In Amish village, a rural doctor sees the rarest diseases on Earth | Hacker News Reader

In Amish village, a rural doctor sees the rarest diseases on Earth

usatoday.com

This is my father's family doctor and was my doctor throughout my childhood.

He actually birthed me in Viroqua Wisconsin where he spends a few days a week. In the past few years (since they got a new Clinic in La Farge) his time has been pretty exclusive to La Farge and the Amish community. However he still sees my father multiple times a year, who is not Amish.

... Or the doctor in question could just have moved to Dewsbury, in West Yorkshire.

(n the mid-1980s I made an early career mistake and qualified as a pharmacist. I did my pre-registration work at the -- now closed -- district hospital in Dewsbury, a Yorkshire town of roughly 60,000 people. Dewsbury is in a steep valley and the working-class population tended not to travel: according to an older relative who worked there all his life, he knew co-workers who had been born, worked, lived, and retired in Dewsbury without ever travelling more than ten miles away from their birthplace. (Automobiles didn't really become a mass-cultural phenomenon there until the 1950s-1960s.) Cue lots of first-cousin marriages. During the 1970s, a Pakistani immigrant community arrived ... also from an isolated mountain valley town that didn't have much time for exogamy.

The hospital serving a city of 60,000 people shouldn't have a 30-bed cystic fibrosis ward (CF is an inborn error of metabolism) ... but Dewsbury needed one. (CF has a frequency of roughly 1 in 3000 in Northern Europe, so you'd expect 20 living cases in a town the size of Dewsbury: but they wouldn't need hospital beds simultaneously! The local frequency was much higher.) Nor should it have exotic conditions like familial hypobetalipoproteinaemia showing up in the population. Again, Dewsbury had that. In fact, Dewsbury was so notorious for genetic disorders that house officers and registrars training in the relevant fields got rotated there from the big teaching hospitals in Leeds (the nearest big city).

Upshot: if you get geographically isolated communities with religious cultures that discourage exogamy, you get really weird genetic disorders cropping up within surprisingly few generations.

Also in Surrey. A relative worked with visually impaired children, one of them of Pakistani heritage and having albinism, and this kid said one day "it's because we marry our cousins". This is one of those situations where the authorities etc. being all cringey and PC about things harms the very people they are trying to protect.

It's not specific to Pakistan: the same problem tends to be seen in many if not all cultures with a strong dowry tradition. If substantial wealth is transferred with a bride, there's a powerful incentive to marry within the family.

(This used to happen in Europe, but during the middle ages the church banned cousin marriages for political reasons: it stopped the nobility consolidating too much power.)

It was certainly common for a long time in many places, and still is across what's now the muslim world (although I think it long predates Islam). But I'm not sure dowry tradition is quite the right marker, IIRC it's much less common in Hindu tradition (where the pattern was larger caste groups instead).

But it's certainly a way of concentrating power in the family. And presumably, for a very long time, having lots of grandsons of undivided loyalty was important in conflicts with the neighbouring family/tribe... worth the individual fitness cost (and the extra miscarriages etc -- many of these strange illnesses would of course have killed the child).

> still is across what's now the muslim world (although I think it long predates Islam).

It can trivially be seen to have little to do with islam in examples like the House of Habsburg, and the famously ignominous end of the Spanish line. Or orthodox jews (the endogamous set is wider than just a family, but you still see lots of rare genetic conditions crop up, and some jewish communities don't even stray outside of it e.g. Mashhadi jews).

Though it does look related to Arabization.

While first-degree cousin marriage has gotten quite a bit rarer used to be extremely common across the globe, and aside from the middle-east it also remains legal throughout eurasia (except for a few eastern european countries and notably china where it's entirely banned and india where it's dependent on culture and religion) and south america

> IIRC it's much less common in Hindu tradition

It's less common but hardly non-existent: according to Shrikant Kuntla, Srinivas Goli, T.V. Sekher, Riddhi Doshi via wikipedia[0] rate of consanguinous marriage is 25% of indian muslims, 15% for indian hindu, and under 10% for other indians. State / culture presents a much wider spread, from 1.2% in Himachal Pradesh to 38% in Tamil Nadu.

