember any tick bite but this could have been when I was infected. It was unusual to get the flu in August.

This raises some alarm bells for me to the possibility of mold exposure. Mold can cause similar symptoms to lyme for some of us and it can drive down the immune system and allow other infections that have been dormant to take hold, including a pre-existing lyme infection. Mold may not be visible but hidden in a wall, behind a dishwasher etc.. Just a thought.

Terry
I'm not a doctor

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Dawn in VA
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Ditto to what TerryK wrote about butyrate. Seems very safe (it's in butter, afterall). I have not taken it myself, as I'm still working with the Krebs cycle stuff, but I think I will check it out further.

PS Terry, how are you these days? Been thinking about you and hope you are feeling good/better. Hugs!

--------------------
(The ole disclaimer: I'm not a doctor.)

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maureen2174
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Hi,

I am doing the simplified 5 protocol now to address this and was wondering if you are supposed to increase the dosages as you move along or do you stay on the same dosages?

I know it says:

1/4 pill of folapro
1/4 pill of actifolate
2 pills of multi neuro. formula (work up to this)
1 of perque b12
1 of phos.

i am taking the same dosages mentioned, except i did increase the folate to 1/2 pill of each (so 800 mcg total). am i supposed to work up to 1 pill each and the 6 pills of the multi (as mentioned on the bottle as a serving size?)

just a little confused!

thanks, maureen

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Hoosiers51
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My understanding was that you are only supposed to stay on 1/4 of each of those pills, and even THAT should be worked up to. Could be wrong, but that's my recollection/understanding.

I never had any bad reactions at all to these supps....I think the people that do are the ones that are lifting some kind of significant block and are thus detoxing a lot.

Eventually I upped the 1/4's to 1/2's, and then eventually to the full pill. Though I don't think that is part of the protocol. I just did it on my own.

I didn't have any detox reactions or any real improvements to where I said, "this is great...this is a missing piece of the puzzle." So that lead me to believe either I don't have these issues, or my issues are different than what this protocol corrects.

Overall I'm very confused by it, so that's why I just started using supps I chose myself (the Thorne stuff I've mentioned before and the Now brand TMG).

I would LOVE to get all the Yasko testing done in a perfect world, but right now I can't justify spending the money on it.

Please let us know what you experience from the Simplified 5! Good luck! [Smile]

And sorry I don't have many answers. I'm not really the one to ask about this stuff, but I thought I'd reply anyways.

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Hoosiers51
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ps---interestingly, the only one of those 5 that my body really seemed to crave was the Multi Neuro Formula.

Last year when I got pregnant, the docs told me to stop pretty much all my supps, and I was really sad about not being able to take those yellow tabs anymore, because I felt those actually did help some.

Remembering that is making me think maybe I should go back on that one. I think the Perque B12 seemed pretty good too. So yes, they are good supplements.

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maureen2174
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thanks for the reply. i am trying to find a good multi or prenatal that does not have folic acid in it, but rather the methyl folate. i thought i found one with methyl folate, but it still have 400 mcg of folic acid which is strange, since they compete with each other.

do you or anyone else have any ideas? my ultimate goal is to be able to get pregnant when my body is ready, so i know i won't be able to stay on the yellow tabs (multi neuro) at some point.

i am not dumping any toxins either from the simplified 5. i have been on it at least a couple of weeks now. i upped each folate to 1/2 and started right away with the 2 tablets of multineuro (by mistake, but no real reaction). if anything, i feel much better- no herxing or bad reactions.

i do know i have the mthfr mutations though, so this is strange to me- i figured when i opened the pathways, i would dump toxins and feel a lot worse, but it seems to be the opposite.

the only other supplements i am taking right now in addition to these are vitamin c and serrapeptase and i use magnesium oil on my skin once a day. of course, my probiotics and sometimes whey protein. that's it though.

i am back to feeling pretty good again which makes me think those prenatal vitamins and folcaps were definitely causing an issue for me.

if i could just get rid of my left ear fullness and pulsating feeling i would be good.

my plan now is to do this protocol for a few months and do some rifing with it (which i have not really been doing lately). then if i still feel good, transition to an appropriate prenatal or multivitamin, include 800 mcg or 1 mg of methyl folate, go on amoxy, and try to get pregnant. i feel so much less toxic right now, which i am thrilled about.


did you take the pills at night or during the day?

Maureen

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kateaton
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I too have been on the simplified protocol for a few months and have had to reaction whatsoever. I emailed with Rich (the researcher who came up with this protocol) about this, and his response was that I either had a significant amino acid deficiency, a significant deficiency in some of the other co-factor B vitamins, or a heavy metal toxicity. He said that in his experience these are the things that keep the methylation cycle blocked.

So, I've done a bit more testing to find out about heavy metals and amino acids. I should find out in a week.
Also, the company Vitamin Diagnostics does a test that directly tests whether or not you have a block in your methylation cycle. I'm thinking about just getting this done- so I'll know whether I even need to bother with this issue.

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maureen2174
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well i wouldn't say i have no reaction at all, just no "bad" reaction. I feel so much better in general. i was expecting a "bad" reaction due to toxins being released.
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sparkle7
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I was reading about a vitamin supplement that is supposed to take into consideration this methylation concept -

The brand is Ola Loa. I don't want to recommend them since I have no idea if they are any good. It's just that they do take this issue into account.

Thanks Terry! I did take the Welchol about 30 minutes after. It's just been a while. Mold may be an issue. It was an old house. But I'm pretty used to old houses. I lived in them for most of my life. I don't have many allergies in general. I did gat a really bad, knock down "flu", though.

Maureen & Kateaton (& everyone) - please let us know how you are doing as time passes.

Good to hear you are feeling better Maureen! I think you can get a multi vitamin without folic acid from Dr. Yasko's site where she sells her products.

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