#congenital disorders

[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

You can also follow BPoD on Instagram, Twitter and Facebook

[drforambhuta]

The commonly seen congenital disorders are:

1. Down Syndrome:

• Cause: Trisomy 21 during conception, linked to maternal age.

• Characteristics: Includes musculoskeletal issues, thyroid dysfunction.

• Diagnosis: Non-invasive prenatal testing, genetic screening.

• Treatment: Personalized healthcare with early intervention.

2. Cleft Lip and Palate:

• Cause: Genetic predisposition, environmental factors.

• Characteristics: Encompasses visible and psychological aspects.

• Diagnosis: Improved prenatal diagnoses through imaging, genetic testing.

• Treatment: Surgical correction, ongoing regenerative medicine research.

3. Congenital Heart Defects:

• Cause: Genetic, environmental factors, maternal influences.

• Characteristics: Examines neurodevelopment, overall quality of life.

• Diagnosis: AI and machine learning for early detection.

• Treatment: Beyond surgery, regenerative therapies, precision medicine.

4. Neural Tube Defects:

• Cause: Genetics, maternal nutrition, environmental factors.

• Characteristics: Focus on long-term neurological impacts.

• Diagnosis: Advanced imaging, molecular diagnostics.

• Treatment: Surgical interventions, neuroregenerative approaches.

5. Cystic Fibrosis:

• Cause: Complex genetic mutations, cellular mechanisms.

• Characteristics: Beyond respiratory, digestive impacts, considers psychological, nutritional aspects.

• Diagnosis: Precision medicine, advanced genetic testing.

• Treatment: Gene therapies, targeted medications advancements.

6. Sickle Cell Anemia:

• Cause: Genetic, molecular intricacies.

• Characteristics: Examines long-term impacts beyond clinical manifestations.

• Diagnosis: Early detection through genetic testing, newborn screening.

• Treatment: Exciting prospects with gene-editing technologies.

7. Hemophilia:

• Cause: Genetic, molecular underpinnings.

• Characteristics: Broader impact on joint health, quality of life.

• Diagnosis: Precision enhanced by molecular profiling.

• Treatment: Beyond clotting factor replacement, explores gene therapies.

8. Muscular Dystrophy:

• Cause: Specific genetic mutations associated with different forms.

• Characteristics: Progression impacts respiratory function, cardiac health.

• Diagnosis: Advanced imaging, molecular diagnostics.

• Treatment: Research into gene therapies, exon-skipping, pharmacological approaches.

9. Spinal Muscular Atrophy:

• Cause: Genetic intricacies, modifier genes, environmental influences.

• Characteristics: Beyond motor deficits, impact on respiratory function.

• Diagnosis: Advances in genetic testing, newborn screening.

• Treatment: Evolving landscape with gene-targeted therapies.

10. Williams Syndrome:

• Cause: Genetic deletions, insights into neurodevelopment.

• Characteristics: Encompasses delays, facial features, cognitive strengths/challenges.

• Diagnosis: Advanced genetic testing for accurate, early diagnoses.

• Treatment: Tailored education, early intervention, cardiovascular management.

Early diagnosis of the above conditions can be made with the help of regular full body health checkups for your child. You can opt for a full body health checkup at Indraprastha Apollo Hospitals in New Delhi, which is regarded to be one of the finest hospitals in Delhi.

[angelwowings]

friendly reminder that people with C.I.P.A also can’t feel when they need to pee or when they’re hungry also can’t sweat.

and to Tourette’s; twitches ≠ tics

they’re not the same keep the difference thanks

Hope this helps ^__^

[five-thousand-loaves-of-bread]

shooting “qualifying diagnosis” down with thousand laser beams

[pigeonguy]

as someone with a congenital disorder it is so so wild to me when parents film their kids dealing with theirs…

like i can’t imagine my parents being like oh yeah my kid’s in and out of the hospital and surgery lemme just post this on the internet for everyone ever to see?

literally what are you doing because it’s not love

[andthebeanstalk]

The cool thing about a horror movie that takes place in a mental hospital and, shockingly, actually turns out to be on the side of mentally ill people is that it avoids all the common disgusting pitfalls of mocking, demonizing, and infantilizing mentally ill people.

