Thursday, December 20, 2007

Genetics Appt

We took her to her appointment at the Genetics Clinic that was made months ago. The doctors looked her over and still said that they really had no ideas as to what was causing Reagan's developmental delay & seizures. They wanted to run a few more tests, another test for Rett's syndrome as well as a cholesterol & polyol screen. We took her to the lab to get her blood drawn and they blew out the veins in each arm, so we had to come back the following week so they could try again! If they can't take blood from a baby at a Children's Hospital, where can they? It was very frustrating, not to mention traumatizing for all involved! Everything came back normal except she had 2 elevated polyols in her urine. No one is really sure of the significance of this, but the genetics doctor would like to get blood, CSF, and urine to send to a group in The Netherlands to analyze. We're postponing this until she's done with the ACTH treatment.




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