Zap

I'm here - I do think there are at least a few of us guys who tend to post, but in the greater scheme of things there are a lot more women. Don't get me started on how that seems to insinuate at least SOME gender bias not unlike that of autoimmune disorders.... The doctors sure as heck don't see it, but it seems pretty obvious from being around here for any length of time. There definitely have to be more of us than are represented here on the forums. I wonder, though, how many swear off all treatment due to the abusive nature in which some of us are treated by the medical profession. Especially if they tend to see mostly/all male doctors, many of them are very dismissive, and if there is no physical marker from testing or as a symptom, the problem simply doesn't exist to them. It makes me think about reading how MS patients were told they had psychiatric disorders in the past. That tends to be a no-fly-zone for a lot of guys. Due to these socially imposed concerns, I wonder if the misdiagnosis rate for guys is even WORSE than it is for women. At any rate, it is frustrating to be in a position where society expects you to be the bread-winner and to feel so crippled and worthless by all of this that maybe it deters most guys from admitting anything is wrong with them at all to save face. I've sadly noticed this ego problem with other social concerns amongst guys. Not only does it stand in the way of self-honesty, but it then just perpetuates injustice because of the silence. Come on, guys, we're better than this. Really. Sorry for the rant - I've been having a few REALLY BAD weeks and I'm getting very tired of the inaction on the part of all doctors involved.

Okay - well you're not the only one - I noticed this phenomenon with myself as well. For some reason, it generally improves rather than degrades my symptoms as a whole. My theories on this would be immunosuppression, reduction in inflammation (even if only temporary), nutritional content (beers can be high in B vitamins due to the yeast), SNS depressant effects, and/or donation of methyl groups for neurotransmitter production. I've never been able to pinpoint exactly why alcohol helps.

Okay, that was a bit faster than I expected.... I found 27 SNPs in SCN9A and 5 in SCN10A in databases. Unfortunately, 23andMe doesn't have many of the SCN9A SNPs, so it may be advantageous to have the gene sequence performed. The ones that are present: SNP / Typical Allele / Risk Allele / Disorder(s) SCN9A Rs41268673 / G / T / Primary Erythermalgia Rs4438497 / T / C / Dental Caries Rs6746030 / G / A / Nociceptor Excitability, Increased Pain, Primary Erythermalgia SCN10A Rs6795970 / G / A / Variation in Cardiac Conduction Rs6798015 / T / C / Variation in Atrioventricular Conduction Rs6800541 / T / C / PR Interval Rs6801957 / C / T / QRS Duration, Cardiac Ventricular Conduction These are all the ones I found that 23andMe has data for... I'm not 100% on the distribution of risk on the last SCN10A SNP. It appears that variation is more common than on the rest of the SNPs listed. The present tests they were trying to cross-link in the study above were SFN diagnosed via biopsies and SFN diagnosed via QSART with sodium channel mutations.

One of the major issues here is bridging the gap between identifying the root cause and treatment. 23andMe does have SCN9A or at least part of it in their raw data but I haven't found a matrix that indicates which alleles are mutations to interpret it yet. Might have to scour through all the SNPs and create a table, of sorts OR have the testing done to get a concise answer. SCN10A is also potentially a source of issue here, which is Na(V)1.8 - and is also potentially responsible for some chronic pain and other neurological issues. There has been work on creating Selective Sodium Channel Inhibitors - as currently most meds used for chronic pain are being used off label and are suspected to modulate sodium channel activity in addition to what their primary functions are. Hence why they may help with pain, but cause many other undesired side effects. This is a widely held suspicion about Tricyclics and why they work for pain. I'm presently putting together a matrix for SCN9A and SCN10A to cross-check for mutations. I'll post back when I've managed to sift through everything. Guessing my neuro will at least try to order the tests to verify my work. This is exciting, as I may have also found a few novel medications that might be just the thing for modulating these sodium channels with minimal side-effects.

Got a laundry list in my signature, but here's the rundown: SSRI/SNRI have all been horrible experiences (Zoloft when younger, Lexapro, Effexor). Talk about feeling lobotomized, tired, and hungry - AND making me feel depressed. Ugh. So many bad side effects - lowest dose, and given time to work through. Also TERRIBLE tapering off ones that were around for a while. Nortriptyline caused racing heart issues on the lowest dose. Wish it hadn't as it helped with migraines better than anything else so far. Propranolol worsens OH so even though it helped in some regards, I couldn't tolerate it. (It was used for migraines) Gabapentin increased appetite a bit on the lowest dose, with too much weight from other drugs causing gain it was stopped. Sadly, at this point, I feel best with nothing (which is to say I feel bad instead of worse). Still looking for something that might help without causing more harm, and I may have found a few new things to try.