The downside is

AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAHHHHHHHHHHHH!!!!!!!!!

[It's much scarier.]

[waugh-bao]

*

[paperboy-pb]

Okay, so there isn't good art available of *everybody* yet, but I think you should all have a little somethin'-somethin' about Matthew's class. So... there's 12 kids you need to know!

1: MATTHEW I. BOSTON -- Our protagonist! Physically disabled, even though you can't see it. Often thought of as weak. He is artsy, imaginative, sensitive, and holds a great love for life itself. Wants to leave Special Ed in pursuit of a better life, due to the abuse that many of its staff dish out.

2: ANDREA Z. BELTRAN -- Matthew's best friend! Has Dyslexia & Conduct Disorder. Seen as a "lost cause" by most. She's a bit explosive, but there's more to her than that. Andrea is old-fashioned, cynical, surprisingly caring & MUCH smarter than she's given credit for. Tends to bully their bullies.

3: MATEO-RUDOLFO ("RUDY") N. DELACRUZ -- HoH (Hard-of-Hearing) boy who's known for selling all sorts of knickknacks-- snacks, fidget toys, etc.-- to his peers. Tends to hide his hearing aids under his long hair. Allegedly crushing on Aza. Doesn't talk much, not even with ASL. But his close friends know him to be serious, organized, a little uptight, & very stubborn... with a few silly or mischievous moments here and there. >:)

4: OLIVER K. HANES -- "Frenemies" with Matthew. Dysgraphic, Dyspraxic, + some other probably-undiagnosed neurodivergence. Is ALL about tech + social media-- even filming his own vlogs, skits & pranks! Oliver is very conceited, boastful, self-centered, impulsive, and a spoiled rich boy... but not at all shallow. Will always put others first when it matters the most. Close with Jack.

5: KARL HO -- One of Rudy's friends! Has Down Syndrome + Intellectual Disability. Is often babied & lowkey excluded by others... despite being (secretly) VERY perceptive. Known to be sociable, silly, messy, & chill. Absolute gamer. Loves cartoons. Always ready to talk about girls. Sometimes makes bad choices in the name of being included, like laughing along when other kids bully Matthew.

6: AZA A. KANAAN -- Disliked by Matthew, dislikes him right back. Loved by literally everyone else. Levi's "Right-Hand Man." Aza is an ADHDer, leaning way on the hyperactive side of things. Aza is rowdy, random, & LOVES immature, vulgar shock humor. Plus anything clowncore or neon. But somehow, those closest to her claim she's also the mom friend, very loyal, open-minded, and down-to-Earth. Matthew won't believe it till he sees it.

7: JACKSON ("JACK") J. MARINE -- Matthew's #1 bully since forever! Jack speaks with a very prominent stutter, which made him a bullying target. Started various sports outside of school, as well as Karate. Thus, Jack is now tough, mean, & the strongest of the boys. Uses that status to hold himself above others. Will ALWAYS take an oppurtunity to torment Matthew for some laughs. Still only has 1 real friend. (Oliver.)

8: AMELIA MILLER -- Matthew's 2nd favorite girl! Was born with one arm. Doesn't know if she's been diagnosed with anything else. Amelia is very bubbly & soft-hearted. She loves llamas, hanging out with friends, sweets, coffee, cute boys, and pretty much anything girly. More sheltered than other kids. Doesn't have much of a backbone. Seems to fear abandonment. Usually seen with Levi & Aza.

9: WILBUR B. MORA -- Matthew's now-distant family friend. Only has one working eye, which is slowly but surely losing vision anyway due to Retinitis Pigmentosa. Wilbur is a calm, collected & peaceful math / science nerd. He especially loves animals, and can & WILL remind the teacher about the homework. Introverted, but not shy. Feels VERY held-back by Special Ed academically & tends to overwork himself at other programs, trying to fill the void.

