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?

It’s a chromosomal thing rather than a birth defect
Isn’t it too many chromosomes ?

I think officially downs is a learning difficulty

Well to me it isn’t. Down syndrome is a chromosomal difference. It’s from conception, not from any issues from birth.

Things like Cerabal Palsy could be a birth defect if caused by things like lack of oxygen during birth.

I wouldn’t say anything caused by chromosome differences is a birth defect

I think it's classed as a genetic birth defect?

Yes, I have seen this too this morning.

By the definition of 'defect' Down's Syndrome is definitely a birth defect. Surely the issue should be more around inclusivity and acceptance, than pretending that DS is not a birth defect?

But then again I don't have a child with DS or any disability, and I don't really feel I can tell parents of children with DS how they should feel or what they should campaign for.

My dd has a chromosomal abnormality, that's what I say it is. DS is a chromosomal abnormality too, not a hirth defect I'd have thought a birth defect was a thing that happened at birth?

My ds is similar to yours in that he has a lot in common with people who have downs syndrome (although he has a cleft lip/palate instead of cardiac problems). I wouldn't be offended by the word birth defect although "chromosome problems" or " learning disability " would be more accurate.

I have never assumed or thought of Downs as a birth defect. It's a chromosomal/ generic difference?

I would have thought a birth defect is specifically related to birth? If DS is an extra chromosome then by their definition every ailment a child is born with is a birth defect, even things not detected until far later, heart murmur etc..?
Maybe this is actually how it’s defined, I’m not up on this. I just wouldn’t have personally thought DS was a birth defect.

It's a chromosomal abnormality ,
My son doesn't have down syndrome but he does have a much rarer chromosomal abnormality ,and has significant disabilities and complex needs because of it

I think officially downs is a learning difficulty

The term 'downs' is not acceptable to use.

@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.

I think birth defect just means present at birth/born with, rather than acquired after?

Down syndrome is a genetic chromosome disorder isn't it ? I have a birth defect it happened as I was developing as so not genetic.

@Heatherjayne1972

It’s a chromosomal thing rather than a birth defect Isn’t it too many chromosomes ?

I think officially downs is a learning difficulty

It presents often with learning difficulties but in many cases it also presents as physical problems such as delayed growth or heart problems.

I think it is right to say that the condition is a birth defect whilst at the same time acknowledging that it does not make the person who has it any less. Unfortunately there are many who will think of those with birth defects or disabilities as lesser.

Surely the issue should be more around inclusivity and acceptance, than pretending that DS is not a birth defect?

I agree with that.

"Birth defect" means present at point of birth, so not acquired afterwards, and most are life long (can't be changed). Genetic variations can be included.

A birth defect is a structural change present at birth, that can affect any part of the body.

It doesn't mean an issue that arose during the birth as some PPs think.

So, yes, it's is correct to include Down syndrome.

@Heatherjayne1972

It’s a chromosomal thing rather than a birth defect Isn’t it too many chromosomes ?

I think officially downs is a learning difficulty

It is not a learning difficulty, part of the syndrome is 'learning disability' which is very different, and as a syndrome it encompasses much more (although what and to what extent varies from person to person)

NHS where we are refer to as chromosome abnormality, term birth defect isn't used.

@nearlyspringyay

I have never assumed or thought of Downs as a birth defect. It's a chromosomal/ generic difference?

Please use correct terminology. It's not 'downs'. It is 'Down syndrome'. It's offensive to use incorrect terminology.

My oldest doesn’t have Downs but he does have a genetic chromosomal
abnormality of which Downs is just another type of. I don’t see my child or any other child born with a chromosomal a mortality as having a birth defect. They are not defective just different.

Down syndrome like most disabilities will have a spectrum of disability
On one end there will be fairly independent people ,who have some learning disabilities but with some support be able to lead fairly independent lives .on the other end of the spectrum ,some people will have severe learning disabilities,associated health issues and need 24 hour care throughout their lives .

I think the term defect is negative and we are (or should be) inclusive.
So difference sounds more appropriate.
That said - I agree that labels or a change in them does not take away from lifelong care and high support needs which we must be honest about.
(Family member with DS and part of many forums on this)

it's like the word "normal" ... boy did I get in trouble for that on MN. I knew a dictionary definition but other people made up their own definitions.

OP says "birth defect" and people hear " That person is defective and shouldn't be loved or even exist!" There's a lot of projection.

I think the term genetic defect more accurately reflects the condition, given it is a chromosomal difference. To me birth defect implies something that occurred at birth such as oxygen deprivation. I assume WHO use the term to mean present from birth but I think some people will not interpret it that way.

@Proudboomer I'm in the same boat, but do you not agree that by linguistic definition it is a defect? My ds's heart/brain is defective according to the definition. I obviously think he is amazing though.