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  #1  
Old Tue Sep 15, 2015, 03:09 PM
jackie8012 jackie8012 is offline
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Patchy bone marrow cellularity and tongue problems

Hello my son is 14. He has had sustained bicytopenia affecting his neutrphils and platelets. Plus a white, pitted tongue that had occasional sores on it (since he was five). Because of this he had a bone marrow biopsy. The biopsy showed an unusual picture with reduction in cellularity down to 10% in some areas but normal in others. The aspirate with hypercellular with reduced myeloid and megakeyocytic activity. He has also had a recent ultrasound that showed a 'grainy' liver (he's not overweight) but his bloods have shown that his liver is functioning normally. He also has autism. At present, they do not know what has caused this but have ruled out leukaemia. Any input would be appreciated. thank you
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Old Tue Sep 15, 2015, 10:47 PM
Hopeful Hopeful is offline
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Hello Jackie8012,

Has your son been tested for dyskeratosis congenita? It is a rare genetic form of bone marrow failure that has many of the symptoms that you have described. Usually there is an abnormality of the nails as well.

It would be important to rule this out before making any treatment decisions. Since it is such a rare disease, it is important to be seen by an expert in bone marrow failure diseases/aplastic anemia. Where are you being seen? I know we have a few UK people here if you need recommendations.

I hope you find some answers.
__________________
50 yo female, dx 9/08, AA/hypo-MDS, subclinical PNH, ATG/CsA 12/08, partial response. Tried slow cyclosporine taper over 4+ years. Platelets fell, so back on cyclosporine. Trisomy 6 clone in 5% of cells.
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Old Wed Sep 16, 2015, 06:37 PM
jackie8012 jackie8012 is offline
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hello, thank you so much for replying to my post. The hospital (in Cambridge, Uk) has just sent a sample off to Oxford in the Uk as apparently they can test for it there. I too have considered dyskeratosis congenita because I looked at thousands of pictures of tongues and the ones that looked most like my son's had that condition. He hasn't however got any problems with his nails. He has another bone marrow biopsy on Monday to see if the cells are improving or getting worse. Will keep you posted. Thanks again for the input - much appreciated.
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Old Wed Apr 26, 2017, 10:19 AM
jackie8012 jackie8012 is offline
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now being tested for dyskeratosis congenita

its been a while but my son's bloods are now being sent off to Vancouver to test the telomere length to see if he has dyskeratosis congenita. So worried.
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  #5  
Old Wed May 3, 2017, 10:56 AM
Jacqui Jacqui is offline
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Hi Jackie

I have just sent you a private message regarding bloods to Vancouver

Regards
Jacqui
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