#chromosome defect

[proudfreakmetarusonikku]

intersexist people insisting that intersex conditions are chromosomal and chromosomal only is obviously ridiculous because there are plenty of non chromosomal things that absolutely fall under the intersex umbrella but it’s also ridiculous because there’s so many chromosomal abnormalities that don't. like in their attempts to be bigoted and cruel to intersex people they also accidentally included a ton of perisex people into their personal definition. it’s absurd and ridiculous and clearly just an excuse to try and demean intersex people because it’s such a clearly arbitrary and wrong classification that falls apart with a second of thought.

[meangan-thee-lesbian]

Ain't it funny how the ♀ symbol looks like a person with a large head and the ♂ symbol looks like a dick on a head, was this intentional, were early astronomers misandrist, were we once a matriarchal society that recognised the truth of female superiority and that truth was lost to time after the fall of the greatest civilisation to ever exist

[arugula2048]

blocked someone on Goodreads for real for being so fucking stupid. How do you read Convenience Store Woman and come away thinking it was half-baked and awkward? How do you read even the premise of Breasts and Eggs, much less the full novel, and come away thinking 'oh I suppose it's vaguely about being a woman'? literally fucking kill yourself

[gay-jesus-probably]

If you know anything about chromosomes, you should know that sex chromosomes are barely relevant to a person. There's a reason it's the only form of monosomy that presents in humans - you just need one X chromosome to set up some hormone systems and whatnot, and there you go, you're viable for life. I mean, Monosomy 23 isn't great for a person, they'll probably be sterile, their bone structure turns out a bit fragile, and they'll definitely need hormone therapy to properly hit puberty, but it's a life. Which is a hell of a lot better than any other form of monosomy in humans, which comes with lethal structural flaws ensuring you don't make it to birth.

Anyways, the far more common issue with sex chromosomes in Trisomy 23, and I say 'issue' in the loosest sense of the word, because honestly it's not even a problem - we have no idea how common Trisomy 23 really is, because there's basically no symptoms, and every form of it presents about the same. As in, the first case of XXY trisomy was discovered accidentally - the man who had it was getting a karyotype test done for completely unrelated reasons, and was shocked to discover he had a trisomy.

Sex chromosomes are neat like that; since they're literally designed for everyone to have an X no matter what, the way it works is that you just need to have one X chromosome, and there you go, you've got the structural information you need, you're viable for life. The other sex chromosome (or chromosomes) is just a modifier for what configuration the reproductive organs should be in. So the Y chromosome carries very little information, since it's only relevant half the time, and the X chromosome is meant to be able to work through a redundant copy, which leads to the end result where Trisomy 23 does basically nothing. Unless you've had a karyotype test done, you have no idea what's actually going on with your sex chromosomes, and neither does anyone else.

Like... come on people, they're so meaningless. Chromosome pairs are numbered from most to least important, you know; there's a reason the sex chromosomes are all the way at the end, and that's because they're barely relevant. Humans just don't have a lot of sexual dimorphism; we're a very androgynous species.

And all that stuff about Trisomy 23 stands in very sharp contrast to the other survivable forms of trisomy in humans, which is... arguably one and a half kinds. Trisomy 21 (aka Downs Syndrome) is the best known, as it's the only other form that's really viable, since it fortunately just presents as some mild structural issues - the brain's a little scrambled, and the heart has some fundamental flaws that cut about twenty years off the average lifespan. For a trisomy patient, that's incredible. If you've got Downs, you technically lost the genetic lottery, given that you had the bad luck to get either a sperm or ova cell that'd suffered a nondisjunction during the meiosis process, but I'd argue you also won the genetic lottery, because my god your existence is a miracle, we're so lucky that the 21st chromosome pair just happens to not cover anything too vital. And you're absurdly lucky that the defective sex cell that started it all just so happened to have that specific form of nondisjunction, because if any chromosome pair apart from 21 or 23 is affected by nondisjunction during meiosis, it's extremely not good.

...Then there's also Trisomy 18, which is... hard to describe. I mean, it's amazing that Trisomy 18 cases can survive until birth, but... the structural flaws are considerably more severe, so most don't last long after that. Most Trisomy 18 patients die within a week of being born. The lucky ones get a few months or years. With constant, intensive medical care and a hell of a lot of luck, a tiny handful of patients have even survived to their twentieth birthdays... but never for long after that. There's a reason why treatments for Trisomy 18 include grief counciling for the parents. It's just... it's not good. There's a reason I said Trisomy 21 is a miracle; other forms of trisomy in humans are so, so much worse.

