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Patent on Dx of dysautonomia granted????


Guest Finrussak
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Guest Finrussak

I was helping my son research vector borne illnesses for a med school research proposal and linked to a new ( for me) site" Science Daily" at sciencedaily.com. and I happened to search term "dysautonomia" as I often do just "to see". Lo and behold the following pops up!!! any thoughts???Is this wild or what?!?!

QUOTE:

Patent Grant Detail

Method for diagnosing and treating dysautonomia and other dysautonomic conditions

Patent Number: 06660831

Inventor: Fallon, Joan M.

Assignee:

Issue Date: 12/09/2003

Patent Publication Date: 12/09/2003

Publishing Authority: US

Abstract

Methods for aiding in the diagnosis of dysautonomic disorders and dysautonomic conditions and methods for treating individuals diagnosed as having a dysautonomic disorder or a dysautonomic condition. In one aspect, a diagnosis method comprising analyzing a stool sample of an individual for the presence of a biological marker wherein the quantity of the biological marker is an indication of whether the invidual has, or can develop, a dysuatonic disorder or dysautonomic condition, as well as a therapuetic method for treating a dysautonomic disorder or dysautonomic condition by administration of, e.g., secretin, neuropeptides, peptides and/or digestive enzymes.

http://patents.globalspec.com/partnerConte...ry=dysautonomia

The description of patent apparently can be purchased from "Global-Spec"

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Guest Finrussak

Ok I checked the 2 sites-Global Spec and Micro Patents...all legit then I got curious and went to the OFFICIAL U.S> Patent office site....Did a search via inventor name...what a confusing site to learn!!!

and there IS a legit patent filed and accepted, by Joan M Fallon as well as many others by her....she at the time...was affiliated with a New York med school, was/is from Yonkers NY...and you can get details below. Perhaps someone with far more experience than I have should try to write or email her and get the straight info...I know in my own fields of science education and embryology there are many political reasons for burying valid research finds....as well as legitimate ones...Id hate to think that this woman's ideas could have led to better dx and/or treatments for dysautonomias????

http://patft.uspto.gov/netacgi/nph-Parser?...N/Fallon-Joan-M

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Seems a little strange to me..

It starts off talking mostly about familial dysautonomia, and then goes into Parkinson's, general autonomic dysfunction, and finally OI? Yes they all relate to the ANS, but they're very different... Excuse me if I'm skeptical that some enzymes will make our ANSs work (especially on those who have genetic forms). (and diagnose AND treat???)

Hmmmmm.. :)

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I found this link as well http://www.emediawire.com/releases/2003/12/emw93563.htm

Also, she has sought patents for other disorders http://www.prnewswire.com/cgi-bin/stories....02035754&EDATE=

It sounds like this was primarily targeted at Familial Dysautonomia. Maybe she will come up with some answers at some point.

To me, it sounds like she is a researcher trying her best to find some "breakthrough" in various disorders and that her "love" is to work trying various enzymes and things of that nature. All of those are worthy goals and ambitions.

We just have to keep waiting for some "backed up" research I guess.

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Guest Finrussak

I agree with Poohbear...and as for the actual body content of her work I know nothing about it and therefore havent formulated any opinion which is why I asked those out there to comment. Im wondering if anyone knows if the specialists (Grubb, Low, Robertson et al) have even heard of this and what they think???

as far as digestion and the way someone processes proteins, etc....what I do know is that enzyme deficiencies and enzyme malfunctions can wreak havoc all over the body with far reaching consequences, due to the build up of byproducts, incompletely digested molecules, and inflammatory responses plus many other reasons. Plus biochemistry of the body is all interlinked with many processes affected many others. While it isnt as far fetched as it sounds; Im also cautious as genetic isssues are often linked, not in a biological "vacuum", so what may help Familial Dysautonomics may not benefit others.

I am mostly intrigued by the diagnostics, more than the treatments...finding causes is step one.

Anyone have the stamina to look further into this???

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  • 3 years later...