10: AARAN PATEL -- Rudy & Karl's 3rd friend! Aaran has Tourette's, which makes him a bullying target. Not only that, Aaran's also a little awkward & VERY spiritual. He's super into Tarot cards, zodiac signs, fortune-telling, third eyes, religions, etc. And all of those factors tend to weird people out. So most don't talk to him. And they're missing out; because he's excitable, easily-impressed, and always has PLENTY to say! He also has a bit of a random fascination with superheroes & the idea of magic. Never a dull moment with this one.

11: LEVI T. TRAINOR-FANG -- Matthew's #2 bully! Claims to be his best friend despite hating him. Levi never discloses what she has, but she has implied that it's an emotion thing. Levi is an edgy, dark-minded, and cut-throat Queen-bee. Like Regina George mixed with a scene kid. Starts drama for fun & feels little remorse. While she & Jack both have the most fun tormenting Matthew as they find him to be weak & a crybaby, Levi will go after almost anyone. Her other victims include Andrea, Rudy, Amelia, Aaran, Linus, and even Jack himself. Almost everyone is terrified of her. Seems to respect Aza.

12: LINUS S. TRAINOR-FANG -- Levi's twin brother & the most disliked kid in the room! He has ADHD (Inattentive type this time!) along with Epilepsy. Linus is a gloomy yet chatty emo boy who loves writing, music, dance, & spiders. Unfortunately, he's also pretentious + overbearingly desperate to be cool. Instead of being himself or seeing others as people, he makes every trend his personality, puts people on pedestals they don't want, & refuses to talk to other "unpopular" kids like Matthew or Andrea in public. Only to be called cringe by the cool kids anyway! It's a vicious cycle that he refuses to break... and Matthew is lowkey kind of concerned.

Phew, that's a lot! It... gets easier to keep track once you see their designs, I promise, lol.

[drone182]

Update on my heart. I’m doing well so far. But this anxiety is killing me. Unfortunately my heart is slowly getting worse. I am going in for blood test to check for heart failure next week. I will keep everyone posted. ❤️❤️❤️ I will not let this stop me from doing the things I love.

To my friends and family, thank you for being there for me. ❤️

[bpod-bpod]

Abnormal Rib Development

Insight into the development of rib deformation resulting from genetic mutation of the mouse pudgy (called DLL3 in human) gene – a model for human congenital disorders such as spondylocostal dysostosis

Read the published research article here

Image from work by Frederic Shapiro and colleagues

Department of Medicine/Endocrinology, Stanford University School of Medicine, Palo Alto CA, USA

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

Published in Biology Open, January 2024

You can also follow BPoD on Instagram, Twitter and Facebook

[shittycollagen]

sometimes the disabled experience is watching people try on beard filters on tiktok being like “i look like my dad” but you try it and you don’t at all… but you know he’s definitely your dad because he gave you multiple genetic illnesses

[rahbid]

im thinking about mundane au jezebel again, that insane manic pixie nightmare ghoul

[house-of-slayterr]

Is it rare to see autistic people be adrenaline junkies?

No my love, I don’t think it is. We’re more prone to addictions of any kind. It’s not quite the same but I have no awareness for danger, so my adrenaline is basically always on edge. I do stupid reckless things because of it. Some people like that feeling quite a lot actually. Depends on what comorbidities they have as well. Like depression, BPD, you actually see it a lot in people who have ADHD specifically. I recently found out I can’t produce the stress hormone, so that probably isn’t helping on my danger sensing front

[androdragynous]

game companies should be fucking EMBARRASSED about being inaccessible. it should be mortifying to ship a game with shit captions or no UI scaling options or no option to disable flashing / strobing effects. games lauding their character customization should be laughingstocks for not including hearing aids or congenital disorders or prosthetic limbs. EA should be publicly fucking humiliated for the sims series being 23 goddamn years old and include cats and dogs and horses and werewolves and zombies and mermaids and star wars and not FUCKING WHEELCHAIRS.

