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Doctoral student from Lancaster University at Phoenix Rising Forum

Discussion in 'Genetic Testing and SNPs' started by Mette (PhD student UK), Aug 17, 2012.

  1. Esther12

    Esther12 Senior Member

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    In a society where people were treated reasonably, the only value of genetic testing would come from the provision of accurate information which leads to a meaningful increase in understanding. In the case of CFS: 'these results indicate a propensity for these problems which can cause disabling fatigue'.

    In a society where quackery is politically powerful, and often inflicted upon those with diagnoses like CFS by those with power and authority, even genetic testing without real explanatory power could still be of use as a way of supporting narratives helpful to patients. If a doctor with power over a patient's ability to access disability benefits is unreasonably claiming that the disability in CFS results from deconditioning and can be reversed by exercise, then a meaningless genetic test which has been misinterpreted to allow a claim of objective evidence of genetic problems which lead to disabling fatigue, then this could help one avoid absolute poverty.

    There is a danger that taking such a pragmatic approach will lead to patients being treated even more dismissively once it has been properly assessed. Quackery useful to those in a position of weakness seems to be less well tolerated than quackery useful to those in positions of power. In the long run I think that pragmatic approaches almost always end up favouring those already in positions of power.
    PhoenixDown likes this.
  2. greenshots

    greenshots Senior Member

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    I tested my children first since they had autism, which according to 15 specialists was irreversible.
    I had heard about methylation pathway stuff from my neighbor, who was also a family medicine doctor. His son & wife were being treated by their practitioner using the methylation pathway panel and both were doing great! His wife had CFS and his son was high functinng autism (not Aspergers, autism) and both are healthy and "neurotypical now"
    Then I went to one of my dad's cardiologist appts with him and somehow the comment of autism came up to which this cardiologist said "You should see this practitioner, she's a visionary and a genius and can help your children" so it dawned on me that this wasn't just some kind of new age quackery (I'm an ICU nurse so originally trained in allopathic medicine).

    I had no real expectations but hoped that both doctors were right. As time went by, I would run into people who had ALS, or Parkinson's or MS and had seen this practitioner and were either healed or well on their way there. It gave me more hope. I couldn't understand all the scientific and biochemistry terms so had to study alott! But eventually, it got better and our practitioner walked us through it. Turns out, she was pulled into this the same way everyone else was since her son had PANDAS, a strep related brain disorder but she also had a close friend with MS. She has since fully recovered both and now her friend works with her.

    We had some basic chemistry and complicated tests that our practitioner used to ruled out an Inborn error of metabolism (something no other doctor even bothered to do once autism was given as the umbrella term). She found a mitochondrial disorder in my daughter and we used some of the same supplements for both kids. Where my daughter really improved, my son had only minor improvements and this is where the genes came in. He has both MTHFRs, the CBS c699t, SHMT, MTR/MTRR, COMT ++ and NOS as well as some other minor players. We started ticking them off in the order she felt mattered most. Like Yasko, she felt they mattered but the SHMT and CBS mattered most.

    It wasn't an overnight success but after 3 months he was looking us in the eyes and talking, TALKING! To us. Now he wasn't "normal" but he also wasn't miserable to be with and didn't tantrum all day and would communcate instead of scream.

    At 6-7 months he was talking, telling me he loved me! And able to attend school with an aid. He could do some of the work but had so much trouble in classes and never made any friends. He still stimmed alott by flapping & jumping.

    At 12 months he was very lucid, alert, communicated well, was exceeding teachers expectations. He had a best friend and was jumping into sports games that started up at lunch (A HUGE STEP!)

    At 18 months he stopped stimming, could pass for normal, and was more like an ADHD kid.

    At 2 years he was fully "normal" with varied interests, good communication with peers and adults, and no odd stims.

    My daughter did fantastically as well but hers being less severe, were more gradual.

