19 ms·

I have an unexplained autoimmune disease. Like others have said, I can't imagine any doctor actually going this deep with me. I've probably seen 20 doctors, b

I have an unexplained autoimmune disease. Like others have said, I can't imagine any doctor actually going this deep with me. I've probably seen 20 doctors, but none of them have taken me very seriously at all. Some prescribe me something and say "see if that helps," others flat out say, "I'm not sure what is going on here and I don't know how to help you," but nobody has said, "We should consider looking at your DNA to see what's up here. I'm really interested and want to figure this out with you."

CogitoCogito 4y ago
How do you know you have an autoimmune disease? Did those doctors diagnose you with one and then proceed not to take you seriously?
- minsc_and_boo 4y ago
  You typically show symptoms of autoimmune attacks, like neuropathies, elevated WBCs in blood/CSF, protein in CSF, inflammation biomarkers, etc. What becomes difficult is determining what triggers the autoimmune attacks, as it could be based on diet, stress, or any range of indeterminable factors. Providers typically are able to eliminate most of the known autoimmune diseases, but for determining a new one, you need a research team and many years.
- dangero 4y ago
  My issues respond to immune system suppression drugs that are ill advised for long term use like Prednisone.
minsc_and_boo 4y ago
I'm in the same boat - unknown autoimmune disease, talked to teams of neurologists in different health networks. All they can do is prescribe treatment for symptoms, not causes, which is frustrating. How does one even go about sequencing their DNA?
- mrguyorama 4y ago
  Say you get your DNA sequenced, say they even find a segment that seems "off" from other DNA sequences. What the heck would you do about it? We don't understand DNA and protein folding enough to actually take the output of DNA sequencing and give you something to change that. We don't have a comprehensive view of the human body or biology or DNA to do anything with it. There's not really going to be much in the way of treatment for a single instance of a random negative mutation.
  - belval 4y ago
    You can find solace in knowing what's wrong with you and track studies for your particular gene that's off. It's not a given that your autoimmune disease wasn't at least studied at one point, knowing what the markers are and whether you have them could help track down whatever knowledge exists.
  - thewebcount 4y ago
    They may be able to tell things like "You are a rapid metabolizer of drug XYZ" or "You are a poor metabolizer of drug ABC". Knowing that they may be able to try more effective therapies for you that they wouldn't normally have thought of.
  - janeway 4y ago
    Approximately 20% of rare diseases get diagnosis in my lab. Note these are usually very extreme cases where the people are quite sick. More common genetic diseases are picked up by routine clinical genetics which don’t reach me. Interestingly some of the hardest illnesses to detect are those which are common but no known mechanism - since they are common they are hard to detect statistically. If you have a genetic diagnosis you are more likely to get medical care targeting the root cause instead of treatments that can only treat the general symptoms - like anti inflammatory drug, etc. In rare cases people may get transfusions to replace their protein deficiency, etc.
    - dangero 4y ago
      in some cases can't stem cell become an option too if they know it's a DNA issue?
agumonkey 4y ago
not knowing is one thing, not taking things just a bit seriously is a breach of medical professionalism. it's very common sadly
- thewebcount 4y ago
  Exactly. If your doctor tells you that your symptoms are probably just anxiety, find another doctor. (Yes, anxiety is a real thing, but it's used way too often to dismiss symptoms a doctor doesn't understand.)
  - agumonkey 4y ago
    Even if it's anxiety, as a doctor, give something tangible, if you know the inner workings of the body, you can point at improvements. Not just "in your head, bye"
Calavar 4y ago
> nobody has said, "We should consider looking at your DNA to see what's up here. I'm really interested and want to figure this out with you." The vast majority of doctors don't have the expertise or resources needed to do that. A doctor can't write a script for whole genome sequencing just to see what turns up - it will be rejected by insurance 100% of the time because that's going outside the scope of standard practice. And even if they did manage to sequencing done and a novel mutation popped up, there isn't anything to do with that treatment-wise. The next step would be going back to the lab, synthesizing mutant RNA and/or peptide sequences and studying their properties. And it would likely take years for that to translate into knowledge that is clinically useful. If you want that kind of care, you need a large, academic hospital that has an ultraspecialist with an active and well funded research program in the relevant area. They can cover the costs of nonstandard tests out of their research funds. And if unusual findings pop up, they have the equipment/resources to follow that up with further studies.
- PragmaticPulp 4y ago
  > A doctor can't write a script for whole genome sequencing just to see what turns up - it will be rejected by insurance 100% of the time because that's going outside the scope of standard practice. To be clear, doctors frequently requisition genetic tests for suspected conditions when the test is justifiable and actionable. If you are demonstrating symptoms of a specific condition and genetic testing can be part of the diagnostic process, you can generally get it covered and performed. However, getting a whole genome sequence and then scrolling through the results isn't as actionable as it sounds. You can do it yourself for under $500 if you really want. A lot of people have gone down this route and been surprised at how little signal you actually get out of the data, unless you have a rare and significant variation.
