#prader-willi

[libraryofbaxobab]

July 18, 2024:

Can't help the comparisons to Tender Is The Flesh, another nauseous book named for its meat industry. I think I liked this one better, but I can't remember how I rated TITF.

But really, this is more of a pathogen story, a plague, an airborne danger to both avoid and accept as an inevitable part of daily life. That's a familiar background anxiety, but the part about the child who cannot stop eating makes me so sad.

It's a short, frustrating book, and I don't want to examine why it was frustrating.

3.5/10 #WhatsKenyaReading

[chaoticautie]

As someone who is somewhat of a “veteran” of the online ND community, I’m disappointed in the lack of positivity and love for lesser known diverse cognitive conditions, and the opposing abundance of posts about “cures” or outdated criteria or treatments for those conditions. So, without further ado, I want to say hello to anyone with any of the disorders I’m listing, and give them the love and support that hardly anyone else in our community has… Shoutout to:

People with Down syndrome

People with Fragile X

People with William’s syndrome

People with dyslexia

People with dyspraxia

People with dyscalculia

People with dysgraphia

People with Prader-Willi syndrome

People with PANS or PANDAS

People with aphasia

People with a TBI (traumatic brain injury)

People with chronic/early onset mental illnesses

People with cerebral palsy

People with FASD or were otherwise disabled via other substances in utero

And many, many more I may have forgotten to list (but still support and love, I will add more to my list)

You are all beautiful and wonderful, and you all deserve so more love, appreciation, acceptance and support. You are just as neurodiverse as the rest of us, and your voices deserve to be heard and amplified.

I love you all ❤️

[blixtbaby]

eating again george ? 😋

[mort-the-destroyer]

The guy who first diagnosed Down syndrome back in 1866 showed more compassion to his patients then some people now.

I would write a paper on this guy if I had the time, because honestly? He was ahead of his time.

Also late in his career he was the first person to publish a description of Prader Willi syndrome.

Imagine that not being the most influential thing you did.

Anyways read up on him if you feel sad.

[katiemoroney]

Managing Prader Willi Syndrome Symptoms: Tips for Families and Caregivers

Learn essential tips for managing Prader Willi Syndrome in children and adults. This insightful guide offers practical strategies for families and caregivers, focusing on symptom management, dietary guidance, and emotional support.

[lennymomcocoa]

Lenny is an 11-year-old artist who loves painting and Van Gogh, and this is Van Gogh he created

[ameliyalanne]

Boosting Office Productivity: The Unexpected Advantages of Outsourcing Rubbish Removal

One common remedy to this is outsourcing office rubbish removal, a practice that has gained momentum over the years thanks to its surprising benefits.

[randomwikiarticles]

Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15.[2] In newborns, symptoms include weak muscles, poor feeding, and slow development.[2] Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes.[2] Mild to moderate intellectual impairment and behavioral problems are also typical of the disorder.[2] Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are unable to have children.[2]

About 74% of cases occur when part of the father's chromosome 15 is deleted.[2] In another 25% of cases, the affected person has two copies of the maternal chromosome 15 from the mother and lacks the paternal copy.[2] As parts of the chromosome from the mother are turned off through imprinting, they end up with no working copies of certain genes.[2] PWS is not generally inherited, but rather the genetic changes happen during the formation of the egg, sperm, or in early development.[2] No risk factors are known for the disorder.[4] Those who have one child with PWS have less than a 1% chance of the next child being affected.[4] A similar mechanism occurs in Angelman syndrome, except the defective chromosome 15 is from the mother, or two copies are from the father.[5][6]

Prader–Willi syndrome has no cure.[7] Treatment may improve outcomes, especially if carried out early.[7] In newborns, feeding difficulties may be supported with feeding tubes.[3] Strict food supervision is typically required, starting around the age of three, in combination with an exercise program.[3] Growth hormone therapy also improves outcomes.[3] Counseling and medications may help with some behavioral problems.[3] Group homes are often necessary in adulthood.[3]

PWS affects between 1 in 10,000 to 30,000 people worldwide.[2] The condition is named after Swiss physicians Andrea Prader and Heinrich Willi who, together with Alexis Labhart, described it in detail in 1956.[1] An earlier description was made in 1887 by British physician John Langdon Down.[8][9]

[amanahratu]

https://www.healthlaugh.com/

[odekiisu]

Vulcan Eyebrow Pointiness is governed by gene(s) in an imprinted region of the genome.