    Long story short, I was crumbling under the stress of all of this and working full time and overtime shifts in the ICU to pay for all this stuff. I was constantly exhausted and depressed and got the flu one fine day and sometime later, found myself bedridden and unable to work. I just didn't have the mental stamina anymore for methylation medicine and hoped for an easier way outta this mess. So I saw all the famous CFS docs in hopes that I could start a few things and be done with it. What amazing denial? I saw what this science did with my own eyes but just couldn't get the energy to figure myself out. Finally, I landed in the ICU myself, in a near coma and no one could figure it out. So my neighbor called my kid's doc and she came down immediately. Having the genes from both kids made her suggest different treatments which helped drastically! Then I got my testng done and had the full CBS, full MTHFR, NOS, and a grand total of 22/30 defects! I truly thank God for bringing her into our lives because she saved us all.

    After 20 months on gene and biochemical therapy I am now 90-95% back to normal. In fact, friends and family say I'm better than I was since I'm stable, have less moodiness, and don't have the constant ups and downs I used to have. A friend of mine started a biomed group for adults (some older kids) and there are 30 of us at last count. We all started within a year of each other and even though there haven't been any overnight cures, every single person has made great strides. Many of us don't participate that much anymore since we are doing so well. There are 6 left who've only made 50% gains and are moving forward on the rest of their worst genes (the oldest members take longer).

    Thats the reason I believe the genes work. I know there are more answers out there and they're sure to come but with researchers like Dr. James, Deth, Vank, and doctors willing to stand up for us, well, we'll get he rest of the way.


    RosieBee likes this.
  3. Little Bluestem

    Little Bluestem Senescent on the Illinois prairie, USA

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    For a genetic test to be useful to me it would have to provide some information that would help me determine whether or not to make some specific change in the way I am caring for myself.
  4. Mette (PhD student UK)

    Mette (PhD student UK)

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    Angela,

    Wow! This is truly an amazing story, and I’m very happy to hear that you and your kids are doing well. And thanks so much for sharing.
    I’m wondering about the gene and biochemical therapy you’ve gone through. What kind of therapy is it? I understand that you can take RNA supplements. How does it work?
  5. Marlène

    Marlène Senior Member

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    Decision: to understand why my body is not working, why symptoms are there and not in somebody else
    Expectation: a confirmation of my intuition. Many symptoms fit into the results.
    Change: a new protocol and more awareness about triggers

    Compare it to buying a suit. I need to know the exact measures. One size does not fit all.
    With genetic testing I know my sizes.
    greenshots and taniaaust1 like this.
  6. taniaaust1

    taniaaust1 Senior Member

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    My CFS specialist run a homocysteine test on me and due to my test result which came back, he realised I had a MTHFR polymorphism (I have the two copies of this gene). He was sure of this just from my homoecystine test results and hence wanted me to add supplements due to it (as that polymorphism increases risk of several things eg strokes etc) but asked me if I wanted a MTHFR test or not just to be sure. So of cause I said yes (I hate supplementating anything without some evidence to do so).

    The test came back positive..so I then started supplementation. In some ways thou one could say it was bad news finding out one has an abnormality which increases health risks, but this test coming back positive helped me by answering questions Id had and been asking myself for 20 years... it was so relieving to finally know the answer. So to me it wasnt bad news.

    My daughter was born severely disabled (sacral agenesis).. and doctors hadnt known why. http://en.wikipediaorg/wiki?Scral_agenesis . I'd blamed myself some due to her disability as I'd gotten pregnant with her while having a copper IUD in and hadnt realise I was pregnant for the first 3mths... so thought maybe I was at fault? Finding out that it was a genetic issue instead.. was quite relieving to me!! I now know Im no way at blame, I cant help what my genes carry, I cant help what my parents passed down to me..

    *note.. having this polymorphism also scienctifically means that my methylation cycle is subpar (those with 2 copies of this gene have 70% less functioning around folate absorption etc). So this also then gave me a treatment option to try around by trying to help my bodies methylation issues. (and one cant say that this cant affect me as it already has hugely affected my life by causing my child to be disabled and born deformed). I truely dont want this polymorphism causing any more issues in my life, I feel empowered knowing I can do something about lessening my risks around getting more issues due to it..