  - FollowingTheDao 4y ago
    > To be clear, doctors frequently requisition genetic tests for suspected conditions. No, they do not. I have been fighting for this for 20 years. I ended up finding my own genetic issue (23andme) myself and they STILL do not care. They would rather let me rot on disability and homelessness.
88913527 4y ago
This could be true for many professions. If I need some long-tail obscure help (suppose, for example, my car was acting up in a strange way the mechanic never had seen or heard of before) I'd expect roughly the same set of reactions. Most professionals are state machines that do X Y Z well. You throw A B C at them and few will introspect deeply into it.
- s1artibartfast 4y ago
  Exactly this. You have to run into an individual on the long tail of mechanics that is uniquely curious about finding the root cause, or throw enough money at them that they are incentivized to track down the problem. Doctors are no different than other humans. Your problem isn't necessarily their problem.
  - mindslight 4y ago
    Sure, but coming at it from a programming/engineering background, that is a tough pill to swallow. If I'm going to a "professional" and paying them $1k/hour, why the fuck aren't they applying their full intellect to analyze my problem ? If we're supposed to expect front line doctors to be mere rule-applying automatons that just take a few pieces of input and produce outputs like "run common test X" and "apply common drug Y", that's technician-level work that should cost closer to mechanics' shop rates - where it can't just be entirely replaced by automation and self-service.
    - 88913527 4y ago
      Doctors cost so much because there are artificial caps on supply in the US. So much for the hippocratic oath of "do no harm". Fewer doctors decreases access to the medical system which undoubtedly causes harm.
      - nradov 4y ago
        The main cap on the supply of doctors is imposed by limited Medicare funding for residency programs. Members of Congress who control that funding aren't subject to the Hippocratic Oath. https://savegme.org/ https://savegme.org/
janeway 4y ago
I do clinical genomics. Highly recommend you to find a university hospital that can do genomic analysis for you. The IUIS IEI list has ~500 known genes that could be causal if you have some variant in one of these genes. The key is a good bioinformatic interpretation and clinical follow up. There are even some good commercial options that might be able to detect a causal variant. These guys can do it after order via healthcare professional https://blueprintgenetics.com/patients/?group=ordering-patients https://blueprintgenetics.com/patients/?group=ordering-patie... or these guys can do it from home; first the genome sequencing and then the immune panel report https://dantelabs.com/products/autoimmunity-panel https://dantelabs.com/products/autoimmunity-panel Likelihood of finding causal variants has doubled in last 5 years. * IUIS page: https://iuis.org/committees/iei/ https://iuis.org/committees/iei/ * latest version of gene list: https://static-content.springer.com/esm/art%3A10.1007%2Fs10875-022-01289-3/MediaObjects/10875_2022_1289_MOESM2_ESM.xlsx https://static-content.springer.com/esm/art%3A10.1007%2Fs108... * from this paper: https://link.springer.com/article/10.1007/s10875-022-01289-3 https://link.springer.com/article/10.1007/s10875-022-01289-3 Great info also in IPOPI website https://ipopi.org/about-ipopi/mission-and-objectives/ https://ipopi.org/about-ipopi/mission-and-objectives/
- dangero 4y ago
  Thanks so much for this information I'm definitely going to look into this.
  - janeway 4y ago
    Sorry, I added some links in an edit just now - in case you missed them originally.
    - dangero 4y ago
      I ordered a Dante Labs kit actually -- that seems like a solution I can afford and at least then I will have my genome on disk for anyone who wants to see it.
      - 4y ago
AnIdiotOnTheNet 4y ago
> "I'm not sure what is going on here and I don't know how to help you," In my experience even this is significantly better than you'll get out of the average doctor. I'd gladly see a doctor who was willing to say "yeah, something is wrong but I have no idea what" instead of being dismissive.
PragmaticPulp 4y ago
> but nobody has said, "We should consider looking at your DNA to see what's up here. I'm really interested and want to figure this out with you." You could sequence your own genome and use a service to compare it against the ClinVar database that correlates genetic variations with research. Odds are that you won't find anything useful to your specific condition. Most autoimmune issues are acquired, not genetic. With few exceptions, the common genetic variations associated with many diseases can't be used in a diagnostic manner. A genetic variant that increases your odds of contracting a rare disease by 10X might sound significant, but if it's truly a rare disease then you could be going from 0.001% to 0.01% odds. The unfortunate truth is that if your condition doesn't match something that can be diagnosed with the tests available to your doctors, there isn't much they can do to forge ahead with new research on their own. That's the role of researchers, not doctors. And it takes decades to get to the bottom of conditions, if ever. You might have some luck scouring the internet for similar-sounding conditions and groups who research them. Occasionally you can find your way into clinical trials or registered on waitlists for researchers who might need candidates to test.
- dennis_jeeves1 4y ago
  >Most autoimmune issues are acquired, not genetic You are correct. I see 'gene' blaming when there is no cure, or the underlying reason is not know.
almog 4y ago
