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?

I disagree. A birth 'defect' is something that occurs from the early days of development, or later in the pregnancy, like incomplete joining of the palate in cleft palate, or a congenital heart problem.

DS is a genetic abnormality occuring at the moment of conception, not something that develops (or fails to develop correctly) as the pregnancy continues.

Sorry for the term abnormality, but thats just a technical term, as in diverges from the norm, not that a DS child is abnormal, in the same way an autistic child is not abnormal, they are just different.

I have a friend with a DC with DS. I think she prefers to positively name it a chromosomal difference. She doesn't see her DC as defective or abnormal. I admit I only really know the bits I've gleaned from her and I imagine there is a wide range of abilities within DS as there is in the average person. But her DC so far has met all his milestones and attends mainstream school. They were told at birth to expect very different outcomes. She feels medics are too pessimistic about DS.

@Spaghettipie1

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

This is my understanding too

I think the word defect has a strong negative connotation which is why people are so uncomfortable with ‘birth defect’.
Chromosomal abnormality is the precise explanation/cause. It doesn’t carry the same negative connotation and more importantly it doesn’t say anything about how severely one is been affected.

I think the difference with DS is that there has been a lot of coverage on DS to portray them in a positive way. As some PP highlighted its particular true of babies/children. But I think it’s also true in some ways with adults. We tend to concentrate on those who look nearly ‘normal’ (Im thinking about articles on adults with DS marrying or having a job etc….) whilst happily forgetting about the ones who are more severely affected and will never live independently.
So you end up with this situation where DS is seen not as a disability that will have a huge impact on the person but as the cute babies/adults less affected rather than a genetic abnormality that will have a huge impact on the person life.

There simply hasn’t been the coverage and acceptance work done on any other chromosomal abnormality so people still only see the disability/hardship associated with that particular issue.

i think of defect as something that happens in the womb, ie exposure to radiation

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

is it an americanism?

@Bellringer

Defect is not a nice word, nor is abnormal.

Good grief, how much farther will this speech policing go? We end up twisting and turning to avoid any word that is not ‘nice’ (an entirely subjective judgement) or could possibly upset anyone, and end up with more euphemistic language that is actually exclusive of people who eg. don’t have English as a first language, or people with speech and language/comprehension difficulties.

Oh and the use of ‘Down’s’ isn’t offensive if it’s simply a shortening of Down’s Syndrome, FFS. It’s when people say ‘is Down’s’ rather than ‘has Down’s’ that’s clumsy and demeaning. ‘Is ASD’ grates on me for the same reason (and because it’s grammatically incorrect).

A chromosomal abnormality is exactly that - a different number of chromosomes to the normal number that homo sampiens have. It’s not a value judgement, it’s an accurate descriptor.

I'd say it's a defect of the amount of chromosomes, so I don't think birth defect is incorrect to use, but I'd probably pick something more sensitive if I was talking to people affected by this.

Honestly, I hate this argument.

Let us call ourselves whatever WE choose - stop putting labels on us and telling us we are wrong.

Don't call someone who refers to themselves as Crippled 'differently abled'. Don't call someone who refers to themselves as Insane 'mentally unstable'. Don't call someone who refers to themselves as Handicapped 'Invalid'... Call them whatever they choose to call themselves.

There's no such thing as a one size fits all politically correct word, something will offend someone.

I have a 'birth defect' (not remotely offended by the term) and I am happy to refer to it as 'retardation' because it IS (I'm not scared of people too ignorant to understand the actual meaning of the word, a word is only offensive when used incorrectly) but people tell me I'm not allowed to call MYSELF retarded like they have any say in my fucking identity and how I live with MY condition.

Frankly, as my disability is in my brain and invisible it feels like people just want to wash over it and it makes THEM uncomfortable not me.

What I hate is when people tell me the correct term is 'invalid' which I have had a few times by patient liaisons of all people... I am perfectly fucking 'valid' just like anyone else thank you.

It's there at conception, so I wouldn't say it's a birth defect.
An extra chromosome, or "Trisomy 21" as my child's paediatrician told me at birth. I didn't have a clue what he was saying as never heard that term before, until he yelled "Down's Syndrome! at me".

