
A Genetic Condition That 21 People Are Known to Have - js2
https://www.nytimes.com/interactive/2018/08/23/magazine/netflix-diagnosis-series-kamiyah.html
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GW150914
Wow, she’s lucky that she saw so many good doctors, I think a lot would have
ignored the EEG results and just assumed that it had to be psychomotor
epilepsy. When you add in that some forms of her disorder (Paroxysmal
Dyskinesia) respond well to anticonvulsants, I think it’s entirely possible
that she could have gone a very long time misdiagnosed as a poorly controlled
epileptic. Her parents and doctors deserve a lot of credit.

~~~
theprotocol
>I think it’s entirely possible that she could have gone a very long time
misdiagnosed

Indeed. I have certainly been misdiagnosed with _something_ for 20 years now.
Over time I have found many little things that help, and they have added up
enough so that I can function like a normal human being now.

It's nearly impossible to get past the "it's psychosomatic" barrier most
doctors have. They managed to convince me of it once, and I accepted
psychiatric management for several years, which led to an exponential
worsening of my obviously (or so you'd think) very physical condition until I
decided to end that approach after an entire team of specialists were stumped;
towards the end, one dared suggest: "I think there's actually something wrong
with his stomach..." and around that time I decided to get out of there.

Many doctors completely shut down after a certain, usually very low, threshold
of tests. Most shut down after ordering 2 sets of tests and not finding
anything definitive; beyond that point they become 100% confident it's in my
mind, and replace their respectful tone with a condescending one, with
accusatory implications like "you went and made us do a CT scan and there was
nothing!"

I wish, like in the case described in this article, my parents acted as my
champions when it hit at age 11. Instead they deemed that my needs were
excessive for my lowly social status and thus should stop bringing it up to
them. Characterizing my demands as a form of misconduct served as a pretext to
shut me down, with force if I were to insist.

~~~
jamesrcole
Sorry to hear that. I've had a very similar set of experiences. It's very
frustrating.

~~~
bonesss
As tech workers I think we're pretty in-tune with how it feels to talk with
people who are wildly incompetant in your field of expertise... It's kinda
shocking, though, how crap it feels to meet condescention and dismissal when
dealing with intense personal ailments.

Second opinions, doctor hopping, bringing along your spouse/parent to argue...
it's a sad reality, and a sad necessity.

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phyzome
The submission form at the end where you can submit a recording of yourself
describing the diagnosis (still not entirely sure what that means) if you know
someone with this condition has this radio selection:

"I agree to share my submission with Lightbox for possible use in an upcoming
Netflix documentary."

    
    
      [x] Yes
      [ ] No
    

Pre-marking something like that in the direction of consent is... rather
unfortunate, especially when it comes to medical information.

~~~
jacquesm
And breaks the law in Europe.

~~~
dottedmag
BTW, how to report the violation?

~~~
TotempaaltJ
Generally, the rule is to complain with the NY Times first.

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ahansen
It sounds interesting, but I hate that they resort to clickbait style titles.
If the information is that important then at least it deserves a more
descriptive title. At least the HN title has been updated.

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roadnottaken
How could they not-even mention which gene is mutated? I'm a biologist and it
was the only piece of info I wanted. The video even asks if you know anyone
with this gene mutation, but doesn't say what the mutation is.

~~~
M_Bakhtiari
Maybe it's under some biotech company's NDA? But I agree that it's silly to
ask for help and then withhold information.

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danbolt
I found the video of Kamiyah heartbreaking to watch for her as well as a lot
of sadness for her mother. I really hope they can do more to make things more
manageable.

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brainless
A non-medical person's question:

Can someone please explain how a genetic mutation "might" work in this case?
What could be the possible sequence of information or instruction that a
paralysis strikes and then goes away?

I am really puzzled that paralysis can go away like this. Perhaps it leads to
clues for usual paralysis situations. Sorry, totally not into this science.

~~~
varlock
Not a geneticist either, but this is something the book "The Gene" by
Mukherjee can explain.

Quoting from the book (chapter "Regulation, Replication, Recombination"): "A
gene, in short, possessed not just information to encode a protein, but also
information about when and where to make that protein" ... "Proteins act as
regulatory sensors, or master switches, in this process — turning on and
turning off genes, or even combinations of genes, in a coordinated manner."