    Anyway.. just wanted to let you know that in my case knowing this info brought me a ton of relief and has helped me (emotionally), even thou supplementing for this methylation issue hasnt helped my ME get better at all. (maybe i also have other methylation issues? I havent persued thou getting more testing done due to money and tests being hard to get).

    Note.. quite possibly those who have ME (I have the virally/autonomic dysfunction kind) have more polymorphsims (i say this as methylation protocols help many who have ME/CFS).

    If I'd known I had this genetic issue before I got pregnant.. my daughters severe disability (doctors thought she'd never walk, she was in a wheelchair at times even in highschool..she's incontient too) would of been prevented. This issue also carries a quite increased risk of miscarriages which also may be prevented ie baby asprin (as the polymorphism causes thickening/clotting of the blood) and extra folate on top of the norm, if one knows one has this polymorphism (which is quite common anyway).
  7. greenshots

    greenshots Senior Member

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    It meant we started very specific supplements based on each enzyme or gene's malfunction. As an example, my daughter started voraciously biting her nails and worrying about almost everything at 2-3 years old. She has a complete ACE gene deletion and this coincides with alotta anxiety. Since she's been on the ACE RNA, she no longer bites her nails or worries.

    As for me and my son, we have alotta genetic aberrations but when we started the cofactors or nutrients that normally allow the enzyme or gene to work correctly, we started excreting metals, toxins, and virus like gangbusters. This is what our bodies shoulda been doing all along but weren't so our garbage pails were incredibly jampacked! Using L biopterin to help support BH4 for neurotransmitters and waste clean up or setria to support glutathione, or an RNA for the CBS upregulation (I have a double defect there) has made all the difference in how my biochemistry works. I'm able to filter out the bad stuff and maintain my health.
  8. triffid113

    triffid113 Day of the Square Peg

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    Ok, I have not been (and would not care to be) diagnosed with ME (although I believe it is in my family and I easily observe that I am much more fatigued than my friends and my sisters (who inherit from my mothers' side - no ME issues there) and I also observe that I have every single genetic defect the ME people have and many more besides (I have 18 genetic defects out of 30 tested - Yasko panel). I have not effectively used the Yasko panel and yet I believe it is invaluable to me.

    I believe in Freddd's protocol and those who have gotton that protocol to work for them have experimented with it - more of this and less of that sort of thing - until it worked for them. Well such experimenting daunted me as it seemed like there were too many possible dose permutations to ever guess right so I thought a genetic test to identify exactly which supplements I really needed and which I could expend would be the key. It turns out Yasko prescribed what ammounted to 60 pills for me! In other words, there is nothing I can genetically expend with and there is more than on Freddd's protocol that I need! So it kept me from wasting time permuting and trying to get rid of supplements by trial and error. Instead I started with Yasko's list and compared it to my own (developed over lifelong) protocol which I was in NO WAY going to abandon and I turned my attention to some of the more objectionable bits of her protocol and found tests to prove I did not need them. So, for instance, she said I need charcoal and yucca to get rid of ammonia, as well as a low protein diet. I always eat a low protein diet but occasionally such as holidays I do not. So I ate 40g protein and measured serum ammonia - found no problem - no need for yucca etc. Then I ate 80g protein and tested serum ammonia - again I was in range. Bam -! I dropped the yucca and charcoal off her protocol. I then retested my homocysteine and found I had gotton it perfect with Freddd's protocol so no need for anything to raise it. But I didn't like taking the B12 sublingual so I left it off and retested...my homocysteine raised but not enough to signify - bam! I was able to drop that off the protocol (because I take mB12 2x/day in my Thorne Basic B). Which incidentally I was also able to leave off the extra folinic acid supplement because I got my homocysteine to a perfect 6.3 with just the folinic acid in Thorne Basic B. I tested serum carnitine and was able to prove to myself I did not need to supplement it. Over time with irregular but periodic retesting of homocysteine I have found I need a separate protocol during allergy season since (bad) allergies use up zinc at a tremendous rate (75mg/day) and zinc is required for methionine synthase (puts my methyl cycle out of whack). I had stopped taking zinc when I turned 50 due to borderline low copper but I discovered I really did need the high zinc (just not all the time). I also learned I get adrenal problems and thyroid problems during allergy season and so have had to develop quite a different protocol during allergy season vs. not. (I have high blood pressure normally due to 3 genes and cannot eat salt but during allergy season I have low blood pressure and have to eat salt or I pass out). Due to the fact that I have 18 genetic defects out of 30 I was daunted at the idea of researching all of them so I basically had to work from the doctor's supplement reccomendations for those defects and comparing to my own and come up with a modified protocol. I do feel a comfort knowing that as new studies come out I can know which apply to me because I have had my genes mapped. I can take advantage of any new thing as soon as I have time to research any particular gene. But my basic benefit was the doctor mapping out the genetics so I could understand it and identifying supplement(s) to get around each one - a starting list made just for me. Please understand I know different things than Yasko and there is no one I give control of my health to...so she recommended HB12 but I never had any inention of switching from my mB12. I basically do follow a modified Freddd protocol because it makes SENSE to me -- why take something your body may not be able to break down when you can take the active forms? Well in my case with 18 broken enzymes, it would not be a wise decision at all...

