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?

Birth anomaly sounds better to me rather than birth defect.......but I know nothing.

I've not heard any conditions or disabilities referred to as a defect in a while. I think the WHO and similar might still use it in some writing to simplify language like congenital disorders / anomalies / malformations which are more neutral but is also language you kinda already need to know which creates its own barriers.

The only people I've known to use that language about my disabilities used it as part of their reasoning to be violent and I think the long history of that has led some to being more sensitive of such a potential warning sign especially if discussing children when disabled children are on a whole more likely to suffer abuse. Whether this is more common for DS compared to other similar conditions I don't know, but I think that's part of why some are wary about official support.

Call them whatever they choose to call themselves.

I agree with this and that there is no universal agreement on the right terms, though this seems to be about parents discussing their children's condition and how institutions should categorize these conditions so it's not quite the same.

My mother would call me defective, I call myself disabled (which I've also been told I shouldn't do largely either because others are worse or because the person assumed that meant I was giving up, either way it was more about the other person than me), though on an individual day I might call a particular part of my disability other names and I've never really followed the ever-changing categories for them.

My children are more likely to say X issues, so 'communication issues' or 'sensory issues' around the specific part that's the problem in the moment rather than use any diagnosis label or identify as disabled or similar which is an interesting shift.

isnt a birth defect something like a club foot or a cleft pallet?

@LangClegsInSpace

My question is more along the lines of why is DS a more emotive disability/difference/condition than other ones.

I think this is, at least in part, because the anti abortionists are politicising it - they are deliberately romanticising the condition.

Yes to that!

But also I think that romanticisation is more general than that.
Cute photos of children, always mentioning those adults with DS who are doing particularly well etc…
It is part if a wider movement to destigmatise people with disabilities and in particular with DS.

I’m sometimes wondering if that helps tbh. Because yes some people with DS/whatever other condition can do extremely well and handle their limitations in a fantastic way. But not everyone does. And those who don’t are just as worthy of appreciation/kindness/respect as those who do.

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 ??

Why do you say it's factually inaccurate though? If the medical definition of birth defect is a defect present at birth, then why wouldn't a congenital disorder be considered a birth defect? There is nothing inherent in the phrase 'birth defect' which suggests causation. Rather like a 'childhood illness' is an illness experienced as a child, not an illness caused by the process of being/becoming a child.

@LangClegsInSpace

My question is more along the lines of why is DS a more emotive disability/difference/condition than other ones.

I think this is, at least in part, because the anti abortionists are politicising it - they are deliberately romanticising the condition.

Absolutely.

DS is a scale as I understand it, with degrees of seriousness. Not in the actual DS diagnosis, but the things that go with it, heart problems etc, as well as leaning and developmental issues.

Same for spina bifida, which can go unnoticed or be incredibly severe and life limiting.

Nobody who chooses to TFMR is doing so because of a small or inconsequential health issue with their baby.

Tbh although the term birth defect is a bit negative /rude thing to say about someone it's not something I would personally say is worth campaigning or making a fuss about. I am more cross at the way my ds had his dla taken from him and then given back 2 years later when I got the courage/energy/determination to apply again. Compared to the constant fighting for his education and health needs etc the terminology used is very low down on my list of things to be annoyed about.

It’s my understanding that people tend to use the term “abnormality” or “difference” now.

Which is fair enough. I have a psychical congenital abnormality which cannot be seen (wrong shape womb) and hearing a doctor say you have a “birth defect” is kind of tough. I don’t think trying to be sensitive in language is a bad thing.

Whoever said that DS has been politicized by anti abortionists seems to be correct. The 'case studies' are always very positive stories and in my groups of late one particular story is going around (that I suspect isn't true) is of a man with DS who has a son (no DS) who he raised and is now a doctor, so "they are capable of anything".
I only know one family with an adult child with DS, and they are really against the "cute and loving" narrative. The daughter is about 20 now, does not have any health issues and only has minor cognitive disabilities. She is likely to lead a fairly independent life with some support but hates when people infanticide her because she's 'cute'.

"Defect" is a disgusting term when applied to people.

@Fairislefandango

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 ??

