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Similarities Between Pots, Me/cfids And Autism


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I thought I would start a new thread rather than hijack Rich's post about GABA

As others have noted, ME/CFIDS and POTS have a similar symptom list and are thought to be related. I thought I would point out that for several years now, ME/CFIDS and Autism are thought to be related.

In 2005, a prominent ME/CFIDS researcher made the connection between ME/CFIDS and autism. I have attached some links to those who like to do research and a couple of excerpts for ease of reading. Happy to discuss and throw ideas around.

Marti

Initial post from RichGotsPots thread about GABA:

Quote

Marti Said:

(ME/CFIDS population being much like the autistic population - I have gotten a lot of help from this type of doctor).

RAMA Said:

In what way? Increased sensitivity to light and sound are probably the only things I can see as similar. My wife works in Autism and we've talked about this at length.

Marti Said:

The methylation pathway defects are exactly the same, the glutathione deficiency. The difference in manifestation is thought to be the age of the brain at the time of insult/assault - the older the brain, then females are affected. A young brain, males are affected.

Dr. Amy Yasko from Maine and some DAN! doctors have been working in this area for some years. Rich Van Konynenberg, an ME/CFIDS researcher was the first to make the connection some years ago and is bridging the two populations.

I can provide some of his papers or Dr. Yasko's if you want more info....

I have two autistic children in my Sunday School class and have similar genetic defects/methylation defects (I have compared their genetic tests and bloodwork to my own. I have several autistic relatives but I have never had access to their bloodwork. My SS kids and I share the same doc and I have tried to help their parents understand the tests.

MTHFR C677T/A1298C is a major one.

CBS

COMT

MTR

MTTR

Here is a link of some of Rich's papers. The first one is from 2004 where he has made the jump from ME/CFIDS to Autism.

http://aboutmecfs.or...rtGSHIntro.aspx

Dr Yasko - she has allowed ME/CFIDS adults to participate in her forum for parents of autistic kids since the populations are similar. She is now accepting ME/CFIDS adults as "patients" - not full blown patients as her focus is the children. But she will review bloodwork and genetics.

http://www.dramyyasko.com/

Let me know if you want more info.

Marti

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An excerpt from a paper Rich Van Konynenberg wrote about how he connected the dots between ME/CFIDS and Autism:

http://aboutmecfs.org.violet.arvixe.com/Trt/TrtMethylTheory.aspx

A Simplified Treatment Approach Based on the Glutathione Depletion-Methylation Cycle Block Pathogenesis Hypothesis for Chronic Fatigue Syndrome (CFS) by Rich Van Konynenburg, Ph.D.

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Autism, CFS and the Methylation Cycle.

After I read the paper by S. Jill James and her coworkers (referred to above), I began to suspect that the genetic factors and biochemical mechanism they had found in autism are the same or similar to those important in CFS. A block earlier than glutathione in the sulfur metabolism, at the methylation cycle, could explain the persistent glutathione depletion in CFS. It began to dawn on me that other aspects of CFS that did not appear to be explained by glutathione depletion per se could be explained by a methylation cycle block.

It was difficult for me initially to believe that there was a connection between autism and CFS, given the profoundly different symptoms and different affected population groups (primarily boys in autism, compared to primarily adult women in CFS). However, I knew of others who had publicly suggested such a connection in the past. (Dr. Michael Goldberg in the U.S. and Prof. Malcolm Hooper in the UK), and this new study seemed to provide more detailed evidence of this connection at the genetic and biochemical levels.

I began to look into autism in more detail, and I attended the Long Beach conference of the Defeat Autism Now! (DAN!) project in October of 2005. The more I learned about autism, the more I became convinced that are dealing in CFS with many of the same issues at the genetic and biochemical levels. The book by Drs. Jon Pangborn and Sidney Baker entitled "Autism: Effective Biomedical Treatments" (Autism Research Institute, September, 2005) provides excellent explanations of the biochemistry of autism, and the parallels with CFS can be seen there.

