Wednesday, 23 October 2013

internet disease misery bingo. a game the whole family can play.

I need somewhere to pin these after spending a morning playing Internet Disease Misery Bingo from the key phrases the consultant wrote down for us yesterday.

Centronuclear Myopathy (confirmed by biopsy - the nucleuii of her muscles are in the centre rather than on the edge, so they don't sproing as much as they should, as if she is running an underpowered engine) - http://www.muscular-dystrophy.org/how_we_help_you/publications/1978_myotubular_centronuclear_myopathy . There is also another muscle problem with the rods in muscle fibres being a different length to what is expected. You normally get one of these things going on, not both.

Mitochondrial Complex IV Deficiency (slight, but confirmed by biopsy) - http://rarediseases.info.nih.gov/gard/48/mitochondrial-complex-iv-deficiency/more-about-this-disease

Vici Syndrome (possible from her displayed symptoms) - http://quinnandkristi.blogspot.co.uk/2013/02/were-published.html

She also has a small Cerebellular Folia, examined by MRI last year, which is what is causing the Ataxia. I can't find anything helpful about that that I understand.

These four things have pointed them to various gene groups. The genes are checked one by one and as each one comes up clear they move on to the next. That is why it can take up to twelve months. I don't know whether there is a standard order in which they are tested, or whether they start at the best guess and work out from that.

In other news:

1. Nenna is sitting on the sofa with her head under a blanket, watching Charlie and Lola on her iPad and occasionally sticking her head out and shouting "BOO!"

and

2. Arvo has inadvertently taught her to say 'shitbags!'. Luckily her speech is so poor that it just comes out as 'BAGS!'.

For today, that is all.

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