To say that Downs syndrome is a birth defect?

[seekinglondonlife]

I'll start by saying that my dc3 has a birth defect (chromosomal) that means he is fairly disabled. It shares a lot of overlapping characteristics with DS (learning disabilities, cardiac problems, developmental delays etc) so I follow a lot of people on SM who have children with DS.
The WHO have included DS as a birth defect (alongside spina bifida, CHD) and there has been quite an uproar and "much disappointment at WHO". As a parent with a child with a birth defect I get the label hurts when it is written down like that, and my ds' disabilities are not his definition by any means. BUT, he still has a birth defect by definition, and no amount of flowery language is going to change his health problems and long term need for care.
I posted in AIBU for traffic, but it would be interesting to engage in discussion about why some people feel DS isn't a 'birth defect' but are fine with other birth diagnoses (for want of a better word) to be defects or disabilities?

That pahe also lists conditions like cystic fibrosis etc
Of course they ard genetic all of theses or congenital
But to continue to refer to people with such conditions as defective is not acceptable today

A birth defect is something present at birth, not something that occurred at or after the birth. The main categories of birth defect are:
Chromosomal abnormality
Genetic eg congenital metabolic disorder
Intrauterine damage due to infection, teratogen etc

The challenge with the WHO is that even amongst English speaking nations what is acceptable in on country is unacceptable in another so there are conflicts in language. And then we add in all the many other languages and translations.

I have spastic cerebral palsy. It is often associated with trauma at birth but can be a birth defect. In everyday life I’m more interested in the manner People use words- birth defect, disability, spastic can be factual descriptions, ignorantly or curiously or hate speech. I can tell the difference. I’m sure a lot of disabled people or their carers can as well.

Whatever terms WHO uses From a WHO paper I’m more interested in whether governments or organisations are following up

Through the resolution on birth defects of the Sixty-third World Health Assembly (2010), Member States agreed to promote primary prevention and improve the health of children with congenital anomalies by:

developing and strengthening registration and surveillance systems;
developing expertise and building capacity for the prevention of birth defects and care of children affected;
raising awareness on the importance of newborn screening programmes and their role in identifying infants born with congenital birth defects;
supporting families who have children with birth defects and associated disabilities; and
strengthening research on major birth defects and promoting international cooperation in combatting them.

congenital anomalies will just be the next 'birth defect' phrase before it gets stigmatised

@Pollyputthekettleon1975

He's just my little boy at the end of the day. He has his own personality, his own likes and dislikes. Blonde hair and blue eyes. He's my little boy who just happens to have Down's Syndrome. We don't even think of him as having Down's now. We just see him as himself.

Well of course, hes your kid. Hes more than having down syndrome. Hes more than being little. Hes more than just a boy. Hes more than his blondeness.

For some reason we dont have to justify all the other descriptive words. Theyre ok

As I said up theeaad people get tied up knots regarding disability language my son's chromosome disorder doesn't have a name it comes under the rare chromosome disorder category to be technical he has a deletion on the short arm of chromosome 16 wether I call it a disorder or an abnormality or any other term it's the underlying cause of his complex disabilities but it doesn't define him he's still my adored child that's the way I see it anyway 🤷

If I was asked to list birth defects I don't think I'd have listed a chromosonal disorder - but several of the associated conditions I would, as many of them are also born with heart defects

I think I think of 'birth defects' as more a structural condition - as opposed to chromosonal or even cerebral palsy, caused by asphixia at birth,

Not all birth defects are a major issue though - for example my daughter was born with unilateral renal agenesis (she only has one kidney) doesn;t affect her at all

[quote seekinglondonlife]@MrsDeadpool spina bifida and cleft lip are definitely not injuries caused by birth, they both occur within 6-12 weeks post conception.

@MargotEmin I too am a big DS advocate. The posts I've been seeing though have really got me wondering though why it seems to be 'set apart' from other chromosomal/congenital conditions in a very positive light, even when those affected are badly affected.[/quote]
Fgs. It’s because DS is one of the most common chromosomal abnormalities. There is a strong community who are working to reduce stigma and emphasise living positively with DS. For those saying it is obviously a “defect” what exactly do you mean? It’s a chromosomal difference. Describing it as “defective” is a value judgment , not a matter of fact.

@Bizawit for me, my ds' condition is a defect in the sense that his chromosomes have defected away from what is the standard/normal amount that there should be. It doesn't mean he is a defect though. He is not wholly defined by this defect, but it does have a major impact on him.

I agree OP, it’s a birth defect and a disability. It can be very severe too. For some reason society likes to pretend that all people with DS are as functional as the “high functioning” people who are visible in everyday life. They don’t like to think about people with severe DS who may be so profoundly disabled that they can’t walk or talk and barely leave the house.

Proudboomer- Who decides what is normal anyway?

When it’s a fact that it deviates from standard anatomy/physiology in structure or function. It’s not subjective.

[quote seekinglondonlife]@Bizawit for me, my ds' condition is a defect in the sense that his chromosomes have defected away from what is the standard/normal amount that there should be. It doesn't mean he is a defect though. He is not wholly defined by this defect, but it does have a major impact on him.[/quote]
Your conflating the meaning of “to defect” (a verb) and “a defect” noun in your explanation there. “Defect” the noun (eg birth defect) means “a fault or problem in something or someone that spoils that thing or person and causes it not to work correctly”.

*you’re not your!

