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?

My ds has autism and severe learning difficulties, I've never really considered it to be a birth defect but it is something he was born with so would be considered to be.
I hate the negativity of the term ..........who wants their child labeled as being DEFECTIVE from the moment they are born.........it's horrible!

When people say that terminology is now out of date and offensive,who have they consulted with have they asked parents or carers what terminology they would prefer or the person themselves with the condition ( if they are able to give an opinion ) or do they just decide that it's offensive ,non of this helps my son .

@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.

I don’t like the words defect or abnormalities because of the connotations and wouldn’t want to hear it except when someone is talking about it in a medical sense. So much of the language of disability in a medical sense is outdated and offensive. When I give the medical definition of my daughter’s condition on here, posts have been deleted.

But mostly, it is one thing for a person to say “I (or my child) have a birth defect” and quite another to decide you are free to use that term for someone else. Language around disability is so personal, it is wrong to suggest any term is fine to use for everyone.

No, I think those issues are birth injuries.

I don’t think so. Injuries are something that is caused by birth trauma. Neither of those are.

@EarringsandLipstick

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.

That’s what I thought. Any defect present at birth.

As a PP said “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.

Hmmm. This is a good example of public bodies (WHO in this instance) over simplifying things. 'Birth defect' is perhaps not accurate, it's congenital defect, meaning anything that happens from conception to birth but excluding birth injuries. It also maybe needs clarifying that the word defect refers to something that has gone wrong in the process between conception and birth, not that the child concerned is defective by definition. Because they aren't! It's all a bit odd because WHO generally refers to congenital anomalies, rather than defects which is a much better and more neutral way of putting it.

@seekinglondonlife - I guess because it’s one chromosomal thing that does have such varied outcomes. Some other are all pretty much incompatible with life ie 99.5% die at or before birth. But Ds really can have a positive life and outcome for many, so people don’t want it labelled as ‘bad’, as it isn’t for some.

The term birth defect is very blunt and I do understand why some people find it hard.

@LowlyTheWorm

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?

There was a time when you were supposed to say 'people with disabilities' instead of 'disabled people'. Then it changed back to 'disabled people' because now the idea du jour is that they are disabled by society. I can understand someone having heard his and understood that you should no longer say 'people with...'. It's really hard to keep up with the right terminology.

I didn't realise that the term "birth defect" was used in any sort of official capacity.

I sort of get it during pregnancy in some circumstances, but surely once the person is born and living their life, it seems very harsh and unpleasant to say they are defective. I would feel like I was insulting someone if I told them they had a birth defect.

Not sure really. I would imagine s birth defect is something that happened at birth, not in formation.
DS is disabled and is referred to as having a congenital abnormality. I’m not arsed what people call it personally, it doesn’t change anything.
I think Down syndrome is viewed differently for some reason, like people campaigning to not have screening so it isn’t eliminated. I love my DS but if I could have chosen for him not to have a disability I would.

@Caspianberg, so many chromosomal conditions have a spectrum, it certainly isn't exclusive to DS. Even the "incompatible with life" ones can have varied outcomes. Babies with Edwards syndrome for example can live for years.

Of course it is a birth defect! You are born with it!

"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 think you have these arguments about autism as well. Some people see it as a positive rather than a negative even though it has traditionally been considered a disorder.

[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]
Sorry, you misunderstand me. I meant that injuries received during birth aren’t birth defects.

I am well versed in chromosomal disorders and spina bifida.

Just to complicate things, my DD was medically classed as born with a congenital heart defect, however it was more correctly a change in the heart structure that should have happened when she started breathing didn't happen. The consultant explained that it was defined as congenital even though before she was born she didn't have it and it wasn't a birth injury.

My DD's heart was definitely defective. She was never 'defective' though.

I am in no way an expert on terminology, but to me a birth defect is a small abnormality that a baby is born with like an extra toe or a pointed ear, as opposed to a condition that affects their life to a much greater extent.

I too would have thought birth defect was something that was a result of what happened at birth, not necessarily any condition you're born with, but if spina bifida etc are then I suppose so are chromosomal differences. It doesn't seem like a very precise definition then though. But perhaps it doesn't need to be.

Certainly no one's ever referred to my friend's little boy who was born with a heart condition as having a birth defect, but I assume by this definition he would have, even though it was detected before birth?

I think some of the positivity towards DS is because of the perception that people with DS are always happy. People use this to gloss over the condition.

Defect or abnormality might be sort of accurate, but they imply an inferiority, a lessening if the person as being wrong, broken, substandard. Most birth differences, be it a cleft palate, heart issues, limb differences through to severe and lifelong genetic or chromosomal syndromes, are just that - differences in the way our bodies and brains look and work. All people, regardless of differences should be valued equally, and the terminology and language used in this situation is fundamental to this, and educating people to this end. We remove negative terminology in many areas where equality is to the forefront, and this should be no different.

[quote Caspianberg]@seekinglondonlife - I guess because it’s one chromosomal thing that does have such varied outcomes. Some other are all pretty much incompatible with life ie 99.5% die at or before birth. But Ds really can have a positive life and outcome for many, so people don’t want it labelled as ‘bad’, as it isn’t for some.[/quote]
There are thousands of chromosome abnormalities ,lots if people have a chromosome ,deletion , duplication, translocation etc ,many people won't know as it doesn't affect them or only affects them mildly ,my son has a chromosome deletion we only found out as he has severe autism and learning disabilities ,and he had blood tests to see if there were any underlying reasons ,unless it affects your family ,most people are not aware of rare chromosome disorders/ abnormalities

Maybe apparent at birth is a better descriptor? And then we wouldn't have the umbrella term and we could just use "condition " names. I mean the I do have a defect and I'm fine with that but I can't speak for everyone, putting a constant positive spin on disability is abelism imo.

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

Wikipedia says (citing a government document which cites WHO document):

Abirth defect, also known as acongenital disorder, is a condition present atbirthregardless of its cause.[3]Birth defects may result indisabilitiesthat may bephysical,intellectual, ordevelopmental.[3]

A birth defect doesn't mean a condition caused at birth.

@seekinglondonlife I think perhaps you feel that parents of children with Down Syndrome are objecting to being grouped with other birth defects but I think it's the terminology itself they dislike. Obviously I don't know that for sure as havent seen the discussions you are referring too but that would be my instinct. The dictionary definition in every day language of defective is broken or faulty so surely its understandable that people might not want their child labelled in that way.

I have a dd who's official disability is:

Congenital amputation defect of the left arm below elbow.

In real terms it's she was born missing her left arm between the elbow and wrist.
It is a defect she was born with. Not quite sure it is a birth defect as it wasn't caused by the birth, but I think that is splitting hairs.

Yes, writing defect about my darling daughter feels harsh. She is amazing as she is.
But it is a defect. It's a difference from the normal which in a perfect world would never happen.

Calling it "a birth difference" is less harsh, but actually I like it less. Difference isn't a good thing. You wouldn't say "my child's birth difference is the mop of beautiful curly hair".
And being excepted by the norm, not being seen as different is important.