Friday, 22 March 2013

Down syndrome vs Trisomy 21...let's take it outside!

(Warning: this post may be controversial. If you have a personal interest in Down syndrome and are emotional about the subject, this may upset you. Depends on your point of view. If it does, I apologise, but better to know now. I'll be sticking with this view all through my future posts unless something I observe changes my viewpoint, but I doubt that will happen. I am firmly of the opinion that a person has a body and is not defined by it. Therefore I firmly believe that a physical condition can be changed and not necessarily affect a person's innate personality. I do not believe that a person's personality etc is determined by genes.)

So if Down syndrome and Trisomy 21 had a fight, who would win.....

Seems like a ridiculous question, doesn't it? Yet I wonder.

Most people have never heard of Trisomy 21 and if they heard that a baby was born with this condition they'd most likely say 'oh', kind of blankly and wait to be filled in.

Most people have heard of Down syndrome and if they heard that a baby was born with this condition they'd possibly say 'OH', in a very unsure kind of way and get very uncomfortable all of a sudden, not knowing what to say.

Yet they're meant to be the same thing.

Thing is, people think they know what Down syndrome is. They don't wait for you to tell them. If what you say doesn't match up with what they think they know, they'll disbelieve you or think you're delusional - or both.

Since Jacinta was born I've met a new person every week, sometimes several, who are involved somehow with her care or even our care. Each time we go over her diagnosis, her prognosis, her progress, our family, our situation, our needs etc.  Each time, she is referred to as having Trisomy 21 and rarely does the term Down syndrome come into it.

In fact, you can almost tell the attitude of the medical person you're talking to by whether or not they use the term Down syndrome. This is not a blanket description, mind you, but there does tend to be two kinds of medicos. There are those who look at the baby in front of them as a baby with a heart condition, two fontanelles, breathing difficulty related to the heart defect, slow weight gain etc. and Trisomy 21 or there are those who look at the baby in front of them as a baby with Down syndrome and associated health conditions.

Now this wouldn't be a problem except for one thing. Down syndrome has a different definition for every person with the condition. There are many typical characteristics in people with Down syndrome.  Not every person has the same combination of things. As the paediatrician at the Women's said when explaining about the extra fontanelle, this (like all the other characteristics) is something that anyone can have, not just babies with Down syndrome. It's just more common in babies with Down syndrome. People with normal genetic makeup have serious heart conditions, leukaemia, eyes with extra folds and an upwards slant, slack muscle tone, low intelligence, small and broad hands, a big space between the first two toes, extra skin at the back of the neck, low birthweight, small size....the list goes on.

So if every characteristic of Down syndrome can be found in people without Trisomy 21, what is the one thing that defines people as having it? It's purely the genetic characteristic of having the triplet of chromosomes at number 21, rather than a pair.  Hence the name tri-somy 21. (It is said in a couple of places that the one thing all Down syndrome children (just stating here for the record, being precious about how we phrase the name is, in my book, ridiculous) have in common is some degree of mental retardation. Thing with that is, I'm seeing children without any degree of mental retardation so that doesn't bear out in fact either. )

Thus, it seems to me that the best way to start afresh and drop the preconceived misconceptions about the condition my daughter was born with is to drop the tag as well.

Thursday was International Down Syndrome Awareness Day. I'm so out of the loop that I didn't know until I saw it going on around me. I guess I'm not hooked into the scene yet! A few weeks ago I read a blog post from a lady whom I follow and I was delighted to read that she didn't want to post about her son  and celebrating his achievements to raise Down syndrome awareness purely because she didn't want him to be accepted as a child with Down syndrome, but on the same terms as everyone else. Just as himself.

I am of the same ilk. Most times when I look at Jacinta, I forget that she has a chromosomal abnormality. It barely shows in her face - which is a far cry from when she was born. (see above) It doesn't show at all in terms of her size, nor her awareness (which blows the intelligence thing out of the water thus far in her case too) or in her ability to communicate.  When she is assessed by medical staff, they are gobsmacked at how she is doing. I forget that she's going to need intervention. She barely shows any need so far whatsoever. (She is slightly behind in terms of muscle strength, but she's working hard on it!)

To me, and I mean no disrespect at all to anyone else out there who has Down syndrome, associating Jacinta with Down syndrome is applying a label which doesn't fit. Thing is though, she does have Trisomy 21 and I'm pretty sure nothing can change that (though they're working with stem cells I believe....).

If we're doing several therapies which can sort out the facial abnormalities, poor muscle tone, co-ordination, awareness, speech etc and produce a child who is fully capable of living and producing whatever effect in life that they want to, then as far as I'm concerned, that is a cure for Down syndrome. Not Trisomy 21, but Down syndrome.

In honour of Down Syndrome Awareness Day, which has just passed, I would like to raise awareness. Awareness of what can be achieved when you have Trisomy 21. Awareness that giving birth to a child with Trisomy 21 can be a drama but need not be a trial and you can be every bit in love with them and even more proud of them than you could be if they had no trials of their own to contend with. Awareness that Down syndrome is a set of characteristics that may or may not be present in any individual. Awareness that the only factor of Down syndrome which cannot be changed is the Trisomy 21. Awareness that Trisomy 21 and Down syndrome are not, in fact, the same thing. Not in my experience anyway.

I have read about people who are out-performing people's expectations of what Down syndrome people can do or be and despite this are being passed over for jobs or discriminated against because of the assumptions people make. Never mind that they have a qualification, the same as everyone else in that situation. This is where the trouble lies, I reckon. This is what needs to change before Jacinta is old enough to have that happen.

Also, there is a very important reason to raise awareness. There are 1000s of babies born worldwide every year with Trisomy 21. How many of their parents realise that a lot of the Down syndrome characteristics can be overcome?

Imagine if they all did. The big, bad, scary unknown which prompts so many potential parents to abort their foetuses because they might have Down syndrome would be no more. I would hope that this would give many more babies the chance to show what they can do and thereby increase the public's awareness of the difference between the label and the actual condition.

This is a condition that attracts little research. I have heard that the viewpoint in research is that there's no point. I googled madly to find the expert on Down syndrome. I don't know who he or she is, but they're certainly hard to find. Traditionally there's a 'can't do anything, let's get rid of it' attitude to Trisomy 21. Originally manifested in shutting those with it away. More recently in killing them before they make it out alive. I suspect that those who know the most are the parents. The ones who have researched themselves til the cows come home and then til they go out again the next day. The ones who have managed to make a difference and raise children into vibrant, productive, self-aware adults, running their own businesses or working in jobs of their own choosing.

The whole purpose of this blog is to help new parents to find solutions by showing them our progress and to demystify the area of Trisomy 21.  Maybe even help adults with Down syndrome who have been told to settle for less to improve their own situation. Can it be done? We won't find out by not talking about it and not trying.

In the words of one of her first doctors, 'I know Jacinta, Jacinta's cool!'.

That's how I want the world to know her too. She is cool, and not in a 'special' way. She's beautiful and  tough and very cool. She'll give her sisters or her at times inept mother a piece of her mind when necessary. She is very on the ball.

I have the utmost respect for my daughter and what she can take in her stride.  We are all special. She is awesome.

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