While I (probably) don't have an autoimmune disease, in knowing that I'm not the only person that have experienced that sort of helplessness navigating my way through the medical system, without even finding a defining name for the condition in question. I tried searching online for the symptoms only to find very general cases that do not have some of the main characteristics. Quite the same feeling one gets when they search for an error message only to find the source code that raises that exception. :) Sometimes I think the medical issue I'm suffering from is annoying enough but not being able to diagnose it just adds an insult to injury. Is it that I cannot express my problem well enough to find similar cases online? Is this such an obscure case or maybe a lot more people are experiencing it but they just handle it so much better that they don't feel the urge to complain about it? Just to be more specific and less mysterious, I'm suffering from mild chronic joint pains, in pretty much every joint starting from ankle, knee, lower back, neck, elbow and hand. The tricky bit, and the reason I didn't use plural, is that the pains only occur on either left side or right side of my body, but only one side at a time, usually the pains will switch sides (left <=> right) overnight (though not every night). It has low correlation with the intensity and volume of physical activity I'm doing. Blood tests show nothing out of the ordinary, C.T shows that I do have mild case of bulging discs in my back, which would have explained back pains (which I have) but not the issue of feeling them in just one side (along with every other joint in that side). These pains, mild as they are do not respond in any way to NSAIDs. Popping my knuckles (and every other joint you can think of) helps momentarily. If the pain level is above normal, sleeping is affected too (in fact it's almost always affected to some degree), which in turn amplify the pains as poor sleep would do. Nerve conduction tests also revealed nothing and the doctors I've seen couldn't offer any observation. The fact that I have quite an athletic build doesn't help either since doctors note that and assume that I'm doing just fine. In fact though, these pains, which have started in my teenage years and have become worse in my early twenties (I'm in my late thirties now) take a daily toll on me, in terms of sleep, fatigue and my attention span. I'm lucky to have been very healthy in my life other than that, but I feel that I could have done so much better if I didn't have that invisible medical issue affecting me every day.
- treeman79 4y ago
  Could be microclots. TIAs or mini strokes. They won’t show up on MRIs unless you get very lucky. I kept having stroke symptoms, one sided weakness being the biggest one. 3 years of being told it was clots. A big clot showed up in lung and nearly killed me. Put me on blood thinners and one sided weakness and other symptoms cleared up. They ran genetic tests. I have a clotting disorder, factor 5 Leiden. Plus an autoimmune condition that is known for clotting problems. Even 325mg aspirin will “mostly” stop issues for me.
treeman79 4y ago
I had same thing. Mystery condition. Symptoms started in high school. Doctors always brushed off concerns. 20 years later, Finally body collapsed 2 years and dozens of doctors appointments to finally figure out its autoimmune Sjogrens. Second most common autoimmune after Lupus. However doctors says I can’t have it since I’m male. Took another year to get all the test runs and to start treatment. Doctors fighting at every step. Only when I had drastic improvement from treatment did they finally take me serious. Apparently my situation is typical for Sjogrens.
deleted 4y ago
[deleted]
legohead 4y ago
> Some prescribe me something and say "see if that helps," That's pretty much all they're doing with her, too. They don't seem to be close at all at actually solving her problem. I'd summarize her story as "thanks for your unique blood, it may help us create medical miracles one day. in the meantime, try this new drug, it might do something"
csomar 4y ago
Most doctors, unfortunately, are pharmacological resellers. They get a list of medicines for symptoms and they prescribe it. A surprisingly high percentage of them will prescribe you these medicines regardless of your symptoms or condition. Doctors who have a specialized and sophisticated area of expertise do exist, but they are 1. very expensive and 2. rare and between. tl;dr: most doctors don’t give a flying f— about you or your condition.
bradknowles 4y ago
There are companies out there who have extensive data on which of hundreds of genetic SNPs (single nucleotide polymorphisms) correlate to which conditions that have a genetic component. They take a DNA sample, run it through their assays, and then they give you a sixty (or whatever) page laymen's description of what all your various SNPs mean for you from a medical perspective. They then give your doctor a one hundred (or whatever) page detailed description which can then be used to guide your medical care in a wide variety of areas. For example, there might be three different main SNPs that relate to vitamin B-12. One might relate to how easily your body absorbs it. One might relate to how fast your body consumes it. One might relate to how it is disposed of in your body. And if you have the bad version of each of these SNPs, then that has a huge impact on your life -- because vitamin B-12 turns out to be pretty important (see https://www.mayoclinic.org/drugs-supplements-vitamin-b12/art-20363663 https://www.mayoclinic.org/drugs-supplements-vitamin-b12/art... ). But, there might be things you can do to improve your situation related to vitamin B-12, such as always using the methylated version. And maybe you just need to consume a lot more vitamin B-12 than most people. These are things your doctor can help you with, once they are armed with the DNA data. I'm not going to mention company names here, because we have a connection to the company we've used. And this is an expensive service. So, I don't want to be accused of shilling for this company. But my wife has already had her test. And I'm planning on getting mine as soon as I can. And there are multiple companies in this space. Even if you don't use the same company we have, I think the important thing is that if you have major medical problems that are unexplained or difficult to address, then I think this is the kind of service that you might want to look into.