So you have a feedback loop, whereby a gene encodes a message to build a
protein that regulates a gene. To get back to your original question, a
mutation might encode a different protein which might react to some
environmental changes to produce a change in behavior.

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jchw
I'm moderately amused. The tagline of this article is "can you help us find
more [people with this condition]?" \- but as it turns out, I can't, because
I'm paywalled and can't read this article. There's probably something to be
said about this.

~~~
briandear
The New York Times is not a public service, nor a non-profit.

~~~
jchw
Didn't make that claim.

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phyzome
The genetic condition in question is paroxysmal dyskinesia, if you don't want
to scroll 60% of the way through the article to find out.

~~~
tw1010
You can't blame the article for being filler when clearly it serves more
purposes than just informing you about the name of the condition. Another
purpose of the article is to ask for help from the public, which is the goal
the first 60% serves.

~~~
Aaargh20318
Then maybe the title should reflect that.

~~~
tw1010
You can wish newspaper titles would work like wikipedia articles (like a
reference to a core concept in the body of the text), and you can evaluate
articles based on that wishful metric. Or you can evaluate articles based on
how well they serve the purpose titles normally functions (mostly as a reason
to click, with vauge connection to the body). To penalize articles based on
the former metric is a sort of political stance incentivizing a state of
nature you want the future to look like, but it's not what writers are
presently are optimizing for.

~~~
Aaargh20318
> mostly as a reason to click, with vauge connection to the body

So clickbait, in other words intentionally deceptive.

~~~
zaarn
A reason to click with vague connection to the body is not naturally
deceptive.

It's how all titles work. "Harry Potter and the Deathly Hallows" doesn't tell
you terribly much about the book either, but if you read the previous book you
know shit's gonna hit the fan.

A title intentionally leaves out the details because they want you to read the
body, that has and will always be the purpose of a title.

Clickbait on the other hand is a title that actively seeks to get people to
click where the title isn't connected to the body but the body is just an
expansion of the title or not simply something entirely different. (see: any
content from BuzzFeed)

~~~
Aaargh20318
> A title intentionally leaves out the details because they want you to read
> the body, that has and will always be the purpose of a title.

But the purpose of an article should be to inform the reader, not to get them
to read the article. A title should reflect the content so I can make an
informed decision on wether or not this particular item is relevant to my
interests instead of trick me into reading it.

~~~
zaarn
An article can be both engaging and informing, in fact, I would argue that an
engaging and informative article is better than a purely informative article
since more people read it.

A good title should enable you to make that decision but ultimately it's
intention is to engage not inform, it's too short to inform. A title is _NOT_
a reflection of the article.

If you aren't interested in genetic disease and/or don't have one and/or
aren't interested in rare diseases, you can easily not read this article.

~~~
Aaargh20318
> If you aren't interested in genetic disease and/or don't have one and/or
> aren't interested in rare diseases, you can easily not read this article.

But I _am_ interested in that. I, however, am _not_ interested in some human-
interest fluff piece.

~~~
zaarn
What would you change the title to, such that it fits your own guidelines?

~~~
Aaargh20318
Something like "a girl's struggle to get diagnosed", which is what the article
is about.

~~~
zaarn
That's rather vague and leaves out that it's a rare genetic disease.

~~~
Aaargh20318
But the article isn't about the disease, it's about the struggle for
diagnosis. What disease she eventually turned out to be diagnosed with is
almost an afterthought inn the article, despite what the original title
implies.

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dockthis
The fact that this mother has to resort to soliciting via news if any other
parent has a child suffering from the temporary paralysis condition instead of
the doctors doing it proves that "the U.S. has the best medical system" is a
farce.

~~~
dsfyu404ed
There's 21 people known to have or have had (I assume not all are living)
disease. 21, ever, in the whole world.

You're going to have a hell of a time getting anyone to dedicate resources to
this anywhere but likely a harder time a harder time getting resources
dedicated to this in a market where treating a rare disease is not as
lucrative. Whether it should be as lucrative as it is in the US is a different
discussion. Of course she made a public appeal. It opens up the possibility of
raising that number to more than 21 and if some pharma company has a stack of
cash they want to burn on PR they can use that stack of cash to try and help
make progress toward understanding this disease in a suitably visible way.

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tomxor
I'm guessing it's been ruled out but how does this differ from narcolepsy? it
looks pretty similar to my amateur observation.