Except for Trisomy 23, which again, barely counts, because there are no symptoms, and so we have no idea how common it really is. Are you slightly taller than average? Congratulations, you might have Trisomy 23. Or you might not, who the fuck knows. Certainly not you!

Basically my point is, chromosomes are absolutely fascinating, but the sex chromosomes are only really interesting in the context of how irrelevant they are compared to all the other chromosome pairs. They're just not doing all that much, so there's a massive amount of room for error with no real signs. All anyone knows for sure is that they have at least one X chromosome (as that's where the important information is; no X means no life), and beyond that if you haven't had a karyotype test done, it's just wild guessing. So if you're ranting about sex chromosomes being A Big Deal... congratulations, you've exposed yourself as a fucking moron that knows nothing about chromosomes. Anyone that's studied biology beyond a high school level could tell you otherwise. Rip to all you bioessentialists but I'm cooler than you.

Context.

[ducksoup17]

hey now that it’s disability pride month can you please remember to include people with Down syndrome and other chromosomal defects into your activism. they’re so often left behind. I literally never see anyone spreading Down syndrome awareness that isn’t close family of someone with Down syndrome. They exist and they’re living breathing humans who deserve just as much activism as every other disabled person

[rainbow-banana-slug]

eye strain warning

gummy 🌈🐬

[plain text: gummy 🌈rainbow emoji🐬dolphin emoji]

(^ shark emoji not blue enough)

[id: dark skinned black person with williams syndrome in decora kei fashion walk with posterior walker. person have pink hair with rainbow bangs n all sorts hair clips in hair & stickers on cheek. have many rainbow necklace include one with double yoke egg. wear blue sweater with white cloud where one sleeve is yellow horse with pink leash thing. there many pins on sweater include gummies (gummy shark, peach ring, gummy worm, gummy bear) & green crayons & others. she wear cross body green dino plushie (bag?). rainbow vertical stripe pants with rainbow n star chain. one shoe red one shoe blue. posterior walker made of different color crayons. there text around character describe her which be functionally described below. end id]

🌈🐬.

girl (complicated gender) with williams syndrome n love decora kei fashion & bright colors (she call them happy colors/excited colors)!! she has lotssss of bows n head pieces n hair clips n necklaces n bracelets n other decoration & big wardrobe with bright colored clothing! she love wear different outfits but it consistently decora kei.

she love gummy candy & named herself after them >:) blue/red gummy worm & blue gummy shark her favorites (blue gummy shark also my favorite. to look at.)

williams syndrome (also known as williams-beuren syndrome) is genetic developmental disorder micro-deletion of some of chromosome 7. for gummy, WS lead her have moderate intellectual disability (ID) & global developmental delay, level 2 autism, ADHD-c; congenital heart defects (CHD); hypotonia (low muscle tone), & loose joints.

like many people with WS, gummy very friendly & social! she love hugs & talking to people & talk lot & very physical in show affection! but also often struggle tell when other people not want be social / be social with her, be called “a lot” & “too much,” which lead her have trouble make n keep friends n make her sad—even tho WS make her extra outgoing, she also still get sad n mad n not hide it. she also struggle with danger awareness & often treat strangers like would with friend, n it been something that her support team very focused on work with her entire life because this lead her be very easily taken advantage of n be put in danger.

also like many ppl with williams syndrome, language & verbal abilities her strong suit—tho it’s relative to her moderate ID, so one shouldn’t expect she write speak communicate like average person without struggle. her words more simple, n still need many help for communication, including various form of AAC & aide person.

she has aides that pretty much 24/7 present because WS & moderate ID but working on skills so can be more independent! it something she been work very hard on entire life n she quite proud of progress.

she has many classic facial features associate with williams syndrome, like epicanthal folds at eye, upturned nose, wide mouth & small teeth, small jaw, full cheeks (badly drawn), n large ears.