CogitoCogito 4y ago

How do you know you have an autoimmune disease? Did those doctors diagnose you with one and then proceed not to take you seriously?

minsc_and_boo 4y ago
You typically show symptoms of autoimmune attacks, like neuropathies, elevated WBCs in blood/CSF, protein in CSF, inflammation biomarkers, etc. What becomes difficult is determining what triggers the autoimmune attacks, as it could be based on diet, stress, or any range of indeterminable factors. Providers typically are able to eliminate most of the known autoimmune diseases, but for determining a new one, you need a research team and many years.
dangero 4y ago
My issues respond to immune system suppression drugs that are ill advised for long term use like Prednisone.

minsc_and_boo 4y ago

I'm in the same boat - unknown autoimmune disease, talked to teams of neurologists in different health networks. All they can do is prescribe treatment for symptoms, not causes, which is frustrating. How does one even go about sequencing their DNA?

mrguyorama 4y ago
Say you get your DNA sequenced, say they even find a segment that seems "off" from other DNA sequences. What the heck would you do about it? We don't understand DNA and protein folding enough to actually take the output of DNA sequencing and give you something to change that. We don't have a comprehensive view of the human body or biology or DNA to do anything with it. There's not really going to be much in the way of treatment for a single instance of a random negative mutation.
- belval 4y ago
  You can find solace in knowing what's wrong with you and track studies for your particular gene that's off. It's not a given that your autoimmune disease wasn't at least studied at one point, knowing what the markers are and whether you have them could help track down whatever knowledge exists.
- thewebcount 4y ago
  They may be able to tell things like "You are a rapid metabolizer of drug XYZ" or "You are a poor metabolizer of drug ABC". Knowing that they may be able to try more effective therapies for you that they wouldn't normally have thought of.
- janeway 4y ago
  Approximately 20% of rare diseases get diagnosis in my lab. Note these are usually very extreme cases where the people are quite sick. More common genetic diseases are picked up by routine clinical genetics which don’t reach me. Interestingly some of the hardest illnesses to detect are those which are common but no known mechanism - since they are common they are hard to detect statistically. If you have a genetic diagnosis you are more likely to get medical care targeting the root cause instead of treatments that can only treat the general symptoms - like anti inflammatory drug, etc. In rare cases people may get transfusions to replace their protein deficiency, etc.
  - dangero 4y ago
    in some cases can't stem cell become an option too if they know it's a DNA issue?