Those are tests that indicate autoantibodies, and therefore are looking for autoimmune problems. Adolase looks for muscle or liver damage - Adolase is an enzyme that helps break down sugars into energy. The second indicates antibodies that bind to ACh receptors. The third indicates antibodies usually run to check for myasthenia gravis, though it may be present in other autoimmune disorders. The fourth indicates antibodies that modulate ACh receptors. So, it looks from a glance that your Adolase could possibly be high (but without the specific lab range, that may not be true!) Also, two other tests appear to be in the normal range. The binding antibody is double the reference limit, but the doctor may be looking for something massively high before they consider it to be an issue. I take it this was part of the Mayo Dysautonomia Panel? That is generally used to rule out a whole bunch of either known dysautonomia causes OR other disorders that can mimic the symptoms.

I had an EKG that claimed that I had an inferior infarct (heart attack). This was of course interpretation by the computer. The manual reading disregarded it, but also did an echocardiogram as insurance which came back normal and proved that there was no such heart attack. Considering I'm 30 and have never had any problems of that sort, I wasn't surprised, but better safe than sorry!

Interesting - converting either cortisone or hydrocortisone on the steroid equivalent chart shows that to be quite a low dose. My moment of truth was using Dexamethasone, near the low end of its dosing scale, but even still that results in approximately 10x as much, equivalent to around 25 mg HC (or somewhat equivalent to a normal amount the body should be producing). It was only for a short term, and who knows if less would have had an effect or if something with more mineralcorticoid action would have been different. That said it also is a lot more anti-inflammatory, so that could have likely been playing a part, too. I've reached another moment-of-truth. Two more salivary cortisol tests went in for processing today, if they match my other botched tests, maybe I'll finally find a root cause for the unexplained part of my misery. I figure with two doctors saying my dysautonomia is only mild that there must be something else at play keeping my ability to function reduced. Time will tell, I suppose.

I've seen this research, and I agree with it - even in spite of normal levels of antibodies, if hormone levels have issues (maybe sub-clinically) then the immune system isn't operating properly, and as a result it may not be able to overcome the chronic infection. Stimulating it has helped me, but even in spite of all I've done in the past (strict diet, copious amounts of herbs, etc) I have yet to be able to do anything more that keep things at bay for some of the time. This seems to indicate some other type of functional abnormality that allows the infection(s) to return as soon as one lets their guard down, even a little tiny bit. Reference this article: http://www.ncbi.nlm.nih.gov/pubmed/2062254 In addition to the well-known detrimental effects of large, pharmacologic dosages of glucocorticoids upon the immune process, there is impressive evidence that physiologic amounts of cortisol, the chief glucocorticoid normally produced by the human adrenal cortex, is necessary for the development and maintenance of normal immunity. This just shows how much of a balancing act is necessary to keep the body operating correctly. The article goes on to say that there is a feedback mechanism between the HPA axis and the immune system. In my research I've seen indications that function of the hypothalamus is affected by chronic stress (including things like PTSD). Chronic disorders (chronic fatigue, POTS, Fibro) may stem from the body attempting to adapt to changing conditions that don't seem to abate (and may even cause other comorbid issues like PTSD). Many of the symptoms could be related to deeper problems, which appear to be tied to immune function and HPA activity.

Yes, I believe that is the one (though maybe from a different journal or source). There are different sets of abbreviations used for the various genetic alleles, depending on the source. It looks like you're also heterozygous, hence a 21% increase in excretion, at least per the genes. I'm not sure how this ties into the increased production issue - because even if there was elevated production, there is also greatly elevated excretion, which in theory could possibly result in low levels. I would think that it would be completely unsound to recommend anyone that has high blood pressure increase salt intake. That said, diuretics certainly seem wrong for POTS. I definitely still think that there is an autoimmune connection and this article seems to discuss abnormalities in steroidal excretion - which could set the stage for autoimmunity. What I find reprehensible is that despite some of the other articles that have been posted that postulate that POTS is an autoimmune disorder, or that at least a subgroup has specific indications of autoimmunity, is that most doctors won't dare to attempt to treat it with a 100 foot pole. Their flawed assessment of risks of autoimmune treatments versus their ability to alleviate suffering cannot be understood by a completely normal, healthy person. Many of those that are sick would likely take huge risks for the possibility of being something approaching normal. The doctors should not be allowed to stand in their way, but rather to provide information and compelling arguments to weigh a decision that should ultimately belong to the patient.

