Interrelated Gene Mutation issues

I know there have been a few posts about this here, a couple very similar recently, and I have been reading through them. I have just gotten my results back from 23andme and am trying to put them together in context with my healing process as a way of trying to make sense of them, and most importantly move forward.

My post is mostly me trying to make sure I am making sense of them in the right way, so any input would be greatly appriciated, but I am also hoping that writing it down here will also help get my own head round it, so don't feel obliged to comment....but for sure call me out if I have made a proper pigs breakfast out of my thinking!!

The problem at the moment seems to be that I get into my treatment, detoxing like crazy and I do OK for a while, then BAM, I crash, mostly with psych issues and literally go out of my head with depersonalisation, derealisation, paranoia and anxiety and a general inability to function as a 'normal' person or interact with anyone in a sensible fashion. My physical pain also increases, especially my neuro symptoms and pulling off treatments seems to be the only way to halt it. Increasing my detoxing and trying to push through it seems to make it worse.

So, first up I reported back Homozygous for MUTFR C677T, so I am reading that this can result in detoxing issues. I have read that I need to swap out my Folic acid and B12 for more suitable forms for this, which should help, right?

I also came back homozygous for MTR A2756G, which is reported as being very rare and needs supplementing with Folic acid and B12 (so that'd most likely explain why my blood work came back as deficient for both) so I am guessing that is compounding the MTHFR mutation problem?

Being homozygous for MTR is futher compounded by being Hetro for MTRR mutations, so I am not converting enough SAMe in my body. To be honest I started taking SAMe and felt it was having very positive effects on my mood, so I don't want to stop this, BUT I also came back as homozygous for CBS which means I am already upregulating to too much ammonia and sulphur so I have read that SAMe may need to be avoided as it contains sulphur? I also read a warning that Epsom salts can increase sulphur levels so should be avoided, but that seems counterintuative to my need to detox? Also that SAMe stimulates CBS upregulation, so that can't be good?? Plus killing Lyme produces more ammonia, so could that be the reason that I 'crash' when my ammonia levels get too high?? To be honest this part of the equation is the most confusing bit from an 'understanding the science' standpoint and the deatails are not for filling space here with, but it kinda makes sense to me in terms of what actually happens to me in real terms when I crash.

Now combine that with reporting homozygous for MAO-AR297R, which can be responsible for imbalances in neurotransmitters and a possible precondition towards irritability and angry outbursts (heellloooo Lyme rage, goodbye sanity lol!!)

Now I also came back hetro for COMT, which means that I may process dopamine etc more slowly, and while I am considering this much less of an immediate problem, since I also am homozygous for VAD Taq, it may or may not cause issues with Methyl donors, so suplementation for the MUTFR etc is going to have to be a low and slow process?

I have spent a good while pawing through various websites, and as we have come to learn and laugh at, there is always a contradictory arguement, LOL! But I know for sure that none of these gene mutations (or variations) have caused me big, if any, problems in the past, so I can only assume that the expression of their mutation is being sent a bit bonkers by chucking Lyme and Co into the mix? Bit like trying to make a cake that's had way too much baking soda thrown in....So now here I am wanting more than ever to get rid of the Lyme so that my crazy genes can get back on with doing what they were doing before and not compounding my herxes into one big brain melt down, LOL.

I know that this is a long ramble of a post and I am not certain anyone has anymore of an idea than I do what the best course of action is, but like I said, any input greatly appriciated. I am thinking of starting with the Folate and active B12 supplements - like real slow - while holding off my meds. I know that I need to detox well, and I do!, but can I be overdoing it, given the other gene mutations? I just need to stop the brain herxes, or at least get them to a level that I can still function at.

I understand that there is no easy 'ABC' to how genes and variants interact and are expressed under different circumstances so I am certaintly not looking for an 'ABC' of answers....but at the moment sticking on the meds and detaoxing like hell is causing chaos and stopping my meds for a sees the Lyme symptoms start to creep back. There has to be a solution the this, hey??!!??

Thank you for taking the time to read this :) Oh, and once I have figured this lot out, do I get an honoury degree in genetics and epigenetics to pin on my fridge, LOL???

Well, you dont look to have much brain fog from your ability to go into this stuff- and then put it in written sentence form LOL!

Obviously the less mutations one has, the easier to treat.

The problem with figuring this out is the sequence to what comes first. Neither Amy Yasko nor Ben Lynch seem to know this. You can look at all the INDIVIDUAL illustrations on Heartfixer, or google image, but nowhere does it say which cycle takes precedence, sequence order ect.

