A Genetic Condition That 21 People Are Known to Have | Hacker News Reader

A Genetic Condition That 21 People Are Known to Have

nytimes.com

70 pointsjs248 comments

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.

>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.

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

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.

Your story reminds of the work of a doctor whose name I can't recall right now. But he basically says that today Doctors over-rely on exams and understate the patient's story and personal explanations, leading to a terrible quality of healthcare, and that the problem will only get worse unless there is a broad push in the medical profession to change that.

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.

And breaks the law in Europe.

BTW, how to report the violation?

Determine the relevant data protection agency (usually at a national level -- if in doubt, it's your country's) and report it to them.

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

Good thing the New York Times isn't in Europe.

But one of the subjects might be.

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.

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.

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

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.

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.

Not medical or genetic expert but I would guess that, considering it seemed to be triggered by happiness, it's a sort of overload on some system in the brain.

The child goes happy -> something overloads -> something shuts down -> recovery to normal

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.

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.

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

Didn't make that claim.

It's not really paywalled. If you hit reader view in Firefox, and perhaps refresh once or twice, you'll see the article.

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.

Which is what?

My comment made more sense before the HN headline was changed. I've edited it to make it less dependent on the exact wording.

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

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.

Then maybe the title should reflect that.

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.

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

So clickbait, in other words intentionally deceptive.

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)

> 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.

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.

> 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.

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

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

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

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.

How VERY well phrased. Thanks.

The NYT’s title for the article is: “Just 21 People Are Known to Have This Rare Genetic Condition. Can You Help Us Find More?”

I can blame the article for forcing me to hunt through it for the name. They could have put it closer to the top.

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.

>that "the U.S. has the best medical system" is a farce.

Does anyone actually try to claim that anymore? It's only "the best" if money is not a concern for you.

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.

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

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