Discussions By Condition: I cannot get a diagnosis.


Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: Mandyednlily
  • August 17, 2009
  • 03:13 PM

My three year old daughter is currently undergoing what seems like a never ending round of tests due to her severely bowed legs and arms, and rib deformities. Her most recent test results show that her phosphate levels are normal, and she is negative for coeliac disease. She has also had genetic karyotype tests and SHOX gene tests, also normal. Her vitamin d level is very low, and she has been given colicalciferol twice now for that. In all other respects she is a normal lttle girl, who loves the beach, and playing in the park. It hurts her to walk too far, and she can't run any more, which as a mother is heartbreaking to watch. I just wonder if anyone has any ideas as to what will happen next, and what else this could be caused by, as it isn't now the genetic rickets or XLH everyone assumed it would turn out to be?

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