    Triff
  9. greenshots

    greenshots Senior Member

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    Rydra, or Triff, I was pretty sure you were one and the same but this pretty much confirms it. I would have responded sooner but just ran across this. I think you need to be careful about assuming that anyone is 100% right about any protocol whether its Yasko or Kane, or Myhill, or Pall, or whoever. I've seen the computer print out from the Yasko tests recommending a zillion supplements too but when you aren't seeing people, you have to CYA or cover your ass in this liability driven age. I think its probably worse for alternative practitioners.
    I completely ignored that generic print up since I had someone guiding me thru it but for the average person, I would say that you just pick the biggest problems and use supplements that cover alotta issues whenever possible and slowly work thru it. I doubt most people need that many but they don't know where to start. You can't use them all or you'd be swigging back pills all day. It takes some research, gut feelings, and a sense for what your main problems are (chemicals, infection triggers) but it can guide you there.
    maryb, golden and Dreambirdie like this.
  10. golden

    golden Senior Member

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    Greenshots,

    You seem to have a knowledgeable Overview of all the tests which is what I am failing to get...

    If we say 'for entertainment purposes only' - (to free us all from any liability lol) -
    I was hoping you could direct me to the best test panel... including Myhills urination panel which is on her new methylation page...

    Thanks :)
  11. triffid113

    triffid113 Day of the Square Peg

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    Well actually I agree with what you say Greenshots...it's pretty much what I did. That list of supplements does NOT say, however, which supplement is for which genetic defect, which makes it hard. Somehow (my doctor?) I became aware of what some of them were on the list for (such as the ones concerning ammonia) and frankly ammonia was not an issue on my radar and I needed to find out if it should have been. I do NOT think we should just ignore what Yasko recommends, but that we should understand it and use it as an opinion of what might be applicable to us (and then form our own opinions, such as via testing). I did ignore all her RNA products. I never found anyone who thinks they do any good and most people ignore them.

    I ESPECIALLY agree that when prioritizing supplements one should consider how widely applicable they are. I choose supplements as follows:

    1. Make sure to cover ALL the bases...such as via a good multi. Our food supply does NOT contain the advertised vitamins and minerals in it, nor do any of us (?) never eat junk, and also many of these nutrition strategies can lead to deficiencies, especially mineral* deficiencies, thus one way or another if you do not make sure to get a necessary nurient, it will come back to haunt you
    2. Pick supplements that meet the most basic needs (in other words I pick a vitamin or mineral required for health over an herbal as no one ever had a deficiency of turmeric, for instance)
    3. Pick supplements that cover the most issues or the most pressing issues

