[HN Gopher] Nobody Has My Condition but Me ___________________________________________________________________ Nobody Has My Condition but Me Author : cocacola1 Score : 68 points Date : 2023-01-27 17:44 UTC (5 hours ago) (HTM) web link (www.newyorker.com) (TXT) w3m dump (www.newyorker.com) | SamoyedFurFluff wrote: | > Far too often, women who present with hard-to-diagnose | illnesses are told that the symptoms are no big deal, that the | problem is in their head. They spend years going from doctor to | doctor, in a desperate search for someone, anyone, who's willing | to help. This has not been my experience. From the first, doctors | took my condition seriously, sometimes more seriously than I did. | | I would love to know what she did to get doctors to take her | symptom profile seriously when she merely presented with the same | vague and often dismissed symptoms of women with complex medical | conditions. I have multiple friends who get told to just get more | fit, despite also having observed cardiac symptoms that worsen to | any exercise. | justusthane wrote: | It might have helped that she works at Yale, and that's where | she initially went for care: | | > "As a professor at Yale, I receive my medical care through | the university's health center, a private bastion of socialized | medicine [...]" | InitialLastName wrote: | Not even complex medical conditions; a friend with stomach pain | issues was being blown off by doctors with "just lose weight" | for a year before she collapsed on the sidewalk. In the | hospital, they removed a 30-lb cyst from her abdomen, but I'm | not sure diet and exercise would have helped with that | particular weight loss. | foobarian wrote: | I wish it were easier to self-test with things like CT, | ultrasonic or MRI scanners. Until I went to the ER with | symptoms that exactly matched a gallbladder condition I was | never before let even near one of those machines, but looking | at the scans the problem was so obvious. I imagine for this | woman the problem would have been obvious too from a simple | scan. | s1artibartfast wrote: | Depending on your definition of easy, it is. It just takes | money. There are private clinics that will do full body MRI | for print event of Medicine and Diagnostics. This level of | personal care is just cost prohibitive for most people | agumonkey wrote: | I'd love to contribute to non invasive medical research in | any way. The risk/cost of medical procedure makes doctors | refuse most of this cases. So you're gatekeeped until it's | too late. | geraldwhen wrote: | It would have made it much simpler to identify a huge cyst, | and the fat may have exacerbated or caused the cyst. | rondold wrote: | yes lol imagine how incredibly obese you have to be to not | know you have a 30lb tumor. its like those women who don't | know they're pregnant but actually even fatter | toolz wrote: | > despite also having observed cardiac symptoms that worsen to | any exercise. | | Isn't this the exact reason they should exercise? I'm sure the | symptoms present worse during exercise, but the exercise itself | will gradually make your body more resilient or even cure many | cardiac issues. I'm unaware of any cardiac disease that gets | worse with some form of exercise, granted there are levels of | intensity in exercise no one should be attempting without | proper conditioning. | PragmaticPulp wrote: | > I have multiple friends who get told to just get more fit, | despite also having observed cardiac symptoms that worsen to | any exercise. | | Clinically, it's rare for people (below retirement age) to have | cardiac conditions that exclude _any_ exercise. | | I don't know your friends' details, but a common pattern in | these situations is for there to be a misunderstanding about | what "exercise" means. If someone is having life-threatening | cardiac symptoms, no reasonable doctor is going to recommend | that they just go to the gym and sweat it out. In the worst | cases, what they're trying to avoid is the deconditioning slide | that comes with chronic illness. The goal isn't to get fit or | go for runs or push to exhaustion. The goal is to slow the | physical health decline that comes with being too sedentary. | | It can be counterintuitive, but doing extremely light activity | (walking 0.1 miles per day, working up to 0.4 miles per day) | can be extremely beneficial compared to avoiding activity | altogether, even if it's uncomfortable. | | Once the fitness is gone, it's hard to get it back. A lot of | patients start out with one condition, which then becomes a | combination of that condition plus a year of deconditioning. | | Physical therapists trained in chronic illness specialize in | these treatments and adapting to the bounds of any cardiac | limits. | smeej wrote: | It sounds like the obviously swollen hand was a big symptom, at | least for the doctor who immediately