I want to emphasize that I did not develop the Glutathione Depletion--Methylation Cycle Block Hypothesis out of thin air. The autism researchers had already provided a convincing basis for this model in that disorder. S. Jill James and coworkers did much of the clinical work that underlies it. Richard Deth and his coworkers had worked out much of the theory of the methylation cycle block and had applied it to autism. Professors James and Deth had been presenting talks on their work at autism conferences. The physicians in the DAN! project

(as well as Dr. Amy Yasko, though I had not yet learned of her work when I began to understand the importance of the methylation cycle block) had already been treating autism cases by measures intended to lift the methylation cycle block. What I did was to apply the results of their work to CFS, and to present a detailed biochemical and symptomological case to support the proposition that this model also applies to CFS.

What is the Essence of the Glutathione Depletion-Methylation Cycle Block Hypothesis for the Pathogenesis of CFS?

This hypothesis proposes first that in order to develop CFS, a person must have inherited genetic variations (also called SNPs or single-nucleotide polymorphisms) in a combination of certain genes that code for enzymes and other proteins associated with the methylation cycle and related pathways.

The hypothesis further proposes that the person must also be subjected to some combination of a variety of long-term physical, chemical, biological or psychological/emotional stressors that lowers glutathione levels to the point that a block occurs in the enzyme methionine synthase in the methylation cycle, in response to the oxidative stress that is inherent in glutathione depletion.

The formation of this block is aided by the presence of the inherited genetic polymorphisms. This lowering of glutathione levels also simultaneously removes the normal protection that glutathione provides to vitamin B12 and allows the accumulation in the body of toxins that can interfere with the utilization of vitamin B12, mercury perhaps being the dominant one.

This hypothesis further proposes that the result of the above is that the level of methylcobalamin is held too low to support the methionine synthase reaction, and it therefore becomes chronically blocked. This produces a vicious circle mechanism that causes CFS to become a chronic condition.

Finally, this hypothesis proposes that all the features of CFS can be shown to originate from this root cause. While I have not yet demonstrated this for every feature of CFS, the first paper cited in this article explains a large number of them in detail on this basis.

Previous treatments for CFS have dealt with downstream issues in the pathogenesis, but they have not completely addressed this root cause, and, in my opinion, that is we have not seen many completely cured CFS cases up to now. Note that when I refer to cured cases, I do not mean that the genetic predisposition has been removed, but that that the PWCs are healthy from the symptomatic point of view.

As I became more convinced of the parallels between autism and CFS, I began to point out this connection to some clinicians directly and to others via the internet, as well as to PWCs in internet groups, and I began encouraging them to consider the treatments that were being used by the Defeat Autism Now! project to treat autism, focusing on unblocking the methylation cycle. A small number of PWCs tried this approach, and while some initial benefits were observed from this, it did not seem to be an effective approach over the long term, at least in the way I was suggesting that it be applied.

Dr. Amy Yasko

I then learned of the work of Dr. Amy Yasko, N.D., Ph.D. in autism. I studied her materials, including the book written by her and Dr. Garry Gordon entitled "The Puzzle of Autism," joined her discussion forum at http://www.ch3nutrigenomics.com and eventually attended her teaching seminar in Boston in October of 2006.

After considering all of this, I concluded that it was likely that her treatment approach could help many PWCs, so I decided to emphasize it. An important feature of her work is her effort to tie the genetics of individuals to the biochemistry and to do tailored treatment based on genetics, again directed toward correcting the methylation cycle block, but also incorporating support for a variety of body systems and organs. I also learned that Dr. Yasko had had some experience in using her approach in cases of CFS as well as a variety of adult neurological disorders, but that she was currently focusing primarily on autism.

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I'm responding to the other thread where we got off on this subject. I find this fascinating and interesting the connections in families and the conections to glutamates. I've told my story about my ER visit and the connection to aspartame a glutamate in sugar free gum. Really scarry. My sisters kids all have ADHD and OCD type issues. My mom has OCD really bad. So, I do think there is a genetic component here. I just posted an article on magnesium and how the right kind of magnesium can help to modify this function. Interesting, yes about how some pieces start to come together all of a sudden like. Thanks for all the info.

Issie

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I plan on getting back on glutathione to see if that will help my POTS. I hope to do this by May. April will be my appt with Dr. Suleman in Dallas and then purchasing the glutathione and nebulizer (although I do have transdermal glutathione which I can try first).