    * I have come to believe that not only does methylation open up formerly closed pathways that may need more potassium, but there are possibilities for it to require extra magesium also and potentially other minerals such as zinc (methionine synthase needs zinc). So, for instance, if you had a P5P deficiency and then you supplied it, your body would get rid of excess homocysteine and the path to get rid of this excess homocysteine will use up magnesium. If you do not have enough magnesium (such as if you are a heart patient) it could potentially cause a heart attack. Just a thought. I have taken vitamins my whole life and I have always been prone to electrolyte difficulties. I carry cal-mag citrate capsules with me in a pill-carrier on my keychain for those times when my shoulders begin to hurt or I get shakey. I thought it was to neutralize excess acidity causing calcium to be robbed from my bones, but it could be the magnesium as well that helps. I do not take potassium with me. I have supplemented it at 500mg/day, but if I have a UTI I cannot excrete it well so cannot supplement it. (I am finding it hard to tell if I have a UTI...as it seems I have all the symptoms but due to take d-mannose I tested not to have it. (I still think I do have a UTI though)). Since I am not sure about supplementing potassium, I have lowered my active B's for now to just the Thorne Basic B's (not the extra mfolate and P5P and 1/2 the TMG).

    My points are that I very strongly believe in covering ALL the bases. And that one needs to keep an eye out for electrolyte problems when supplementing. Once all bases are covered, then choose additional supplements based on greatest need and widest applicability. (So for me I take Olive Leaf extract because it is extremely beneficial for high blood pressure, which will kill me if I don't take care of that. So doesn't matter if it fixes anything else).

    (P.S. I am Triff, Rydra, and from the old B12 site, MadA)
    helen1 likes this.
  12. triffid113

    triffid113 Day of the Square Peg

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    P.S. Everyone is different from me as I have so many genetic defects, that it is only beginning to dawn on me that others may be getting electrolyte problems too when supplementing...first Freddd started publishing the potassium issues and now I am adding on the cal/mag/zinc issues. You may find you need to supplement these or other minerals.

    But I can do this blythely because I have a VDR genetic defect and cannot hang on to Vitamin D (may make kidney stones less likely). So I just want to caution anyone supplementing minerals as a result of anything I said that I always take my cal/mag in citrate form. Citrates make stones far less likely (I want to say they prevent stones). Rand56 first clued me in to this and I have found studies to support that it is true, so be aware.
  13. greenshots

    greenshots Senior Member

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    Actually, I use several RNA, as do my kids, my mom (ACE), sister, and many friends from my old biomed group and we've all had really good results with some of them. My doc wasn't a big fan of starting there, unless you have MCS or something, but she did find a handful of them very helpful. That adds to roughly 12 people besides myself, maybe a few more.

    And Rydra, I enjoy having your input since debate stimulates others to chime in and it makes me think more. I've tempered many of my theories from discussions with you, Freddd, Rich, and some others. Debate is never a bad thing in my book.


    helen1 likes this.
  14. Dreambirdie

    Dreambirdie work in progress

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    greenshots Which RNAs do you use and how did you know you needed them? I am still a newbie on the methylation highway, and up for learning whatever I can. Your input has been very helpful.

    So far, I've learned that my CBS snip is not a big deal, and that it's not significant enough to fuss over. I got the urine sulfate test strips, and have never tested over 800, often 400. I eat lotsa cruciferous vegies, garlic, meat, eggs, etc. The one very interesting result the urine tests revealed to me was that taking several doses of NAC/day actually LOWERS my urine sulfate the following day. I have always done well with NAC. I imagine it helps me increase glutathione and in the process it clears the sulfur pathway.

    I take no methylfolate. I do not do well with it for now, and am not willing to throw myself into a tailspin, which happens whenever I add it in. I think I get enough folate from foods I eat--especially all the greens, herbs, and liver. I can, however, tolerate and benefit from a small dose of MB12 (250 mcg) at this point. Will try to increase it after the worst season of the year (spring!) is over.

    I definitely need electrolytes--magnesium and potassium in particular. I have nasty reactions to zinc, probably because it mobilizes the excess of copper that always shows up in hair analyses. I also need to make sure I get enough salt. I have hideously low b.p.--90/50, and sodium helps.

