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A Spanish teen’s genome may hold the secret to lupus

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Re: A Spanish teen’s genome may hold the secret to lupus

#51

Post by josu »

PragmaticPulp wrote: post #9
resonious wrote: post #8

My mother had Lupus. It's kind of another "American medicine failure" story. She'd go to the doctor's office and get berated for being a painkiller junkie even though she never once asked for painkillers. Doctors would just look at her record and assume. When she finally did get a doctor that tried to help, she got put on this weird steroid that made her body a little stronger but at the cost of some brain fog. She w…

Sorry to hear about the negative experience. When helping a family member through some health problems long ago, I learned that many of the primary care doctors that are easiest to get into are also some of the worst for dealing with complex problems. It makes sense when you think about it - Doctors who provide poor care or who assume the worst from the patients are the least likely to retain patients and therefore t…

Heuristics That Almost Always Work

(...)

The Doctor

She is a primary care doctor. Every day, patients come to her and says “My back hurts” or “My stomach feels weird”. She inspects, palpates, percusses and auscultates various body parts, does some tests, and says “It’s nothing, take two aspirin and call me in a week if it doesn’t improve”. It always improves; no one ever calls her.

Eventually, she gets sloppy. She inspects but does not palpate. She does not do the tests. She just says “It’s nothing, it’ll get better on its own”. And she is always right.

She will do this for her entire career. If she is very lucky, nothing bad will happen. More likely, two or three of her patients will have cancer or something else terrible, and she will miss it. But those people will die, and everyone else will remember that she was such a nice doctor, such a caring doctor. Always so reassuring, never poked and prodded them with needles like everyone else.

Her heuristic is right 99.9% of the time, but she provides literally no value. There is no point to her existence. She could be profitably replaced with a rock saying “IT’S NOTHING, TAKE TWO ASPIRIN AND WAIT FOR IT TO GO AWAY”.

(...)

https://astralcodexten.substack.com/p/heuristics-that-almost...

Re: A Spanish teen’s genome may hold the secret to lupus

#52

Post by Cthulhu_ »

gadders wrote: post #48
valtism wrote: post #18

I've been quite interested in auto-immune diseases lately. I have a friend with fibromyalgia which latest tests[1] have shown to potentially be an auto-immune disease. The symptoms are similar to lupus, and also similar to what I hear people report as long covid. I don't have a background in medicine, but these all seem related and are all poorly-understood and treated. It is frustrating to watch as those affected ha…

The NHS seems to think that Fibromyalgia is more mental than physical. [1] Anecdotally amongst my facebook friends the people that do have it also seem to be the people that self-report mental health struggles and anxiety. It seems to be much like ME in that regard. [1] https://www.nhs.uk/conditions/fibromyalgia/

It's in part because of a lack of knowledge as to what it is; it's a disease without an obvious cause, nor an obvious cure. They can't cure it, but it seems that physiotherapy and mental health care seem to help... a bit? But honestly it comes across to me as them trying to make you no longer think of it as a disease, that is, to just accept it and take it as it comes. Which is shit imo.

The condition is also one for which there is no test; it's one that is diagnosed via exclusion.

Re: A Spanish teen’s genome may hold the secret to lupus

#54

Post by JTbane »

treeman79 wrote: post #10
PragmaticPulp wrote: post #9

Earlier quoted context omitted.

Sorry to hear about the negative experience. When helping a family member through some health problems long ago, I learned that many of the primary care doctors that are easiest to get into are also some of the worst for dealing with complex problems. It makes sense when you think about it - Doctors who provide poor care or who assume the worst from the patients are the least likely to retain patients and therefore t…

Chronic illness, and various autoimmune forums on Facebook / Reddit are great resources for learning. What tests to get. What sort of doctors to see. What works and doesn’t work. Tips dealing with doctors.

Sounds like a great place for hypochondriacs to hang out.

Re: A Spanish teen’s genome may hold the secret to lupus

#55

Post by gadders »

Cthulhu_ wrote: post #52
gadders wrote: post #48

Earlier quoted context omitted.

The NHS seems to think that Fibromyalgia is more mental than physical. [1] Anecdotally amongst my facebook friends the people that do have it also seem to be the people that self-report mental health struggles and anxiety. It seems to be much like ME in that regard. [1] https://www.nhs.uk/conditions/fibromyalgia/

It's in part because of a lack of knowledge as to what it is; it's a disease without an obvious cause, nor an obvious cure. They can't cure it, but it seems that physiotherapy and mental health care seem to help... a bit? But honestly it comes across to me as them trying to make you no longer think of it as a disease, that is, to just accept it and take it as it comes. Which is shit imo. The condition is also one for…

Yeah, it's hard to discern if they are offering those items as a cure, or as a coping strategy.

Re: A Spanish teen’s genome may hold the secret to lupus

#56

Post by FollowingTheDao »

resonious wrote: post #8

My mother had Lupus. It's kind of another "American medicine failure" story. She'd go to the doctor's office and get berated for being a painkiller junkie even though she never once asked for painkillers. Doctors would just look at her record and assume. When she finally did get a doctor that tried to help, she got put on this weird steroid that made her body a little stronger but at the cost of some brain fog. She w…

You Mom's story is so sad and it is why I do not go to doctors anymore. My mother probably had lupus as well that went undiagnosed her hole life. We have all the same symptoms but she died before I was diagnosed.