agumonkey 4y ago

not knowing is one thing, not taking things just a bit seriously is a breach of medical professionalism. it's very common sadly

thewebcount 4y ago
Exactly. If your doctor tells you that your symptoms are probably just anxiety, find another doctor. (Yes, anxiety is a real thing, but it's used way too often to dismiss symptoms a doctor doesn't understand.)
- agumonkey 4y ago
  Even if it's anxiety, as a doctor, give something tangible, if you know the inner workings of the body, you can point at improvements. Not just "in your head, bye"

Calavar 4y ago

> nobody has said, "We should consider looking at your DNA to see what's up here. I'm really interested and want to figure this out with you." The vast majority of doctors don't have the expertise or resources needed to do that. A doctor can't write a script for whole genome sequencing just to see what turns up - it will be rejected by insurance 100% of the time because that's going outside the scope of standard practice. And even if they did manage to sequencing done and a novel mutation popped up, there isn't anything to do with that treatment-wise. The next step would be going back to the lab, synthesizing mutant RNA and/or peptide sequences and studying their properties. And it would likely take years for that to translate into knowledge that is clinically useful. If you want that kind of care, you need a large, academic hospital that has an ultraspecialist with an active and well funded research program in the relevant area. They can cover the costs of nonstandard tests out of their research funds. And if unusual findings pop up, they have the equipment/resources to follow that up with further studies.

PragmaticPulp 4y ago
> A doctor can't write a script for whole genome sequencing just to see what turns up - it will be rejected by insurance 100% of the time because that's going outside the scope of standard practice. To be clear, doctors frequently requisition genetic tests for suspected conditions when the test is justifiable and actionable. If you are demonstrating symptoms of a specific condition and genetic testing can be part of the diagnostic process, you can generally get it covered and performed. However, getting a whole genome sequence and then scrolling through the results isn't as actionable as it sounds. You can do it yourself for under $500 if you really want. A lot of people have gone down this route and been surprised at how little signal you actually get out of the data, unless you have a rare and significant variation.
- FollowingTheDao 4y ago
  > To be clear, doctors frequently requisition genetic tests for suspected conditions. No, they do not. I have been fighting for this for 20 years. I ended up finding my own genetic issue (23andme) myself and they STILL do not care. They would rather let me rot on disability and homelessness.

88913527 4y ago

This could be true for many professions. If I need some long-tail obscure help (suppose, for example, my car was acting up in a strange way the mechanic never had seen or heard of before) I'd expect roughly the same set of reactions. Most professionals are state machines that do X Y Z well. You throw A B C at them and few will introspect deeply into it.

s1artibartfast 4y ago
Exactly this. You have to run into an individual on the long tail of mechanics that is uniquely curious about finding the root cause, or throw enough money at them that they are incentivized to track down the problem. Doctors are no different than other humans. Your problem isn't necessarily their problem.
- mindslight 4y ago
  Sure, but coming at it from a programming/engineering background, that is a tough pill to swallow. If I'm going to a "professional" and paying them $1k/hour, why the fuck aren't they applying their full intellect to analyze my problem ? If we're supposed to expect front line doctors to be mere rule-applying automatons that just take a few pieces of input and produce outputs like "run common test X" and "apply common drug Y", that's technician-level work that should cost closer to mechanics' shop rates - where it can't just be entirely replaced by automation and self-service.
  - 88913527 4y ago
    Doctors cost so much because there are artificial caps on supply in the US. So much for the hippocratic oath of "do no harm". Fewer doctors decreases access to the medical system which undoubtedly causes harm.
    - nradov 4y ago
      The main cap on the supply of doctors is imposed by limited Medicare funding for residency programs. Members of Congress who control that funding aren't subject to the Hippocratic Oath. https://savegme.org/ https://savegme.org/