I just stumbled on this research while looking reading about folic acid and how it helps acetylcholine. I think it's fascinating. I'm happy to see this discussed ehre already. Yo can read the whole thing here: http://www.freepatentsonline.com/6660831.html

I think the point of talking about the other disease was to point out that ALL dysautonomias are caused by a similiar mechanism and therefore, if it can help the dysautonomia in one type of disease, it will probably help in others too. I would be excited to try this on myself if I could access the resources. Seems like injecting Secretin is harmless...what if this could help?

I'm not surprised there isn't a lot of info. backing this up! Dysautonomias are so unknown!

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My 2 cents here.

Injecting Secretin may not be harmless. I've worked in Autism for more than 20 years & I would suggest reading Paul Offit's book Autism's False Prophets: Bad Science, Risky Medicine and the Search for a Cure if you'd like a good coverage of some of the "hyped" potential treatments for autism, including pretty good coverage of the experiments using Secretin to try to impact autism symptoms. Dr. Offit is one of the leading researchers in vaccines...and vaccine safety. He gives a very informed and interesting history of all sorts of medically based treatments that have no evidence to support their use --but due to greed, end up out there b/c folks are desperate for help. Like our group of disorders, autism has subtypes, and likely multiple pathways to the cause the symptoms of disorders.

Also, I find it doubtful that all types of dysautonomias would respond similarly because of the fact that we arlready know that there are multiple etiologies/mechanisms. I think that's too broad a generalization to make. On the DINET site we have at least 10 major areas of mechanisms, not including the sub categories, listed for just POTS... and there may be additional ones for other types of dysautonomia.

And, familial dysautonomia may even been different in many ways which we are yet to understand--one of my friends has 3 children with FD and their symptoms and major issues for them do differ in a number of ways from most folks I know here--for example, all three of her kids have experienced autonomic crisis that without immediate medical treatment, can be fatal events. For most of us here, our symptoms are life changing but far from fatal (I'm giving the caveat that I know, for example, there are a few who may have fatal events without proper and rapid medical attention--but these folks are in the minority here).

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>Like our group of disorders, autism has subtypes, and likely multiple pathways to the cause the symptoms of disorders.

More in common than you think. Some of the liver and brain metabolic pathway dysregulation seen in Autism appears to be present in POTS.

Agreed on the idiocy of applying secretin - it's using a hammer to flatten a pin.

Two thumbs up for Offit, who has been demonized, threatened and humiliated by overzealous parents who firmly believe that vaccines are the cause of their offsprings autism.

Nope. The cause is much more interesting, having to do with piss poor methylation status in Mommy and Daddy, especially when they had their fun teen years of alcohol, drug use, smoking and abysmal dietary and sleep habits.

Those are the years when eggies and spermies are environmentally mapped, that is, the health status of the adult is translated into fine tuning of gene silencing, gene regulation and expression. That's epigenetics.

It's a pattern that is thought to be 'heritable' for a span of a few generations, before the changes are either 'fixed' or 'lost' due to changing health status within families.

Daddy especially is culpable - after all, when he produces his little spermies, during maturation, they undergo methylation stripping (de-silencing) and then resilencing, according to his genetics but also his health status. He produces his sex cells over the course of his life. Older daddies who have been bad actors (made poor health style choices for many years) are a prime cause of heritable disorders in their children.

Not that they would admit it.

Mommy is also culpable, for maternal methylation patterns are often dominant in key metabolic gene families (eg.., entire chromosomal regions) and in innate immune response patterns. Mommy, however, has one shot for programming her eggs, when she is still a teenager. Mommy further 'edits' neonatal development during pregnancy, reinforcing gene expression changes by her gestational health status.

How many teens do you know that are careful with their diet, sleep habits, get enough exercise and fresh air?

Do you see where I am going with this?

While parental health plays a role in methylation and antioxidant pathology, so does offpsring early nutrition, and also environmental exposure, sleep hygiene, and parental stress levels.

The fact is this: environmental exposure to mercury (air and soil pollution) and arsenic (drinking water and food) is much, much more likely to interfere with building precious methylation pool stores, with critical intracellular antioxidant formation, and with oxidiative stress tolerance than is the preservative in a booster vaccine series. The chemistry is compelling and quite interesting.

Why children?

