Bits and Bobs about Down Syndrome

Erveything you ever wanted to know about Down syndrome but never dared ask…

As October is Down syndrome Awareness Month, I’ll be adding facts about Down syndrome, hopefully daily. Enjoy. Comment. Ask. xx

Fact 1: The basic of basics
So, you all know that your genetic makeup is held in 46 chromosomes (23 from dad and 23 from mum), right? In pairs nicely numbered from 1 to 22, each tasked with a very specific job to do, with the last pair determining your gender (female if XX or male if XY). So far, so good?

Now, individuals with Down Syndrome have 47, not 46 chromosomes. How?
Without going into too much details, at the moment of your conception, your mum’s egg cell should have one chromosome for each pair (so, 23 in total), your dad’s sperm cell should also have one chromosome for each pair (the other 23 chromosomes): for example, chromosome number 7 from dad should go straight to chromosome number 7 from mum and hence make a new pair of chromosomes number 7 and so on and so forth until you end up with your own brand new 23 pairs which is basically your blueprint, yes?

Well, all sorts of glitches can happen during that very delicate process, and one of them bears the name of Down syndrome, or Trisomy 21. You see, sometimes, mum’s egg cell (or dad’s sperm cell) has got 2 instead of just one chromosome 21, and they team up with the other chromosome 21 from dad’s sperm cell (or mum’s egg cell), and so, you end up with 3 copies of chromosome 21. That’s why Down syndrome is also called trisomy 21!!

The consequence of the presence of that extra chromosome is that the precise jobs to be carried out by pair 21 get all muddled up, just like too many cooks in a kitchen and it can have a bit of a ripple effect on all the other pairs too…
Sometimes it’s just a little bit muddled up, sometimes a bit more, sometimes a lot more…
.
There, now you know…Sorry, nothing to do WHATSOEVER with what mum ate when she was pregnant, the outrageous position at conception, your social status , your geographical location, your ethnic background or even KARMA!!!!!

Fact 2: Down syndrome or Down’s syndrome?

Just to clarify, you may have wondered why there seems to be 2 different spellings of the same condition, and even a completely different terminology! Now be warned, as at some point you may come across people who are extremely sensitive about which one THEY believe is the RIGHT and ONLY one:

Down Syndrome: mostly used in the USA and Australia, for their own valid, logical reasons.

Down’s syndrome: mostly used in the UK, for their own valid, logical reasons.

I honestly couldn’t care less about the presence or absence of an apostrophe tied up to an “s”, I’ve got bigger battles to fight (like how to deal with that extra chromosome) and bigger dreams to chase (like full inclusion and validation of my child throughout all of her life stages!).

I don’t mind and respect whatever spelling you opt for, but personally, when given the choice, I will always go for the more practical one (call me lazy 😜): Down syndrome.

If in doubt, just use DS…(it’ll keep you out of trouble) or Trisomy 21 (it’ll make you sound really smart). 💖

Fact 3: Let’s not forget there’s a link between #WorldMentalHealthDay on October 10th and Down syndrome!!

Photo credit: Murat Ozkasim

Be warned, it is a hard read and thought provoking. We just hope it will suddenly wake you up and make you smell our coffee….🤔
You see, we feel a bit confused. It seems that nobody cares much about the mental health of adults with DS.
Bear with us: 1/They are raised in families now instead of mental institutions. Brilliant! 😀= They are deemed as worthy by their loved ones, right? 2/ They are finally given free and indiscriminate access to health care. Fabulous! 😀= They are deemed worthy by society, right? 3/ They are at long last given free access to education.Hurray! 😀= They are deemed worthy by the government, right?.
And yet, many a times, they’ll turn the radio or the TV on, or leaf through a magazine, and BAM!, it’s in their face and ears, again: debates and endless arguments on how wonderful it is that soon there will hardly be any individuals like them in the world thanks to prenatal testings, WITH TOTAL DISREGARD to the fact that, hello?, they (and their relatives who absolutely adore them, by the way)are here, they can hear you and more and more of them actually UNDERSTAND or get the gist of what you are saying!!! Could you at least pretend that you feel for them😳?!!!!

Wouldn’t that feel like the epitome of hypocrisy to you? A blatant betrayal, a tad confusing when you’ve just been told for the past 20 years how wonderful you are???? How the heck are they supposed to reconcile the fact that you are building them up to the best they can be, only to understand later that actually you believe the world would be a lot better off without them?

You tell us, because, yes, we are confused. Wouldn’t you be?
You tell us. What is it about them that really bothers you to the point that it would be better if they weren’t born? Are they too loving? Too sweet? Not clever enough? Too slow? Take too long to deliver? Prone to drugs? Prone to alcoholism? Prone to delinquency? Prone to crime? 
You tell us, because as my daughter is busy walking through the gates of adulthood and getting a bit more savvy, she is starting to feel like a survivor amongst those who wish the segment of population she belongs to extinct but welcome her with open arms…
You tell us. How is she supposed to keep being proud of who she is and hold her head high?
You tell HER because when she asks me “BUT WHY?”, the only thing I can come up with that could make sense, is partly true, shields her sense of worth and just about stops me from breaking down in front of her, is: “It’s because people don’t know much about Down syndrome”. 
And that’s when I suddenly find myself longing for the questions she used to innocently ask at different stages of her childhood: “What is DS?”, “Why do I have DS?”, “Do I still have DS?”: and I now feel helpless with “I don’t want to have DS anymore…”.


And you tell us where to find that checklist of worthiness….


Do you understand now why it is so important to raise awareness, all the time, to show you guys, that people like her are so much more that just an extra chromosome, that people with any disability are so much more than that disability…

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