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A Genetic Condition That 21 People Are Known to Have
- phyzome 8y agoThe genetic condition in question is paroxysmal dyskinesia, if you don't want to scroll 60% of the way through the article to find out.
- egfx 8y agoWhich is what?
- tw1010 8y agoYou 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 8y agoThen maybe the title should reflect that.
- tw1010 8y agoYou 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 8y ago> mostly as a reason to click, with vauge connection to the body So clickbait, in other words intentionally deceptive.
- zaarn 8y agoA 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 8y ago> 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.
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- js2 8y agoThe NYT’s title for the article is: “Just 21 People Are Known to Have This Rare Genetic Condition. Can You Help Us Find More?”
- phyzome 8y agoI can blame the article for forcing me to hunt through it for the name. They could have put it closer to the top.
- phyzome 8y agoThe 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 8y agoAnd breaks the law in Europe.
- dottedmag 8y agoBTW, how to report the violation?
- pluma 8y agoDetermine the relevant data protection agency (usually at a national level -- if in doubt, it's your country's) and report it to them.
- TotempaaltJ 8y agoGenerally, the rule is to complain with the NY Times first.
- stonemetal 8y agoGood thing the New York Times isn't in Europe.
- jacquesm 8y agoBut one of the subjects might be.
- jchw 8y agoI'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.
- ahansen 8y agoIt 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.
- GW150914 8y agoWow, 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 8y ago>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 8y agoSorry to hear that. I've had a very similar set of experiences. It's very frustrating.
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- danbolt 8y agoI 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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- tomxor 8y agoI'm guessing it's been ruled out but how does this differ from narcolepsy? it looks pretty similar to my amateur observation.
- tomxor 8y agoOh how dare I ask a relevant question... FU anonymous downmodder.
- princekolt 8y agoThis is literally in the article. > When Kamiyah’s mother revealed that Kamiyah’s grandmother has narcolepsy, the possibility that the child had inherited that disorder was raised. Narcolepsy is a rare disorder that causes excessive daytime sleepiness and can induce something called a sleep attack, where sleep can come on suddenly, often at inappropriate times. In addition, most of those with narcolepsy experience something known as cataplexy — sudden transient muscle weakness episodes often caused by strong, usually positive, emotions. The fact that Kamiyah had most of her episodes of weakness when she was happy was suggestive of cataplexy. But her mother dismissed the questions of daytime sleepiness — she was a very active child — and the sleep studies weren’t consistent with a diagnosis of narcolepsy. None of the other tests were revealing either, so Kamiyah and her mother left the Mayo Clinic the same way they had come, without a diagnosis.
- tomxor 8y agoThanks, that quote would have been a nice response. Perhaps in a different forum it would even have seeded a sub-discussion by those who know about the details of that condition. > This is literally in the article. Noted. After about 2k words and a video into the article. I will no longer ask open questions out of fear of not having dedicating at least 30 mins of my life to each article.
- brainless 8y agoA 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 8y agoNot 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.
- zaarn 8y agoNot 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
- roadnottaken 8y agoHow 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 8y agoMaybe it's under some biotech company's NDA? But I agree that it's silly to ask for help and then withhold information.
- dockthis 8y agoThe 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.
- lightbyte 8y ago>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.
- dsfyu404ed 8y agoThere'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.