Genetic Disorders - Tumblr Posts

Since he was 5, Tobi Akbas has been nicknamed "the Mayor" in the affluent suburb of Garrison, New York, where he lives. When his mom would take him to the supermarket, he would say hi to every person they saw. In high school, he'd wait in front of the school building to greet students as they arrived.

Now 22, Tobi still craves human connection like oxygen. He's the unofficial ambassador of a Garrison volunteer firefighting squad, handing out candy canes at the annual Santa Run. He posts motivational "Tobi tips" online — as well as sharing them with anyone who asks.

(via Williams Syndrome: the Joy and Sadness of Loving Strangers)

Williams syndrome is a rare genetic disorder characterized by distinctive facial features, cardiovascular problems, developmental delays, and a unique cognitive profile. It is caused by the deletion of genetic material from chromosome 7, specifically a region known as 7q11.23. This deletion affects multiple genes and can lead to various physical and cognitive symptoms.

Individuals with Williams syndrome typically have a friendly and sociable personality, often displaying strong language and music abilities. However, they may also experience challenges in areas such as spatial relations, motor skills, and certain aspects of visual-spatial processing. People with Williams syndrome often have an affinity for music and may show an unusual level of empathy and social interest.

Characters I think would have Fragile X syndrome.

Because FXS bitches are starved of representation.

(Very short & basic information: Fragile X syndrome is a genetic disorder characterized by mild-to-moderate intellectual disability. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common, and seizures occur in about 10%. Males are usually more affected than females.

Speech may be cluttered or nervous. Behavioral characteristics may include stereotypic movements (e.g., hand-flapping) and atypical social development, particularly shyness, limited eye contact, memory problems, and difficulty with face encoding.)

c!Ranboo (from the Dream SMP)

Madeline "Maddie" Xylophone Hatter (from Ever After High)

Michael Shelley (from The Magnus Archives)

TJ Bright/SCP-590 "He feels your pain" (from the SCP community)

A burning flesh

There was something wrong with Luisa, and Julieta just wished she could realize it earlier. Because Luisa never reacted to pain, no matter how hurt she was.

Julieta was heading home after a whole day of healing people. Even so, she felt pretty high. Today there wasn't a big amount of people, so she might take a break from kitchen and not baking anything this evening.

"Mom!" Julieta shuddered as she heard her eldest daughter's scream. "Lulu is hurt!" She grabbed the mentioned girl as she ran to her mamá.

Julieta didn't take another second to run to her hijas. Even from far away she could see that Luisa's free arm has a giant deep red burnt that was black at some places. Juieta felt sick, how come her baby girl could be hurt like that?

"Mámi!" Luisa waved at her happily. "Isi want you!" She announced proudly, not putting any attention to her arm.

"What happened to you?!" Julieta cried worriedly as she put an arepa in Luisa's mouth. The two years old girl innocently blinked her eyelashes, chewing food in her mounth.

"I was playing with Dollie!" Isabela cried, "Then I felt like something burnt!" She sobbed putting her hands on her hermanita's shoulders. "And Lulu put her hand in the bake!"

"I wanna make an arepa for mommy!" Luisa explained proudly! For a second Julieta felt proud, but then she became even more worried than before.

"Mija, you don't have to deal with pain to cook." She sighed, Luisa gave her a suprised look, like if Julieta just told something really stupid.Luisa always coped well with pain, never crying no matter how badly she was hurt, but it was totally out of limits.

Then realization hited Julieta. Luisa never complained about any pain. Julieta felt sick, she might not know what happened to her baby girl, but she knew exactly one thing. It wasn't normal.

"Don't ever do that again!" Isabela screamed as she pressed Luisa closer to her chest when Luisa's hand was fully healed.

*****

Julieta started to pay way more attention to her youngest daughter after that. Well, not exacly the youngest, since she became pregnant again a while ago, but still very small girl. And she realized something, that she never noticed because of her ability to heal people. Luisa didn't have a normal reaction to pain. She could put her arm inside of boil of boiling water and said that it was fine, holding her palm long enoung to draw it back and screamed from pain. Julieta tried her best to not think about a charred hand. Luisa could smile and say that she was fine when her forehead was burning. She could run to Juleta with a huge smile on her face when her leg was definetly broken.

And Julieta was scared. It wasn't a normal reaction, and she understood it. What if Luisa would be hurt so badly that she might die and didn't even notice it?  She spent hours in library trying to find something, but couldn't find anything. So, the only thing that she could do is to make sure that Lulu was never alone, because arepas didn't seem to heal it, no matter how hard Julieta tried, falling on her knees every night, begging to let her hija feel pain.

