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?

Perhaps you can give us an agreed / shared definition of ‘birth defect’ @seekinglondonlife - and only then people can meaningfully engage.

I don’t think using the term “downs” is considered offensive- it’s the calling people downs that is
“My friends daughter is Downs” is offensive
“My friends daughter has Downs” while a little odd isn’t offensive. Many people in the downs community call it that or DS etc.
“Downs people” no
“People with downs” fine
What’s offensive about shortening a term?

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.

As others have said, my understanding is that 'birth defect' is something that is present at birth, therefore encompasses genetic issues as well as other causes. By that definition, Down syndrome is a birth defect. I think the better question is whether 'birth defect' itself is ideal terminology.

My DD had a chromosome abnormality (not DS) but I never described it as a birth defect. It is something that was present from before conception (the abnormality is already present in the egg or sperm).
Depending on who I was talking to I would either describe DDs disability as a chromosome abnormality or just say it's something she was born with. To me "birth defect" implies something that happened during the birth.

I would imagine it's the term defect that they dislike. My son has a disability not down syndrome though but I really wouldn't like for him to be referred to as having a defect. It's the negative connotations of the word people dislike I would imagine.

The word ‘defect’ is horrible in itself, but the term is intended to mean ‘present from birth’, rather than acquired later.

There is a distinction, perhaps, to be made between chromosomal disorders and other genetic differences which cause a baby to develop in a particular way, and other developmental differences which arise from unknown causes, such as a missing limb, or talipes, to give a couple of things which spring immediately to mind.

Whatever, though, I do think we should try to find a new term to replace ‘defect’, given how offensive it is. Babies are born how they are born, and they are all perfect as themselves. I can see why parents of children with chromosomal disorders, who already face significant challenges in life, might want to distance themselves from a term which implies wrongness.

Surely the word "defect" is horrendously loaded and we shouldn't be using this for any condition?
An issue caused during birth is an acquired condition. Something that occurs during development is congenital. Something chromosomal is um, chromosomal.
(there's probably a medical name for "acquired" but I can't think of it at present; my condition is congenital).

It’s certainly a ‘defect’ — the person with DS I know best has a significant heart problem, lifelong gastrointestinal issues, and has had leukaemia, besides a learning disability — though I’d wonder whether ‘birth defect’ or ‘genetic defect’ was the more appropriate term.

Ha, x-post! Or what @Wafflefudge and @MrsDeadpool said.

I wouldn’t really see cleft palate or spina bifta as a birth defect either, again already occurred in womb.
So I guess it’s just peoples own definitions.
To me ‘birth defect’ is simply something occurred at or during birth

Although I've just looked up the definition and it says any defect present at birth regardless of cause - so on that basis both my DD and anyone with Downs Syndrome would be considered as having a birth defect.

@lljkk I think you've hit the nail on the head there. Interestingly the people that I see shouting the loudest about this issue are the ones whose dc are quite severely affected, so they are on oxygen FT, have severe developmental delays and significant cardiac issues.
There's also something highly emotive about children with DS that I've never seen with any other birth condition. Do we as a society fetishize DS and put people with DS into a 'cute' and 'so loveable' box? Eg I've never seen anyone say they are so glad their dc has X condition, but many times I've heard parents say they are so glad their child has an extra chromosome.

I don’t think using the term “downs” is considered offensive- it’s the calling people downs that is
“My friends daughter is Downs” is offensive
“My friends daughter has Downs” while a little odd isn’t offensive. Many people in the downs community call it that or DS etc.
“Downs people” no
“People with downs” fine
What’s offensive about shortening a term?

This is absolutely correct, I think the PP is well intended but getting muddled.

I am a very active ally of the DS community (a sibling to be precise), I can't get worked up over people calling it a birth defect - I can understand why people might use that language, but it's just technically not quite right and isn't really used in any of the medical literature around DS. Trying to stick it on us now feels retrograde and clumsy.

@Caspianberg

I wouldn’t really see cleft palate or spina bifta as a birth defect either, again already occurred in womb. So I guess it’s just peoples own definitions. To me ‘birth defect’ is simply something occurred at or during birth

No, I think those issues are birth injuries.

@Mundra yes a few of us posted at the same time with similar thoughts.

Defect is not a nice word, nor is abnormal.

I’d wonder whether ‘birth defect’ or ‘genetic defect’ was the more appropriate term.

It's typically referred to as a genetic abnormality

YANBU. I suspect most of the people complaining don't understand how disabling DS can be.

My disability wasn't acquired though it is congenital but definitely not acquired! As others have said a birth defect means noticed at birth , not everything about medical conditions need to be upbeat and positive.

@EarringsandLipstick

I think officially downs is a learning difficulty

The term 'downs' is not acceptable to use.

How?

It's named after John Langdon Down.

How is it offensive to miss out syndrome?

@Mundra yes I totally agree that defect is a horrible word and an alternative would be better. However, should we then refer to cancerous cells as 'different cells' as 'cancer' is very loaded?
Why is it ok to call some conditions defects and not others?

But all terms can be offensive ,my son is neither defected or abnormal ,fluffing around with terminology doesn't help him in anyway .

It is a birth defect, but the problem is the connotations it gives. People tend to not like the term and find it offensive. Remember people used to leave babies with birth defects to die after they were born way back when.

Yes, it's "Down's Syndrome" or more recently "Down Syndrom" - named after the man who first fully described it, John Langdon Down. Why it's named after him is a mystery to me, given that the original terms "mongoloid" and "mongolism" were created and used by him. Given that we don't tolerate commemorations of slavers, even if they also did important work for society, I don't understand why Down is remembered in this way given the century or more of use of the offensive terms he applied.

But yes, it's a birth defect, i.e. a defect in the baby at the point of birth. The term doesn't just mean things that happen during the birth itself.