[0] https://en.wikipedia.org/wiki/Cousin_marriage#India

Well, royalty are special and weird, and a drop in the bucket, and prove little. My point was that it was a widespread pre-islamic custom, not one which arrived with the book; the geographical correlation with islam is because (as cstross says) it was largely stamped out in Europe a thousand years ago.

It's my understanding that cousin-marriage was rare among european Jews, but a bit more common elsewhere. (Not sure if as high as the surrounding peoples, not sure.) There are indeed rare and interesting genetic conditions in some Jewish groups, but that's another story.

(Am surprised by Tamil Nadu's 38%, thanks. But certainly north-indians take dowry pretty seriously, while avoiding cousins.)

> (Am surprised by Tamil Nadu's 38%, thanks. But certainly north-indians take dowry pretty seriously, while avoiding cousins.)

Yes, India seems extremely split between the north and the south, northern cultures have disapproved of it or forbidden it forever while southern states much less so.

I wonder how this happened... do you know if it's known? Could it be one of the relics of Buddhism adopted by the ~ Gupta revival, and never made it down south?

https://www.telegraph.co.uk/news/health/children/11723308/Fi...

While British Pakistanis are responsible for 3% of all births, they account for 30% of British children born with a genetic illness.

Cousin marriages in the UK are 1/200 for White couples, but 2/3 for Pakistani couples.

The solution is to ban cousin marriages. It is unfair on the rest of society to have to shoulder the burden of excess healthcare costs, caused by the outdated and harmful cultural practices of immigrants.

* IIRC it's much less common in Hindu tradition (where the pattern was larger caste groups instead).

In Hindu families too it was not that uncommon at all, though this trend has declined in the current generation marriages.

Can you say where this is from? TIL that there's a strong N/S pattern, wikipedia says 0.1 in Delhi in 1980, but an astonishing 38% in TN.

My observation is from southern part of India (more specifically of Karnataka) which also ranks higher in the same cousin marriage (as per wikipedia).

> (This used to happen in Europe, but during the middle ages the church banned cousin marriages for political reasons: it stopped the nobility consolidating too much power.)

Not so much banned it, as restricted it: dispensations were fairly common among the nobility and royalty, who could afford the fees charged by the Church for the privilege.

And not just cousin marriage, either: marriages between uncle and niece were hardly unknown. For an example somewhat after the Middle Ages, have a look at the family tree of Charles II of Spain [0]: his father and mother were uncle and niece, as were his paternal great-grandparents and his maternal great-great-grandparents. He was descended in 14 different ways from Philip I and Joanna of Castile, at a remove of five, six or seven generations. Of his 16 great-great-great-grandmothers, Anna of Bohemia and Hungary was four of them (and also four of his 32 great-great-great-great-grandmothers). And so on.

[0] https://en.wikipedia.org/wiki/Charles_II_of_Spain#Ancestry

I remember reading that the Church in the middle ages was pitted against tribalism. So they tried to make rules to weaken it. One of those was recognizing free consent to marry over betrothals arranged by their families.

Royalty are special and weird, and a drop in the bucket. Overall the ban was pretty successful, it created a world where a few Hapsburgs behaved this way, instead of every guy in a village with three cows to his name.

Their family trees are weird and alien to us because we live in this new world. Whereas I don't think many of his subjects thought that Saddam Hussein's family tree was freak-show material.

Cousin marriage isn’t a specifically Pakistani thing. At the levels it occurs at in the Pakistani community it is basically a Muslim thing though. The only non-Muslim country that falls in the Muslim range is India which has about the same population prevalence as Turkey. Given the much higher prevalence in Pakistan I’d guess that’s almost entirely due to India’s large Muslim population.

