#congenital disease

[bpod-bpod]

Long Stretch

Mutations within the DNA code that cause abnormal stretches of an amino acid – for example alanine – are associated with a number of inherited diseases. This study reveals how polyalanine stretches have deleterious molecular effects

Read the published research paper here

Image from work by Fatima Amer-Sarsour and Daniel Falik, and colleagues

Department of Cell and Developmental Biology, Faculty of Medicine, Tel Aviv University; Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in The EMBO Journal, January 2024

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[whats-in-a-sentence]

The pestilence of families

Is not congenital disease

But feet that follow where the foot

That has proceeded them was put.

"Weaveworld" - Clive Barker

[heian-era-housewife]

Blind Date

Synopsis | Geto sets Gojo up on a blind date. Hilarity ensues.

Content | Mild cursing, mentions of sex, PG 13 at most.

Word Count | 1,002

Gojo lay back on one of Jujutsu High's frumpy, moth-eaten dorm chairs. Long legs stretched out in front of him, arms draped carelessly over the sides with palms facing up, head lolled back and mouth slightly open. A sigh of utter boredom gurgled deep in his throat as he stared unblinkingly at the ceiling.

Classes were on a break. Students were visiting families or using the time to study and train independently. He had not been called on a mission in three whole days.

Suddenly the door to the teachers' dormitory slid open with flare as Geto strut into the room.

"You can thank me now!" He declared with a pompous smile.

"For what?" Gojo said without moving an inch, eyes still fixed on the ceiling through his blindfold.

"I've set you up on a date tonight," replied Geto with an overwhelming smugness.

"IS SHE HOT?!" Gojo snapped to attention, bolt upright, eager hands gripping his knees in excitement.

"Guess you'll have to see for yourself. Six o'clock. The sushi place in Ginza. Don't be late," Geto said with a wink and a note of suspicious mocking.

*********************************************

5:55 p.m. - Gojo waited anxiously outside the restaurant, unable to decide how far down he should unzip his jacket. He had spent the afternoon showering, shaving, and changing outfits and glasses again and again before settling back on his original black jacket, black pants, and classic blindfold. His boxers he'd been sure to change though, just in case.

***

"Show me what she looks like!" He had whined at Geto over and over. "What's her name? Where'd you meet her? What did you tell her about me?" He pried.

Geto refused to budge. "You'll find out soon enough," he chided at Gojo's pleading questions.

"How will I know who to look for if you won't tell me?" He pouted.

"Oh don't worry," teased Geto. "She'll find you."

***

Awaiting his prize, Gojo looked around again, still fidgeting with his zipper. A soft sudden tap on his arm followed by a sweet, feminine voice caused him to jump slightly as he turned to see the girl Geto had selected.

She was cute, wearing a simple, but flattering dress with just enough skin to pique his interest without drawing too much attention from other wandering eyes. He made a mental note to praise Geto later for his taste in women.

"Sorry to startle you! You must be Gojo!" She said with a soft smile while she introduced herself.

"Please, call me Satoru," Gojo instisted, offering a long-fingered hand to guide her through the doorway of the sushi house.

Rather than take it, she wrapped herself around his arm and began walking confidently into the restaurant, almost pulling him along with her.

Oh! Gojo thought to himself. I am definitely okay with this.

As they settled in the booth, exchanging small talk, Gojo's confidence grew as his date's rather forward behavior continued. Admitedly, a bit surprised, he couldn't help but sit back sporting a goofy smile as she insisted on feeding him, pouring his drinks, guiding his hands around the table, and even praising him on the way he "intuitively" used his chopsticks on the rare occasions she allowed him to feed himself.

Okay, so that last one was kind of weird. But who cares? He thought. I am definitely getting laid tonight.

While the chatter continued, he didn’t delve much into his personal life. Nor did they talk much about hers. She mostly just peppered him with compliments and he attempted to do the same.

Still, he couldn't help feel that something was slightly off as her accolades dipped into the increasingly peculiar.

"Geto told me all about your noble work."

"Oh? Did he now?"

"Your students must love you!"

"Well, I'd like to think so."

"Your hearing must be impeccable."

"Uhh...sure? I guess...?"

When the check arrived, Gojo reached out instinctively to take it, surprised when his hand met hers, also reaching for the bill.

"Oops...sorr-"

"Amazing!" She exclaimed, causing Gojo to retract his hand in startled confusion. "You knew exactly where it was!" She cried, looking up at him in awe.

"I-" Gojo stammmered, working hard to make sense of what she was implying.

With a sudden flush of her cheeks, she gushed, "I hope you don't mind me saying, but if Geto hadn't told me, I would have never known you were blind!"

*********************************************

The dormitory door slammed open, then shut with a dangerous shutter as Gojo stormed inside.

