Mother: He's going to be two in a couple of weeks, and he's got an older sister and she's five and a half.

Father: A typical little boy we think. Completely different to his sister.

Mother: A typical toddler boy. He hammers things and we all sort of...

Father: Yes you give him a hammer he'll hammer, you give him a drill he'll drill.

Mother: He loves football.

Father: Trucks, planes, lorries, anything like that is excitable.

Mother: He's a sweet and affectionate little boy I think, he's a little bit more... a little bit quieter than his sister.

Father: He likes to hug people. Generally he's... the consultant called him 'a chirpy little boy' and that was six months ago and that's how I view him anyhow.

Mother: He goes to a local toddler group and sort of you compare with other children his own age and he's I would say pretty much the same as any ordinary little child his age.

Father: No, no, we don't... well I don't see him as a boy with Klinefelter's syndrome. I see him as an XXY male. There's lots of, loads of websites and things like that that we went on to see about the problem and there's one, an American guy, who said that they're not Klinefelter's syndrome  people, they’re XXY males and they may have a load of traits,  learning difficulties, late speech, muscle tone, height, breast tissue, stuff like that and he saw them as if they develop all those traits they can be classed as a Klinefelter's syndrome boy or man I suppose.  But some of them might not get any of those.  One of the only things they are guaranteed to be is infertile, and they're not even guaranteed even that.  Very, very probably they're going to be infertile.  So at the moment you look at him and he acts like a little boy, and that's it.  He's no different.  You'll probably meet him when he wakes up and he'll come down, he'll be shy, he'll go and play with his Black and Decker Workmate and that'll be it, there's no difference.  Absolutely none.

Mother: Well it was a kind of convoluted way round. We decided that we didn't want to have any of the blood tests because we did have them with our daughter and she came out as potentially Downs which she isn't so we sort of we thought right, we won't do that, so we had a scan and then we had a low lying placenta so we had to go back for a late scan and at that stage they pointed out there was some echogenic bowel activity which they said could be appointed towards either cystic fibrosis or Downs, and then we had genetic tests when he was born, and so we were waiting, we were expecting either cystic fibrosis or Downs.

Father: Well, we were expecting cystic fibrosis because when he was born the first thing I looked for was his hand and apparently Downs babies don't have the crease on their hand or something and that's all we had to go with.

Mother: We asked the midwife as well and she was pretty sure he wasn't Downs so we thought, okay, maybe it's cystic fibrosis then, and we came back with this and we'd never heard of it before and we just thought, we were just relieved that it wasn't cystic fibrosis and that was our real response wasn't it.

Father: Yes, so we didn't know what, didn't know anything about it. We thought he's got possible Downs, possible cystic fibrosis until he was born and they did they gave him a formal blood test.

Mother: And then we had to wait a few weeks for the results. In between he had scans and all sorts of things to check his bowel was working, but that's all fine, and then we got this so it's completely a bolt out of the blue but when you look at it compared to other things it could have been a lot worse.