Children, especially in the critical period, age 0-6 when 85% of brain development occurs, have many times the metabolic free radical production level of adults, because of the significant developmental growth rate, and in the important staged and methylation driven turning on and off of genes.

Both the methylation and antioxidant pool get sucked down to critical levels, if (a) parents are lax with their kids diets and lifestyle. (:( kids and parents live in polluted environments, and ? kids have less than stellar parental social conditioning.

Thats the other really interesting bit about epigenetics. While parental gene influence can predispose offspring to faulty genes, gene regulation and gene products, there is considerable 'fine tuning' that occurs during development, in an amazing suite of effector molecules, that bind to 'noncoding regions' on genes and operate up- and down-stream of the target gene position in the chromosome. These effects also affect post translational modification: the alteration of gene products by additional chemistry steps that can change structure and function.

The segue to ANS?

Many of the same base mechanisms, epigenetics, lifestyle factors, health/fitness status, chronic stress loading and environmental exposures during progressive life stages are operators in the full blown expression of weakly heritable symptoms.

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My 2 cents here.

Also, I find it doubtful that all types of dysautonomias would respond similarly because of the fact that we arlready know that there are multiple etiologies/mechanisms. I think that's too broad a generalization to make. On the DINET site we have at least 10 major areas of mechanisms, not including the sub categories, listed for just POTS... and there may be additional ones for other types of dysautonomia.

I'm not yet very familiar with navigating the site. Can you point me to a discussion of all the mechanisms. I'm very interested in learning more about them.

I spent the last hour reading about secretin and Its use in Autism. It doesn't "cure" autism by it may or may not help the autonomic component. It's sad to see a potential therapeutic tool for "whatever", get such bad press because the Autism crowd beat it to death prematurely. I'm interested in its effectiveness for Dysautonomia. There are no studies on this now, but that's how it all starts. Just read up on how it was concluded that H. pylori caused stomach ulcers. No one would believe this scientist until he finally infected himself with it and proved the relationship.

This is what the Wiki on secretin says:

Secretin is a hormone that controls the secretions into the duodenum, and also separately, water homeostasis throughout the body.....It has recently been discovered to play a role in osmoregulation in the hypothalamus, pituitary, and kidney.

Secretin modulates water and electrolyte transport in pancreatic duct cells,[20] liver cholangiocytes,[21] and epididymis epithelial cells.[22] It has also been recently been found to play a role in the vasopressin-independent regulation of renal water reabsorption.[4]

Secretin is found in the hypothalamus and neurohypophysis, During increased osmoalality it is released from the posterior pituitary. In the hypothalamus, it activates vasopressin release.[5]

It has been suggested that abnormalities in such secretin release could explain the abnormalities underlying type D Syndrome of inappropriate antidiuretic hormone hypersecretion (SIADH).[5] In these individuals, vasopressin release and response are normal, although abnormal renal expression, translocation of aquaporin 2, or both are found.[5] It has been suggested that "Secretin as a neurosecretory hormone from the posterior pituitary, therefore, could be the long-sought vasopressin independent mechanism to solve the riddle that has puzzled clinicians and physiologists for decades.

So this might help regulate water balance in my body. One of my main problems IS water and electrolyte balance. In addition to being hypotensive, I am always dehydrated and hyponatrenic, hypercalcemic and hypomagnesemic. No matter how much salt I consume, my sodium levels are always low and I'm always thirsty. Also, my eyes, throat, nose all feel dry and irritated. So, at least in my case, Secretin deserves a closer look.

I write in a few other forums and one thing I've noticed is that people are too eagered to shoot an idea down simply because it doesn't fit their concept and understanding of the disease. I don't care what I have to do, as long as it improves the outcome of my disease.

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The cause is much more interesting, having to do with piss poor methylation status in Mommy and Daddy, especially when they had their fun teen years of alcohol, drug use, smoking and abysmal dietary and sleep habits.

What exactly does your post about Autism mean? Is it the parents fault genetically for children who develope Autism? Does that mean ALL parents who have children with Autism are at fault, are there other causes?

What research backs up this theory? I'm really interested in this and would love to have some links to this being the cause.