It may indeed be that the body somehow thinks there is low volume, as at least one or two studies have shown no functional lack of perfusion in the brains of POTS patients. This at least explains a lack of any physical damage, but leaves the hanging question as to WHAT could possibly be going on to cause such symptoms. My problem is I seem to have a migratory etiology - I've gone from pain and achy back to dizzy and confused. At least in this expression / phase of my troubles, salt seems to improve my symptoms. Other times, it doesn't do as much. That is probably the most confusing part of all of this - the changing collections of symptoms. I don't know if many others have this same phenomenon, though I've seen it mentioned at least once or twice before. Since I posted, I've been reading about some other disorders, including glucocorticoid resistance, which can cause some other steroidal imbalances as well. The treatment, is ironically the same as that which made me feel normal again - a small dosage of dexamethasone. At least in my case this certainly warrants further research. This disorder can also cause blood volume issues as it affects aldosterone and sex steroids through compensatory feedback. Some research even indicates that autoimmunity and rheumatoid disorders may have underlying causes in HPA axis abnormalities, which eventually trigger the inception of disease. This has a certain similarity to possible onset causes of dysautonomia, as infections can modulate the HPA axis, leading to unforeseen consequences.

I've been revisiting this dialogue on account of some of my endocrine test results that were discovered to have irregularities (and need to be redone). My reading further sent me looking at more genetic items, the most interesting of which is a gene that results in greater urinary excretion of aldosterone. The SNP in question is rs6387 - each G allele results in 21% higher THAldo excretion (a metabolite of Aldosterone). This is also tied to excretion of androgen, THCortisol, and cortisol metabolites. Reductions in 11-hydroxylase efficiency can result in impaired production of cortisol and aldosterone production (via lowered corticosterone). Adding this to enhanced excretion could result in deficiencies of essential hormones that regulate blood volume and inflammatory response. I'd be curious to see how many others have mutations in the rs6387 gene. I've got one G allele, and 21% higher excretion of aldosterone doesn't seem to be anything to scoff at. Maybe the resulting numbers are even sub-clinical given current testing and width of the normal ranges. It would also be worth noting whether hypovolemia is likely present or not, since this mutation may OR may not apply to other etiologies of POTS, aside from hypovolemia-based ones. It is also interesting to think that, if a perfect genetic storm occurred one could be prone to high blood pressure, but exhibit normal blood pressure due to changes in aldosterone excretion. This would definitely be a red herring for diagnosis of certain disorders, given the absence of highly expected symptoms, like elevated blood pressure. May even explain how one syndrome can have such different sets of symptoms based on each individual. Food for thought.....

The recent autoantibody article re: POTS & autoimmunity stated that there were autoantibodies to mitochondrial enzymes. I'm starting to really feel that this whole mess of syndromes that seem to come in groups for many of us become a "chicken or the egg" question. Find the root cause, and treat it, should be the real goal. If it is autoimmunity, does treating that clear up everything, or most everything? There don't seem to be enough cases where this has been attempted and studied to get a definitive answer.

I've been summoned twice to serve on a jury before, but wasn't kept for the final pool of jurors the first time. I think being an engineer often gets you excused by one party or the other, haha. The county court is also only 5 minutes from my house, so not too bad. Getting there early AM though was not fun. The last time I was in a bad flare, and wrote them an explanation (this one was federal and would require a drive of 45 min or more each way, plus the time served). They didn't require a doctor's note, but they excused me from duty. I figure it will be a while before I get asked again, but maybe next time I will be in better shape. Can hope so, anyway!

I've had an echocardiogram - it takes a bit of time depending on what all is being looked at. They did a bubble study to look for PFO (due to migraines), though it was negative. To do it, they agitate saline and inject a small quantity into a vein to be drawn into the heart. The idea is that bubbles will cross the heart through the PFO if it exists. It only took a few extra minutes to perform. Most likely you're going to have a TTE, where they simply use a probe on your chest. The TEE they put the probe down the throat, and it gives a better image result, but it is generally only done when a good enough view can't be had by using the external probe. Sometimes the ribs/lungs get in the way of what they are trying to see. Anyhow, with a TTE - they position the probe to take all sorts of images from a number of angles, to check out all the heart valves, chambers, tissue, as well as the flow of blood. I do recall sitting there for a period of time watching them take all the different angle captures. It isn't bad, at all, though - you're laying down and they put the gel on your chest which can be a little cold, but there really isn't much discomfort. Mine was also done in a dim room, so you should generally be able to relax, aside from maybe having to move a few times to let them get a better angle.

Excellent - Thank you!! I'm taking this with me on Tuesday to my appointment as I've had a bad bout of symptoms lately. They're starting to find the missing links, and considering this is at Mayo, I wonder if/when they will offer actual testing. Maybe some of the markers could end up on the autonomic panel.

