12 ms·

Nobody Has My Condition but Me

243 points by cocacola1 4y ago

viksit 4y ago
* 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 4y ago
  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".
Vapormac 4y ago
(Non-paywall): https://archive.is/hXnEw https://archive.is/hXnEw
SamoyedFurFluff 4y ago
> 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 4y ago
  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 [...]"
  - dmix 4y ago
    My mom took some medication when she had Macular Degeneration (or maybe it was for something else) and her skin started turning a slight blue tint. Her small town (Canadian) family doctor ended up telling his friend in university and she ended up getting studied by lots of different university researchers/specialists and was even brought in front of a University of Toronto medical class to demonstrate it. So sometimes novel symptoms result in novel research, without personal social signals.
- InitialLastName 4y ago
  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.
  - geraldwhen 4y ago
    It would have made it much simpler to identify a huge cyst, and the fat may have exacerbated or caused the cyst.
    - rondold 4y ago
      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
  - foobarian 4y ago
    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.
dangero 4y ago
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
deleted 4y ago
[deleted]
flobosg 4y ago
Related: The journey of Bertrand, Matt Might’s son, who became the first patient ever diagnosed with NGLY1 deficiency – https://bertrand.might.net/ https://bertrand.might.net/
AnIdiotOnTheNet 4y ago
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.
orzig 4y ago
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?ac=1&from_search=true&qid=Arv2c4Sum6&rank=1 https://www.goodreads.com/book/show/57341765-the-deep-places...
FollowingTheDao 4y ago
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/ 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 4y ago
  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 4y ago
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/ 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.
- daegloe 4y ago
  I can second this recommendation. Matt’s team at UAB helped collect and analyze the latest research and suggest clinical treatments for my son’s rare genetic variant. It’s free and they were great to work with.
- acomjean 4y ago
  There also is the Undiagnosed Disease Network which is NIH funded. https://undiagnosed.hms.harvard.edu/about-us/ https://undiagnosed.hms.harvard.edu/about-us/ I heard a talk from Hugo Bellen which was interesting about this research. And using model organisms to in a sense verify that they're going in the right direction. https://flypush.research.bcm.edu/lab/about-mosc-udn.htm https://flypush.research.bcm.edu/lab/about-mosc-udn.htm I haven't had personal experience, but what I remember from the talk it was clear some mutations where causing over expression which was hard to figure out in the patient.
  - yosito 4y ago
    Is this for people who have symptoms but have not received a clear diagnosis from anyone? Or for people who already have a clear diagnosis of a rare condition?
    - acomjean 4y ago
      my understanding is it’s for people with symptoms but no known diagnosis. Often because the condition is so rare it’s unknown. “At the Clinical Sites, doctors and healthcare providers, like neurologists, immunologists, nephrologists, endocrinologists, and geneticists, come together to help find the cause of participant symptoms. “
tantalor 4y ago
https://en.wikipedia.org/wiki/Idiopathic_disease https://en.wikipedia.org/wiki/Idiopathic_disease
- hinkley 4y ago
  Ideopathic is latin for fucked-if-I-know-itis. I've got at least two ideopathies going on and some friends with chronic pain that nobody can figure out. It sucks. We probably need to test people for toxins in their systems. We are all probably running around with enough of five different things in our bodies that if you swapped them all for one you'd end up in the ER. It's just enough that you feel 'yuck' three different ways but aren't dying.
empressplay 4y ago
Often the condition exists but it's obscure. I suffered for years with crippling spasms, then found out about Stiff Person Syndrome. I asked my doctor for a prescription for a specific muscle relaxant and it's not perfect but I'd say things have reduced by over 50%. But I wish I'd found out about it five years ago!
Alex3917 4y ago
I dunno, it sounds like she just has fairly normal complications from untreated Lyme disease, and the genetic mutation is largely unrelated.
- kortex 4y ago
  I was reading along and thinking to myself "gee, this sounds a lot like Lyme" and sure enough, she mentions she tested positive for it. I imagine the NIH docs would have thought of that already though. I do wonder if there is an interaction between the wonky IgG/IgM and the spirochetes, that could be studied and lead to insights into Lyme.
  - Alex3917 4y ago
