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3231626 tn?1346389698
Undiagnosed Lysosomal Storage Disease and Whole Exome Sequencing
Hi everyone,
I'm writing from New York. I'm 21 years old and a junior in college. In April, we noticed my neutrophil count plummeting for no reason. Through extensive testing, we have found the following: splenomegaly, early stage cirrhosis, seizures, chronic fatigue, thrombocytopenia, leukopenia, neutropenia, non-herpatic mouth ulcers, unidentified nodules in spleen and lungs, idiopathic ataxia, joint pain and  psychiatric symptoms. Negative for HIV, herpes, all forms of chronic and infectious hepatitis, autoimmune diseases, Wilson's Disease, infectious diseases and I'm a carrier of Gaucher Disease. I have seen an internist, an infectious disease doctor, hematologist, neurologist and a hepatologist/gastroenterologist. The hepatologist/gastroenterologist has ordered a whole exome sequencing, as he seems to be quite sure it is a lysosomal storage disease. Are there any lysosomal storage diseases (besides Gaucher's) that would fit the symptoms I have described? As far as I have been able to tell, whole exome sequencing is only ordered under suspect of undiagnosed genetic disease. I'm really confused and kind of in pain on a daily basis. Any ideas?
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