re: re: re: Natalie
Feb. 22nd, 2006   12:52pm

Natalie,

         Hey, I actually have 4 mutations! My daughters are 21 hydrox. By blot analysis? I carry that one w/ a conversion/deletion and by direct mutation analysis I carry intron2 A/C656G splice, P30L and exon 3 deletion. My husband carries nothing by blot and 21 hydrox R356W mutation by direct mutation analysis, so ours are different!? One daughter that has been tested carries the same blot as me and ALL 4 mutations. Our non affected daughter carries everything the same as I. The other has not been tested. Do not ask me what the difference is between blot and direct analysis, no idea!! But obviously (or it seems to me) your daughter seems to just be a carrier of several mutations, neither my husband or I are affected.

      Not my business but have you or are you going to take any action over the 8 years of misdiagnosis? I would think I would want someone held accountable. I was just wondering if you feel like sharing.

       Hope you get the answers your looking for.

Peace~ Tina

Tina G
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