See the image on page 3 of this pdf.

https://www.researchgate.net/profile/Ghazi_Tadmouri/publicat...

Consanguinity and reproductive health among Arabs

How did being PC harm anyone in this case? It appears they knew exactly what was doing it and clearly said so?

I'm slightly surprised it's not obvious to you but giving you the benefit of the doubt: if we had had more open discussion/education about the horrible effects cousin marriage can have it might have helped change attitudes in the Pakistani community, but this was apparently resisted due to cringey PC fears about saying anything that might offend said community; the latter evidently a completely legitimate fear given the weaponising of offence by the left. If you still dispute what I'm saying, I'm far from the first to say it - below is from 2005:

'The Labour MP Ann Cryer has called for British Pakistanis to stop marrying their first cousins... Speaking to the Guardian, Ms Cryer said: "I'm not calling for a ban or a change in the law because that would mean changing the law for everyone. I'm simply calling for an enlightened debate. We've avoided discussions on this subject. People are being politically correct.'

> given the weaponising of offence by the left.

Is this left versus right thing? I note that the quote you provide comes from a centre left source.

It really isn't. The "right" has been doing the exact same thing for ages. See the weaponization of anti-semitism allegations by the Republicans (against Ilhan Omar most recently) or Tories (against Corbyn and Labour in general).

It's not a new phenomenon. Before racial/ethnic issues came to the forefront, partisans used religion and other relevant ideologies.

> weaponization of anti-semitism

Labour is the only party apart from the BNP to be investigated over allegations of racism by the Equality and Human Rights Commission.

A fact the Tory media, politicians, and supporters (case in point?) repeat incessantly, despite it being a Labour party matter. That's weaponization.

> despite it being a Labour party matter

This is an internal matter and has no bearing on who might be leading the country in a few weeks and voters don't have a right to know and the Tories don't have a right to point it out? Ok then.

And she was the exception that proves the rule.

I think the implication is that while, even as younger members of that society are figuring out what the root of the problem is, that the departments supposed to be helping with this are too fearful of saying so, for fear (real or otherwise) of being labeled racist/prejudiced.

Link that works in Europe

https://eu.jsonline.com/story/news/special-reports/2019/10/1...

GDPR brought too much hate and it solved too little.

Similar thing going on with the Navajo and xeroderma pigmentosum:

http://archive.pov.org/blog/pressroom/2012/06/sun-kissed-pre...

Attributed to gene-pool shrinkage and/or ancestry mix-ups arising from the "trail of tears."

Don't you mean the Long Walk?

Why y'all downvoting this man? He's right.

The full reference is https://en.m.wikipedia.org/wiki/Long_Walk_of_the_Navajo

The Trail of Tears https://en.m.wikipedia.org/wiki/Trail_of_Tears was other tribes such as the Cherokee, Muscogee (Creek), Seminole, Chickasaw, and Choctaw nations.

It still amazes me that my most down-voted posts are about Native American facts.

I assume most downvoters (not having heard of the Navajo event) thought you were making an inappropriate joke referencing the Stephen King novel of the same name: https://en.wikipedia.org/wiki/The_Long_Walk

Also out of context it sort of sounds like a denial of the suffering and conditions - even if that is the name thet used.

In my experience there was no denial about the travesties but the Trail of Tears and maybe the Black Hills got name checked as events perhaps because of the precedent and disregard for even the Constitution and the Supreme Court in the first and the egregious "kick them off of their own reserved lands for a short term gold rush".

Perhaps folks might like to do a search before making such damning judgements about other HN users.

How someone would jump from a Native American history to Stephen King is beyond me. Assuming an inappropriate joke is also a mystery.

This was a good story. I enjoyed the rural vibe and the simple mechanics: do it because you care, it's right, and it will still be hard.