[allkindsofadvocacy]

Tuesday's Children Adoption Spotlight: Sibling Pairs! Pt VI

PD: RR’s logo states ‘Reece’s Rainbow’ across center, w/ signature 3 diagonal brush strokes in blue, pink, & green. Above & below in a circle are the words ‘Special needs adoption support’. Back in July 2018, I began a short series of posts called Tuesday’s Children Adoption Spotlight. Since then, I’ve updated the post featuring listings of sibling groups of 3, as well as the post listing groups…

[cripplecharacters]

Where to Start Your Research When Writing a Disabled Character

[large text: Where to Start Your Research When Writing a Disabled Character]

So you have decided that you want to make a disabled character! Awesome. But what's next? What information should you decide on at the early phrase of making the character?

This post will only talk about the disability part of the character creation process. Obviously, a disabled character needs a personality, interests, and backstory as every other one. But by including their disability early in the process, you can actually get it to have a deeper effect on the character - disability shouldn't be their whole life, but it should impact it. That's what disabilities do.

If you don't know what disability you would want to give them in the first place;

[large text: If you don't know what disability you would want to give them in the first place;]

Start broad. Is it sensory, mobility related, cognitive, developmental, autoimmune, neurodegenerative; maybe multiple of these, or maybe something else completely? Pick one and see what disabilities it encompasses; see if anything works for your character. Or...

If you have a specific symptom or aid in mind, see what could cause them. Don't assume or guess; not every wheelchair user is vaguely paralyzed below the waist with no other symptoms, not everyone with extensive scarring got it via physical trauma. Or...

Consider which disabilities are common in real life. Cerebral palsy, muscular dystrophy, stroke, cataracts, diabetes, intellectual disability, neuropathy, multiple sclerosis, epilepsy, thyroid disorders, autism, dwarfism, arthritis, cancers, brain damage, just to name a few.

Decide what specific type of condition they will have. If you're thinking about them having albinism, will it be ocular, oculocutaneous, or one of the rare syndrome-types? If you want to give them spinal muscular atrophy, which of the many possible onsets will they have? If they have Ehlers-Danlos Syndrome, which one out of the 13 different types do they have? Is their amputation below, or above the knee (it's a major difference)? Not all conditions will have subtypes, but it's worth looking into to not be surprised later. This will help you with further research.

If you're really struggling with figuring out what exact disability would make sense for your character, you can send an ask. Just make sure that you have tried the above and put actual specifics in your ask to give us something to work with. You can also check out our "disabled character ideas" tag.

Here are some ideas for a character using crutches.

Here are some ideas for a character with a facial difference (obligatory link: what is a facial difference?).

If you already know what disability your character is going to have;

[large text: If you already know what disability your character is going to have;]

Start by reading about the onset and cause of the condition. It could be acquired, congenital, progressive, potentially multiple of these. They could be caused by an illness, trauma, or something else entirely. Is your character a congenital amputee, or is it acquired? If acquired - how recently? Has it been a week, or 10 years? What caused them to become disabled - did they have meningitis, or was it an accident? Again, check what your options are - there are going to be more diverse than you expect.

Read about the symptoms. Do not assume or guess what they are. You will almost definitely discover something new. Example: a lot of people making a character with albinism don't realize that it has other symptoms than just lack of melanin, like nystagmus, visual impairment, and photophobia. Decide what your character experiences, to what degree, how frequently, and what do they do (or don't do) to deal with it.

Don't give your character only the most "acceptable" symptoms of their disability and ignore everything else. Example: many writers will omit the topic of incontinence in their para- and tetraplegic characters, even though it's extremely common. Don't shy away from aspects of disability that aren't romanticized.

Don't just... make them abled "because magic". If they're Deaf, don't give them some ability that will make them into an essentially hearing person. Don't give your blind character some "cheat" so that they can see, give them a cane. Don't give an amputee prosthetics that work better than meat limbs. To have a disabled character you need to have a character that's actually disabled. There's no way around it.