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Intuit, I believe what you're talking about regarding heritability is called "epigenetics." I've done some reading in this area regarding autism, b/c it's probably the best explanatory fit for the explosion in the incidence of the disorder (in addition to better diagnostics). I understand what you've conceptualized above regarding of how environment and genetics interact and then can have effects lasting several generations.

For those reading this who aren't familiar, there are geneticly based changes that can occur due to various environmental pressures, for example famine, which can affect later generations in ways like changing how we process insulin (diabetes or related issues). Genes are really more synergistic than doctors once believed.

Re: autism and causality: I'd be more inclined to say that rather than parental use of substances, the epigentic sensitive exposure is probably inadvertent environmental things like air quality, food additives, exposure to all sorts of chemicals like antibiotics in our food or as medication.

POTS and mechanisms are listed on the main DINET site, not the forum, and can be found here:

http://www.dinet.org/what_are_the_mechanisms_of_POTS.htm

you can other information under the side bar links on the left of the page.

Other resources can be found under the pinned topic on the forum that's starts with "help yourself"

Nina

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Re: autism and causality
Nina, have you seen a link between dysautonomia and Autism? I would like to see if there's a link between the two and if it is indeed genetic. I'm going to research some more and would appreciate if you have the time any of the info you have - your description peaks my interest; if you feel up to it :)

It's interesting to me that 1 of my 4 children have Autism, my oldest 2 are from my first marriage and my youngest 2 are from my current marriage. He's my 3rd child and the others showed no signs; we had our youngest daughter tested as well after his diagnosis.

I had traits of ASD growing up - photographic memory was one of them; wow how I miss it lol; now I'm lucky to remember yesterday. It will be very interesting to see if my youngest son; who's 9 now will develop some of the same ANS problems I have.

I know it wasn't anything I did as a teen, I was an [angel] :) lol or nerd; unsociable; whatever you want to call it. School; work; sports and reading was more important than going out with friends. I never had a drink until my 25th birthday, darn I sound like a real prude lol I was an athlete and ran long distance track, played volleyball, basketball and some other sports...for a girl in the 80's that was 'geeky' :)

Genetics has interested me since he was diagnosed at about 17 mths, because I had virtually every test done through USF when I became pregnant and developed Placenta Previa. The specialist at All Children's Hospital said they found nothing genetically wrong with the tests from USF, but pinpointed the severe blood loss during my pregnancy with him as the cause, but I've wondered about that all these years.

Or I can just blame my husband; he was the wild child; bad boy teen lmao! ooo he's so gonna get it when he gets home

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Seriously, in the last year, I have wondered if there is such a thing as adult-onset autism! For instance, I have three kids, two which are in their 20s and live on their own. If they come home for a holiday, and we have all 5 of us in the house for hours, and everyone is talking back and forth, I reach a point where I feel like going to sit quietly in a room by myself(I don't). And this is from a person who, before POTS, would have my family AND my husband's family over at the same time for a holiday meal! That was me then, and this is me now--totally opposite. I have really been able to understand the "overload" autistic children might be going through.

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Sue, maybe you're like me on the Autism Spectrum disorder? The sensory overload issue may be able to be helped with ssri's, I think that's why Lexapro helps me.

My son goes through this and has meltdowns; then is fine; but has no other behavior problems. Like Halloween - he was fine, rang the doorbell said Trick or Treat and thank you when they handed out candy; but all the excitement and costumes and noise just threw him over the edge about an hour after we got home. Since it was 830pm when we got home, the kids got 1 piece of candy, so it wasn't a sugar rush and I just let him cry it out and then cleaned his face and he went to sleep.

The more I learn, the more I want to know and different things just jump out at me like genetics - my mother's family have called "insane' for lack of a better word, so maybe it's on her side of the family, because it definitely seems to run in the family just different manifestations. Like me, I never had any of the emotional or behavioral problems my brothers did [even as adults], but I had social problems and liked being alone alot.

I know I def had add/adhd type symptoms and growing up that lasted into adulthood.

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Re: autism and causality
Nina, have you seen a link between dysautonomia and Autism? I would like to see if there's a link between the two and if it is indeed genetic. I'm going to research some more and would appreciate if you have the time any of the info you have - your description peaks my interest; if you feel up to it :)

It's interesting to me that 1 of my 4 children have Autism, my oldest 2 are from my first marriage and my youngest 2 are from my current marriage. He's my 3rd child and the others showed no signs; we had our youngest daughter tested as well after his diagnosis.

