May 13, 2010
Diagnosis: phosphate diabetes
Quite rare genetic disease characterized by phosphorus insufficiency in organism resulting in bones non-maturation. Bones of a child of six are retarded substantially that causes deformity of lower limbs and back. There is a significant stunt, alterations in legs and spine joints. The productive life and development of child depends upon absorption of phosphorus by organism.
Family could not take a decision concerning clinic for a long time but finally they decided in favor of Hadassah clinic in Jerusalem (Israel) and they were right in surmises.
That was the very facility where she passed first stage of diagnostics and examination. Normocalcemia, hypophosphatemia, hypocalciuria, retarded development of bone age, acidosis, rachitic alterations in bones, significant stunt were established in Kseniia organism. Today there are not any sufficient data on genetics so blood was taken for genetically inherited gene-mutations of this disease that will clarify the crucial aspect – 100% cure will be possible in the case of gene damage absence. It means that Kseniia will have chance for absolute recovery via allocated therapy. Currently Kseniia undergoes maintenance medication therapy until the results of genetic testing will be received. Then the intermediate re-examination is planned, confirmation or denial of presumptive diagnosis, in the case of gene damage revealing – supplementary medication lifelong therapy.
Amount for collection: $ 7,862