70% or more people with WS have some sort cardiovascular problem, n so do gummy. she has supravalvar aortic stenosis (narrowing of aorta) which form of congenital heart defect (CHD). hers not very severe n be closely monitored.

she also have hypotonia & loose joints due to WS & uses posterior walker full time to get around. she really like her posterior walker, it shaped like many crayons :D also wear SMOs but forgot write it so oops

art fight character profile

[reblog welcome but please no repost]

[kharmii]

XXY is a male who was born with an extra X chromosome. There are only two genders, but sometimes people are born with chromosomal defects or other factors that cause them to be born with ambiguous genitals that don't line up with their biological sex. That doesn't mean that there are more than two genders. It means that birth defects exist that affect the reproductive system. Alternate genders aren't based on biological reality, rather, they are suddenly being influenced by the current political culture.

I believe that Imane Khelif is more likely to suffer from a birth defect than be influenced by the Western world gender brainwashing due to his nationality.

Source: existennialmemes

[recoveringsoulsposts]

Women are the superior sex.

We create and nurture human life, serving as the backbone of society. Women uphold humanity and build communities. Despite centuries of degradation, oppression, and systemic barriers, we continue to surpass men. In education, women now outperform men academically. Many of the so-called “great” inventions credited to men were, in reality, stolen from women, only for women’s names to be erased from history.

Biologically, women are more valuable. We live longer, possess stronger immune systems, have higher stress resilience, and are genetically more stable due to our two X chromosomes, which provide genetic protection. Women are essential for the continuation of the human species. Societies with a high female population are more peaceful, stable, and harmonious. Even Mother Nature favors women—during times of extreme stress and famine, female fetuses are more likely to survive. A woman’s body will naturally abort a male fetus, as the XY chromosome is expendable and worthless. Men die earlier, have weaker immune systems, are more likely to be born with birth defects, and are more prone to genetic disorders. I truly believe Males shouldn’t even exist in the large numbers they do currently.

Male value has always been artificial and manufactured. Men by default are more of a burden to the world than anything. Men commit most violent crimes and engage in anti-social behaviors. Prisons are male-dominated, creating a financial burden on governments. A surplus male population leads to increases in human trafficking and social unrest. The effects of China’s one-child policy serve as an example—after the mass murder of female infants and the artificial skewing of the gender ratio in favor of males, China now faces a 30-million-surplus male population. In almost all species, having a high male population is unnatural. As a result, China is experiencing increased human trafficking, rising crime rates, an aging population, and social instability. Males shouldn’t even exist in such large numbers. At birth, males are expendable and worthless by default. A surplus male population is more detrimental to society than anything else. The more you overvalue Men’s natural worth and undervalue Women’s natural worth, patriarchal societies will continue to reap what they sow, and find themselves in this situation. In an artificial, man-made society, system may favour men however nature, biology and the truth will always be on the side of women.

If males were truly superior, as they claim, they wouldn’t need to constantly remind us of their supposed superiority or use outdated systems of power to justify it and claim that ‘men built the world’ when women were deliberately excluded from participating in society and denied access to resources, making us artificially dependent and forcing us to rely on men for survival and to deal with males in the capacities Women have been forced to deal with them. Yet, despite all the rape, torture, humiliation, and abuse women have been subjected to at the hands of men, along with the oppression and discrimination, women have closed the gap within just a few decades and are now outperforming men. As soon as women regain even a small fraction of our rights, we excel, outperform, and thrive

Men’s survival depends on women, not the other way around. There is no metric in which single men outperform single women. Men need women far more than we need them. Men are confirmed parasites, and women are the hosts. Men suck the life out of women, benefiting from relationships and close proximity to Women. Everything they say against women is merely a projection of their own deficiencies, lack of value, and worthlessness. Remember Women brought these men into the world, and women can just as easily choose to stop bringing these men into the world.

[todaysdocument]

Memo for President Jimmy Carter from Jack Watson Regarding the Love Canal

Collection JC-SSO: Records of the Office of the Staff SecretarySeries: Presidential FilesFile Unit: 5/21/80 [1]

[blue ink] THE WHITE HOUSE

WASHINGTON

[henceforth black ink]

May 20, 1980

[penciled in what appears to be a capital letter C which is underlined]

MEMORANDUM FOR THE PRESIDENT

FROM: JACK WATSON [name Jack is handwritten upwards from left to right in blue ink]

SUBJECT: [underlined] Love Canal

As I reported to you on Saturday, we are faced with a volatile situation in Niagara Falls, New York, as a result of the public disclosure of a chromosomal study conducted in the course of the federal lawsuit against Hooker Chemical Company.