    Here's my methylation analysis, in case you want to add any other thoughts. Thanks. :)

    Methylation Analysis Results.jpg
  15. greenshots

    greenshots Senior Member

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    Well, based on your methylation profile, I doubt she'd use any gene specific RNA with you. I guess it comes down to your nervous system, toxic triggers, and some other stuff she factors in. My friend has MCS and used general infl. And bowel infl. RNA and did well. It took some time, like 6 months, but she started reacting less to new herbs and stuff when the gut was better. I know she used other things in combination to reduce the body burden but these were sorta fundamental early on. I think people expect to see a magic bullet sorta response to the RNA and thats not really how that works. Sometimes it takes time for a broken body to get to a point where you can really fix it. This is where the RNA can make a difference, especially for those really sensitive people.

    As for me, I have a complete CBS c699t and NOS, ACE, all the BHMTs (complete) so I needed to really drop the load coming thru transulfuration and into the urea cycle. I used the CBS, Stress, and nerve calm RNA and its really helped! My doc has since weaned me off the CBS but I want to stay on the stress and ACE because I'm doing so well. But I'm also very sympathetic dominant so this factored into the picture.
    Dreambirdie likes this.
  16. PhoenixBurger

    PhoenixBurger Senior Member

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  17. Dreambirdie

    Dreambirdie work in progress

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    WOW! That is quite a list of SNPs you have. :aghhh: It's great that you have found a way to correct them and are feeling so much better. It gives me confidence that it is possible to wiggle one's way out of this mess of illness.

    I have a VERY sensitive nervous system, always did. And I was struck by lightning in 1979, which did not help that one bit! (I had come down with the sudden onset of CFS in 1977, so it really was a double whammy. I do not know how I managed to survive it all, but here I am!) Not long after the lightning, I became MCS--but didn't even know what that was until 1986, which is when I started to FINALLY find reading material about both the CFS and MCS (called Environmental Illness--EI-- back then).

    At this point, I think the MCS is at least as big of an issue, if not bigger, than the CFS. I am pretty much housebound because of my sensitivities to chemicals and can't be near anyone who uses toxic products in their laundry or on their body (which is most of the world). I have no food allergies anymore, though I do have some gut issues--particularly with bloating. I take L-glutamine for that, along with probiotics, and it helps.

    I am curious now about the general infl... Maybe that would be helpful. I will have to read about it.

    Thanks. :)
  18. greenshots

    greenshots Senior Member

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    actually, I only listed the ones I used RNA for. I also have the MTHFR A1298C and MTHFR 3 as well as a bunch of others. So yes, you can heal. I know what you mean cuz my doc says she has patients with all of mine plus the ACAT and full SHMT's so that always made me feel more hopeful when I started out.

    I would see Gestalts post on the nervous system because I think this is a huge part of it. If you treat people like we all have a standard recipe then some will get better but allot won't. I think this is where using different theories makes most sense instead of staying with only one doc or scientists views.

    I can't believe you were also struck by lightning! I think that pretty much trumps anything else I've heard of. I'm guessing you'd need the membrane stabilizers Yasko and sometimes, Rich talked about. Stuff like lecithin or phosphatidyls and policosanol. Thats a tough one but with the right nervous system stuff, it would probably make a big difference. I wish you well on this journey. Thats a very long time to be sick and I give you lots of credit for toughing it out!
  19. Dreambirdie

    Dreambirdie work in progress

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    Can you tell me where to find this?

    I do well with lecithin and I think it does help me. Phosphatidyls have been so-so. Never tried policosanol. Will have to look it up.

    It has been a rough ride for sure. Luckily I have a guitar, and a corner in my garage where I can paint my angst and fury. Without these I would have done myself in a long time ago. Art really has been my personal savior, and nature too. I have needed more than a bunch of supplements and herbs to survive this journey to hell and back.
    helen1 likes this.
  20. greenshots

    greenshots Senior Member

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    Here's Gestalts webpage. He seems to know allot about nervous system typing. I'd guess you to be on the parasympathetic side but you really have to consider how you were before you were ill. I met someone last month who'd seen Watson, the guy who actually wrote the book on this stuff and I guess he messed up because he diagnosed him based on what he was like when he was really sick. It wasn't until he saw my doc that he got the right plan and now he's doing much better. Its weird how you can miss something so fundamental.

    http://www.gestaltreality.com/2012/07/11/metabolic-diet-supplements-an-exploration/

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