[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".
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