Thread: Fanconi Anemia
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Old Sun Dec 18, 2016, 01:08 AM
JeriM JeriM is offline
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Join Date: Feb 2013
Location: Bay Area, CA
Posts: 14
They found 2 gene mutations for mosaic FANC-A, nothing else. We are having another chromosome test performed at a different lab, and we just did a skin biopsy to have a different source of cells. They are also asking to have one of my sisters be checked because she had breast cancer, and sometimes FA goes hand in hand with the BRCA mutation (which I don't have). What to do with the info? Nothing, so far. I have both NIH and UCSF doctors putting their heads together, and they don't want me to start any treatment yet (although Danazol may be on the horizon). My counts are slowly and inexorably going down. I keep pushing and pushing for answers, and have met with another geneticist, but there doesn't seem to BE an answer at this time. I do know they are continually improving the testing and discovering new information - it is all very cutting-edge. Hopefully, they will also come up with a cure....

Last edited by JeriM : Sun Dec 18, 2016 at 02:27 PM.
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