#Rare Diagnosis

[thateclecticbitch]

Prodigiously bendy bitch disease.

[wheelie-sick]

ILY people who are continually wrong about their self diagnoses

being right about self diagnosis isn't what makes self diagnosis okay. it's a process, and you're learning. it takes time to find answers and just like doctors can be wrong in their suspicions so can you.

figuring out what condition you have is hard and I'm proud of you for taking steps towards finding the right answers. being wrong is okay and is even a valuable part of the process of ruling things out. sometimes it's not a horse, sometimes you're just a zebra, and you can't know you're a zebra without making sure you're not a horse first.

[fluffydice]

Kusuo liking aliens and Kusuke liking robots because of relating to the feeling of faking humanity when you’re around others (autism joke here)

[anghraine]

I know this isn't only an autistic thing or always an autistic thing, but over the least few years, I've realized that a lot of my difficulties with humor are not actually with humor itself. If anything, there are specific kinds of humor that really work for me and I end up laughing so much harder and longer than everyone else that it's uncomfortable or embarrassing.

But a lot of popular humor fundamentally relies on saying things that aren't true. Sometimes this is drastic exaggeration, sometimes it's OTT parody that is far more about Being Funny than about the actual thing being parodied, and often it's flatly false and that's what is supposed to be funny about it. And yes, that's a humorless and ungracious way to describe that kind of humor—I don't mean to say that this is objectively bad or something.

I even understand the jokes intellectually. But in the vast majority of cases, there is something deeply unfunny to me about jokes reliant on something that is either obviously untrue or which I firmly disagree with.

I've seen quite a few posts recently about how, in online fandom, mocking your faves or being amused at other people mocking your faves is an important part of fandom culture. But for me, jokes about my faves based on things they actually said or did, or qualities they clearly possess, can be very funny, while jokes that are based on misrepresentations—even obvious, it's-all-in-good-fun-and-we-all-know-the-truth misrepresentations—are tedious at best.

For an easy example: Anakin and Luke Skywalker are two of my main Star Wars faves. Jokes about sand or Anakin mass-murdering children in his good phase or Luke being far less concerned than Han over the revelation of who his twin is or "it's not faaaaair" can still be really funny to me when told right. Jokes about Anakin obviously mind-tricking Padmé or Luke being obviously an eternally optimistic loser twink are intensely annoying to me regardless of context or delivery, not because they're comparably objectionable or anything but because they're not true.

Functionally this does cut out a lot of humor—especially online humor—but it's not that I literally don't understand it. I get it. I just don't get it.

[trans-axolotl]

genetic counseling appointment went really well 👍 she ordered a full intersex variations panel, a specific cyp21A2 test, and a chromosomal microarray. so hopefully within the next month or two i'll finally get confirmation on what exact diagnosis and subtype i have instead of my doctors saying "well we know you have a DSD but idk what type oh well" forever and ever!!!!!

[cbirt]

A newly developed AI model called popEVE shows promising results for accelerating the diagnosis of rare genetic disorders by predicting which mutations in a patient’s genome are most likely to cause severe disease. The model was created by researchers at the Harvard Medical School, USA, and deployed on genome data from over 31,000 patients with rare developmental disorders.

Genetic testing has become an invaluable tool for diagnosing rare diseases. However, even when a patient’s entire genome is sequenced, interpreting the results can be extremely challenging. Each person has around 4-5 million genetic differences compared to the reference human genome. The vast majority of these variants are benign, while only one or two may actually be causing the disease. This creates a major bottleneck in connecting patients’ symptoms to an underlying genetic cause.

Computational prediction methods can help prioritize candidate mutations, but they struggle to compare variants between different genes on the same scale.

Continue Reading

[millerflintstone]

Gigabyte needs to buy a lottery ticket.

To date (as of 2022),  49 cases of feline PHA (Primary Hyperaldosteronism) have been reported, and it may be the most common adrenocortical disorder in this species.

I don't know if she's #50. Her vet said that there have only been 4 diagnosed in the past 6 years, but I'm guessing she meant in general. I initially thought she meant just GA.

[anomalousmancunt]

begging USians to realize their experiences are not only not universal, but extremely rare in comparison to basically the rest of the world. Brits too, actually. specially regarding disability and chronic illness.

[theautismcorner]

Love it when I get a new doctor and they basically say “nuh uh” to my prescription request bc my chronic illness that I take them for is so rare that there is no treatment plan other than the one that took me and like 12 doctors years to figure out and formulate and they don’t bother to read my medical records to see that i genuinely do need those antibiotics to stay out of the hospital

[girldadbuckley]

i know i'm not a medical professional but i simply could not imagine withholding a diagnosis because your 5 year old patient's mother doesn't fully understand the condition

[izvmimi]

so the funny thing about radiology as a specialty especially in the training is because you're doing outright diagnosis and constantly generating reports, you can much more quickly get very like blatant and obvious feedback if your attendings think you're an idiot cuz you can get a flat out WRONG on your report so the day after every shift i check all of my previous reports from the night before to see if the attending and i are in agreement and like it's kind of incredible cuz my heart races like i'm taking a fucking exam every time and i'm like a grown adult lmfaooooooooooo

i will say unlike getting a d on an exam, the outcome can be like... death so it makes sense for me to be stressed but man oh man

[tommyssupercoolblog]

Yesterday i saw a comment where someone said that d//$m//-p alters aren't real because systems have to be truamagenic....which, my support of endos aside- we're a truamagenic system and I'm still here. Being truamagenic doesn't even stop those alters from forming. They argued however, that these things were mutually exclusive, because only endogenics would have those alters because they'd have to "literally be a baby" to split...

