3 ms·
I have an unusual gene mutation that is basically unknown. There are other mutations in that gene that cause fatal birth defects but not the one I have. It was
by TomMasz 4y ago
I have an unusual gene mutation that is basically unknown. There are other mutations in that gene that cause fatal birth defects but not the one I have. It was found as part of a search for the cause of a (non-fatal) condition I've developed as I've gotten older. Luckily, while I'd like to know what's causing the condition and what, if any, implications this mutation has it's mostly an intellectual curiosity, not something around life and death. I wish this woman the best.