Julieta gigged weakly as she thought about all this poor mothers with a sick kids who was begging about the opposite thing. Maybe, the good mother would be happy because of it. А kid who never felt pain probably was a  blessing. But image of a black charred hand stuck in her head. If Julieta tensed up a little bit, she almost could feel the smell of burnt flesh, even if she was never here when it happened, this smell was forever stuck in her nostrils.

****

It took a few years for Julieta to realize that Luisa's gift gave her not only strenght but also an invulnerability. Julieta couldn't remember a day when Luisa wasn't hurt before her seremony, but now she was always fine. Lulu was able to break a stoned with her bare hands, and she won't have any broken bones or sprains. She could stand up in fire and didn't raise an eyebrow, not only because of not feeling pain, but because her skin wouldn't twitch and mangle under the hot flames of fire.

Or atleast Julieta really hoped that it was like that. After all, Luisa's reaction to pain was the same as before: non-existing. Even so, Julieta make sure to check on her daughter every evening, forcing Luisa look away in ambarrasment. Then Mirabel didn't get her gift and everything was so hectic that Julieta completly forgot about it for the next few months. And then, it simply became too late to return to it. Expecially when Luisa was about to outgrow her mom. Well, she's totally got her height from Agustin.

But even when everybody was sure that Luisa is immune to pain, Luisa still asked her magic to heal Luisa wherever she might be hurt.

Hot issue

Camilo wasn't really close to his middle prima. And, maybe it was the reason why he was so suprised when she fainted from a heatstroke while she was working

Camilo groaned as he leaned back in the chair, lisening Abuela's morning speech. It was just like always, be nice, help everyone... Why did she even keep telling the same thing every day? Camilo could repeat it without any mistakes.

It was very hot day. Camilo's shirt clamed to his body, his hair greasy melted together. As he could see, everybody felt no better than him. Mami tried to create a rainy cloud, but it didn't help very much, since she seemed to be in a wonderful mood today. And if somebody would ask Camilo, he would prefer to die from the heat than ruin her day. It seemed like having knotted hair was today's rush of fashion. It was pretty strange to see Mirabel or Isabela who always had their hair loose with neat buns. Camilo also wanted to make a hairstyle with his hair, but instead he cursed the fact that he cuted it  few months ago, because now it was long enough to make his neck sweating, but still too short to make any hairstyles. Maybe he could shapeshift his hair? Yes, it seemed like a good idea. Camilo let out a satisfied sigh, as he felt a little bit better

He eated arepa, looking on suffering faces. Even Abuela looked sick, as she wiped a sweat drops off her face. The only person who actually seemed to not sweat was Luisa. Camilo understood that she might be used to working under the scorching sun, but he still was too suprised, remembering her morning exercises. Camilo would even think that Luisa wasn't suffering from heat at all if her face wasn't so red.

Soon, the whole family dispersed to their chores. Camilo knew that he has to be in town too, but he really doubted that anybody would walk out of their houses today. But he also realized thay Abuela won't take it as excuse.

"Camilo, what are you doing?" Of course. He groaned as he stood up, okay atleast he probably would have a full day for himself.

Suddenly, Dolores interuppted them "I think that Camilo would be better if he would be happy, instead of suffering from heat. Afterall, it's his job to make everyone happy." She explained. "And it would be totally easier if Camilo wouldn't be dying from heat."

"What if somebody needed him to look after their kids?" Abuela insisted standing still and holding her arms behind her back.

"I could tell him." Dolores sighed. "I can use my power in any place of Encanto." She smiled. Camilo could barely hold back a sly smile as he understood that his hermana just wanted to have a reason to stay at home.

Abuela's face became unsure for a minute, before she closed her eyes and sighed. "Okay, I'll be in town." She stared at Camilo for a moment before said stricly. "I'm doing it only because of your role." Unsaid be happy, make everyone else happy floated in the air.

Camilo gave Dolores a thankful smile and jokingly nudged her. She gigged as she reached down for her hermanito and ruffled his hair, forcing him to frown playfully.

"You ruined my hair!" Camilo announced as he put his hands on his chest and looked away.

Dolores rolled her eyes. "You can just-" She stopped at the middle of sentence when Camilo shapeshifted his hair again. "Yes."

****

A couple of hours passed. It was pretty unusual to see Casita so empty and quiet. But since everybody was working he could be here. Camilo played a scene for himself taking sips of cold water sometimes, and Dolores seemed to be listening to the town.