I also find interesting that in the book "Primer on the Autonomic Nervous System", there is a chapter on tetrahydrobiopterin Deficiency (BH4) pg 201 by Keith Hyland.

Here is some of the info from Chapter 38:

"BH4 is the cofactor for tyrosine hydroxylase and tryptophan, the rate-limiting enzymes required for the synthesis of the catecholamines (dopamine, norepinephrine and epinephrine) and serotonin. ....

The various defects of BH4 metabolism that occur within the CNS lead to a deficiency of serotonin and the catecholamines.....hence, defects in BH4 leads to hyperphenylalaninemia......Changes are thought to occur as a result of insidious folate deficiency...."

I know that I have this deficiency as tested for methylation pathway defect (same test as for autistic children). The gene MTHFR A1298C is where I am heterozygous ( + -) which affects the removal of ammonia and use of BH4. So I should be supplementing with BH4. MTHFR C677T which deals with folate metabolism is also heterzygous (+ -) which means that my body has a difficult time converting folic acid to bio-available forms, first folinic acid then folate (5 methyltetrahydrofolate) causing a folate deficiency.

Also, I know from Organic Acids tests (urine, plasma)that my phenylalanines are elevated. I doubt that my levels qualify me for a diagnosis of hyperphenylalaninemia but perhaps this is contributing to my POTS.

After the glutathione trial, I plan on starting the treatment for BH4 deficiency and am hopeful that this will make my POTS more manageable.

Marti

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I've read that NAC is a better way to increase glutathione levels. Regular glutathione is sometimes not taken up very well in the body with regular supplementation. I have tried NAC but didn't find that it did a whole lot for me - in fact, just gave away about a half of bottle to someone. I know of someone who had severe colitis and his treatment to get over most all his symptoms was glutathione and colostrum. I know colostrum is very beneficial to some and was to me at one point. But, most of it is from a dairy source and some people who are hyper sensitve to dairy MIGHT have issues. Although, studies say that very few react to it in a negative way - even with dairy sensitivities.

Issie

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I've read that NAC is a better way to increase glutathione levels. Regular glutathione is sometimes not taken up very well in the body with regular supplementation. I have tried NAC but didn't find that it did a whole lot for me - in fact, just gave away about a half of bottle to someone. I know of someone who had severe colitis and his treatment to get over most all his symptoms was glutathione and colostrum. I know colostrum is very beneficial to some and was to me at one point. But, most of it is from a dairy source and some people who are hyper sensitve to dairy MIGHT have issues. Although, studies say that very few react to it in a negative way - even with dairy sensitivities.

Issie

Hi Issie,

Actually, it depends on your genetics. NAC is useful only if your methylation pathway is not working correctly to make you low in cysteine. That is not as common as the methylation not working and having excess cysteine (think cardiovascular health).

I personally cannot take NAC without feeling worse which means that my methylation pathway must be broken in that cysteine is excess.

Oral glutathione is not effective. It does not get absorbed by the body. In 1999, I was a patient of Dr. Patricia Salvato, and she had me inject glutathione daily. After a couple of weeks of detox, I started improving.

The current preferred method of getting gutathione is by nebulizing. The next, less effective method is the transdermal cream used by autistic kids made by Kirkmans'. I have been unable to get the injectable glutathione anymore. Not sure if the local compounding pharmacies in Texas can't get it or if it is not available anywhere. I have wanted to get back on the injections but have not been able to. Hopefully, I can start nebulizing in May.

I have always wanted to try colostrum as many with ME/CFIDS have had improvements on it. I even had a herd of goats to get my own but I was never well enough to milk them and they were a little too active for me to catch!

Marti

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I have a nine year old son with diagnosed autism since 3 yrs and OCD tendancies.....I myself have been diagnosed with POTS/OI, Dysautonomia, CFS and suspected MCAD..(onset in the last 4 years)...although my son and I share many allergic characteristics I have yet to draw any similarities between our actual symptoms outside of that subset. I have also tried the whole list of medications usually used for autism treatment and they all had the opposite effect on my system. I think it has to be kept in mind that even when it comes to the Autism spectrum, like our illness, no one diagnosis or symptom set are the same.....every brain is so unique...thats why treatment is such a hit and miss. and why finding a cure has been so difficult....no one thing stands out...yes they have linked some genetic markers but this is still in its infancy and may only act as detection not necessarily a cure....just my insight

Also forgot to add; we have tried every special diet etc for our son with no visible alleviation of his symptoms and I have had my bloodwork compared to his many times with no similarities.....granted they may not be the right tests.