Imprinted genes are expressed differently depending on which parent they're inherited from; either the maternal or paternal copy of the gene is suppressed. On Earth, this can be seen in some human genetic disorders such as Prader-Willi/Angelmann syndrome (both caused by a large deletion on chromosome 15; which one presents is dependent on which parent the mutation is inherited from).

Another case where genomic imprinting causes noticeable differences in phenotype are lion/tiger hybrids. They have the same complement of genes, being 50% lion and 50% tiger, but ligers (male lion/female tiger) are absolutely heckin massive, being larger than both parent species and the largest feline in the world, and are lighter in base colour (more the colour of a lion than a tiger).

Fig. 1: Liger

Tigons (male tiger/female lion) on the other hand are about the size of a tiger and more tigery orange in colouration. This is because of growth-suppressing genes that are active when inherited from a female lion, but not when inherited from a male one, and corresponding growth-promoting genes that are only active when inherited from a male. Female tigers do not have the required growth-suppressing genes to counteract the latter, so ligers get huge, but tigons don't.

Fig. 2: Tigon. Note that both are stripey.

In the case of Vulcans, the maternal copy of at least one gene that governs eyebrow pointiness is suppressed, whereas the paternal one is active. Behold:

Fig. 3: Spock, half-Vulcan with a Vulcan father, has pointy ears and pointy eyebrows (obvious usage of eyebrow liner notwithstanding).

Fig. 4: Lorian, half-Vulcan with a Vulcan mother, still has pointy ears but round eyebrows.

As you can see, the eyebrow pointiness phenotype differs depending on which parent it is inherited from, whereas the ear pointiness phenotype appears to be dominant, much like stripeyness.

tl;dr: Spock is a liger and Lorian is a tigon.

[it-is-only-a-novel]

Neurodivergent: a list

A list of those who are included under the "neurodivergent" label.

Applied Neurodiversity

Dyscalculia

Dysgraphia

Dyslexia

Dysnomia

Dyspraxia

Dissociative disorders

Depersonalization-derealization disorder (DpDr)

Dissociative amnesia

Dissociative identity disorder (DID)

Other specified dissociative disorder (OSDD)

Unspecified dissociative disorder

Eating disorders:

Anorexia nervosa

Avoidant restrictive food intake disorder (ARFID)

Binge-eating disorder

Bullimia nervosa

Pica

Mental illnesses:

Anxiety

Delusional disorder

Depression

Complex post-traumatic stress disorder (CPTSD)

Post-traumatic stress disorder (PTSD)

Personality Disorders:

Cluster A:

Paranoid personality disorder

Schizoid personality disorder

Schizotypal personality disorder

Cluster B:

Antisocial personality disorder

Borderline personality disorder (BPD)

Histrionic personality disorder (HPD)

Narcissistic personality disorder (NPD)

Cluster C:

Avoidant personality disorder

Dependent personality disorder

Obsessive-compulsive personality disorder

Other:

Personality change due to another medical condition

Personality disorder not otherwise specified (PD-NOS)

personality disorder trait specified (PD-TS)

Tic disorder

Chronic motor or vocal tic disorder

Tourette syndrome

Transient tic disorder

other

Acquired Brain Injuries (ABI)

Angelmans Syndrome

Auditory processing disorder

Autism spectrum disorder (ASD)

Attention deficit hyperactivity disorder (ADHD)

Body integrity identity disorder (BIID)

Bipolar disorder

Depersonalization-derealization disorder (DPDR)

Down syndrome

Fetal alcohol spectrum disorder (FASD)

Fragile X syndrome

Hyperlexia

Intellectual disability

Irlen Syndrome

Meares-Irlen Syndrome

Obsessive-compulsive disorder (OCD)

Obsessive love disorder (OLD)

Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS)

Prader-Willi Syndrome (PWS)

Prosopagnosia

Savant Syndrome

Schizophrenia

Synesthesia

Williams Syndrome/Williams Beuren Syndrome

This is by no means a full list.

If you: see that I'm missing something, or

want me to rephrase something, or

have a resource to share, or

have a suggestion for organizing the list

please let me know in the comments/rebloggs.

I'm autistic and I love making lists. I also hope it may help spread awareness about neurodivergent people!

I am not an expert. But I do believe that we should be careful to include people in the neurodivergent umbrella. We are stronger together.

Updated: 9/2/24

[cripplecharacters]

is it offensive to call pwdwarfism "dwarfs"? ive heard a few people use it to refer to themselves, is it akin to reclaiming a slur? what are other words i can use if so?