I tried treating the individual " meth cycles", with a Dr who knows this, actually two Drs. Even they were both overwhelmed since I have more mutations than they are used to. I spent a lot too. 23/me did point out a few very interesting things that I need to watch out for though.

Were about due for a forum dedicated to gene mutations pretty soon, the few out there are almost unused.

The best B12, the end of the conversion line, down from hydroxy B12, is adeno B12. Seeking Heath makes one , I think thats endorsed or owned by Dr Ben Lynch. I used it, along with other "mito-quality" vitamins had cellular levels tested (Spectrocell test), good levels of all vitamins, felt no different. Not to say someone else will though.

That test was $400, but it tests what in the cells (what matters most), not whats available in your blood. So I guess I didn't have any cell receptor blockage.

We need a decent well used forum for this, on HW or some other place!

well......

Upon my googling genetic mutations the last year on any forum I found, I have found other forum groups Ex: fibro, me/chronic fatigue with related questions. So we are a bit scattered around. I will say lymie groups as a whole seem to be more informed on this topic.

But there are some chronic fatigue people out there who stay on top of new health science, not surprisingly more informed than the "firbo' labeled people. The CF's seem to have graduated in knowledge past the "I have fibro cuz my doc said so" group.

I think there will be a popular forum for it in the future (the rest of the iceberg). It would be useful to have concentrated "gene mutants" in one place.

The "Gene Mutant Forum" Ha Ha....calling all mutants!

The epson baths - while you do see them cautioned against, I don't seem to have much of a problem with them. I don't know why, 'cause the high sulfur foods destroy me, and the animal proteins.

I guess it just depends on the person.

I did order some clay to try out clay baths though - hope it doesn't stain the tub, though it probably will. I'd like to try and get a cheap infrared sauna with my tax return as well. A super nice one would be cool, but I'm hoping I can get by with an inexpensive, then maybe get the real deal, when/if I get a little better.

Again, listen to your gut on it, see how the baths make you feel.

Silly Sheep, as you know, there are no easy answers. You have two cycles that don't recycle their products very well so each cycle must be adequately supplemented with the appropriate building blocks for them to function properly. Starting with the CBS and MTR mutations, your cycle won't recycle homocysteine. Your BHMT genes come into play and many of us often have issues with several of them. Caffeine seems to be an issue for some with your current mutations. The previous recommendations of adenosyl-B-12 would be appropriate as would lower doses of methylfolate.

High sulfur containing foods should be avoided as should high nitrogen based foods. Meats are high in both and can lead to your ammonia accumulation. Borrelia does adhere to plasminogen so as your methylation pathway begins to function better and your immune response goes up, your immune system may be able to attack the borrelia bound to the plasminogen. Plasminogen is high in nitrogen content and this could be one of the sources for your ammonia toxicity. Since this may be an issue, any additional nitrogen ingestion can be troublesome.

In addition to your folate cycle not recycling, your neurotransmitter pathway isn't recycling. This pathway can become blocked without having mutations, so you will need to be extra careful when treating. You can have deficiencies of tryptophan, tyrosine, serotonin, dopamine, and nor-epinephrine. Dopamine appears to be a problem for you given your symptoms and supplementing sub lingual melatonin spray may be beneficial. It acts as an antioxidant in addition to helping recycle dopamine.

Many people with your symptoms also have problems with metals. Aluminium, lead, and mercury are the main culprits in blocking your neurotransmitter pathway. Once you begin to treat, the borrelia die off can cause an overloading of your detox elimination pathways. This blocks pathways as well.

I hope you find someone who can help guide you through all of this, but eating correctly is a very important part of healing and the couple suggestions I made should be studied and evaluated so you can make the correct decision to help you heal. It will take some time, but you can do it.

If it were me, I'd rather take L-Arginine instead of ornithine. It's one step farther up the chain of degraded products in the urea cycle. Arginine is required for ammonia breakdown and many people that have hyperammoniaemia have a deficiency of arginine. about 40% of ingested arginine is used up by the bacteria in the GI tract and doesn't even make it to circulation. This tells me our flora needs arginine just like viruses and protozoans. When our flora takes a turn for the worse, maybe our intestinal arginine demand goes up as well? When I was sick, my food log showed that the foods that made me feel better were high in arginine. It also showed I needed phosphotidylcholine so that may be something you examine as well.

When we have Lyme, we make tremendous amounts of nitric oxide. Guess what is the nitrogenous precursor to nitric oxide.............arginine. If we use a lot of it, we must replace it. I'd check my arginine intake if I were in your situation.

Silly sheep

Your symptoms sound so similar to mine. My psych issues have increased 10 fold since starting treatment and the more I detox the worse I feel! I just ordered the 23 and me and my dr definetly suspects multiple mutations. So we shall see.
I have cut back a little on the detoxing and actually feel better.

