Showing posts with label genetic tests. Show all posts
Showing posts with label genetic tests. Show all posts

Monday, 3 August 2009

It's the holidays...


Yes, indeed. I do love the hols. Ironically we all get up much earlier than we would do in term time. I asked Jordan what he had planned and he replied 'I'm going to watch videos and then relax' Talk about multi-tasking. Working from home, this frenzied activity is not at all stressful to manage and quite often, I find myself next to Jordan as I write. At the minute he is watching his new obsession Mr Bean and developing a very fine impersonation of his catchphrases, if I say so myself.

In other news, the search for chromosomal definition continues. It turns out that there is extra material on chromosome 9 but we are no nearer any kind of definitive diagnosis for its significance for Jordan. Oh well.

Happy holidays all.

Tuesday, 16 June 2009

He's back!


Yes, the boy has returned. He had a great time. He reported that girls in bikinis were not much in evidence. Possibly because the clubbers are up all night and asleep all day. He talks a lot about having a girlfriend but as I said to his neurotypical sister, he may have to leave the house once in a while to find one...

Still waiting on results of blood tests for possible genetic conditions. In one sense, it doesn't make a whole heap of difference. Nothing alters in Jordan's educational provision or his daily life. I suppose it's one more piece of the jigsaw.

Tuesday, 3 March 2009

Chromosome 9


Well, the plot, as they say, thickens!

Ongoing genetic testing has revealed that Jordan has extra material on Chromosome 9.
Testing continues and we should know more in a couple of months. Looking it up on the web revealed this could be the cause of Jordan's developmental delay! Blimey! Not the meningitis then.

'Other changes in the structure or number of copies of chromosome 9 can have a variety of effects. Intellectual disability, delayed development, distinctive facial features, and an unusual head shape are common features. Changes to chromosome 9 include an extra piece of the chromosome in each cell (partial trisomy), a missing segment of the chromosome in each cell (partial monosomy), and a circular structure called a ring chromosome 9. A ring chromosome occurs when both ends of a broken chromosome are reunited. Rearrangements (translocations) of genetic material between chromosome 9 and other chromosomes can also lead to extra or missing chromosome segments.'