@Pegasussnail

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)

I absolutely agree it's such a negative word to use.

@mam0918

Honestly, I hate this argument.

Let us call ourselves whatever WE choose - stop putting labels on us and telling us we are wrong.

Don't call someone who refers to themselves as Crippled 'differently abled'. Don't call someone who refers to themselves as Insane 'mentally unstable'. Don't call someone who refers to themselves as Handicapped 'Invalid'... Call them whatever they choose to call themselves.

There's no such thing as a one size fits all politically correct word, something will offend someone.

I have a 'birth defect' (not remotely offended by the term) and I am happy to refer to it as 'retardation' because it IS (I'm not scared of people too ignorant to understand the actual meaning of the word, a word is only offensive when used incorrectly) but people tell me I'm not allowed to call MYSELF retarded like they have any say in my fucking identity and how I live with MY condition.

Frankly, as my disability is in my brain and invisible it feels like people just want to wash over it and it makes THEM uncomfortable not me.

What I hate is when people tell me the correct term is 'invalid' which I have had a few times by patient liaisons of all people... I am perfectly fucking 'valid' just like anyone else thank you.

On an individual level this is fine but how do we refer to these groups of people as a collective? I can't use "retarded" in policy or professional documents, I have to use "intellectually or learning disabled" for example.

@ClemFandangoo
I consider a birth defect as something that happens at birth. My son had Down Syndrome pretty much from conception. It wasn’t picked up during any scans.
There are 3 types of Downs
Trisomy 21
Translocation
Mosaic
We were told that my son wouldn’t have many Downs ‘traits’ because Mosaic is considered the mildest form.
Unfortunately he also has autism at the more extreme end of the spectrum so has considerable learning disabilities and complex needs.
His official diagnosis are
Down Syndrome
Global developmental delay
ASD

I always remember reading the report written by the educational psychologist, and the opening words being, "Tommy is Down's".
My heart sank before I could read any further.
I just remember thinking "No! Tommy is so much more than Down's".

Trisomy 21 means there are 3 chromosome 21s. There should be 2. So yes it’s a birth defect.
I had to terminate a trisomy 21 pregnancy that was much wanted. Of course it’s a severe birth defect- you don’t get advised to terminate for nothing.

@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?

This.

Some people will find offence in ANYTHING.

@MrsLargeEmbodied

i think of defect as something that happens in the womb, ie exposure to radiation

I think of it more as a physical thing. Like a cleft palate, or a giant mole/birthmark. I dont think its the usual word for a disability, but its not exactly wrong either

defect1
noun
/ˈdiːfɛkt,dɪˈfɛkt/
a shortcoming, imperfection, or lack.
"genetic defects"

so no imo it isn't and CP defiantly isn't
disabled people are not imperfect

This is interesting because I didn't know that was the definition of "birth defect". DS has a heart defect which I wouldn't usually call a birth defect because that makes me think of problems arising from the birth. I would usually say it's congenital. The word defect I have no problem with, but maybe that's because his is largely physical

I have a 10 year old DS with DS and yes, I often describe him as having Downs (I know the correct terminology is Down Syndrome, sorry if anyoneis offended).

I've never really thought about the term birth defect, it's never been used to describe my son. However whilst I'm not keen on the word defect it is used in a medical setting by medical professionals to describe abnormalities (also not a great word!) that occurred at conception, during gestation or during birth. There are lots of medical words I don't like (e.g. incompetent cervix) but they have a specific purpose that is universally understood. I would hope that the language changes to reflect the sensitivities of the audience.

I usually say ‘chromosomal condition’.

I have a child with what is described on his hospital notes as a ‘congenital abnormality’. It IS an abnormality, but I tend to say ‘mobility disability’ because that describes the effect on his life.

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.

I don't like it, that WHO are now referring to DS as a birth defect.

For some reason I would associate “birth defect” with something more like cleft palate or missing limb/s ie more physical things. I would have described DS as a congenital disorder or genetic disorder. But I don’t have a child with any of these issues so my knowledge of the correct terminology mat be incorrect or not appropriate.