Hello everyone,

 

Did all of you go through genetic testing?  And did you all have positive genetic mutation results?  I have read that only 50% of those with NOMID/CINCA have known genetic mutations.  I am concerned that our doctor here will base his diagnosis solely on the genetic work that we are waiting on from NIH.

 

Our son had a rash develop at 2 weeks of age. It started out with one spot on his forehead.  We called him a unicorn:)  Then eventually covered his whole body.  Now it just comes and goes, but there is always evidence of it.  He also has had swelling of his feet and legs, an ear, both eyelids, and now his hands are always swollen and have red spots on them.  His lab work shows elevated CRP, and he has been anemic off and on, no sign of infection or immune response.  He is running fevers everyday for the last 2 weeks and has done this (but not this long) throughout.  He also had two skin biopsies that show only inflammatory cells with no sign of infection (it compares to the one report on found online of Dr. Alanna Bree).

He has had one seizure like episode and one bout of inconsolable crying that looked like a bad headache.  He had two rounds of steroids that reduced the symptoms but did not completely get rid of them.

 

They have not come up with any other diagnosis, but our immunologist does say it looks like an auto inflammatory disease. 

Does his history look that way to you?

 

Thanks,

Kathe

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