    > I imagine the NIH docs would have thought of that already though. I'm sure they did, I think the author just isn't being honest. While I have no doubt the NIH folks are interested in the mutation, that doesn't mean they think it's responsible for the rest of her symptoms. The reality is that if she just took doxycycline as soon as she developed migratory joint pain, she'd probably be completely fine today rather than saddled with all sorts of permanent medical issues. The real story wouldn't make for an interesting article though. She doesn't even discuss why her doctors think her symptoms are related to this mutation rather than the Lyme, which is the tell.
neoyagami 4y ago
Feeling this :( i have lhon, one of the weirdest version ( les than 5% have this one) had to send sample blood to the states to confirm condition :/
Amorymeltzer 4y ago
Just want to note that the author, Beverly Gage, recently published G-Man, an excellent, truly astounding biography of J. Edgar Hoover. I cannot, cannot recommend it enough, it totally changed how I view at least half of the American 20th Century. <https://bookshop.org/p/books/g-man-j-edgar-hoover-and-the-making-of-the-american-century-beverly-gage/18233330 https://bookshop.org/p/books/g-man-j-edgar-hoover-and-the-ma...>
- thundergolfer 4y ago
  She was a guest on Know Your Enemy recently, which is a nice intro to Hoover and the book.
chromatin 4y ago
Oh, PLCG2! Very interesting. Mutation in this gene arises in some cancer patients when they become resistant to a particular targeted therapy. By sheer happenstance, I am involved with an investigational compound that overcomes PCLG2-driven resistance with a targeted molecule that acts downstream of this woman's activating mutation. I've reached out to see if we can help with a compassionate use protocol for this drug.
turrini 4y ago
Well, I'm immune to many poisons, but that is not an advantage in real life 99% of the time, maybe it is on movies.
zoklet-enjoyer 4y ago
My ex has an autoimmune disease called lymphangiomatosis. Biggest issue is tumors in her lungs. It's some bad shit. Doctors thought she just had pneumonia when she first got sick. I really freaked out when COVID came around. I hope she's doing ok. https://rarediseases.org/rare-diseases/diffuse-pulmonary-lymphangiomatosis/?filter=ovr-ds-resources https://rarediseases.org/rare-diseases/diffuse-pulmonary-lym...
- O5vYtytb 4y ago
  My wife has this, she's had half a dozen lung collapses over the last few years as the nodules separate lung from lung wall. Long term it is bad, many people are on oxygen for life. It also affects mostly women, and is likely woefully under diagnosed.
Benjamin_Dobell 4y ago
I sometimes think we'd be better off if we didn't come up with and name catch-all diseases. I've Sarcoidosis, which basically means I have inflammation symptoms similar to other people (~150 in 100,000), but beyond that they've basically no idea what the cause is. All attempts to identify a cause tend to identify common anomalies present in a significant portion of patients - but fairly confidently are not present in all patients. Mycobacteria (which are also mentioned in this article) for example was one such promising theory, but doesn't appear to be the cause for everyone. It's frustrating because rather than doctors saying "I don't know, let's run some tests", it's just "Here, take this drug. It'll probably treat your symptoms." There's basically no reporting on what works for me and what doesn't, and certainly no attempt to identify potential causes - so much wasted data. For example, as is standard practice, my rheumatologist did run a test on me for TPMT levels before prescribing Azathioprine. This is done because TPMT deficiency can lead to severe toxicity and liver damage. My TPMT results were just dandy. Alas, for some reason my liver didn't break down Azathioprine regardless and I experienced toxicity and mild liver damage. Why? Who knows, and no-one cares enough to find out. Nevermind that it could benefit others - just take Methotrexate instead. Why Methotrexate? Well, no idea, it just, kind of works. Good luck with the brain fog.
bigbacaloa 4y ago
From the title I thought the article was going to be about the average American.
TomMasz 4y ago
I have an unusual gene mutation that is basically unknown. There are other mutations in that gene that cause fatal birth defects but not the one I have. It was found as part of a search for the cause of a (non-fatal) condition I've developed as I've gotten older. Luckily, while I'd like to know what's causing the condition and what, if any, implications this mutation has it's mostly an intellectual curiosity, not something around life and death. I wish this woman the best.
blamestross 4y ago
Welcome to the final frontier of medicine: The long tail of wierd stuff. The better we get at solving the more common problems, the more chances we have exist with long tail ones (we get to survive to express them!) and detect them. The problem is that medicine is fundimentally organized in a way poorly equipped to handle intersectional problems that will occupy more and more of the problems that people have...

