"I found a lump by accident before Christmas. When the biopsy came back as positive, the surgeon wanted me to get genetic testing because I am a very fit person with a history of rare health issues: I had pregnancy-associated osteoporosis and bone marrow edema syndrome with my second pregnancy and was in terrible pain. It was so rare at the time (2001) that I found very little info online. Then at 41 I had a heart attack due to coronary vasospasms that are idiopathic. The spasms started when I was 30 but doctors always assumed it was esophagus spasm, so it wasn't diagnosed until a spasm was strong enough to trigger a heart attack.
"My genetic testing came back with ATM gene mutation of unknown significance, so once again I feel like a medical outlier with few people to talk to. I had a lumpectomy and will meet with geneticist to try and suss this out and see if my daughters need to be tested. Cancer on my mom's side with her father and brother. Her brother had Hodgkins at 24 and died at 48 of soft cell sarcoma which the doctors thought was due to the radiation he received the first time around. My mother was diagnosed with Parkinson's at 55 and is now in the late stages of it at 75 and her uncle had it as well. So, I think the whole longevity/clean living thing is a crapshoot."
-- ReadyAbout, tested positive for an ATM genetic mutation of unknown significance