I had traits of ASD growing up - photographic memory was one of them; wow how I miss it lol; now I'm lucky to remember yesterday. It will be very interesting to see if my youngest son; who's 9 now will develop some of the same ANS problems I have.

I know it wasn't anything I did as a teen, I was an [angel] :) lol or nerd; unsociable; whatever you want to call it. School; work; sports and reading was more important than going out with friends. I never had a drink until my 25th birthday, darn I sound like a real prude lol I was an athlete and ran long distance track, played volleyball, basketball and some other sports...for a girl in the 80's that was 'geeky' :)

Genetics has interested me since he was diagnosed at about 17 mths, because I had virtually every test done through USF when I became pregnant and developed Placenta Previa. The specialist at All Children's Hospital said they found nothing genetically wrong with the tests from USF, but pinpointed the severe blood loss during my pregnancy with him as the cause, but I've wondered about that all these years.

Or I can just blame my husband; he was the wild child; bad boy teen lmao! ooo he's so gonna get it when he gets home

This may be totally unrelated to your research to connect autism and dysautonomia, BUT I (and others here) have been DXed with mast cell activation disorder (MCAD) as a cause for our autonomic problems. There has been much recent research connecting MCAD/mastocytosis with autism. Let me know if you want links to research articles.

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Searching for ways out of the autism maze: genetic, epigenetic and environmental clues

Antonio M. Persicoa, b, E-mail The Corresponding Author and Thomas Bourgeronc, d

Epigenetics of autism spectrum disorders

N. Carolyn Schanen

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

SG Gregory, JJ Connelly, AJ Towers, J

Evolving role of MeCP2 in Rett syndrome and autism

Janine M LaSalle‌† & Dag H Yasui‌

Mechanistic biomarkers for autism treatment

Robert L. Hendrena, Kiah Bertoglioa, PaulAshwoodb, and Frank Sharpc

I find this one particularly interesting b/c they've already figured out a way to restore a mouse with Rett syndrome (neurodegenerative disorder in children, looks similar to Parkinson's, can involve respiratory failure--MeCP2 is the known genetic area for Rett and some types of autism) to a normal state:

REVERSAL OF SYMPTOMS IN AN AUTISM SPECTRUM DISORDERRett Syndrome is reversed in genetic mouse model, Monica Coenraads

and super interesting is the video showing the mouse with the Rett gene turned on, and then the SAME mouse with the gene turned off. It's really a hopeful finding not just for Rett & autism but for those with autonomic problems.

As for any relationship between Autism and dysautonomia--I don't know enough to say, but here's a google scholar search of "autism & dysautonomia"

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Let me know if you want links to research articles
I would really appreciate them :) thanks a bunch

This is very exciting research this links mast cells to autism. (Misbehaving mast cells have also been implicated in dysautonomia.) It points the way towards a new treatment approach that's been very effective:

http://www.wickedlocal.com/brookline/news/...sm-breakthrough

http://www.modavox.com/VoiceAmerica/vepisode.aspx?aid=37044

http://www.autismone.org/content/mast-cell...heoharides-md-p

http://autism.healingthresholds.com/resear...-targets-for-au

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I've always wondered about MCAD, which underlies some of your dys. I knew it wasn't a disease in itself, but a reaction disorder. So, reading the first article that you posted I saw that the researcher is looking into the connection between MCAD and autism. OK. He also states that autism is thought to occur because of "some food, stress-related or viral pathogen". OK. MCAD is thought to originate from a pathogen. We have been talking alot lately about celiac disease. In celiac disease, a "pathogen" is introduced into the gi system and the gi system releases, among other things, cytokines. In the proposed theory in the article on autism, cytokines are released when a "pathogen" is introduced. So, I can see a connection here from celiac/gluten intolerance, MCAD, and autism. Any thoughts?

