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Tuesday, 7 May 2013

he has a what?

Folks have been asking, so I'm going to try and explain Smiler ~ very much easier said than done!  Everyone take a deep breath ...

Smiler has a unique genetic condition ~ an unbalanced translocation of chromosomes 13 and 15.  The vast majority of us have two copies of each chromosome, but Smiler has one 'normal' (don't get me started) chromosome 13 and 15, but instead of one more of each he has about half of 13, and attached to it, a chunk of his second 15.

With me so far?  Great ~ onto some mythbusting . . .
It is a genetic condition.  Every cell in Smiler's body carries this fault, and has done since the moment of conception ~ it's not something he 'caught', and it's not something others can catch (we have been asked...) by being around him, or breathing near him, or, well, you know, all those other ways people catch things ~ he could lick your face repeatedly (which he would happily do, given the chance!) and your DNA would be safe.



It was a complete fluke ~ just 'one of those things'.  You know how they tell you the odds of things happening?  Imagine you're told there's a one in a million chance of your brand new car breaking down today~ it's pretty much definitely okay, right?  And if it's a one in ten million chance?  One in a billion? One in seven billion?  Well, that's Smiler ~ he's that one in seven billion.  Let me tell you, when you're the one, you don't care how many times other people's cars don't break down.


Does that make any sense?

The non~scientific way that I understand (and explain it to others) is that Smiler, and all babies, are kind of like complex Lego models, with in depth instructions.  With Smiler, a page or two went missing from the instructions, so some systems got kind of fudged, but look broadly the same from the outside.

So Smiler really is a one off.  His genetic make up is unique, which isn't nearly as rare as it sounds ~ he's the only person recorded to have these exact pieces missing, but plenty of others have different disorders ~ check out Unique ~ they probably explain much better than I do anyway!  It was only when I understood how much can (and does) go wrong that I realised how amazing it is that any of us are 'normal'.


We've heard a fair few negative comments from medical professionals over the years :

He is a statistical impossibility. . .
          . . . well, there's always one (see above!)

He should never have been able to be carried to term. . .
          . . . but he managed an extra three weeks.

He should never have survived birth. . .
          . . . but he breathed by himself almost immediately.

He is an anomaly. . .
          . . . but what is normal?

He is a genetic mutant. . .
          . . . just like the x~men then.

He is a freak of nature. . .
. . .
He is my son.

2 comments:

  1. Wow you've met some fairly insensitive professionals :( But I'm glad I've found you, and odd that I called my child with no diagnosis Smiley :)

    ReplyDelete
    Replies
    1. There've been some fantastic ones too! Thank you for reading, and for taking the time to comment. I hope that your Smiley is doing well!
      Take care
      Lucas

      Delete

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