As a result of several meetings in the last three days with all the relevant federal agencies, I am now prepared to recommend to you that, if the Governor requests it, we declare Love Canal eligible for emergency assistance (under the authority of FEMA) to permit the temporary relocation of approximately 750 families in the immediate Love Canal area. The principal reasons for this recommendation, in which Justice, EPA, HHS, FEMA, SBA, HUD, OMB, and DPS concur, are as follows:

o The chromosomal study, whatever its ultimate significance, is one in a long list of pilot studies that have been done on the health and environmental effects of the Love Canal waste site during the last two years. For example, New York State has preliminary studies substantiating adverse reproductive effects; one doctor's studies showing high incidence of miscarriage and birth defects; and other health professional's research indicating peripheral nerve damage. Although all of these studies require further empirical and scientific verification, the adverse psychological effects on the people who live around Love Canal of this endless barrage of "expert" speculations about how they have been, and are being, damaged, are hard to overstate.

o In addition to the health studies, environmental studies conducted by EPA indicate that the quantity of hazardous chemicals present at the site represents the largest volume of hazardous wastes to which any population is known to be exposed. In addition, the range of hazardous chemicals a Love Canal is the widest that has been encountered in any one site anywhere in the country.

-2-

o The FEMA statute gives us the flexible authority we need to respond to the situation and makes New York state take the lead responsibility for the temporary relocation.

o The State will share the costs of the temporary relocation and will work closely with FEMA in actually relocating the families.

o As you know, you declared Love Canal eligible for emergency assistance in 1978. As a result of that first declaration, 239 families were relocated; we are now recommending relocation of the additional 750 families who reside within a well defined area and who have been the subjects of the recent studies. Although the Governor may include in his request for emergency assistance a request for federal assistance in both the temporary [underline] and [end underline] permanent relocation of the affected families, we have made absolutely clear to the Governor in telephone conversations this afternoon that the Federal government has no authority to buy the peoples' homes or otherwise to [underline] permanently[end underline] relocate them. We have told the Governor that [underline] if [end underline]you were to approve any further federal emergency assistance, it would cover underline] only [end underline] temporary relocation along the lines outlined above.

The understandable concern and anxiety which have been precipitated by this most recent study require, in our judgment, an immediate response. If you approve this recommendation to give the families emergency relocation assistance, we will work with the State [underline] tonight [end underline] to draft a request from the Governor to you. We would announce jointly with the State tomorrow that:

-- We are both amending our lawsuits against Hooker Chemical Company to add these additional costs of temporary relocation to the amounts already being claimed against Hooker in the pending litigation;

-- We are immediately undertaking further scientific studies to assess the nature and extent of the health damage and risks as precisely as possible; and,

-- In the meantime, we are responding prudently and immediately to the human need which is so evident at Love Canal.

Approve______ [checked in pencil and what appears to be the letter J] Disapprove________

See Me__________

[vulvere]

Wtf does an uneducated MRA have to do with a conversation about atrocities men have committed against women 😂 think I've a bit more to do with it than you ye stupid wee ballbag

[cripplecharacters]

hello, i want to write a protag with down syndrome and i was wondering if you have any previous ask/links about how to go about it? i dont know what their mental capacity or function is like, is it similar to the autism spectrum?

Hi asker,

This is mostly a research question. I appreciate your ask, but I want to clarify that we generally don't answer purely research questions.

I will provide you with some links. We also do in fact have a #Down Syndrome representation tag, as well as an #intellectual disability representation tag, which is relevant because pretty much people with DS are also intellectually disabled. (The main exception is likely people with mosaic DS, in which not all their cells have an extra copy of the 21st chromosome.)

There's a pretty big variation on the abilities of people with DS. You could probably meet a bunch of people with it, and some will live on their own and have a job, and some will need 24/7 care, and some need someone to come help them twice a week, and some can only do a very simple job by themselves and not much else. And they still all have the same condition. This will vary based not only on their mental abilities, but on their physical abilities as well. DS is not exclusively a 'mental disability,' it affects the body.

I'm going to broadly answer the "is it similar to the autism spectrum" question.

Down Syndrome is diagnosed and defined by a genetic marker that affects both physical and mental development. Pretty much all people with DS are intellectually disabled. About half have heart defects that need to be corrected, because heart defects can be fatal. Many have hypotonia, and/or hearing loss, and/or visual conditions. I think this is often forgotten about.