janeway 4y ago

I do clinical genomics. Highly recommend you to find a university hospital that can do genomic analysis for you. The IUIS IEI list has ~500 known genes that could be causal if you have some variant in one of these genes. The key is a good bioinformatic interpretation and clinical follow up. There are even some good commercial options that might be able to detect a causal variant. These guys can do it after order via healthcare professional https://blueprintgenetics.com/patients/?group=ordering-patients https://blueprintgenetics.com/patients/?group=ordering-patie... or these guys can do it from home; first the genome sequencing and then the immune panel report https://dantelabs.com/products/autoimmunity-panel https://dantelabs.com/products/autoimmunity-panel Likelihood of finding causal variants has doubled in last 5 years. * IUIS page: https://iuis.org/committees/iei/ https://iuis.org/committees/iei/ * latest version of gene list: https://static-content.springer.com/esm/art%3A10.1007%2Fs10875-022-01289-3/MediaObjects/10875_2022_1289_MOESM2_ESM.xlsx https://static-content.springer.com/esm/art%3A10.1007%2Fs108... * from this paper: https://link.springer.com/article/10.1007/s10875-022-01289-3 https://link.springer.com/article/10.1007/s10875-022-01289-3 Great info also in IPOPI website https://ipopi.org/about-ipopi/mission-and-objectives/ https://ipopi.org/about-ipopi/mission-and-objectives/

dangero 4y ago
Thanks so much for this information I'm definitely going to look into this.
- janeway 4y ago
  Sorry, I added some links in an edit just now - in case you missed them originally.
  - dangero 4y ago
    I ordered a Dante Labs kit actually -- that seems like a solution I can afford and at least then I will have my genome on disk for anyone who wants to see it.
    - 4y ago

AnIdiotOnTheNet 4y ago

> "I'm not sure what is going on here and I don't know how to help you," In my experience even this is significantly better than you'll get out of the average doctor. I'd gladly see a doctor who was willing to say "yeah, something is wrong but I have no idea what" instead of being dismissive.

PragmaticPulp 4y ago

> but nobody has said, "We should consider looking at your DNA to see what's up here. I'm really interested and want to figure this out with you." You could sequence your own genome and use a service to compare it against the ClinVar database that correlates genetic variations with research. Odds are that you won't find anything useful to your specific condition. Most autoimmune issues are acquired, not genetic. With few exceptions, the common genetic variations associated with many diseases can't be used in a diagnostic manner. A genetic variant that increases your odds of contracting a rare disease by 10X might sound significant, but if it's truly a rare disease then you could be going from 0.001% to 0.01% odds. The unfortunate truth is that if your condition doesn't match something that can be diagnosed with the tests available to your doctors, there isn't much they can do to forge ahead with new research on their own. That's the role of researchers, not doctors. And it takes decades to get to the bottom of conditions, if ever. You might have some luck scouring the internet for similar-sounding conditions and groups who research them. Occasionally you can find your way into clinical trials or registered on waitlists for researchers who might need candidates to test.

dennis_jeeves1 4y ago
>Most autoimmune issues are acquired, not genetic You are correct. I see 'gene' blaming when there is no cure, or the underlying reason is not know.