Bren

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I have a nine year old son with diagnosed autism since 3 yrs and OCD tendancies.....I myself have been diagnosed with POTS/OI, Dysautonomia, CFS and suspected MCAD..(onset in the last 4 years)...although my son and I share many allergic characteristics I have yet to draw any similarities between our actual symptoms outside of that subset. I have also tried the whole list of medications usually used for autism treatment and they all had the opposite effect on my system. I think it has to be kept in mind that even when it comes to the Autism spectrum, like our illness, no one diagnosis or symptom set are the same.....every brain is so unique...thats why treatment is such a hit and miss. and why finding a cure has been so difficult....no one thing stands out...yes they have linked some genetic markers but this is still in its infancy and may only act as detection not necessarily a cure....just my insight

Also forgot to add; we have tried every special diet etc for our son with no visible alleviation of his symptoms and I have had my bloodwork compared to his many times with no similarities.....granted they may not be the right tests.

Bren

Hi Bren,

You are so right! Even within the same population - there are many differences. Within the autistic population, each child is different from each other. Genetics, environmental assaults, biochemistry all play a part in making them better. I have noticed the same within the ME/CFIDS population. There are some subsets but even then, there are still differences.

I like to have tests that show the deficiency or genetic defect before starting supplements now - in the past, I have spent thousands on trying different things. Now, I am waiting to save money some additional genetic testing to give me the whole picture. I have gotten more testing for my son but he is in college and needs more urgent help.

Yes, like you and your son, my son and I share the allergy thing. That is common. Other than that, my son (who is not autistic nor does he have ME/CFIDS or POTS but shows predisposition to my illness) don't share much in the way of traits. We do obviously share genetics. Supplements that help me do not affect him and he can take other supplements that I cannot.

In addition to our genes being a little different, I have had some environmental assaults that he has not. I have high levels of mercury, I had pesticide exposure as a child that kept me hospitalized for a short while when I was young.

The testing that my son has had done are MTHFR C677T and A1298C through Labcorp (this is one of the Yasko tests). I have never had the funds for Dr. Yasko's full genetic test but I did purchase the 23andme genetic test which came back recently and it tests for 26 out of 32 Yasko tests. When he comes home in May from school, we are going to sit down and change his protocol.

He also had the Genova Diagnostics ONE test which shows the organic acids, gut dysbiosis, etc. Then he had a specialty test for methylation and glutathione (I think this was through Doctors Data). Anyway, between the 4 tests, we have a good starting point to make him better which has happened to an extent. He has sleep apnea and staying up late at school - he could be better.

Good points,

Marti

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An easy to understand methylation diagram:

http://www.dramyyasko.com/methylation-diagram/

A slightly harder but more informative diagram:

http://www.dramyyasko.com/diagrams-listing/

The first part is the green and pink circle that look like gears. This is the methylation cycle which is part of the methylation pathway.

the second part - a much more complex diagram - is the 5 cycles of the methylation pathway.

Issie: as you can see the right hand circle - the methylation cycle leads to homocysteine at the 6:00 position. This leads to the formation of glutathione.

I know that Dr. Yasko tests for the ACE gene (I don't think the ACE gene is part of 23andme data). Anyway, going past glutathione on the diagram, you get to Angiotensin I -> Angiotensin II which I have seen some of you discuss (but which I do not understand it's relation to POTS). I think I have seen posts about tests for antibodies to Angiotensin II? I haven't started looking at this but thought I would point it out for those of you who do research and can see if there is something to this connection.

Marti

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I found some studies in connection to ACE 2 antibodies in people with connective tissue disorders (mostly scleraderma - but I wonder if maybe EDS could also be connected) and the suggestions was to not use an ARB but, an ACE because it wouldn't increase potassium. If you look at the description of the Dr.'s test of each thing - you can see why this suggestion - when there are antibodies and the ACE function doesn't work properly, there is a build-up of potassium. Interesting info and I want to study it more.