Meanwhile autism is diagnosed behaviorally. It's defined by social & communication difficulties and restrictive behavior. About a third of autistic people are also intellectually disabled, which means it's common but not automatic. Autistic people can have some physical health problems that are common, but they are not linked in the same way as DS’s physical disabilities are.

They both are pretty common disabilities, they both can have a pretty wide spectrum of abilities, but they're ultimately not inherently super similar other than they are developmental.

Here's some links:

About Down Syndrome from the National Down Syndrome Society

About Down Syndrome by Down Syndrome International; this page has various links

Facts and FAQs about Down Syndrome by Global Down Syndrome Foundation

Down Syndrome by the US's CDC

Intellectual Disability Overview by the Cleveland Clinic

Intellectual Disability and Health by the University of Hertfordshire.

Hope this helps,

mod sparrow

[queergutz]

❀ A little possum approaches with a gift!

{PT: A little possum approaches with a gift!}

❀ Disability Pride Flag Recolors (And Additions!)

{PT: Disability pride flag recolors, and additions!}

❀ Stripe Meanings:

Purple - Degenerative Disorders / Aging ; ex. loosing vision through your life, worsening joint pain, chronic illness, developing Alzheimers. As far as I’m aware, degenerative disorders can be acquired at any point in life, not just with old age- but the two often are related, hence why I included them together.

Red / Teal - Trauma / Injury ; ex. loosing use of limbs following an accident, mobility issues, anxiety from traumatic events. Red is commonly associated with trauma and injuries, but teal is the awareness color for a large majority of traumatic experiences, so I didn’t want to exclude it.

Yellow - Natural Variation ; ex. Autism, learning disabilities, motor disorders. I suppose this category means disorders present since birth/form in early childhood, and can be seen as just evolution causing variation. Help clarifying this would be appreciated!

White - Complex, Unknown, and Hidden Disabilities ; self explanatory- disorders with complex causes, invisible to others, and just being disabled but not knowing what disability! Catch all for every disability as well :)

Mint Green - Genetic ; ex. Down syndrome, chromosomal disorders, asthma, cystic fibrosis, scoliosis. Similar to natural variation, but for those who prefer to identify it more as disorders or disabilities, instead of being ‘different kinds of people’, and conditions that present later in life.

Blue / Indigo - Situational ; feeling as though you’re no different from others, and the real disability is a lack of accommodations. Inspired directly by the post referenced below, which explains it much better than I can. Additionally, this could also include episodic disabilities like epilepsy, bipolar disorder, or reoccurring illness.

Green - Environmental / Illness ; ex. getting asthma following severe respiratory illness, nerve damage from cancer, birth defects from dangerous conditions during fetal development. This can also include seasonal disabilities, like seasonal depression or pollen allergies.

Grey - Rage about those who have suffered as a result of discrimination, same as the original meaning.

{PT: Stripe meanings. Purple, meaning degenerative disorders or aging. Examples include, loosing vision through your life, worsening joint pain, chronic illness, or developing Alzheimers. As far as I’m aware, degenerative disorders can be acquired at any point in life, not just with old age- but the two often are related, hence why I included them together. Red or teal, meaning trauma or injury. Examples include, loosing use of limbs following an accident, mobility issues, or anxiety from traumatic events. Red is commonly associated with trauma and injuries, but teal is the awareness color for a large majority of traumatic experiences, so I didn’t want to exclude it. Yellow, meaning natural variation. Examples include, autism, learning disabilities, or motor disorders. I suppose this category means disorders present since birth, or in early childhood, and can be seen as just evolution causing variation. Help clarifying this would be appreciated! White, meaning complex, unknown, and hidden disabilities. Self explanatory. Disorders with complex causes, invisible to others, and just being disabled but not knowing what disability! Catch all for every disability as well. Mint green, meaning genetic. Examples include, down syndrome, chromosomal disorders, asthma, cystic fibrosis, or scoliosis. Similar to natural variation, but for those who prefer to identify it more as disorders or disabilities, instead of being different kinds of people, and conditions that present later in life. Blue and indigo, meaning situational. Feeling as though you’re no different from others, and the real disability is a lack of accommodations. Inspired directly by the post referenced below, which explains it much better than I can. Additionally, this could also include episodic disabilities like epilepsy, bipolar disorder, or reoccurring illness. Green, meaning environmental or illness. Examples include, getting asthma following severe respiratory illness, nerve damage from cancer, or birth defects from dangerous conditions during fetal development. This can also include seasonal disabilities, like seasonal depression or pollen allergies. Grey, meaning rage about those who have suffered as a result of discrimination, same as the original meaning.}

The meanings of each of the stripes is inspired by this post by @ipso-faculty , which i highly recommend looking at, as the meanings and definition are detailed and fascinating! The colors are based on the awareness ribbon colors/general associations. My version is meant to represent the origins, causes, or unique factors for categories of disabilities. Additionally, I’ve also included different forms of disability at the bottom for those who prefer the original meaning, but ipso’s comment really stuck out to me and i resonate with deeply.