said, "That's not | rheumatoid arthritis." | | To use the zebra analogy, it sounded like that was the part | where the doctor said, "I don't know wtf this is, but it's not | a horse." | FollowingTheDao wrote: | Exactly. Doctors always see horses. Whenever they see a zebra | they just tell you that it is a horse that you painted with | stripes in your imagination. | sumtechguy wrote: | I have a friend, he gets wild migraines all the time. Dozens | and dozens of doctors over 25 years. All he can say at this | point is what he thinks doesnt cause them. The issue is | diagnosing these sorts of things is tough. You can not exactly | crack someone open and poke around and not possibly break | things plus the cost of time and money. So you mostly look at | the symptoms and hope you can read the tea leaves and get it. | For most things that works pretty good. But get a bit out of | field of what they do and you will have a bad time with most | doctors unless they happen to read the tea leaves correctly. My | mother in law went from 'you have the flu' to 'you have stage 4 | single cell' in under a week and was dead soon after. She went | to the doctor dozens of times about it the months before. We | get this idea that doctors are miracle worker wizards. But | sometimes you feel like they are playing with bear skins and | arrow heads. | FollowingTheDao wrote: | It was painfully easy for me to find my PNP deficiency. | | - I had my genome run my 23andme (twice). - I plugged the raw | data into https://promethease.com/. - I sorted it by frequency. - | Then just researched every rare polymorphism. | | It would be so simple to write an algorithm that does this. | cjbgkagh wrote: | I found my own genetic condition this way. hEDS/clEDS from a | TNXB mutation. I already had a strong indication that I had | this by noticing rare behavior about myself was similar to | other people with TNXB mutations. DNA sequence confirmed it. | The vast majority people with this condition will never get a | positive diagnoses from a doctor no matter how many they see, | but it's clear as day right there in the DNA. | atdrummond wrote: | If you or someone you love has a disorder you believe is | unexplained, reach out to Alabama-Birmingham's Precision Medicine | arm. (https://www.uab.edu/medicine/pmi/) | | It was founded and is run by Matt Might, a computer scientist and | former Obama-admin CTO for the US. He wanted to solve his own | son's medical issues and now is helping others. A family member | works there as a pathologist and while treatments are expensive, | they're also bespoke. And sometimes it's better to have answers, | and a sliver of hope, than nothing at all. | Vapormac wrote: | (Non-paywall): https://archive.is/hXnEw | dangero wrote: | 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." | AnIdiotOnTheNet wrote: | > "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. | minsc_and_boo wrote: | 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 wrote: | 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 wrote: | 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 wrote: | 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. | PragmaticPulp wrote: | > 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. | almog wrote: | 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. | agumonkey wrote: | not knowing is one thing, not taking things just a bit | seriously is a breach of medical professionalism. it's very | common sadly | thewebcount wrote: | 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 wrote: | 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 wrote: | > 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 wrote: | > 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 wrote: | > 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. | WFHRenaissance wrote: | Are you Canadian or something? | atdrummond wrote: | May I ask where you are located, roughly? | | YMMV but I was given genetics tests for my leukaemia, | polycythemia vera and Crohns. All were routine. | | I actually had more issues getting a thiopurine | metabolites test ordered than I did with any of my | genetic tests. | astrange wrote: | 23andme is not a medical-grade genetics test. Finding a | very rare genetic mutation in it isn't convincing unless | you get a specific test for it or do 1000x WGS. | PragmaticPulp wrote: | Genetic testing for specific diagnosable and treatable | conditions are extremely common in the medical world. | | For example, the BRCA gene test is commonly given to | people with elevated familial risk of breast cancer. | | They do not go searching through entire genomes for any | possible variant, though. | | > 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. | | Your other comments said you diagnosed yourself with PNP | deficiency. This is generally a fatal condition in | infants and adolescence unless treated early with | hematopoietic stem cell transplantation. | | I wouldn't rely on 23andMe's SNP analysis as a genetic | diagnosis of anything, especially disorders which are | fatal in adolescence. 