Hello,

So, according to this post by @a-little-revolution, which is a video featuring a few people with dwarfism discussing the terminology the prefer, "dwarf" is an iffy term. It could be taken either way by people with dwarfism, some see it as an offensive term, others are completely fine with it, so it's probably best not to use if if you don't have dwarfism. If someone with dwarfism says it's fine for you to address them in that way, it's fine to refer to that particular person like that, but it's not a term they're all comfortable with

More acceptable terms include Little Person and person with dwarfism in an activism setting. But outside of that context, just refer to them by their names.

Mod Aaron

Hi lovely asker

So my thing is outside of medical circumstances and activism sorta talk, I don't see a need for the terms of dwarf, little person, and so on. If someone comes up to me and ask why I'm short (which has happened a multitude of times) I just say "I have a type of dwarfism". Most of the time people don't believe me especially because I have proportional dwarfism which is a less uncommon type of dwarfism that people don't take into account.

And the conversation of "well what do we call people that look like you" well you call us by our names. If you don't know our names just say "The shorter person, the small person" just normal descriptive terms.

If you're doing activist, or advocating, the general term that is used as a whole is Little Person/People or LP for short. If you're talking about another person, you're probably close enough to that person to know what terms they prefer. Midget is an absolute no, anytime and always. Dwarf—as Aaron said—is iffy with a lot of people. Dwarfism is another that some people like and some people don't. Little person is the most accepted one and even a lot of organizations have this as their names. Short Stature is one I'm honestly not sure about because people with proportionate types of dwarfism (Tuner syndrome, prader-willi syndrome, Noonan syndrome, and many more) are usually given the secondary diagnosis of Short Stature Syndrome. So weird medical stuff here in that not everyone is given that Short Stature Diagnosis it's very confusing and it depends on the doctor and even what type of Dwarfism/condition you have—but my point is some people hate using medical terms to describe themselves so just putting that out there.

Personally I like dwarfism, I don't mind dwarf, and I like the usual descriptive terms for Short. I actually don't like Little Person for myself, I don't like when people call me that, and again it's a personal preference. Even when I talk about myself I say "Short", "Tiny", "itty-bitty", "itsy-bitsy", I call my hands "pudgy" and myself "Stubby", "ant-sized", "The size of a speck of dust", "pocket-sized", my friends call me "Fun-sized" and "pocket-friend"; and even one of my very close friends calls me an "Elf" on occasion when I wear this pair of green socks that fit me comically big. I'm Mexican too so people call me "la nanita", "Chiquita", "poquito", and such.

My argument here is really that there's a lot of normal everyday terms to describe someone, we're not just medical words and definitions.

~ Mod Virus 🌸

[culminada]

I sat here scrolling Tumblr and then I heard my dad snoring on the other side of the wall.

And I've been making it a habit to consciously pay attention to the people I love, because I love them.

And so - I wasn't trying but this just came to me because of observations, and knowing, and perhaps the habit of it - I thought oh, that means he's sleeping.

Its the middle of the day. He does this sometimes. He's a very busy person, between two jobs, and 2-4 disabled kids. He takes power naps after lunch. He has a whole strategy. He's told it to me and I listened and I remembered because I love him.

He's also in burnout. My dad is burnt out and I understand because I am also burnt out. I wish I could help him but I am burnt out, and so all I can do is know him, is listen to him snoring and know that he is tired.

I get to listen to him snoring. He is tired. He is sleeping on the middle of the day because he is tired, from taking care of me, who am autistic, and my brother, with Prader-Willi Syndrome (shoutout to ppl with PWS), and his job 1 to pay the bills and job 2 to pay for the future and his wife and his other children and making sure we all get our enrichment.

And so he is snoring on the other side of the wall, and I can picture him tangled up in his blankets and sleeping because he is tired.

And so I get to listen to him snoring and think about all the things he does and how much he deserves rest, and how glad I am that he CAN rest, that he's worried and busy and anxious, but not too worried to sleep. Because he needs to sleep. And it's a blessing that he can do that.

And I'll sit here and appreciate him and all he does because I can hear him snoring (and it keeps everyone else up at night unless he uses his mouth guard, which we all call his snore-teeth, and I know this because I listen and I pay attention and I love him).

And he might never know that I sit here and think of him and love him and all he does, how grateful I am that he takes care of me when I'm his oldest and I'm autistic, and I don't feel overwhelmingly bad about that but I do wish I could help more than I do. Not be so big of a burden as I am. But all I can do is let him sleep.