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I've always wondered about MCAD, which underlies some of your dys. I knew it wasn't a disease in itself, but a reaction disorder. So, reading the first article that you posted I saw that the researcher is looking into the connection between MCAD and autism. OK. He also states that autism is thought to occur because of "some food, stress-related or viral pathogen". OK. MCAD is thought to originate from a pathogen. We have been talking alot lately about celiac disease. In celiac disease, a "pathogen" is introduced into the gi system and the gi system releases, among other things, cytokines. In the proposed theory in the article on autism, cytokines are released when a "pathogen" is introduced. So, I can see a connection here from celiac/gluten intolerance, MCAD, and autism. Any thoughts?

Yes, I do see a connection. In celiac disease, wheat is the pathogen that causes the body to react. In MCAD, it can be a true allergen (like wheat or dairy) or a non-allergen like heat, cold, stress, or even a virus that can cause mast cells to over-react. And, this autism researcher seems to hypothesize that the same sort of trigger- food, stress, or a virus can set-off autism. In all three conditions, the triggers cause a release of cytokines.

It has long been suggested that dysautonomia patients typically lack a normal blood volume. If the patient wasn't symptomatic from birth, one may ask- WHERE does that blood go? In allergic or non-allergic reactions (seen in MCAD/celiac/and now autism) mast cells seem to be over-reactive- setting off the cytokines response that ultimately seems to cause the leaking of blood vessels and subsequent symptoms. In autism the more permeable blood vessels seem to also allow neurotoxins into the brain causing autism symptoms.

I'm a little confused by your description of MCAD as a "reaction disorder." I'm not sure what that means. here is a description from The Mastocytosis Society:

"People who have been told they have Mast Cell Activation Syndrome or Disorder (MCAS/MCAD) may have a normal, or nearly normal, number of mast cells. However, their mast cells "behave badly" - that is, they are easily triggered to release their contents, which results in many of the same symptoms that people with Mastocytosis experience. The danger of anaphylaxis and shock is present with MCAD/MCAS, but unlike Mastocytosis, this syndrome may not have the potential to progress to a more aggressive or malignant stage. Nevertheless, people with either Mastocytosis and MCAS/MCAD can be either very stable or extraordinarily ill on a day-to-day basis, and managing the unpredictability of the mast cell diseases and their symptoms can be quite challenging."

Very interesting research. Very astute of you to connect celiac disease. So much more research is needed...

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POTS and mechanisms are listed on the main DINET site, not the forum, and can be found here:

http://www.dinet.org/what_are_the_mechanisms_of_POTS.htm

you can other information under the side bar links on the left of the page.

Other resources can be found under the pinned topic on the forum that's starts with "help yourself"

Nina

Thanks for the links Nina. What I really want is Etiologies. What causes Dys.? Is it as simple as congenital and acquaired? I think I developed an autonomic neuropathy after an infection with the Epstein Barr virus. How exactly did the virus damage the ANS, where it can't repair itself? Is the virus still active there, is this why my ANS has not healed? This is the kinda stuff I'd like to know.

In the acquired form, what exactly is the problem? There appear to be a problem with acetylcholine transmission hence why Mestinon is so effective (for some people anyways). Is is a decrease in Ach production? I read a study linking antibody on acetylcholine receptors. Maybe this is true in some of us??

I need to spend more time reading the site. It seems some of these questions are already answered! Sorry If I'm being redundant. IF the problem is autoimmune, I think this can be improved by using vitamin D and perhaps, inducing autophagy. Just a thought. Is the mayo clinic the only place that tests for these antibodies?

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Mack's Mom--I just kind of look at MCAD as something that happens because a "trigger" causes a reaction, that is why I called it a reaction disorder. When I read all of that, I see that histamine is released as a "reaction" to an unknown trigger, and who knows what that trigger is? It could be wheat gluten or it could be something else. At some point we are going to talk this out so much that we will start connecting those dots, as Intuit said. I just hope it is sooner than later, so we can all have a reunion somewhere, when we are all well and can travel. :rolleyes: I know that might be my first vacation I've had since this all started. I just know if we are going to find answers, it's like everyone said yesterday, it's going to happen in these discussions. At some point we might all say, "Yea, it happens like that in me, too". I learn so much on this board every day, especially in symptom commonalities.

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