Think about complications your character could experience within the story. If your character wears their prosthetic a lot, they might start to experience skin breakdown or pain. Someone who uses a wheelchair a lot has a risk of pressure sores. Glowing and Flickering Fantasy Item might cause problems for someone photophobic or photosensitive. What do they do when that happens, or how do they prevent that from happening?

Look out for comorbidities. It's rare for disabled people to only have one medical condition and nothing else. Disabilities like to show up in pairs. Or dozens.

If relevant, consider mobility aids, assistive devices, and disability aids. Wheelchairs, canes, rollators, braces, AAC, walkers, nasal cannulas, crutches, white canes, feeding tubes, braillers, ostomy bags, insulin pumps, service dogs, trach tubes, hearing aids, orthoses, splints... the list is basically endless, and there's a lot of everyday things that might count as a disability aid as well - even just a hat could be one for someone whose disability requires them to stay out of the sun. Make sure that it's actually based on symptoms, not just your assumptions - most blind people don't wear sunglasses, not all people with SCI use a wheelchair, upper limb prosthetics aren't nearly as useful as you think. Decide which ones your character could have, how often they would use them, and if they switch between different aids.

Basically all of the above aids will have subtypes or variants. There is a lot of options. Does your character use an active manual wheelchair, a powerchair, or a generic hospital wheelchair? Are they using high-, or low-tech AAC? What would be available to them? Does it change over the course of their story, or their life in general?

If relevant, think about what treatment your character might receive. Do they need medication? Physical therapy? Occupational therapy? Orientation and mobility training? Speech therapy? Do they have access to it, and why or why not?

What is your character's support system? Do they have a carer; if yes, then what do they help your character with and what kind of relationship do they have? Is your character happy about it or not at all?

How did their life change after becoming disabled? If your character goes from being an extreme athlete to suddenly being a full-time wheelchair user, it will have an effect - are they going to stop doing sports at all, are they going to just do extreme wheelchair sports now, or are they going to try out wheelchair table tennis instead? Do they know and respect their new limitations? Did they have to get a different job or had to make their house accessible? Do they have support in this transition, or are they on their own - do they wish they had that support?

What about *other* characters? Your character isn't going to be the only disabled person in existence. Do they know other disabled people? Do they have a community? If your character manages their disability with something that's only available to them, what about all the other people with the same disability?

What is the society that your character lives in like? Is the architecture accessible? How do they treat disabled people? Are abled characters knowledgeable about disabilities? How many people speak the local sign language(s)? Are accessible bathrooms common, or does your character have to go home every few hours? Is there access to prosthetists and ocularists, or what do they do when their prosthetic leg or eye requires the routine check-up?

Know the tropes. If a burn survivor character is an evil mask-wearer, if a powerchair user is a constantly rude and ungrateful to everyone villain, if an amputee is a genius mechanic who fixes their own prosthetics, you have A Trope. Not all tropes are made equal; some are actively harmful to real people, while others are just annoying or boring by the nature of having been done to death. During the character creation process, research what tropes might apply and just try to trace your logic. Does your blind character see the future because it's a common superpower in their world, or are you doing the ancient "Blind Seer" trope?

Remember, that not all of the above questions will come up in your writing, but to know which ones won't you need to know the answers to them first. Even if you don't decide to explicitly name your character's condition, you will be aware of what they might function like. You will be able to add more depth to your character if you decide that they have T6 spina bifida, rather than if you made them into an ambiguous wheelchair user with ambiguous symptoms and ambiguous needs. Embrace research as part of your process and your characters will be better representation, sure, but they will also make more sense and seem more like actual people; same with the world that they are a part of.

This post exists to help you establish the basics of your character's disability so that you can do research on your own and answer some of the most common ("what are symptoms of x?") questions by yourself. If you have these things already established, it will also be easier for us to answer any possible questions you might have - e.g. "what would a character with complete high-level paraplegia do in a world where the modern kind of wheelchair has not been invented yet?" is much more concise than just "how do I write a character with paralysis?" - I think it's more helpful for askers as well; a vague answer won't be much help, I think.

I hope that this post is helpful!

Mod Sasza