"You. Utter. ASSWIPE!" Gojo shouted into the darkened dorm.

"How was your blind date?" Geto called from a safe distance.

"Hah. FREAKING. HAH! You waited in here all damn night just to say that, didn’t you?!" He growled.

Geto wheezed, doubled over in laughter as he relished the deranged look in Gojo's glowing eyes.

"Oh you think you're so hilarious. You're lucky I don't hollow purple the living shit out of you! Did you REALLY tell her this was a school for the blind?!"

Geto gasped for air, hugging the wall and pounding it with his fist as he reveled in his childish prank.

"Well joke's on YOU buddy! While you were waiting here yuckin' it up to yourself all night, I was getting mad laid at her place. Turns out chicks dig the visually impaired!"

Geto wiped a tear from his eye as he straightened up and looked Gojo dead in his dangerous blue gaze. "You suck at lying. She called a cab and you walked here cursing my name with every step. Don't deny it," He taunted.

"I-"

"Hmm?"

"I mean I-"

"Hmmmmm?"

"Screw you! At least I got a hot chick to feed me sushi."

Geto burst back into raucus laughter as his friend skulked down the hall.

"I'm going to bed," Gojo huffed.

"Need me to walk you there?" Geto called after him.

I'll get him back for that one, Gojo scowled as he threw himself down on his lamentably empty bed. One thing's for sure, though. No more blind dates.

[chialattea]

Nami WIP + some chibi doodles heheeee

[ex0toxin]

its just ketchup

[almond-tofu-chan]

round 7 prediction: luka has a heart attack and fucking dies

[disabled-models]

Mia Castro, a model with Hashimoto’s Disease, Hypermobile Ehlers-Danlos Syndrome (hEDS), and Tarsal Coalition.

[literalcyborg]

Happy disability pride month! I climbed a fucking mountain a few days ago!!!

(To be fair, it was technically more like a really big hill with stairs going up to the top, but the locals call it a mountain and it was hundreds of stairs, so I’m letting myself be proud.)

I did it after a lot of reluctance from my mom too. She was worried I’d overwork myself and have a heat attack or something, and while she’s usually great about listening to me when it come to my body and my limits, she just wasn’t letting it go no matter how many times I assured her I’d be fine.

I know how to accommodate myself. I went with my brother so I’d have someone there if I needed help, my phone was fully charged, I brought plenty of water and Tylenol, and I took breaks when I felt that I needed to, and I was fine!

This is all to say that it makes sense for an abled person to be worried about their disabled loved ones doing strenuous activities, but disabled people know their own limits. I’ve been living in my fucked up body for almost two decades, I know how to handle it by now.

Listen to disabled people. Our boundaries and limits are ours to define.

And again, congratulations to me for climbing a fucking mountain :D

[phantalgia]

Sheesh, I cant sit up at my computer. My heart was acting up like crazy. Right now I’m nauseaous, lightheaded, dizzy, tight throat, shaky, heartbeat irregular, short of breathe, pre-syncope. Shit making me feel worse. Not sure if i feel any better laying down. Maybe in a certain position laying down i do. I don’t know. Staying in bed. Not going on computer. Fuck this. Still hate that i don’t have a full answer.

[pengumi12]

Congenital Heart Defect Awareness

[bpod-bpod]

Vital for Immunity

Importance of peroxisomes – organelles inside cells that are involved in lipid metabolism – for immune cell development and immune responses revealed by defects seen in a peroxisome-deficient mouse model of the congenital disorder Zellweger disease

Read the published research article here

Image from work by Brendon D. Parsons and Daniel Medina-Luna, and colleagues

University of Alberta, Department of Laboratory Medicine and Pathology, Edmonton, AB, Canada

Image originally published with a Creative Commons Attribution – NonCommercial – NoDerivs (CC BY-NC-ND 4.0)

Published in Cell Reports, February 2024

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[wholemleko]

Out here 2 vent again sry

[jamie-is-out-of-ideas]

shout out to all my fellow folks with congenital heart disease/condition who has to go to those anual appointments at the cardiologist (i had an enlarged right atrium and a funky looking tricuspid valve)

[coochiequeens]

For all those who support that nutcase I recently posted about who claimed that trans people were the first victims of the holocaust here’s some actual history.

The persecution of those with mental and physical disabilities by the Nazi Party began in July 1933 with the ‘Law for the Prevention of Hereditarily Diseased Offspring’. The law enforced compulsory sterilisation for those with conditions believed to be hereditary including schizophrenia, epilepsy, Downs Syndrome and even alcoholism. The task of locating those to be sterilised was carried out by special courts called the ‘Hereditary Health Courts’. They examined institutions such as hospitals, schools and nursing homes. Between 1933 and 1939, an estimated 360,000 people were sterilised.