Why do you say it's factually inaccurate though? If the medical definition of birth defect is a defect present at birth, then why wouldn't a congenital disorder be considered a birth defect? There is nothing inherent in the phrase 'birth defect' which suggests causation. Rather like a 'childhood illness' is an illness experienced as a child, not an illness caused by the process of being/becoming a child.

This.

de·fect (dē'fekt)
An imperfection, anomaly, malformation, dysfunction, or absence.

I have a birth defect.
It's an internal malformation that causes dysfunction.
It formed in the formation of me genetically.
It was present from birth.
It is incurable (you can 'reform' it).

It is not visible or 'fixable' and I have no idea where posters are getting the concept that it only exists if you can see it or fix it like a cleft pallet or birthmark.

I have other medical issues that are 'defects' without any malformation but rather a loss of function such as my failing kidneys.

My kidneys are NOT birth defects, they worked fine at birth but due to illness they are now dysfunctional.

Birth defect simply refers to it being something that was defective in 'from the outset.

As for it being 'negative' if we functioned completely correctly we wouldn't be 'disabled' or any other term you wack on it.

There is no 'nice' work to say something that basically means broken, it's all just semantics.

• cant reform it

Why is defect disgusting?

@ThatsNotMyGolem

"Defect" is a disgusting term when applied to people.

It depends on how it's being applied, I think. Spina bifida is a neural tube defect, that's the medical term. It's physical, and causes catastrophic damage. It's a defect during the growth of the developing baby.

That's what I'm wondering, why is the use of the word defect seemingly acceptable for some conditions and abhorrent for others?

DS is a genetic duplication. It's from conception and not related to birth. I have boys with genetic issue,ASD, dyspraxia, language disorders. I dont have spare breath to think about things like mislableing etc. It wont change the outcomes if you call it a gift or call it a disorder.

Yes it’s a birth defect. We had all sorts of tests done during pregnancy for birth defects and Downs was one of them.

My DC has a chromosome disorder, that's how I would describe it and a phrase medical professionals have used with us. I have never used the term birth defect, never even considered it.

DC's chromosome disorder wasn't uncovered until age 12 when they had genetic testing although it was obvious before then there was something going on. It was nothing to do with their birth though.

@5128gap

I think it should be up to people who actually have DS to decide on the terminology used.

Although I agree with this in principle, unfortunately some wouldn't be able to. There are high functioning people with DS of course, but some are at the more severe end, are non verbal and need care.

I don't see why 'abnormality' is better than 'defect' tbh. Surely saying something is 'abnormal' can be perceived to be at least as offensive?

Essentially a 'defect' means a problem or something wrong - in this case with a function or a body part. We all get problems or things wrong with us at some point. Whenever that defect occurs, or whether it is fixable or not, having it doesn't mean there's something wrong with us as a person. It's not a moral judgement.

DS had Patau Syndrome and it was considered a defect I think. Its a trisomy too, just on a different chromosome

I think it should be up to people who actually have DS to decide on the terminology used.

What if they can't agree... or in some cases, understand.

Does that mean a different label rather than an umbrella phrase? Like call each ethnicity by its name, fine, but then how would you write this sentence without saying ethnic minority:

"Some people are prejudice against ethnic minorities."

What umbrella term could be used? "Brown":? "non-white" -- I mean, who would need to agree (agreement to confirmed how, and how frequently?) and how could it be phrased simply?

So same with birth defects. Fine don't use language that upsets people, but then how do you distinguish "genetic difference" (like green vs. blue eyes) from problem difference (extra chromosomes) without using a word that denotes "problem"

My sibling has downs syndrome and is definitely not defective.

They live with a chromosome difference, which means that like 100% of the human race they are unique.

They should really stick to "congenital anomalies"
Birth defect harks back to previous centuries views of anyone with a difference as defective
Whether physical or mental difference
Hence the locking people away in institutions

Disability action groups need to get onto the Who

www.who.int/news-room/fact-sheets/detail/birth-defects#:~:text=Congenital%20anomalies%20can%20be%20defined,infancy%2C%20such%20as%20hearing%20defects.