Squeak.

"Camilo, we have to go!" She whispered worriedly as she grabbed her hermanito.

Camilo let out a frustated sigh when he realized that his day off just finished.  "So, who is it?"

"Luisa."

Camilo raised an eyebrow, running next to Dolores. "Why does she need me?"

"I think she might have a heatstroke." Dolores sighed. He took a chaotic breath in, he could swear that even senõrita perfecta's flowers were dying under the direct sunlight. Running totally didn't help to cold down his body.

Soon, Camilo noticed a giant figure lying on the groung surronded by worried donkeys. Without any doubts it was Luisa. Her body was twisting in convulsions, and Camilo could hear how she mummbed some incoherent delirium. Camilo realized that she probably had some hallucinations from heat. Donkeys worriedly puted their noses in her, rolling her on the groung. Then they moved their heads to the sound of running kids and took few steps back.

"Let's took her to mami." Dolores sighed when Camilo turned into the second Luisa and helped to put original one on his shoulders. Camilo really disliked being turned into Luisa, because everytime when he would do it, he would get an endless list of tasks immediantly, but at the current situation everybody would probably understand that something is wrong. Also, Luisa's body didn't seem to be sweating as much as his own, Camilo took a guess that it was because her body was used to overheating due to a hard work. One of the donkeys came closer and helped to rise Luisa. She was hot, her skin felt way too dry, almost desiccated. Luisa's natural muscles helped to carry her, but she still was too heavy, so Camilo started losing his breath. The fact that she was convulsing didn't help. She also stopped mummbling, so Camilo gussed that she fainted. He suffocated cursing Luisa for passing out. Why couldn't it be somebody small and light? Then Camilo could carry them way easier.

"Mom is over here." Dolores took his hand and lead him to the left

"Thank you, seniorita." Camilo heared one of the villagers. In very hot days like this Pepa were visiting town people homes and make rain in them. She said that it was more effecively than making it rain all over Encanto.

"Mi amor, how are.." Now it was Felix, but he was interrupted by his kids voices.

Mami!" Camilo screamed, his parents turned around and saw how Dolores, who was covering her ears from sceam, and Luisa were holding other Luisa.

"Luisa, are you serious?" Pepa groaned running to them with panic on her face. "She's even worse than usual!" Apperently, it seemed like fainting from heat was something that Luisa did often enough to condition her condition woud be admited even worse than usual. "I swear, I'll kill her myself one day." A wind began to blow around them. Camilo couldn't help but happily relaxed when the heat subsided.

Mami focused, and soon a cold rain started to fall on Luisa's face. Camilo gently placed her on the ground and took a few steps back as he shapeshifted into himself again. Dolores wiped her forehead suffocaring from running.

"It's reminding me about old times." Pepa sighed, looking at her sobrina's face. "When she was a baby I had to rain on her whole days because she was too hot." Her voice trembled as she worriedly walked in circles.

"Wow, I didn't remember it." Camilo tried to defuse the situation with a smile leaning against the wall of one's of the houses and crossing his hands.

Dolores hited his head playfully. "Of course, you weren't even born back then." Camilo scratched hitted spot indignantly.

"Something never change." Felix shooke his head. They kept standing here in awkward slience interruptible by sound of raindrops hitting Luisa's body. Her face was red, still twitching from heat.

"She hadn't faded like that almost for three months." Pepa sighed worriedly rubbing her braid and kept walking around. Camilo looked at his mom with suprised face. He was really shoked after realizing that not heaving a heatstroke for couple of months seemed to be a very long time for Luisa. "I thought that she healed. Why mami even let her working?" She started to spiraling mummbing under her nose, Felix took her arm, helping to control her emotions as she continued to whispering to herself. Camilo felt awkward, so he kept talking with Dolores. He used to be the one who make everyone happy, but he was pretty sure that his abilities would do nothing to help his prima right now.

"Pepi it's okay." Felix put his palm on Pepa's hip when her cloud started to thundering. For a second cloud turned into the sun, but then mami shuddered in fear and rain started to hit the ground again.

And, it also was a lot to proceed. Camilo and Luisa wasn't really close. Mostly because Luisa always worked, Camilo sometimes thought that Luisa was working even in her sleep. She got her gift when Camilo wasn't even one year old, so he didn't really know how things were back then, the only Luisa that he ever knew is the always working and responcible one, Luisa who never took breaks. Maybe it was the reason why he was so suprised after hearing the fact that she overheated pretty often, since nobody else seemed to be suprised by it. And he couldn't shake mami's words out of his head. She said that Luisa hasn't faded as if it was the longest time without it in a whole life. And, according to Mami's face expression, Camilo thought that it definetly was truth. He was great in reading face expressions, after all, how can you pretend to be somebody else without knowing all their thought written on their faces?