I remember seeing a documentary--too lazy to look it up now--but it was about the Inuit (or a portion of them) that let a guest sleep with the woman /women in their igloo. At first look, this goes against Darwin, who wants to raise someone else's "bastard" but without it they'd be doomed. So the lesser of evils.

Evolution focuses on populations, not individuals. A lot of things make more sense if you consider that.

On the contrary. Evolution focuses on individuals.

Or lower, on selfish genes™️.

Which can certainly imply doing things bad for the individual but good for their kin group. Although I don't know about this Inuit story.

“selfish gene” is my very least favorite anthropomorphism.

Darwin himself argued for group selection. He postulated that moral men might not do any better than immoral men but that tribes of moral men would certainly “have an immense advantage” over fractious bands of pirates."

https://www.scientificamerican.com/article/whats-good-for-th...

Though the pendulum swings. The case isn't clear-cut, and the argument for group-level selection (or even symbiotic or more general multi-species co-evolution) is strong.

Group level selection is irrefutably a thing (Multicellular organisms are selected as a group. Eusocial insects are too). The only question is how important it is in various contexts, in some it may be negligible.

In humans, even individual selection is pretty negligible as an effect. We breed too slowly, we're too homogeneous, there aren't enough of us, and we don't face anywhere near the kind of selective pressure most species do.

We absolutely face the same degree of selective pressure that other species do. You can clearly see that some people leave many descendants, whereas others leave none. The selective pressure we face is different though. Other species may be selected primarily on ability to extract food from the environment while surviving predation and disease, whereas we are being selected on our desire to have children.

The fact that some people leave many descendants while others do not does not necessarily imply the existence of strong selective pressure, particularly selective pressure for genetically heritable traits. For example, it could be mostly random, resulting in genetic drift that has essentially nothing to do with external environmental factors. By most definitions genetic drift is not natural selection, because it doesn't select for any particular attributes in the species, outside of preserving basic functional requirements (e.g. members of the species must be able to reproduce at a reasonable rate).

"Desire to have children" is a good example of something that does not obviously select for any particular genes. Many people who don't have children (or have only one) simply don't feel they can afford it, or (e.g. in China until recently) live somewhere where having extra children is a liability; while money is indeed heritable, selection against the poor or legally disadvantaged is not natural selection. Similarly, selecting for people who believe in a particular religion that encourages reproduction, etc. These things are not correlated with genetic markers to begin with so this "selective" process will just lead to more drift, or (if the population shrinks sufficiently) result in bottleneck events that lead to even more genetic homogeneity without selecting for any useful traits.

I'm not saying sexual selection isn't a thing, incidentally--but I am saying that there's very little evidence that sexual selection is the primary driver of whether humans reproduce.

This is qualitatively different from "real" natural selection, which requires a combination of any or all of: significant external stressors, significant untapped resources, a lot of generations, and a high population or mutation rate. We can see that humans are not under especially significant selective pressure when we consider that despite huge death tolls and a very strong negative effect on ability to reproduce, it will take a very long time (IIRC, on the order of 1000 years) before a large majority of people in any area of the world are naturally resistant to HIV.

Out of your four claims, zero are true.

I guess you should define what exact mechanism you’re describing when you use the term ‘group selection’. Richard Dawkins would describe the phenomena you mention (multi-cellular organisms and eusocial insects) as cases of the genes which create those complex phenotypes being selected.

Yes.

I think a definition of "group selection" which includes either multicellular organisms or social insects would be extremely unusual, and basically misses the whole debate. Nobody is confused about why oak leaves sacrifice themselves every autumn.

The Pechenga Oak Tree is 2000 years. Imagine a cell line being content playing a support role. For thousands of years. Without trying to spread itself. I find that amazing and mysterious. Unless all long-lived lines in a tree have a shot at spreading?

There must be some interesting game theory to keep everyone aligned for that long.