“It’s been my experience of disability community that attitudes about disability tend (in general) to be linked more to when/how we were disabled rather than mental/physical/sensory/etc.”

The disability models confused me upon first research, so until I understand more, they aren’t explicitly included- though including them in the future would be nice! And to me, the cause of my disabilities greatly affects how i feel towards them. For example, my autism has always been a part of me, and I can’t imagine myself without it- but my OCD developed from childhood trauma, and I remember a time before I had it, and wish to be like that again. The distinction is important to me, even if not to anybody else.

These flags were made for fun, and I haven’t directly referenced or spoken to other disabled people about the color meanings and representation. If you have things to suggest, please do so! I’m learning, and would love to make this more accessible!! Just please be nice!

{PT: These flags were made for fun, and I haven’t directly referenced or spoken to other disabled people about the color meanings and representation. If you have things to suggest, please do so! I’m learning, and would love to make this more accessible! Just please be nice!}

And, in reference to the second flag, alternative meanings! Indigo for neurological, purple for psychiatric (in reference to mad pride), yellow for neurodivergence, white for invisible disabilities, mint green for sensory (because mint green gives me good visual sensory), teal for medical (not meaning how doctors treat disabilities as things to be fixed. I specifically mean disorders that arent visible externally but are still very much physical, such as hormonal disorders. Chosen with my mom in mind.), and green for episodic disorders! Unless clarified, theres no explicit reason a disability category was assigned to a given color, (aside from previous or common associations), and was chosen based on vibes. Indigo just feels like a neurological color to me.

Tagging: @radiomogai (thank you for the permission!! Hopefully you dont mind :D)

[ourladyoftheflytrap]

You can determine the sex of a baby as early as 11 weeks with CVS. This is first trimester, a time many people agree is most acceptable to have an abortion.

you don’t realize how male centered a lot of women are once you tell them you only want to have baby girls. my female family members were so offended when i said if i were to have children i only want to have daughters.

[brittanyearnestauthor]

How to Effectively Write About Human Defects

Writing diverse characters is essential for creating stories that resonate with a larger audience and reflect the complexity of the real world. When portraying characters with birth defects or genetic conditions, it’s important to approach the subject with care, accuracy, and respect rather than relying on stereotypes or harmful biases.

One key point to remember is that individuals born with a birth defect are not "defective"—they simply experience life differently and deserve to be written thoughtfully and respectfully. To help guide your writing, I’ve compiled a list of common conditions and considerations to keep in mind. While this serves as a starting point, further research will be necessary to accurately represent these experiences in your stories.

Types of Birth Defects

- Cleft Lip or Palate – A gap or opening in the lip or roof of the mouth.

- Congenital Heart Defects – Structural abnormalities of the heart present at birth.

- Neural Tube Defects – Issues in brain and spinal cord development, such as spina bifida.

- Limb Abnormalities – Structural differences in arms, legs, fingers, or toes.

- Chromosome Abnormalities – Genetic variances involving too many or too few chromosomes or structural chromosome issues.

- Down Syndrome (Trisomy 21) – A chromosomal condition caused by an extra copy of chromosome 21.

- Fetal Alcohol Syndrome – A birth defect caused by prenatal alcohol exposure, affecting development.

- Sickle Cell Anemia – A genetic disorder affecting red blood cells, often leading to pain and health complications.

- Inborn Errors of Metabolism – Genetic conditions that prevent proper processing of certain substances.

Causes of Birth Defects

Birth defects can arise due to several factors:

- Genetic Factors – Mutations or inherited conditions.

- Environmental Factors – Exposure to harmful substances or infections during pregnancy.

- Unknown Causes – Some birth defects occur with no identifiable cause.

Prevention and Early Intervention

While not all birth defects can be prevented, certain steps can reduce risks and improve outcomes:

- Prenatal Care – Regular checkups help identify potential risks early.