[quote seekinglondonlife]@Caspianberg lots of issues are from conception or fairly early on. Things like spina bifida, cleft lip and palate, CHD. Even many chromosomal disorders. None of them are defects of the birth process.
I don't intend this to be a goady thread BTW, more interested in why DS has a lot of emotion tied into that other birth defects/abnormalities don't.[/quote]
I’m not sure it’s that DS has more emotion tied to it, as much as it’s more common than a lot of other genetic disabilities and as such has a larger community around it so the voice is louder.
I think birth defect is an unpleasant way of describing any condition. Language around these things isn’t meant to make it seem less of an issue, but to make people with these conditions feel less like some kind of freak. I have a child with DS and one with ASD and I wouldn’t like either to be described as having a defect. Condition, disability, syndrome. There are lots of words that are much better imo.

I think you are right op. It's not a defect in the personhood of the child.
But it's a defect in the process of gamete production in the parent.

I'm not convinced the current approach of being more and more restrictive about language is actually helpful to the people it's supposed to protect. Obviously we don't want to go around telling people they are defective, but it does no one any good to pussyfoot around the actual causes of something like Downs. It's not just a difference like brown or blue eyes, it represents an error in cell division which, if it had happened somewhat differently, could have been incompatible with life.

The important thing is that we don't fail to value all kinds of different people. Which we do, quite often, and I think arguing about this kind of thing is a way of distracting from that much more difficult problem.

@Lilifer

It's factually inaccurate to call something a birth defect when it's actually a chromosomal difference which has been their from very early pregnancy and has nothing whatsoever to do with the birth process - am suprised WHO have termed it such, it's just misleading, surely a birth defect is by definition a defect caused by the birthing process ??

No, it's something that's present at birth rather than acquired later. My BIL had club feet, a birth defect, even in the womb, not caused by the birth, and not somehow acquired later.

@Obira
I agree OP, it’s a birth defect and a disability. It can be very severe too. For some reason society likes to pretend that all people with DS are as functional as the “high functioning” people who are visible in everyday life. They don’t like to think about people with severe DS who may be so profoundly disabled that they can’t walk or talk and barely leave the house
I agree, the obsession with cute, smiley babies/toddlers/young children and more capable (usually youngish) adults works to almost gloss over those who are more severely impacted by DS or those that clearly have more limited lives because they have DS. I cynically wonder why this is the case? It feels almost like groups are trying to hoodwink society (and dare I say prospective parents) about what the realities of Down Syndrome can be like?

This can be even more stalk as those with DS age and they lose their 'cuteness' and differences can become more apparent. Being a 'higher functioning' person with DS can be hard as they can be more aware of the gap between them and their peers/siblings that don't have DS. They are aware that they can't drive, live completely independently or raise a family in the same way as other people. The syndrome limits them and frustration and anger can arise. They also face ageing parents (the vast majority of people with DS live with their parents or rely heavily on them for support) and scary health related risks like early onset dementia.

All of the above is my experience of knowing middle aged people with Down Syndrome. Not cute, not smiley, not easy but worthwhile and much loved people. In a bid to not erase DS I think the movement need to be careful that they don't infact erase those that represent the less palatable side of the syndrome!

@x2boys

I also think people can get to tied up in terminology ,changes all the time when I was a child ,children like my son would have been described as mentally handicapped,,,what's acceptable terminology now ,might not be in years to come ,non if which helps the actual person with the disability imo.

Very true

@gogohm

I would personally use congenital or chromosomal to describe ds.

I describe DD's autism as congenital too as she was noticeably different from birth

There's a lot of confusion because each person has a preference of what term they "like". I think the correct terminology MUST be used to avoid confusion.

Birth defect is a medical term with an actual meaning. You can't just pretend it means birth injury because you'd prefer it to.

Surely the definition of birth defect is that something was defective at birth (or for arguments sake during pregnancy) that caused long term issue. Either way it's an awful terminology to describe anyone as defective it's certainly not one I would use to describe anyone. But anyway DS would not fit in that category as it's chromosomal. I also dislike the term learning difficulties for people who are neuro diverse. They don't have difficulty learning they learn and develop differently. And disability is such a massive umbrella term which can lead to ablest misconceptions about what disabled people should look like/behave like.

@EarringsandLipstick thank you it's not a term I use but I wasn't aware it was offensive.

My ds is autistic I would never use the term birth defect and think disabled is factually inaccurate so tend to stick to he is autistic or sometimes neuro diverse. Incase anyone doesn't know most autistic people prefer 'is autistic' to 'has autism'

One of the things I struggle with is the fact that disabled people are seen in society as lesser than people who are not disabled. So a child is born with a disability and people are sad because that that child is disabled'. But then there are some conditions ie life limiting ones, or ones with significant pain/suffering where it is sad that a person has that condition as no one wants another person to suffer but that doesn't apply to all conditions .

My asd son is amazing and I wouldn't change him at all (I'd definitely make society move inclusive though) so it saddens and angers me when people see having an autistic child as less good than having a non autistic child (this has been said to me). I feel in society we have a quite rigid view of normal and wish the world could be more open to difference and embrace it rather than condemn it.

Birth defect is a medical term with an actual meaning. You can't just pretend it means birth injury because you'd prefer it to.

^This. It is quite right that people should be able to refer to themselves, their children etc and whatever health conditions they have however they wish (different people prefer different terms, as is apparent on this thread alone), and to ask other people to also refer to them personally that way. But you can't unilaterally decide to change the meanings of scientific and medical terminology.