I was diagnosed with Li-Fraumeni syndrome in my late twenties and the diagnosis shocked me. First of all, I’d never heard of it and secondly, although I knew there had been a lot of family members affected by cancer I never thought I’d be one of them. I met with my genetics counselor before finding out my results and I was very confident I would test negative and I still remember feeling very overwhelmed and in disbelief when she told me I had LFS.
During my first few initial screening appointments little things were being found. A lump in my breast that ended up being a fibroadenoma, a lump on my thyroid that was biopsied and benign. The build up to the appointments, the anxiety during and after, worrying they’ll find something and that this time it’ll be cancer, it’s a lot to carry sometimes. The doctors and surgeons that strongly recommended having preventative surgeries like a double mastectomy and/or hysterectomy. I remember leaving appointments in tears, again feeling so overwhelmed and unsure what to do and what was best for my health in that moment and later in time.
Eventually I found myself feeling more secure in my diagnosis. Changing my thoughts and mindset. Feeling grateful for the screening and that if something was found it would be found early enough to give me a fighting chance. And working on not worrying until there was something to worry about. I got pretty good at not thinking about my LFS until it was time to go in for screening and feeling confident in my results that the things we were monitoring weren’t problematic. But all that changed when I became pregnant with my first daughter. Suddenly all the concerns and worry I had came flooding back. It was a completely different, deeper concern when it could affect my child. It’s a 50/50 chance of having LFS but in my family we’ve seen more diagnoses than not. She tested negative and what a relief! My second daughter tested positive though and it was really hard not to blame myself and get out of the headspace that she wouldn’t have this if it wasn’t for me. It’s much harder for me watching my child go through all the same poking and prodding that I do. Again I find myself trying to focus on being grateful we get the opportunity for extensive screening and not worrying until there’s something to worry about.
