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.
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.
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.
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.
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.
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.
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 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.
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
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.
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.
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.
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.
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.
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.
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.
> 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.
Thanks, 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.
