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Enlarged spleen - running out of possible diagnoses - any experience?

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pecanpie · 22/07/2010 09:21

DH noticed DD had a 'lupm' on the left side of her abdomen. We were referred to paeds a&e to get her checked out and almost a week later they have ruled out

  • leukemia etc
  • glandular fever
  • other viral infections despite the fact she had a virus in her blood

They are now testing for a couple of exceptionally rare genetic diseases and think she has something called Gaucher's disease which typically causes the spleen to enlarge. Our hospital is a centre of excellence for such diseases and it's not that we don't believe them (possibly we're in denial) but DH reckons he/we would have noticed the spleen problem earlier if it had happened over her entire lifetime. If it's not this (which isn't great news anyway), it's back to square 1 and yet another round of blood tests for poor DD. I know it's a long shot, but does anyone have a similar experience or any medical knowledge which could help?

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