I have lupus. I am on disability for it mostly because of the neuropsychiatric issues. It took 35 years for them to diagnose me and it was the doctors who figured it out, it was because of my own investigations. When I look at these drugs I asked them "can I do the same with diet and environmental changes", they said no. I proved them wrong. I still have flare ups and they are sometimes unpredictable. Just three days ago I had a psychotic episode from COVID, and stress can set me off as well, but the constant pain is not there and my WBC is up and my panels are usually negative.

The biggest problem my mother and I had was that we had neuropsychiatric lupus which meant they they only saw the mental illness and refused to look at other issues. I had constant low WBC, hyperkalemia, leukopenia, discoid lupus, and arthritis but all they ever saw was the metal illness.

So I mostly proved them wrong. For most people with Lupus, it can be overcome with diet and environmental changes.

So, back to the article. I hate articles like this. Lupus is a highly polygenic disease. I have my genetics, I have some SNPs in TLR7 gene at ~10% for europeans. But I feel my Lupus is mostly caused by several purine nucleoside phosphorylase (PNP) SNPs.

https://pubmed.ncbi.nlm.nih.gov/28859258/

But it does not end there, I see STAT4, IL10RB, TNFAIP3 and mutations that probably play a role.

But how is it my diet can negate all these SNPs? Why do some people with these SNPs not get Lupus.

For me, this is where diet and my FADS1 and FAD2 genes play a role. Ever since I started eating only fish and shellfish, and zero plant oils but for some olive oil I have been way more stable than any drug they gave me.

https://www.lupus.org/news/study-shows-omega3-fatty-acid-sup...

I thought being vegan would help when I was younger but it made me worse.

So while that kid is interesting it makes it seem like there is nothing the rest of us can do who do not have these rare point mutations. TLR7 mutations do not cause every case of Lupus.

Re: A Spanish teen’s genome may hold the secret to lupus

#57

Post by FollowingTheDao »

ad404b8a372f2b9 wrote: post #42
Mordisquitos wrote: post #40

Earlier quoted context omitted.

I'd never heard that, but it sounds to me like the other side of the same coin regarding what's commonly said of men: that they delay going to the doctor for too long as symptoms progress, or even don't go at all unless insisted upon. It could be that, on average, doctors become accustomed to the idea that when a man visits them it must be very serious, and therefore when they are visited by women they generally disp…

Men get routinely ignored, disrespected and misdiagnosed as well. The doctor-patient relationship is adversarial (when facing someone you don't already know), what matters is not what they choose to give you, it's what you can take from them. This is why people who are more assertive and confident will generally do better, as well as people who come in groups.

Yes, I am a man with Lupus, they ignored my lab test results for 35 years before I forced them to give me a Lupus panel to get me to a rheumy.

Re: A Spanish teen’s genome may hold the secret to lupus

#58

Post by treeman79 »

JTbane wrote: post #54
treeman79 wrote: post #10

Earlier quoted context omitted.

Chronic illness, and various autoimmune forums on Facebook / Reddit are great resources for learning. What tests to get. What sort of doctors to see. What works and doesn’t work. Tips dealing with doctors.

Sounds like a great place for hypochondriacs to hang out.

This is a very hateful stance.

Re: A Spanish teen’s genome may hold the secret to lupus

#59

Post by FollowingTheDao »

ranger_danger wrote: post #37
stephen_g wrote: post #28

Earlier quoted context omitted.

The inflammation associated with Lupus should show up in blood tests (CRP and ESR) while it's flaring, as it does in other autoimmuine diseases. (Those markers are super non-specific and all sorts of things can raise them, but it is a measurable data point).

You can get also get an ANA test for lupus.

An ANA can be negative even if you have Lupus. It is rare, but his is one the the problems? Is it rare because it is rare or because they are not testing for it?

https://www.hopkinslupus.org/lupus-tests/lupus-blood-tests/

"In fact, only 2% of people with lupus will have a negative ANA. People with lupus who have a negative ANA test may have anti-Ro/SSA or antiphospholipid antibodies."

The current protocol is that if your ANA is negative they will not look any further. See figure 2: https://ard.bmj.com/content/78/9/1151

Re: A Spanish teen’s genome may hold the secret to lupus

#60

Post by FollowingTheDao »

valtism wrote: post #18

I've been quite interested in auto-immune diseases lately. I have a friend with fibromyalgia which latest tests[1] have shown to potentially be an auto-immune disease. The symptoms are similar to lupus, and also similar to what I hear people report as long covid. I don't have a background in medicine, but these all seem related and are all poorly-understood and treated. It is frustrating to watch as those affected ha…

Exactly. They are so focused on trying to categorize the symptoms that if it does not fit in any known pattern they just shrug and say it is all in your head. This has a lot to do with insurance coverage but also the training of doctors.
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