243 points by cocacola1 4y ago

* 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 4y ago
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".

Vapormac 4y ago

(Non-paywall): https://archive.is/hXnEw https://archive.is/hXnEw

SamoyedFurFluff 4y ago

> 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 4y ago
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 [...]"
- dmix 4y ago
  My mom took some medication when she had Macular Degeneration (or maybe it was for something else) and her skin started turning a slight blue tint. Her small town (Canadian) family doctor ended up telling his friend in university and she ended up getting studied by lots of different university researchers/specialists and was even brought in front of a University of Toronto medical class to demonstrate it. So sometimes novel symptoms result in novel research, without personal social signals.
InitialLastName 4y ago
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.
- geraldwhen 4y ago
  It would have made it much simpler to identify a huge cyst, and the fat may have exacerbated or caused the cyst.
  - rondold 4y ago
    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
- foobarian 4y ago
  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.

dangero 4y ago

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

deleted 4y ago

[deleted]

flobosg 4y ago

Related: The journey of Bertrand, Matt Might’s son, who became the first patient ever diagnosed with NGLY1 deficiency – https://bertrand.might.net/ https://bertrand.might.net/

AnIdiotOnTheNet 4y ago

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.

orzig 4y ago

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?ac=1&from_search=true&qid=Arv2c4Sum6&rank=1 https://www.goodreads.com/book/show/57341765-the-deep-places...

FollowingTheDao 4y ago

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/ 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 4y ago
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 4y ago

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/ 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.

daegloe 4y ago
I can second this recommendation. Matt’s team at UAB helped collect and analyze the latest research and suggest clinical treatments for my son’s rare genetic variant. It’s free and they were great to work with.
acomjean 4y ago
There also is the Undiagnosed Disease Network which is NIH funded. https://undiagnosed.hms.harvard.edu/about-us/ https://undiagnosed.hms.harvard.edu/about-us/ I heard a talk from Hugo Bellen which was interesting about this research. And using model organisms to in a sense verify that they're going in the right direction. https://flypush.research.bcm.edu/lab/about-mosc-udn.htm https://flypush.research.bcm.edu/lab/about-mosc-udn.htm I haven't had personal experience, but what I remember from the talk it was clear some mutations where causing over expression which was hard to figure out in the patient.
- yosito 4y ago
  Is this for people who have symptoms but have not received a clear diagnosis from anyone? Or for people who already have a clear diagnosis of a rare condition?
  - acomjean 4y ago
    my understanding is it’s for people with symptoms but no known diagnosis. Often because the condition is so rare it’s unknown. “At the Clinical Sites, doctors and healthcare providers, like neurologists, immunologists, nephrologists, endocrinologists, and geneticists, come together to help find the cause of participant symptoms. “

tantalor 4y ago

https://en.wikipedia.org/wiki/Idiopathic_disease https://en.wikipedia.org/wiki/Idiopathic_disease

hinkley 4y ago
Ideopathic is latin for fucked-if-I-know-itis. I've got at least two ideopathies going on and some friends with chronic pain that nobody can figure out. It sucks. We probably need to test people for toxins in their systems. We are all probably running around with enough of five different things in our bodies that if you swapped them all for one you'd end up in the ER. It's just enough that you feel 'yuck' three different ways but aren't dying.

empressplay 4y ago

Often the condition exists but it's obscure. I suffered for years with crippling spasms, then found out about Stiff Person Syndrome. I asked my doctor for a prescription for a specific muscle relaxant and it's not perfect but I'd say things have reduced by over 50%. But I wish I'd found out about it five years ago!

Alex3917 4y ago

I dunno, it sounds like she just has fairly normal complications from untreated Lyme disease, and the genetic mutation is largely unrelated.

kortex 4y ago
I was reading along and thinking to myself "gee, this sounds a lot like Lyme" and sure enough, she mentions she tested positive for it. I imagine the NIH docs would have thought of that already though. I do wonder if there is an interaction between the wonky IgG/IgM and the spirochetes, that could be studied and lead to insights into Lyme.
- Alex3917 4y ago
  > I imagine the NIH docs would have thought of that already though. I'm sure they did, I think the author just isn't being honest. While I have no doubt the NIH folks are interested in the mutation, that doesn't mean they think it's responsible for the rest of her symptoms. The reality is that if she just took doxycycline as soon as she developed migratory joint pain, she'd probably be completely fine today rather than saddled with all sorts of permanent medical issues. The real story wouldn't make for an interesting article though. She doesn't even discuss why her doctors think her symptoms are related to this mutation rather than the Lyme, which is the tell.