It took around twenty minutes before she finally woke up. Luisa groaned as she sat down leaning on her hands, then she looked up at the cloud over her. Her skin still seemed to be a little pinker than normal, but she totally looked better. Camilo came closer to see her better, mami also stopped circuling, but rain still was falling on Luisa's wet body.

"Tía Pepa?" She shuddered in realization. "What I'm doing in here?" She scratched her neck. "Wasn't I taking donkeys into the barn?" She looked around trying to remember what happened.

"You passed out again!" Pepa shouted leaning towards her. "Sorry, dear." Mami whispred as she saw Dolores covering her ears

Luisa's face became worried as she started to count something on her fingers. At first, Camilo thought that she was remembering the chores that she has to do, but her face was telling that Camilo was wrong. "But it's an hour before my usual time." She shuddered. "Why would I have a heatstroke so early?"

Papi stared at her in suprise. "Luisa, your body does not obey the clock."  He put his hands on his sides. Camilo desided to not mention the fact that Luisa literally had an exact time when she supposed to faint.

Luisa looked at each of them biting her lip. "Then how do you expect me to get when I need a little cold water?" She raised her eyebrows and spread her arms to the side. Camilo frowned trying to proseed what she said. Wasn't it obvious? "Well, I still have a work to do." Luisa announced clutching her arms together.

"Have you lost your mind?!" Pepa trew her hands in the air and Luisa recoiled as lightning struck next to her. Mami took a deep breath as Felix slighty pat her spine.

"You literally feel hot when it's too hot around." Camilo put out frowning and pointed on Luisa with a finger gun. How come she didn't realize it? But his parent and hermana looked at him awkwardly as if they wanted to say something, but couldn't explain it.

It became quiet for a while as Luisa fixed her hair, stood up and gave Camilo unsurely look holding her elbow in hand. "I don't really feel... temperature." She said and her voice's tone rised up as if it was a question. "Guess It's the side effect of my gift." She shrugged.

He threw his hands in the air indignantly acting like a drama queen, so atmosphere around would be no longer so tense. "How many abilities you've got from your gift?" He crossed his arms on his chest.

Felix sighed looking in his son's eyes. "It's not a good thing because Luisa's still affected by weather."

"It's still unfair." Camilo rolled his eyes and looked at embarrassed Luisa who looked away with a guilty expression.

She scruthed the back of her head. "I really had to work, I didn't even start to rerouting the river." She explained quietly and moved forward humming some tune.

"Luisa!" Pepa's scream was interrupted by lightning. "You are sick!" She tried to run after her sobrina, but Luisa already was too far away, soon her voice faded in town's noices.

"She's okay now." Dolores whispered putting her hand on mami's shoulder. "I'll listen in case it would happen again."

Camilo kept staring at place where Luisa was heading for a moment until he stretched out with a sigh, and asked. "Can I go home now?" Dolores noded, as both of them hugged their parent as goodbye. And Camilo just thought about what happened. Luisa wasn't only super strong and invulnerable, but also unable to feel temperature. Was it how she managed to carry a hot food to the table without letting her face muscles twitch? Camilo could be almost jealous to Luisa with all the abilities that she got. But... After seeing how she convulsed on the ground... He prefered to know when it's too hot without passing out.

Camilo never realized that he stopped feeling so hot when he shapeshifted to carry Luisa.

Rain drops

Pepa thought that her powers wasn't really useful. But now... Maybe she could help Luisa?

Pepa worriedly drummed a melody with her fingers. The town was mad, because Julieta couldn't work. Despirite all of Pepa willing to hit somebody with a lightning, she took a deep breath understanding that mami totally wouldn't appreciate it. Pepa raised her head as she saw how her hermana went down the stairs with a tired face, dark circles under her eyes explained how bad everything was.

"How's Luisa?!" Pepa ran to the stairs and gave a hand to her sister.

"She's got a fever again." Julieta whispered closing her eyes leaning aganist the wall as if she was too tired to stand still.

Yes, Luisa was born as a good big girl. Pepa could say that she was totally bigger than Isabela or Dolores. At first all Pepa thought that her second sobrina was absolutely healthy, but very soon she became too hot. So hot, that Pepa thought that Luisa had some sort of imaginary sun over her head, sun that was always burning her. Just like her own, except the fact that Pepa could control it at least a little bit.