23andMe has been known to mis-mark | certain SNPs at various times in the past, and it's not | guaranteed 100% accurate. | | Is it possible that you were a carrier, but not | homogenous for the variant? The condition is autosomal | recessive, meaning you would need to inherit flawed | copies from both parents. Having a single bad copy could | show up in 23andMe but would not indicate that you have | the condition. | | To put it in perspective, the number of cases of PNP | known to the literature in the entire world is less than | 100. | FollowingTheDao wrote: | >Your other comments said you diagnosed yourself with PNP | deficiency. This is generally a fatal condition in | infants and adolescence unless treated early with | hematopoietic stem cell transplantation. | | Just stop please. Why do you think I do not know what I | am talking about? How long have you researched this gene | and have you talked to people who are actively involved | in researching this? | | Only certain p[polymorphisms are fatal for infants. There | are plenty of us living with partial PNP deficiency. | | https://pubmed.ncbi.nlm.nih.gov/32695102/ | | Conclusions: Patients with partial PNP deficiency can | present in the third decade of life with mild-moderate | immune abnormalities and typical development. Near-normal | immunity might be achieved with relatively low PNP | activity. | | > Is it possible that you were a carrier, but homogenous | for the variant? There are many genetic alterations which | do not manifest as disease unless you inherit a broken | copy from both parents. | | I am homozygous for four variants known to effect T | Cells. There is not only one polymorphism that can reduce | enzyme activity, | | rs1049562 rs1049564 - | https://www.researchgate.net/figure/Purine-nucleoside- | phosph... rs1713421 rs1760931 | PragmaticPulp wrote: | If you truly suspect this, it's worth exploring something | other than 23andMe. | | 23andMe is useful, but not known for accuracy. Even their | datasets have known to include mislabeled SNPs in past | years. | | > Only certain p[polymorphisms are fatal for infants. | There are plenty of us living with partial PNP | deficiency. | | > https://pubmed.ncbi.nlm.nih.gov/32695102/ | | The finding in this paper is that partial PNP deficiency | produced normal development in 2 out of 3 siblings and | near-normal immune activity in the 3rd, despite having | only 8-11% of the normal PNP activity. | | The takeaway is that partial PNP deficiency might, in | some cases, present with only mild-moderate immune | abnormalities or normal functioning. | 88913527 wrote: | 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 wrote: | 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 wrote: | Sure, but coming at it from a programming/engineering | background, that is an extremely 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 brain to | analyze my problem ? If we just expect front line doctors | to be mere rule-applying automatons that just take a few | pieces of input and produce outputs like "run standard test | A" and "apply standard antibiotic B", 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 wrote: | 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 wrote: | 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/ | CogitoCogito wrote: | How do you know you have an autoimmune disease? Did those | doctors diagnose you with one and then proceed not to take you | seriously? | dangero wrote: | My issues respond to immune system suppression drugs that are | ill advised for long term use like Prednisone. | minsc_and_boo wrote: | 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. | janeway wrote: | 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-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 | | Likelihood of finding causal variants has doubled in last 5 | years. | | * IUIS page: https://iuis.org/committees/iei/ | | * latest version of gene list: https://static- | content.springer.com/esm/art%3A10.1007%2Fs108... | | * from this paper: | 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/ | dangero wrote: | Thanks so much for this information I'm definitely going to | look into this. | janeway wrote: | Sorry, I added some links in an edit just now - in case you | missed them originally. | thewebcount wrote: | FWIW, I can second this. My spouse is currently in the | process of getting this done. Know up front that you'll have | to fight insurance about it. They won't want to pay for it | because they have no existing framework that says doing | genomic testing will in any way help whatever you have. (And | they're not wrong. It's entirely possible the genome | sequencing won't turn up anything useful.) My