neoyagami 4y ago

Feeling this :( i have lhon, one of the weirdest version ( les than 5% have this one) had to send sample blood to the states to confirm condition :/

Amorymeltzer 4y ago

Just want to note that the author, Beverly Gage, recently published G-Man, an excellent, truly astounding biography of J. Edgar Hoover. I cannot, cannot recommend it enough, it totally changed how I view at least half of the American 20th Century. <https://bookshop.org/p/books/g-man-j-edgar-hoover-and-the-making-of-the-american-century-beverly-gage/18233330 https://bookshop.org/p/books/g-man-j-edgar-hoover-and-the-ma...>

thundergolfer 4y ago
She was a guest on Know Your Enemy recently, which is a nice intro to Hoover and the book.

chromatin 4y ago

Oh, PLCG2! Very interesting. Mutation in this gene arises in some cancer patients when they become resistant to a particular targeted therapy. By sheer happenstance, I am involved with an investigational compound that overcomes PCLG2-driven resistance with a targeted molecule that acts downstream of this woman's activating mutation. I've reached out to see if we can help with a compassionate use protocol for this drug.

turrini 4y ago

Well, I'm immune to many poisons, but that is not an advantage in real life 99% of the time, maybe it is on movies.

zoklet-enjoyer 4y ago

My ex has an autoimmune disease called lymphangiomatosis. Biggest issue is tumors in her lungs. It's some bad shit. Doctors thought she just had pneumonia when she first got sick. I really freaked out when COVID came around. I hope she's doing ok. https://rarediseases.org/rare-diseases/diffuse-pulmonary-lymphangiomatosis/?filter=ovr-ds-resources https://rarediseases.org/rare-diseases/diffuse-pulmonary-lym...

O5vYtytb 4y ago
My wife has this, she's had half a dozen lung collapses over the last few years as the nodules separate lung from lung wall. Long term it is bad, many people are on oxygen for life. It also affects mostly women, and is likely woefully under diagnosed.

Benjamin_Dobell 4y ago

I sometimes think we'd be better off if we didn't come up with and name catch-all diseases. I've Sarcoidosis, which basically means I have inflammation symptoms similar to other people (~150 in 100,000), but beyond that they've basically no idea what the cause is. All attempts to identify a cause tend to identify common anomalies present in a significant portion of patients - but fairly confidently are not present in all patients. Mycobacteria (which are also mentioned in this article) for example was one such promising theory, but doesn't appear to be the cause for everyone. It's frustrating because rather than doctors saying "I don't know, let's run some tests", it's just "Here, take this drug. It'll probably treat your symptoms." There's basically no reporting on what works for me and what doesn't, and certainly no attempt to identify potential causes - so much wasted data. For example, as is standard practice, my rheumatologist did run a test on me for TPMT levels before prescribing Azathioprine. This is done because TPMT deficiency can lead to severe toxicity and liver damage. My TPMT results were just dandy. Alas, for some reason my liver didn't break down Azathioprine regardless and I experienced toxicity and mild liver damage. Why? Who knows, and no-one cares enough to find out. Nevermind that it could benefit others - just take Methotrexate instead. Why Methotrexate? Well, no idea, it just, kind of works. Good luck with the brain fog.

bigbacaloa 4y ago

From the title I thought the article was going to be about the average American.

TomMasz 4y ago

I have an unusual gene mutation that is basically unknown. There are other mutations in that gene that cause fatal birth defects but not the one I have. It was found as part of a search for the cause of a (non-fatal) condition I've developed as I've gotten older. Luckily, while I'd like to know what's causing the condition and what, if any, implications this mutation has it's mostly an intellectual curiosity, not something around life and death. I wish this woman the best.

blamestross 4y ago

Welcome to the final frontier of medicine: The long tail of wierd stuff. The better we get at solving the more common problems, the more chances we have exist with long tail ones (we get to survive to express them!) and detect them. The problem is that medicine is fundimentally organized in a way poorly equipped to handle intersectional problems that will occupy more and more of the problems that people have...