The first killing of a disabled child took place in July 1939. The victim was an infant named Gerhard Kretschmer, who had been born blind with physical and development disabilities. The ‘trial’ took place in 1938 after the parents asked for a ‘mercy killing’ of their son. Hitler then asked for the programme to be extended to all similar cases.

The Reich Committee for the Scientific Registering of Hereditary and Congenital Diseases was established in August 1939 by Hitler’s personal physician Karl Brandt. Its aim was to identify all infants and babies who should be ‘euthanised’. The killings of those considered lebensunwertes lebens (Life unworthy of life) began in 1939. By 1941, over 5,000 chidlren identified by the committee had been murdered. Soon, the policy extended to adults and became known as ‘Aktion T4’.

Historians estimate 250,000 to 300,000 people were killed as part of Aktion t4 due to their mental or physical disabilities.

THE HOLOCAUST

To carry out the programme, six euthanasia centres were established at six hospitals in Germany: Bernburg, Brandenburg, Grafeneck, Hadamar, Hartheim and Sonnestein. There were also centres in Austria. These centres played a crucial role in the development of the Holocaust.

The gassings of those as part of Aktion T4 began in January 1940. Those chosen would be bussed to the euthanasia centres where a fake medical examination would take place before they would be sent for a ‘shower’. These were in fact the gas chambers. Most of those killed were murdered within 24 hours of their arrival at the centres. Their families would then be sent a falsified death certificate along with an urn containing ash (as the victims would be cremated as a group).

As the German army occupied Europe and began filling ghettos with Jewish citizens, the Nazis searched for the most efficient way to kill as many as possible. In the East, mass shootings of Jewish and other ‘undesirable’ people by the Einsatzgruppen was slow, expensive and stressful for those carrying out the killings. By June 1941, the Nazis began to experiment with mobile gas vans as a new, less costly method. The Einsatzgruppen proceeded to gas hundreds of thousands of people, mostly Jews, Roma and mentally ill people.

The use of  gas to kill disabled people and POWs as part of Aktion T4 experiments were also carried out in Auschwitz in September 1941 with Zyklon B gas. This process was found to be the most effective and went on to kill millions of people in the Nazi death camps.

Two of the commandants of the euthanasia centres, Christian Wirth and Franz Stangl, later become commandants of the extermination centres using what they had learnt to perpetrate the Holocaust.

PREJUDICE TODAY

Prejudice regarding both mental and physical disabilities is still an issue in many societies across the world, including here in Britain. This month is UK Disability History Month, which seeks to mobilize the history of disabled persons’ persecution and struggles in order to promote better treatment and ensure equality and basic human rights in our society today.

[kayamark]

Extraordinary you (2019)

Ep 4

[prose-among-the-trees]

Physical disability rant because I haven’t done one yet.

Warning for stomach issues and food processing. It’s gross shit. I know. Trust me, I live with it.

I think one of the worst parts about the disability I have is that it’s all encompassing, but not obviously so. Cancer spreads and affects a ton of stuff when it gets bad enough. Joint issues are pretty all encompassing, and autoimmune diseases definitely so. But my heart issue? Still an invisible illness.

The left side of my heart doesn’t pump blood to the rest of my body. My right side was made to do that work since my left just wouldn’t. The operation rerouted my circulation. I can’t do cardio- or at least now I’ve lived like I can’t so when doctors tell me I should be exercising it’s too much for me. I’ve fucked myself over in that regard.

The rerouted circulation puts a ton of pressure on my liver and is already causing some issues. A normal amount from what I’ve been told, but I’ll never be able to drink much, if at all. Too much of a risk. I’m already missing out on a lot of things for people my age. I shouldn’t say I’m missing out on a substance like alcohol, but I haven’t felt like an adult or a child when I was either, and it’s another reason. I can’t be like others.

I’ve got a theory that I don’t get enough oxygen to my stomach. That my low count already (low for normal people but not dangerous for me) has most of it activating my brain and stuff, and so eating food is a nightmare. I eat and my stomach aches badly and I have to use the bathroom right away to fix it. Every meal. Every snack. I love food, always have, even and especially when I wasn’t getting enough. I don’t need this added.

I don’t look disabled when you look at me. If you can’t see any of my scars I look like a lazy recluse that doesn’t know how to have fun. It’s all encompassing but it doesn’t seem like it would or should be. When I tell people issues I have, they look at how small and skinny I am and they see no visible scars when I’m clothed and think I want attention for my poor heart. My heart can’t beat without a pacemaker. I’d sell my soul to get rid of this condition.

It’s ruined big bits of my life, and they might stay ruined, or worse, degenerate like my heart.