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 agree OP, it’s a birth defect and a disability. It can be very severe too. For some reason society likes to pretend that all people with DS are as functional as the “high functioning” people who are visible in everyday life. They don’t like to think about people with severe DS who may be so profoundly disabled that they can’t walk or talk and barely leave the house.

Nope, my sibling would fall into this group- they are still not defective. They are 100% uniquely themselves.
The human race is made up of individuals, all with their own differences and similarities. Rather than ignoring this in an attempt to group people into a homogeneous mass that can be labelled and differing anyone who falls outside of what can be narrow definitions, we should be embracing those differences and learning from them.

not read the full thread - but what does it matter to you if the DS community don't see DS as a birth defect.

It is the word defect that I take issue with, defective is just a very negative oppressive term.
If you get a new TV and it is defective you return it to the shops. why do we need such a negative word about human beings. Human beings that are more than just one thing, have value and worth and do not need to have the term defective used to describe them.

I am Deaf from Birth and some may label that as defective/broken/needing in fixing. But I am a full and equal human who can contribute and participate in society. I do not need fixing and I am not less than others who hear. Lack of access to information is a barrier that I face daily. but this is a problem with our society and how it is not inclusive to all and not me that is the problem.

In the Deaf community we have a term called Deaf Gain. that encompasses all the benefits we have due to deafness. I know that belonging to a minority community we are often oppressed but the community means that we are not alone and the DS and the Autistic communities like the Deaf community have barriers (often barriers created by man), individuals may have additional challenges such as health complications linked to or separate to the Deaf/Autistic/DS but Health challenges can happen to anyone at anytime and are not just members of those communities that are impacted.

Good post @Shtfday

I'm with you on this OP. It is a birth defect in the sense that a child is born with a physical and mental impairment, rather then it being something that develops as they get older.

If you read the definition of birth defect it is any structural change present at birth so chromasomal differences are actually a structural change in the DNA whether it's a deletion, addition or duplication, as as well as more obvious structural changes like a cleft palate or heart defect for example.

Something like cerebral palsey which is caused by lack of oxygen at birth would be a birth injury where part of the braim dies at birth but it was structurally sound before that.

Shtfday I agree that the world defect has a lot of negative connotations and dislike it also. Could do with being changed in the same way we no longer used handicapped.

I have a daughter who is severely disabled. I refer to her as having congenital defects in a medical scenario and the most wonderful and life-enhancing little girl I’ve ever known in my personal conversation.
I suppose I think of “defect” in a medical setting much like “disabled”; a description not a judgment.
Ive had people ask me in hospital waiting rooms “what’s wrong with her?” And I reply she has an unknown condition that she was born with.
The worst question (I’ve been asked numerous times by random persons in public and in hospital waiting rooms) “did you know there was something wrong with her during pregnancy “ - the obvious inference being that I should have known better than to actually let her live.
Sorry I’ve not read the full thread but there’s a real need to distinguish between medical terminology used in those settings (which arguably should be changed too) and “real life”.

Interesting timing for this two month old AIBU thread to be resurrected.

Only yesterday the US Ambassador (actually the Chargé d'Affaires who is filling in between appointments) hosted a great big party to celebrate the passing of Liam Fox's Down Syndrome Act. Which is a bit weird.

twitter.com/RoseUnwin/status/1524329504117776385

I've written about this Act and the group behind it (National Down Syndrome Policy Group) here:

www.mumsnet.com/talk/feminism/4289660-Late-term-abortion-high-court?page=35&reply=117028063

www.mumsnet.com/talk/womens_rights/4539125-more-institutional-capture-pro-lifers-this-time

This isn't really to do with DS (the Act does nothing) it's to do with abortion rights.

We tend to use the term chromosomal abnormality in LD services. They do tend to portray Downs Syndrome as cute babies and toddlers in the press and not the later time period.

A lot of 40 year olds with downs syndrome develop dementia ,I've nursed them and its so heartbreaking seeing a young person in a nursing home with people in their 80s and 90s . I never realised until I started nursing how common dementia and downs syndrome is. The heartbreaking thing is mainstream services can't cope and there isn't enough specialist services.