spouse's doctor | works at a university hospital as parent mentions. | | The other thing to know is that even once you do get it set | up, it generally takes about 6 months before you get the | results and the consult with the geneticist. And because | there are multiple parties involved, everything moves | glacially and nobody knows what anybody else is doing. It's | frustrating, but I hope that it helps once it's finally | complete. | | There are probably multiple companies that do this testing. | We ended up going with Variantyx[0] because our doctor works | with a geneticist who uses them. | | [0] https://www.variantyx.com | PragmaticPulp wrote: | > My spouse is currently in the process of getting this | done. Know up front that you'll have to fight insurance | about it. They won't want to pay for it because they have | no existing framework that says doing genomic testing will | in any way help whatever you have. (And they're not wrong. | It's entirely possible the genome sequencing won't turn up | anything useful.) | | The whole genome sequencing linked above is $200, plus more | if you want specific reports run against it (rather than | doing it with 3rd party tools). | | $200 can still be a lot of money depending on the | circumstances, but for most of us with tech jobs I'd gladly | pay the $200 out of pocket and get it going right away | while waiting for the glacial process of getting insurance | and appointments coordinated. | FollowingTheDao wrote: | I wish it was this easy. I am on permanent disability. I have | PNP Deficiency which I discovered on my own through two | genetic tests. | | https://rarediseases.info.nih.gov/diseases/4606/purine- | nucle... | | https://mayoclinic.pure.elsevier.com/en/publications/lupus-a. | .. https://www.researchgate.net/figure/Purine-nucleoside- | phosph... | | I suffered for years with a mood disorder which made them | think every thingw as all in my head. I have consistently low | WBC counts and not one doctor care sto look into it. I have | an immune deficiency but all they see is the mood disorder | brought on my the same gene polymorphism. | | https://link.springer.com/article/10.1007/s40263-022-00934-0 | https://link.springer.com/article/10.1007/s10875-011-9593-8 | | Thanks for that link to Dante, I might do it since it has PNP | on their list. | | But I have found that very high dose zinc increases my WBC | and I think it is because it helps stimulate PNP | | https://pubmed.ncbi.nlm.nih.gov/1906845/ | https://academic.oup.com/nutritionreviews/article- | abstract/4... | | But no one gives a sht about freaks like us. If they invested | $100k when I was first sick they would have saved the 20 | years of money they gave me for diability. It is so idiotic I | hate it. | flobosg wrote: | Related: The journey of Bertrand, Matt Might's son, who became | the first patient ever diagnosed with NGLY1 deficiency - | https://bertrand.might.net/ | orzig wrote: | I've been blessedly free of chronic illness myself, and found The | Deep Places to be a good window into the shortfalls of the | medical response (including being written off as nuts), even by | someone who should have a tremendous amount of privilege (White | male New York Times columnist) | | https://www.goodreads.com/book/show/57341765-the-deep-places... | [deleted] | AnIdiotOnTheNet wrote: | Echoing others who are saying they can't imagine a doctor ever | going to these lengths, I might never have been diagnosed with | hypothyroidism if it hadn't been for an airport toll booth | attendant. I've told the story in full elsewhere, but the short | version is I saw doctors for two years who told my mother I was | just fat and lazy and needed to get outside more. I have since | encountered plenty of arrogant and dismissive doctors. | viksit wrote: | * in the US. | | I find it a bit concerning when articles like this assume that | all 7 billion people have had the resources to get the kind of | check ups that would have their samples in a global database of | genetic mutations. | jaggederest wrote: | Well, at least for the kind of de novo mutation that the | article is talking about, it's vanishingly unlikely that anyone | has the same exact mutation. It looks at a cursory glance like | the gene in question is ~180k base pairs long, so the idea that | someone else also has this (potentially fatal) truncation in | the same spot is really unlikely. Especially if the mutation | would be fatal if it were misplaced a bit. | | It's also a bit of misdirection, since the net effect is "half | of your PLCG2 expression is turned off", which is probably also | represented in that 60 similar patients the article talks | about. So it's technically true but almost certainly something | that other people have as far as a "half knockout of gene XYZ". ___________________________________________________________________ (page generated 2023-01-27 23:00 UTC)