As for angiotensin 2 there is a paradox type situation that happens in some with POTS and the levels are too high - even though rennin and aldosterone levels can be too low - there is some sort of connection with this and POTS and those with higher levels of angiotensin 2 and low NO are benefiting from ARB's. Because, this increase NO and also increases potassium.

I didn't find the NAC to make me feel any better - probably worse. So, interesting to know why. It was supposed to give energy and all I noticed was I felt sick. :) Interesting piece of the puzzle. I had checked into glutathione IV when they thought I had Parkinson's because that is an alternative treatment for Parkinson's and is quite effective for some. I was never able to get it - it was quit expensive. So, never pursued it past the initial research and attempt to get it.

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The brand of colosturm that I found to be the most effective and organic and the way it's processed to preserve the benefit of it is Symbiotics. The one I used was the Immune one which also has beta glucans in it. But, they have one that is just the plain colostrum. I would have loved the fresh stuff and bet it would have been even better. There is a goat colostrum by Garden of Life - but, I never used that one and it's more expensive.

Issie

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This is interesting...I have a nephew with Aspergers, a niece with OCD, and I believe I was OCD, along with my brother, when they didn't diagnosis this way back when!! My brother and I also have MVP. I think I would have been considered hyperactive, too! Maybe attention deficit disorder, too (ADHD), which my nephew also has, btw...lots of nutrients in that colostrum, Issie...that is the first milk a baby gets from their mother, before the actual breast milk. Love all the info on this site :)

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I had checked into glutathione IV when they thought I had Parkinson's because that is an alternative treatment for Parkinson's and is quite effective for some. I was never able to get it - it was quit expensive. So, never pursued it past the initial research and attempt to get it.

I forgot about glutathione IV. I never did that. Seems like it would be hard for the body to handle.

The injections were IM which dissipate slowly and that caused severe detox for the first couple of weeks.

The nebulizing method is the most cost effective. The nebulizer will run about $45 and a special mask piece that closes when you are not inhaling is about $10. I can't remember how much the glutathione capsules are (a special kind that are buffered so the lungs don't get harmed - can't just use any GSH capsule.) I am thinking about $40 without shipping from specialty pharmacy.

But after the initial outlay, you can control the amount that you are nebulizing, the mask does not let you waste what you are not inhaling so one bottle of capsules could last you a year!

The cream is not as effective and it costs $45 for a small bottle. Shipping adds to the cost but I can get it locally.

Marti

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Hi Issie,

Yes, I have the information but let me make sure that this is the latest and greatest info. It has been about a year and a half since I created a placeholder for the information. I will touch base with the CFS_Yasko group to make sure there aren't any updates.

I should have it by tomorrow.

Marti

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I can tell you that through careful examination of these conditions based on peer reviewed science rather than speculative research you will clearly see that autism and pots/ CFS share very few similarities, different etiological mechanisms and probably most importantly totally different presentations. Please read my response in the GABA thread for more detail.

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I think, that the way this thread has helped me, is not so much in a connection to autism or OCD - but, in realizing the pathways that glutamates work and in how the body functions in this regard. Since, I know I have problems with glutamates - understanding why - possibly is what is of benefit to me. Makes me more determined to stay away from glutamates. Glutithione is very good as a digestive aid and to help the function of metablolism. My friend that just had a good portion of his colon removed due to crohns - found glutithione and colstrum to heal him and keep his crohns at bay - which is an auto-immune issue. Since I believe a good bit of my POTS is auto-immune related - I'm interested in whatever I can use to counter the effects of that. I've seen in work in my friend. He's living a fairly normal life and hasn't had another serious attack - only small ones and that's amazing with how awful his illness is.

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I have to say, i've read every piece of this thread and all the links to the articles and to Yasko's site. Im SO interested in this! Love to learn anything that can be beneficial, even in an odd way. Does it not point bascially to a clean diet? of course the supplements we wouldn't know if we didn't have yasko's testing done, right? very interesting indeed..... and RKT im going to hit that other thread now.... and see what i can dig myself into :)

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Imho, a clean diet, like dr wahls, can help with most chronic illnesses. The only reason we eat the foods we do is because strong lobbyist keep our govt supporting these.

imho, It's the medical profession insisting on different labels, aka diagnosises, for symptoms that makes it confusing. I suspect the drug companies are behind the confusion.