I had a Tilt Table Test, Valsalva, QSART, and Thermoregulatory Sweat Test. I had officially abnormal results in the QSART and TST. The TTT did show a rise of 30 bpm but for whatever reason that wasn't used to Dx POTS. So at the time I was given the diagnoses of Dysautonomia and Patchy Postganglionic Sudomotor Neuropathy. Autoimmune is hard to confirm - I had the Mayo autonomic test panel run, but none of those tests came back positive. The research (not to mention the female/male ratio) suggest strongly that many are autoimmune origin, but the specific marker hasn't yet been found. So, in short, some end up languishing without treatment since there isn't a specific confirmed autoantibody to be used as a definite diagnosis tool. I had a lot of autoimmune tests run, too, but they all pretty much came back normal. That said, I'm not sure the testing was exhaustive.

Yes, I have all sorts of digestive issues. When things went downhill and the migraines came back out of nowhere, I was convinced there was a digestive connection causing it, as my digestive symptoms got worse and worse. Eventually I made the connection and asked about dysautonomia, since I had all sorts of bizarre symptoms (including the awful sweating bouts). I was sent off for testing, and that confirmed the diagnosis, and it was decided that the digestive issues were probably linked all along to the overall autonomic dysfunction. I'm actually having a bit of a flare again, so this is a rather timely post. I have used digestive enzymes, Iberogast, as well as other things to help cope with the problems. I suppose it is worth noting that my digestive symptoms magically subsided for the most part during my short term courses of steroids that were used to break migraine cycles. Which definitely provides ammo that there is an autoimmune connection, at least in my case, which is the underlying cause of so much of my suffering.

I've gotten fed up many times with the terrible side effects, and realized that so far I've been better off (not that I'm doing particularly well) without any Rx stuff. I've had benefits from a few supplements, but that's about it so far.

It dawned on me that I always felt best right after migraines. This could very well be due to the effects of the migraine-stopping drugs. In earlier days, I took Midrin, a compound of three drugs. The compounds likely responsible for my higher functioning would be isometheptene (a vasoconstrictor) and dichloralphenazone, which is a sedative. I've never had ergotamines, but they also generally function as vasoconstrictors. I do also feel better post-Imitrex, which has vasoconstrictive effects. This probably warrants further research. Maybe it counteracts hypovolemia? There were positive effects from nortriptyline, and I did also notice that my BP was slightly higher while on it (that said the side effects were terrible, and I didn't last long taking it). I haven't ever measured BP after taking migraine medications - I wonder if they raise it, too.

This is interesting - and it would be even more so if we could cross-reference with our data to verify a lack of a genetic defect. That would pretty much prove your idea that this is more epigenetic in nature. In that light, maybe that is why anti-inflammatory drugs (steroids) prove helpful for some, which begs the question: Is the NET dysfunction for some/many of us secondary to some type of unknown autoimmune/inflammatory disorder or process?

Love the fact that these articles keep popping up. It shows that there is serious research proceeding AND that what many have believed to be true (autoimmune etiology), is in fact likely to be correct. Obviously the treatments for such things leave something to be desired, BUT they do have to be better than having nothing at all (which is what some of us currently have).

Turmeric/Ginger works great for pain relief - better than a number of other conventional items that I've tried. There are others here using it as well, with success. On the non-existent serotonin / dopamine levels - has your son ever done genetic testing? There is a co-factor called BH4 that is necessary for the production of these neurotransmitters. Certain genetic mutations can result in low levels of BH4 (most commonly, MTHFR A1298C, which is responsible for recycling of this important factor). 23andMe can provide a number of insights, but your doctor can also run the specific MTHFR gene blood test for the results for two of the most problematic genes. Hope this helps!

That is excellent news! There are a myriad of things that can be at least improved by dietary adjustments. Maybe someday they will actually do clinical trials so that the evidence that already exists will be accepted as fact. Sure, not everyone is willing to modify their lifestyle, but they at least deserve to be informed that it has the potential to help them. I'm sure you're due to astonish any further doctors you come across with this reversal. Enjoy your success - you've earned it!

I suppose my thought is that if the body is already in a state of attempting to purge water/electrolytes that adding more will just make it correspondingly purge more. The Florinef at least works in a similar manner to aldosterone, which tells the body to conserve water and electrolytes. Supplementing it into the bloodstream will ultimately have the desired reaction UNTIL the additional levels cause the body's own aldosterone production to drop, as it believes them to be too high. So if the body is mediating these things in the first place by lowering aldosterone, adding a synthetic copy of it will not do much better than adding more salt and water. The problem is ultimately trying to force the body to do what one wants instead of figuring out WHY it is behaving this way and finding the root cause for this. Once the root cause is treated, it is likely that aldosterone levels will normalize on their own accord. If the root cause is indeed an autoimmunity, it would make sense that attempting to balance that will shift the entire body's process toward normal. I can certainly attest that my week stint of dexamethasone a while back definitely normalized many things. But again, one has to ask if the body will then lower cortisol as a result if levels are artificially raised for too long, causing a vicious cycle with the body's own feedback systems.