DNA to verify a diagnosis
7/28/01 6:36 PM
My son is 5 1/2 weeks and diagnosed with SW CAH.  It was detected on the newborn screening.  His first screening was mildly abnormal and his second screening was highly suspicious. They then had the pediatrician order a 17 serum test I think they called it. The ped. also referred us to an endocrinologist. In the meantime he had done some electrolyte labs. My sons sodium was always at a 32, 33,34 and his potassium was 5.7 and stayed around there. The endo did what she called a stimulation test. The 17 serum test came back at 5,000 and the normal was 30! I'm not sure what units they are. The endo called us yesterday and said that she had the test results back from the stimulation tests and that it was at a 24,000 and normal would be around 500. Again, I'm not sure what units it's measured in. She said that a mild case would be around 10,000.  I asked if we could do the test again and she said that now he is on the meds, the levels would not be correct and she doesn't want to take him off the medication. I have a hard time accepting it on just one or two test results. I wonder if DNA testing could give me a 100% guarantee before I give my son meds for life!!!! I hate even taking tylenol so giving him medicine, which I do give him, makes me sad. Has anyone ever been diagnosed and then found out by some means that they didn't have it? Please let me know. My email is billprop@aol.com. Thanks for your help
Sandra
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