He might never know that I take the time to listen to him snore. Maybe one of those days when he's feeling horrible I'll show it to him and say "you are loved and I see you and I am grateful for everything you do, I love you I love you I love you I love you I love you." Maybe I'll make bits of this post into my Father's Day letter. I've been wondering what to do for that because I've been more vocal lately about how much I love him and sometimes it feels like there's nothing left to put in a Father's Day letter that wouldn't just be the same.

There's something special in just the same, though. Like listening to snoring. There's time. And when you're sitting in the middle of time, in the quiet and the dark and listening to snoring, and wondering when the next snore is gonna come, and contemplating life and love and time - well, I'm not doing anything else. And I'm not getting any younger. And maybe right now I can't mentally DO anything else. But I can do this.

I can contemplate my father, who is wise and loving and who pours himself out constantly, fill my mind with MY DAD instead of something else, because I love him.

I lied. My first thought wasn't "oh, that means he's sleeping." Well, it was subconscious. But right after, I thought, "I wish I had someone to love this way," meaning that I want to get married and have someone to love.

But I do have someone to love. I have my father. I can love him. I DO love him. And why am I pining for something I can't have, or worse, for someONE I can't have, when my lovely beautiful Dad is right there loving me in his sleep, in his waking, in his working, in his eating, in his thoughts, in his research, in his everything. I have him? Why do I need anyone else?

[marianadecarlos]

Eugenia Martinez Vallejo "The Monster" Fanart

I recently read about her, Her story is quite sad and fascinating. She was born in a church and her parents were blessed by this but soon they found something unusual about her, she started growing unusually compared to other children. She had a voracious appetite and gained more weight as she grew older to the point that she became famous in nearby towns and her fame reached the Spanish Court. The fame she received in the village was not pleasant as many people would trespass into her home just to make fun of her physical appearance. To the point that her parents had to keep her hidden inside her home. She never went outdoors until Charles II of Spain heard stories about her and started to feel a great interest in her. Charles II invited her and her family to court to meet Eugenia in person. When the family arrived at court and met King Charles II. He proposed an idea for Eugenia to be part of the Spanish court. Her parents accepted this offer and began to be known as the monster. She lived with the people of pleasure which is composed of individuals who had physical deformities. Their Job is to entertain the king and the court. They were not given a salary, instead, they were given the comforts of living in the palace. Having all kinds of food and wine and wearing the best clothes. She became increasingly famous and many drawings and writings were created about her. She was described as having whitish skin and black hair. She always had a sad expression. Her body had such a volume that she looked somewhat deformed. She always walked with great difficulty almost staggering. This attracted tremendous attention from other girls at court. The other girls would watch her imitate their footsteps and even of the King. many ladies would demand her presence. She would accompany them at court events. They observed her and treated her as if she was a strange being. Charles II would display her at state diners and events. All would come far and wide just to see her. She among other people of pleasure was seen as pets. Historians speculate that she suffers from Prader-Willi syndrome. Despite the mockery she received she enjoyed her time in the palace. She received binders and expensive dresses. It is known that she was pleasant and quite healthy becoming appreciated by the royal family and the nobility. She died on the year 1699 due to her condition.

Eugenia was subjected to mockery and ridicule just because of her weight. She lived her life fully and made the best of her situation. It is so sad that fat shaming is still a thing today. The lesson of this story is not to bully others regarding their appearance.

She had two portraits painted by Juan Carreno de Miranda

As for Charles II, I have read many people making rude comments about him. Yes, he commissioned these portraits to be painted and displayed for all to see. At that time, having a portrait painted for you was a great honor for someone to have. She was used, like other jesters: madmen, blacks, dwarfs, etc. They were called "pleasure people" of the court, typical of the time. Being painted naked was weird and barbaric in the modern eye even I find it weird but at the time, It was a "rarity" and her clothing did not allow us to see her true physical state. The artist's morbidity probably influenced it, although with a minimum of dignity when adding the vine leaves. She lived practically isolated during the first years of her life, which would have greatly affected her social abilities and development if it had continued. In the palace, she did not have to worry about clothing, food, or any work that could cause injuries. Although being part of the "pleasure people" was not the best, she had a better life than he could have had outside. Charles II saved her from a life of isolation and gave her privileges. Charles II is a very compassionate and always shared a great interest in people in her condition because he knew deep down he could relate to them. We have to thank Charles, as he was one of the reasons why her story is known.

[katiemoroney]

Symptoms of Prader Willi Syndrome: A Comprehensive Guide

Interaction Empowering People is a reputable name in providing support and guidance for individuals dealing with the challenges of Prader Willi Syndrome. Contact us today to learn how we can assist you.