.....DESPITE the fact that people with DID/OSDD can split alters way, way later in their lives than the first initial split. The first one is caused by childhood trauma, but they can and do continue depending on circumstances and the system in question, as well as other traumas that happen later since ur brain is ALREADY plural.

Something you gotta remember- and that this blatantly reminded me of- is that people usually form the prejudice FIRST and then find evidence/arguments to support it. This is why forwarding studies or taking apart arguments doesn't work esp when someone is trying to exclude someone else- they're "protecting" themselves from the people they don't like and using any means to do it. They've already made the decision not to include them because they don't like them, and they are finding resources they can use to do that. It's not about evidence, so really you just have to distance yourself from it and remember that there isn't a fight here- it's not worth jumping into battle when they simply aren't going to listen.

You deserve better than that. Just keep moving.

[coulsonlives]

I just had to share this video because holy shit, it hits the nail right on the head! So well spoken. This stuff needs to be circulated more, esp with the growing number of people thinking they have this because of misinformation, or just outright faking it.

[trans-axolotl]

some of Eli Clare's writing about diagnosis feels very relevant to discussions on tumblr right now:

"It’s impossible to grapple with cure without encountering white Western medical diagnosis—ink on paper in the Diagnostic and Statistical Manual of Mental Disorders and the International Classification of Diseases, a process in the hands of doctors, a system of categorization. I want to read diagnosis as a source of knowledge, sometimes trustworthy and other times suspect. As a tool and a weapon shaped by particular belief systems, useful and dangerous by turns. As a furious storm, exerting pressure in many directions.

Simply put, diagnosis wields immense power. It can provide us access to vital medical technology or shame us, reveal a path toward less pain or get us locked up. It opens doors and slams them shut.

Diagnosis names the conditions in our body-minds, charts the connections between them. It holds knowledge. It organizes visceral realities. It draws borders and boundaries, separating fluid in the lungs from high blood pressure, ulcers from kidney stones, declaring anxiety attacks distinct from heart attacks, post-traumatic stress disconnected from depression. It legitimizes some pain as real; it identifies other pain as psychosomatic or malingering. It reveals little about the power of these borders and boundaries. Through its technology—x-rays, MRIs, blood draws, EKGs, CAT scans—diagnosis transforms our three-dimensional body-minds into two-dimensional graphs and charts, images on light boards, symptoms in databases, words on paper. It holds history and creates baselines. It predicts the future and shapes all sorts of decisions. It unleashes political and cultural forces. At its best, diagnosis affirms our distress, orients us to what’s happening in our body-minds, helps make meaning out of chaotic visceral experiences.

But diagnosis rarely stays at its best. It can also disorient us or de- value what we know about ourselves. It can leave us with doubts, questions, shame. It can catapult us out of our body-minds. All too often diagnosis is poorly conceived or flagrantly oppressive. It is brandished as authority, our body-minds bent to match diagnostic criteria rather than vice versa. Diagnosis can become a cover for what health care providers don’t understand; become more important than our messy visceral selves; become the totality of who we are.

...

It is impossible to name all the ways in which diagnosis is useful.

It propels eradication and affirms what we know about our own body-minds. It extends the reach of genocide and makes meaning of the pain that keeps us up night after night. It allows for violence in the name of care and creates access to medical technology, human services, and essential care. It sets in motion social control and guides treatment that provides comfort. It takes away self-determination and saves lives. It disregards what we know about our own body-minds and leads to cure.

Diagnosis is useful, but for whom and to what ends?"

-Eli Clare, Brilliant Imperfection pg 41-42, 48.

[squishykitty825]

Me: Why am I always so sleepy during the day?

Google: ✨NArCoLePsY✨

Me: …It can’t be that, I have insomnia. You can’t have both

Google: Yes you can *describes symptoms that hit a little to close to home*

Me trying to process the possibility of having both insomnia and narcolepsy: I’m just gonna go take a nap and pretend you’re not telling me to go get diagnosed with multiple sleep disorders

[katyspersonal]

Absurd how someone might hold the time I reacted very poorly two years ago when someone who's been overly friendly and supportive to me blocked me out of blue against me, as an "evidence" that I am evil dangerous monster who is off to harm when I don't get my way (not exagerration, their hateful claims exactly as they are)

But then the same type of people will hear someone who slipped up a similar way go "shit sorry my [insert diagnosis] be damned" and act all supportive and understanding and willing to let this person struggle to do better. Shit like this is why I still stand on my ground that ableism will never, ever, EVER go away. There is just inherent hatred and hostility towards neurodivergent people, even from those with the same neurodivergency often. And people only put in effort to show empathy and compassion when they're given a concrete term/diagnosis/whatever. So, they won't show mercy unless restricted with the fear of being accused of ableism, and this is a BAD sign. You are not supposed to only show understanding and patience to "be a good ally" in the eyes of the public, you are supposed to do it because it is the RIGHT thing to do.