Of course, it made everyone sickly worried. Agustin almost fainted, as he admited that his secondary cousin died from overheating when she was newborn.

Pepa always thought that she was prone to overworrying. Well, Julieta totally had some of it too. She almost lived in a children's room now, trying her best to cold Luisa down. Pepa realized that her hermana would go outside only when Agustin was looking after Luisa. And she still was too worried to do something about her work. Isabela and Dolores didn't understand what was happening, but they knew that Julieta was busy with Luisa. And Isabela was so mad at it. A few days ago she ran away (if hiding under the table counting as it) after having a whole bloom hysterics with throwing her toys and stomping her feet. Little Isabela couldn't understand what happened and why her parents gave so much attention to her hermanita.

Well, atleast Julieta got some sleep with Isabela in her bed to prove that her mami still loved her.

Julieta took a deep breath walking into the kitchen. Pepa followed her. Julieta took a glass af water with her shaking hands and blew it off in an instant, then she put it back with a such brute force, that glass cracked. Julieta shuddered looking inside, then she groaned and trew glass into the trash can that Casita moved to her.

"Julieta, you have to sleep." Pepa put her arm on Julieta's shoulder. "Agustin can look after Luisa." She tried to hold down the wind.

Julieta sighed, taking another glass and filling it with water. "Agustin needs to be looked after him himself." Water spilled on the kitchen table with a slipping sound.

"Clear skies.." Pepa mumbled through her clutched teets. Julieta glanced at the puddle on the table as if it had awswers for her whole life. It was wrong, so awfully wrong. Pepa supposed to be the one, who panic because of something, the one who couldnt sleep because of worries (well, she finally could, thanks to Felix). And Julieta supposed to be the one who take care of everyone. The one who make sure that Pepa and Bruno were alright. But here they are.

Pepa muttered unhappy when a couple of raindrops fell on her head. Great, then it would become rain, and soon it would be a downpour. She roared something to herself, in her opinion, her gift was way more of a curse than an actual blessing. She almost imagined mami's face looking at her with the same discontent, as always when she's saying. "Pepa, you have a cloud."

Julieta shuddered with her eyes opened wide as a couple of drops fall on her as well. She turned her face to Pepa and a small smile of hoping appeared on her face.

"Sorry, I didn't mean it." Pepa explained quietly, clutching her dress. "Clear.." She only started her regular mantra to get distracted, when Julieta jumped to her and grabbed her hands.

"Pepa, could you rain on Luisa?!" Julieta's eyes was glowing with hoping happiness, her smile no longer seemed forced for the first time in two weeks. "Maybe you could cold her down?"

A few seconds later, a sweet rainbow appeared next to them, Pepa hugged her Hermana, trewing her into the air for a moment. Really, Pepa usually create a rain for others when it was too hot, why didn't she thought about it earlier. "I will." She promised firmly, as she let Julieta down. "I'll take my book." Pepa used to read sad stories wherever she might need to create bad weather. Or just went to Felix, she didn't know why, but her husband always helped her to create exactly that weather that she wanted. Deep inside, Pepa thought that it was her husband's gift.

She ran into her room faster than a hurricane, her hair almost glowed in the sunshine as she grabbed her favourite book. In the same hurry she opened the nursery door. Her hair became messy, and her eyes was widened as if she was she evil genius.

"Ah!" Agustin screamed in shock as he fell from the sofa. He looked up and raised his eyebrows as he saw Pepa. "Do you need something?"

Pepa bite her lip, as she remembered how much everyone was suffering because of their situation. Raindrop called on her nose. She concentrated to take the cloud to Luisa's baby crib. Pepa smiled softly, and a small sun stared to appear from the cloud, then she startled worriedly. A light wind blew in the room. Pepa swallowedas she opened her emotional book, flipping through the pages until she found pencil note on the margin where was written "Rain".

"So..?" Pepa turned around when she heard Agustin's voice and saw how confused he was looking at her.

"Juli asked to create rain to cool Luisa down." Pepa explained with a nod.

His eyes shone, as he smiled softly. "Do I have to..." He stopped when Pepa whole her head and turned to the door, wordlessly asking Agustin to leave her alone. "Call us if you need something." He sighed happily and slowly walk to the doorway, then stopped and turned to the Pepa again. "Thank you, Pepa, you're the best!"

She had to pull all of her strength together to not create the burning sun.