- Genetic Counseling – Genetic testing and counseling can provide insights for families at risk.

- Avoiding Teratogens – Steering clear of alcohol, tobacco, and harmful medications during pregnancy reduces certain risks.

Understanding Life with Birth Defects

Birth defects are common and a natural part of life. While individuals with these conditions may navigate certain challenges, many live full, fulfilling lives like anyone else. Some conditions may be inherited, while others result from environmental influences or a combination of both.

The severity of birth defects varies widely—from mild to complex—but medical advancements and adaptive strategies help many individuals thrive. In storytelling, highlighting their strengths and unique experiences rather than only focusing on limitations can create authentic, meaningful representation.

Conclusion

By using this guide as a foundation and continuing thorough research, you can craft inclusive, realistic characters that reflect the diverse experiences of real people. Thoughtful storytelling offers representation, encourages understanding, and helps amplify voices that may not always be heard.

Happy writing!

[misandresther]

i don’t know if your a man but you definitely have the balls to go against lgbtq and defend jkr, especially on tumblr a well known lgbtq popular website

I meant it it really takes courage, after a less pleasant encounter with a trans when I was 15yo it’s a community I actively hide from

I'm a woman, who runs a radical feminist account, and you thought i'd be anything other than a woman?!

I like women, i'm part of the LGB, and i don't support the troons and their crazy delusional community. A woman is a biological woman with a vagina and XX chromosomes. A man is a biological male with a penis and a defective Y chromosome. It is as simple as that.

As it happens, JKR is a wonderful woman and a successful published author, and i agree with her takes. She is the courageous one, stating her opinions so publicly and never wavering, even after receiving daily threats and being compared to fascists and war criminals.

Hiding from people might work for you, but it is not a solution.

[feminismisstillahatemovement]

To circle back to soemthing from early : The writing of male characters by female writers have repeatedly made me stop reading , especially when I recongized what I like to call the 3 archetypes : The friend , the jerk and the lover , sometimes these mix together but rarely.

The lover : mostly found in YA novels but sometimes adult and potentially pre-teen aimed romances of stories , a guy who seems prefect in description and rarely if ever does anything to hurt or offend the protagonist who is usually a stand in for the writer. the few negative things you can say about him out of the story are treated either as quirks or endearing qualities by the end. Sooner or later the emotional sensitive side is revealed and boom even if they were "The jerk " they're now considered redeemed or potentially redeemed by love. Big example (and the most obvious ) Edward Cullen and Christian Grey are those.

The friend: usually nerdy , kind of fades into the background at a certian point after the protagonist is with the lover, is clearly romantic interest of the protagonist if it's a YA situation , but these feelings are unrequited, they're soundly rebuffed of admitted or it's ultimately a "you have to look into how they're written " to tell. If written at all back in, it's usually to help the protagonist get to the lover & usually ends up with a lover that's either very much like the protagonist , potentially the protagonist's best friend or family member, or someone completely unlike the protagonist. Big example :Jacob from Twilight

The jerk : the bad boy who may be at first seen as an antagonist/working with the antagonist, usually does soemthing notably evil in their first big solo scene. But then that slowly gets walked back especially if they're the lover by the end. Even if they don't end up as the lover they've been given enough pathos that some fans will even say they want the leading protagonist with them or will write oc self inserts trying to help them get better. Possibly may die at the end to help make sure the protagonist lives or ensure the big plan succeeded. Big example : Snape from Harry Potter.

Mind you these aren't solidified hardened absolutes. I'd definitely say, however ,if you look at like 5 or 6 female written stories especially multi book series where it's female character going on an adventure almost all the male leads who are the woman's age who aren't relevaties commonly fall into those 3.

Yes.

Of course, there are a bunch of cliched and awfully-one-dimensional female characters in most male-written fiction too, but for me the biggest difference is there have always been women, in every age, wondering aloud about how a particular male author writes women so well, whereas I really don't think I've ever read any male character in any work by any woman that feels believable and an accurate representation of the internal thoughts, behaviours and motivations of a man that I've been able to connect to. I don't think women are really capable or all that interested in truly understanding the Y chromosome experience, and so their male characters tend to read only like either slow-witted and defective women, cartoonish mustache-twirling villains or alabaster objects of wealth and success. Because of this, the women authors I like I tend to read for what they tell me about their individual female experience, not for what they tell me of the wider world outside of it.