This is pinned as a page and I will update it as and when we have any fresh information.
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) - link here .
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) -
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.
We have now had an initial appointment at Great Ormond Street. They have taken DNA from N and from both B and me for further testing at Guys, where there is as yet unpublished research taking place in to 'sister syndromes of Vici Syndrome'. Vici Syndrome itself has been ruled out, but there appear to be a number of genetic blips which present in a similar fashion. The plan is to go back in eight months or so for an update; and they will let us know if they find anything in the meantime. I cannot find any evidence of children older than age ten with Vici Syndrome. I would be grateful for any references or Update notifications via twitterconnections anyone can provide. Other than that, we have reached a dead end and are just dealing with symptoms.
Nenna has put on weight over the summer because we are now tube-feeding by button four times a day. However this has the downside that functionally she is weaker as her muscles can't cope with her increased size.
We are waiting for an appointment for 'serial casting', which involves plastering her feet and lower legs in to position for a few days at a time, in order to get a good stretch on her tendons and tight muscles. This should help with walking. Because of the mess-up with orthotics over the summer, she was off her feet for three months and this has obviously had an effect on her mobility. She now has ankle boots and calipers, which mean she is back on her walker. We also have a new, big-girl powered wheelchair, which can be hand-braked turned, weighs in at sixty-five kilos and has revolutionised her getting around, particularly at school.
We have just taken delivery of a 'sleep system' that is a flexible frame covered by memory foam that should help support her at night so that she moves around less. Currently she is waking between three and six times a night because she travels in her sleep and gets lodged, then needs resetting like a type-writer barrel. We are hoping that the system will help reduce the number of times she needs repositioning.
Nenna has quite a good understanding of language, but she is unable to readily form words. A lot of her communication is through STC, which is a Makaton-derived sign-system. Leo likes the fact that 'we are a signing family and speak two languages, English and Sign'.