Imho, Eliminating toxins, treating nutritional deficiencies and treating for parasites and bad bacteria are just as important tho. A healthy diet helps our bodies fight these tho.

Tc ... D

Ps. Fwiw, From what I've seen many parents of autistic kids missed the boat by feeding their kids "gf" junk

foods instead of healthy foods. Most of these have trace amounts of gluten if not more. I cringe everytime I read that a DAN practitioner is recomending these.

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Ps. Rich v's info is JUST a theory. He's the first to point this out. I'm not sure if it has merit myself since our bodies need to detox in many other ways. It seems coming up with theories or protocals appeals to those in the medical

field. As an ex computer programmer I have trouble relating to unproven theories. If my "theory"

didn't work, I moved on until I found one that did.

Tc .. D

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Adding this disclaimer here as well

1. I am not stating this as fact! Hopefully, everyone knows that I am thinking out loud, trying to tie pieces of the puzzle together. I hope that I did not make any statements on any thread that is put across as fact.

2. I willingly admit that I have an incomplete understanding of physiological mechanisms - that's why I'm here.

Marti

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I have to say, i've read every piece of this thread and all the links to the articles and to Yasko's site. Im SO interested in this! Love to learn anything that can be beneficial, even in an odd way. Does it not point bascially to a clean diet? of course the supplements we wouldn't know if we didn't have yasko's testing done, right? very interesting indeed..... and RKT im going to hit that other thread now.... and see what i can dig myself into :)

Hi Hilbiligrl,

I hope that the connection (if there is a connection and whatever the connection may be) would be beneficial. The ME/CFIDS population has gotten the most help initially from HIV/AIDS research. Now, many are being helped by autism research. Finding where the disorders are the same and where they are different helps to shed light on what we can do to resolve some symptoms or just feel a little better.

I have never been able to afford Yasko's testing ($495) but I bought 23andme genetic test for my son ($99 plus $9/month for 12 months). I have read that they sometimes put this kit on sale for just the $9 for 12 months. I have gotten my son's results back and they tested for 26 out of 32 Yasko genes. Unfortunately the ACE deletion is not tested which I think could be illuminating for POTS. I am waiting for the sale and then I will order the kit for myself and my mom.

But, honestly, I have gotten more help for my conditions (ME/CFIDS and POTS) by just following the dietary and supplement restrictions. My head is clearer so I can do more research (and pay my bills and other mundane chores). Not much in the way of energy though.

I hope there is something in this information that is helpful to you.

Marti

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Imho, a clean diet, like dr wahls, can help with most chronic illnesses. The only reason we eat the foods we do is because strong lobbyist keep our govt supporting these.

imho, It's the medical profession insisting on different labels, aka diagnosises, for symptoms that makes it confusing. I suspect the drug companies are behind the confusion.

Imho, Eliminating toxins, treating nutritional deficiencies and treating for parasites and bad bacteria are just as important tho. A healthy diet helps our bodies fight these tho.

Tc ... D

Ps. Fwiw, From what I've seen many parents of autistic kids missed the boat by feeding their kids "gf" junk

foods instead of healthy foods. Most of these have trace amounts of gluten if not more. I cringe everytime I read that a DAN practitioner is recomending these.

Hi Dizzy,

I agree with the GF junk. These products are full of chemicals. I react to some of them as well - actually some of the trigger gastro issues that is worse than when I eat wheat!

I noticed in your signature that you follow a paleo diet. I am finding this is best for me as well.

Marti

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Ok, got it .. Thanks.

Fwiw, I'm seeing too many benefits from diet to think any supplements could do what healthy foods do.

Dr wahls explains this in her ted video. I need to change my sig to say wahls diet. I was eating too much meat and mistakedly took romain lettuce as equivalent to dark leafy greens.

I'm trying not to get too excited, but my energy has improved via her diet and eating more fruit.

Tc .. D

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