almog 4y ago

While I (probably) don't have an autoimmune disease, in knowing that I'm not the only person that have experienced that sort of helplessness navigating my way through the medical system, without even finding a defining name for the condition in question. I tried searching online for the symptoms only to find very general cases that do not have some of the main characteristics. Quite the same feeling one gets when they search for an error message only to find the source code that raises that exception. :) Sometimes I think the medical issue I'm suffering from is annoying enough but not being able to diagnose it just adds an insult to injury. Is it that I cannot express my problem well enough to find similar cases online? Is this such an obscure case or maybe a lot more people are experiencing it but they just handle it so much better that they don't feel the urge to complain about it? Just to be more specific and less mysterious, I'm suffering from mild chronic joint pains, in pretty much every joint starting from ankle, knee, lower back, neck, elbow and hand. The tricky bit, and the reason I didn't use plural, is that the pains only occur on either left side or right side of my body, but only one side at a time, usually the pains will switch sides (left <=> right) overnight (though not every night). It has low correlation with the intensity and volume of physical activity I'm doing. Blood tests show nothing out of the ordinary, C.T shows that I do have mild case of bulging discs in my back, which would have explained back pains (which I have) but not the issue of feeling them in just one side (along with every other joint in that side). These pains, mild as they are do not respond in any way to NSAIDs. Popping my knuckles (and every other joint you can think of) helps momentarily. If the pain level is above normal, sleeping is affected too (in fact it's almost always affected to some degree), which in turn amplify the pains as poor sleep would do. Nerve conduction tests also revealed nothing and the doctors I've seen couldn't offer any observation. The fact that I have quite an athletic build doesn't help either since doctors note that and assume that I'm doing just fine. In fact though, these pains, which have started in my teenage years and have become worse in my early twenties (I'm in my late thirties now) take a daily toll on me, in terms of sleep, fatigue and my attention span. I'm lucky to have been very healthy in my life other than that, but I feel that I could have done so much better if I didn't have that invisible medical issue affecting me every day.

treeman79 4y ago
Could be microclots. TIAs or mini strokes. They won’t show up on MRIs unless you get very lucky. I kept having stroke symptoms, one sided weakness being the biggest one. 3 years of being told it was clots. A big clot showed up in lung and nearly killed me. Put me on blood thinners and one sided weakness and other symptoms cleared up. They ran genetic tests. I have a clotting disorder, factor 5 Leiden. Plus an autoimmune condition that is known for clotting problems. Even 325mg aspirin will “mostly” stop issues for me.

treeman79 4y ago

I had same thing. Mystery condition. Symptoms started in high school. Doctors always brushed off concerns. 20 years later, Finally body collapsed 2 years and dozens of doctors appointments to finally figure out its autoimmune Sjogrens. Second most common autoimmune after Lupus. However doctors says I can’t have it since I’m male. Took another year to get all the test runs and to start treatment. Doctors fighting at every step. Only when I had drastic improvement from treatment did they finally take me serious. Apparently my situation is typical for Sjogrens.

deleted 4y ago

[deleted]

legohead 4y ago

> Some prescribe me something and say "see if that helps," That's pretty much all they're doing with her, too. They don't seem to be close at all at actually solving her problem. I'd summarize her story as "thanks for your unique blood, it may help us create medical miracles one day. in the meantime, try this new drug, it might do something"

csomar 4y ago

Most doctors, unfortunately, are pharmacological resellers. They get a list of medicines for symptoms and they prescribe it. A surprisingly high percentage of them will prescribe you these medicines regardless of your symptoms or condition. Doctors who have a specialized and sophisticated area of expertise do exist, but they are 1. very expensive and 2. rare and between. tl;dr: most doctors don’t give a flying f— about you or your condition.

bradknowles 4y ago

There are companies out there who have extensive data on which of hundreds of genetic SNPs (single nucleotide polymorphisms) correlate to which conditions that have a genetic component. They take a DNA sample, run it through their assays, and then they give you a sixty (or whatever) page laymen's description of what all your various SNPs mean for you from a medical perspective. They then give your doctor a one hundred (or whatever) page detailed description which can then be used to guide your medical care in a wide variety of areas. For example, there might be three different main SNPs that relate to vitamin B-12. One might relate to how easily your body absorbs it. One might relate to how fast your body consumes it. One might relate to how it is disposed of in your body. And if you have the bad version of each of these SNPs, then that has a huge impact on your life -- because vitamin B-12 turns out to be pretty important (see https://www.mayoclinic.org/drugs-supplements-vitamin-b12/art-20363663 https://www.mayoclinic.org/drugs-supplements-vitamin-b12/art... ). But, there might be things you can do to improve your situation related to vitamin B-12, such as always using the methylated version. And maybe you just need to consume a lot more vitamin B-12 than most people. These are things your doctor can help you with, once they are armed with the DNA data. I'm not going to mention company names here, because we have a connection to the company we've used. And this is an expensive service. So, I don't want to be accused of shilling for this company. But my wife has already had her test. And I'm planning on getting mine as soon as I can. And there are multiple companies in this space. Even if you don't use the same company we have, I think the important thing is that if you have major medical problems that are unexplained or difficult to address, then I think this is the kind of service that you might want to look into.