Isabella's Big Dreams

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Latest genetic news

Posted by isabellasbigdreams on June 13, 2013 at 7:25 PM


News from our latest app with the geneticist...

 He managed to get hold of Izzy's MRI results which showed a hypoplastic pituitary gland, her pituitary gland is very small at the front (which explains her growth hormone deficiency) and coincides with her RSS.

He said that she will need genetic tests done when she is a teenager just to update them (and hopefully by then they will have more knowledge on RSS)

She will also need to see them before planning children although a long way off he doesn't think she will have an RSS child (not hereditary) the UPD7 that she has is very rare and he is looking into whether her ghd is linked to her toileting issues so should be interesting to find out...

 

His estimate for her final height is 4"6 he said we are probably too optimistic to look for a height of 4"9 which is slightly disappointing but with the gh hope to increase 4"6 by an inch or so, Only time will tell...

 

Also had a phone call from a disability swimming instructor and am pleased to say she had 1 slot left, and Izzy will be starting 1:1 swimming lessons on Friday evenings at £15 for 30 mins not cheap but hopefully very beneficial to Izzy! :)

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