Cancer is an instance of the tension you’re describing erupting into open rebellion as a lineage of cells starts over-consuming resources to the detriment of the organism (and all the other cell lineages contained in the organism). I’m not sure what your depth of knowledge is with regard to genetics and evolution, but a fruitful google search might be “germ line vs somatic cells”. This tension also exists at the level of DNA, with some fragments of DNA replicating themselves willy nilly all over the genome, rather than merely being replicated through the normal mechanism. And regarding the game theory: I think the typical thinking is that incentives are dependent on the mode of replication. If something replicates only when the organism creates offspring, then it tends to work harmoniously with the rest of the organism to further this goal. If it replicates via a different mechanism, such as a parasite or disease, then it tends to be uncooperative in collective endeavors.

In a group without exogamy, selection for the group is selection for those genes responsible for the complex phenotype that is the group, in a similar but less strict way. This is true even with sufficiently minor exogamy.

Right, but then you don’t need a mechanism other than genetic selection. Because that’s what is typically meant by group selection: that there is an additional selective mechanism that exists aside and apart from genetic selection.

Maybe we are talking past each other then. Because to me group selection is a type of genetic selection.

Then we are in agreement. Typically, group selection is not meant in that way, though. Just an FYI.

Just look at that precise case: a practice that was detrimental to some male genes helped save a population. The people with a practice that favored individual genes went extinct.

Evolution focuses on genes, not individuals or populations.

Similarly such stories circulate about the Hutterites in Canada. I hear you’d better be white looking though

Monkeys and other animals that have strong social structures will do this for similar reasons.

I've heard that too. And it seems that something like that took place [0]. Not "a guest", but "close friend" though.

[0]: "American Anthropology, 1888-1920: Papers from the American Anthropologist" ISBN 0803280084 page 479

I've first heard of this custom while reading Marco polo's "Le livre des merveilles du monde" (The Travels of Marco Polo). IIRC the editor's notes, the custom did exist in some places of the Himalaya mountains.

> The guest may stay and enjoy the wife's society as long as he lists, whilst the husband has no shame in the matter, but indeed considers it an honour. And all the men of this province are made wittols of by their wives in this way.

Source: https://en.wikisource.org/wiki/The_Travels_of_Marco_Polo/Boo...

Western culture says it’s monogamous due to moral and law, but something between 1/4 to 1/2 of the men and up to 1/3 of the women “cheat”. So in terms of genetic diversity it’s the same, we just pretend it doesn’t happen while other cultures don’t see an issue.

There are huge differences in extra pair paternity across cultures and social class. People are not the same everywhere.

https://www.cell.com/current-biology/fulltext/S0960-9822(19)...

A Historical-Genetic Reconstruction of Human Extra-Pair Paternity

Specifically, we observe that estimated EPP rates among married couples varied by more than an order of magnitude, from 0.4% to 5.9%, and peaked among families with a low socioeconomic background living in densely populated cities of the late 19th century. Our results support theoretical predictions that social context can strongly affect the outcomes of sexual conflict in human populations by modulating the incentives and opportunities for engaging in extra-pair relationships.

Well it also depends on perceptions of relationships and monogamy. I don't know of their cultural ideal attitudes towards wives and agency (say she decides who she sleeps with period vs property to be shared spectrum) or actual for that matter but if it is a reciprocal norm it is likely a wash quantitatively. Not to mention survival concerns about having children to care for them in old age.

It reminds me of one joke about ancient Norsemen not caring about blatant signs of infidelity like the children having different skin and hair color so long as their sons were strong.

The link just redirects to eu.usatoday.com's homepage for me :(

This may work:

https://outline.com/4wdE3t

https://web.archive.org/web/20191130183259/https://www.usato...

Colorado City, AZ Is Another great example. It seems if you want to See some weird stuff, closed off religious communities are the place to be.

https://www.bbc.com/future/article/20170726-the-polygamous-t...

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