The story is pretty complicated and it's hard to explain how this all ended in my breast cancer awareness frenzy, so some background is definitely necessary.
How it all started
The story starts back in 2011 at one of my dad's dermatology appointments at Cedars- Sinai (which I never go to by the way. I really don't even know how I ended up at this one). You may or may not know that both my parents have fought cancer and are proud survivors (more details to come later), but this particular appointment was for screening that became necessary after my dad's multiple cases of skin cancer (among other kinds). He was seeing a new dermatologist that day, so that meant re-telling my dad's personal cancer history that we have all come to know by heart at this point and reciting the family history of cancer that's longer than the Great Wall of China
ok, maybe it's not that long
After a few moments of listening to our spiel, the resident (maybe intern. Either way he looked fresh out of med school) asks if my dad had ever seen a geneticist to get tested for something called Li-Fraumeni syndrome. He described that this condition was characterized by the deletion of the p53 gene, a tumor suppressing gene that often resulted in multiple repeated cases of cancer as well as a long family history of cancer. We had never heard of this in our lives (neither had the attending dermatologist), so after a little research my dad was sent off to the lab to get tested.
The Wait... and the Answers
The wait was long and hard, but the results were soon upon us and... he had tested positive. After some more research, we learned that basically what this diagnosis meant was that not having this tumor-suppressing gene had made my dad INCREDIBLY susceptible to developing different kinds of early-onset soft-tissue cancers. It explained why he had developed one of the most rare and lethal cancers in his mid 30's and why subsequent CT-Scans for screening had caused him to develop multiple cases of skin cancer. After the shock wore off, it was highly recommended that my brother and I both get tested.
The wait: Numéro 2
After much insisting on my mom's part,UCLA agreed to test us and the wait was on. Those were probably some of the longest two weeks of my life. Knowing that my dad had the mutation meant that my brother and I both had a 50/50 shot of having the mutation, which only made the wait longer. My mom and I were at UCLA a few weeks later for one of my regular cardiology appointments, and with just one look at another one of my doctors who happened to be walking down the hallway my mom knew... the results were in. We approached her, and of course she had our results in her hand (pretty impeccable timing if you ask me). She said there was good news and bad news. The good news was that David had tested negative (yup, you can breathe a sigh of relief for the now 10-year-old who practically lives in the sun), but I had tested positive. After letting the shock sink in of finding out this news in the hallway (as opposed to the traditional genetic counseling session where news like this is usually given), we were off to the genetic counselors.... again.
Aaaahhh... UCLA 200 Medical Plaza, my home away from home for the last 19 years. I've recently come to realize that I've been treated on every floor of this building now #sickkidproblems
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