Good for you in doing all the research. It seems so overwhelming for me but that might be due to Lyme brain! I am interested In you discoveries please keep us posted!!

Just an update and some pointers for Sandra, possibly??

I started on the L-arganine and apart from my teeth and jaw pain returning for a couple of days (a symptom that I hadn't had for ages - I don't have any issues with fillings or anything so I guess it is just a lyme symptom) it hasn't caused any additional problems.

I started on the Folate and adenso B12 in minute doses....so far so good, well no change for better of worse, so the optimist in me sees that nothing bad happening must be good, lol!

After being off all my meds for over a week some of my Lyme symptoms started returning - most noticably the shooting pains in my arms, shin and foot pain and nerve pains. Not to mention that fatigue which makes you feel like you could sink right through the floor, lol. So I am back on the core protocol for Lyme and Bart at very low doses, which seems to have brought my symptoms back to managable but I have kept the dosages really low so I don't herx, and detoxed like a mad woman, lol! I have also ordered the herbs that form buhners updated core lyme protocol so will be looking to add things/swap things up a bit when they arrive - the post here is not run by captain speedy so I should have time to make sure that the L arganine and B12 and folate are all OK first.

I have been reading Buhner's new book and am looking at some of the other herbs and supplements that he goes into more detail in regarding the rage and depression and am going to try adding some of those in too possibly. I don't know if you will read this Sandra, or if you are going with any of Buhners herbals? But his new book has some options regarding this if you are interested? I will keep you posted if you are :)

Also, from your research, what have you found that points to taking AdenoB12 instead of HydroxB12?

My poor kiddos have most of my stuff plus my husband appears to have CBS and MTHFR C677T. So that got one copy of those guys too.

k07, I suffer lyme rage like you wouldn't believe (I thwack trees, but that's another story, lol). I am hoping, that in part it is caused by not detoxing properly, I say hoping as there doesn't seem to be anything else keeping it in check.

So, first up I started on adenso B12 instead of methyl B12 because of possible problems with methyl donors, due to some of my mutations (Boy is that lot complicated, lol). I have started on a REALLY low dose - 1/5 of a tablet (tablets are 3000mgs) and the same for methyl folate (1/5 of a 1000mgs tablet). I have methyl B12 tablets, but I want to make sure that I am ok with the other stuff first.

Sandra - it could be that you are sensitive to methyl donors too - depending on what your results come back as - in that case hydroxy B12 could be causing you some issues. What dose are you on? The same with the 5-mthf. My reading from mthfr.net was that you must start on a tiny tiny dose or run the risk of possible side effects...which interestingly look much like my lyme symptoms, lol!!

PLUS, bear in mind that if you have a CBS mutation then you would need to address that first, otherwise you are adding stuff to detox but since the rest of the cycle isn't functioning properly you run the risk of causing a kinda toxin style traffic jam. (OK, so I am not one for the technical jargon, lol, but my brain looks at it best from a 3 year olds point of view, please don't hold it against me!!) With my Homo CBS mutation I started on L-arganine first - again low dose to begin with, then build up slowly...only then did I add in the B12 and 5-mthf.

The best info I found about the mthfr gene and methyl folate was here http://mthfr.net/methylfolate-side-effects/2012/03/01/ and the site has some really useful info that may help you understand the 'cause and effect' so to speak.

In addition I read a lot from heartfixer.com .....it is long and involved and not lyme brain friendly, but if you can compare your results to the info it might help a bit.

I was interested to read buhner refer to 'homicidal rage' specifically (that's an apt description, lol) and suicidal depression (I will tick that box too, lol) and for that I am going to be taking the other form of cats claw (unicaria r......the name evades me, grrrr) but it is part of his core protocol too, plus Tryptophan (I know that one, it's in cheese and stuff and makes you dopey, lol!!)

And on a more personal note, Sandra, I know exactly where you are at right now, and I know how terrifying it is too. Just know that you are not alone and that if I can do anything at all to help you understand all this or even just lend you an ear, I am here. My email is enabled, please drop me a line anytime :) I am not online everyday as I don't have an internet connection at home, but I check my emails a few times a week. I understand if you don't want to email me, but it would be nice to hear from you.

In a weird way it is comforting for me to know that it ain't just me (I have no doc here, understanding or otherwise, lol!). Hang in there!! We will get through this, one piece if the jigsaw at a time :)

Hey silly sheep-

I just saw these posts and sent you an email:) thanks for all this explanation! You are so great to explain all of this. Hope to hear back from you soon.