If I didn’t already know I was special, I for sure know that now. After meeting with the Genetic Counselor the other day I found out that I do not have any mutations in the BRCA1 or BRCA2 genes. For those that don’t know, mutations in these two genes increase a woman’s risk of breast cancer. It came as a bit of a surprise, only because my oncologist was SO sure that would be the case – being 27 with no history of breast cancer in the family. Alas, I am a unicorn. I have no explanation.
They did find some things of interest – I have a “variant” in a gene called TP53, which is currently being studied for its role/link in young cancer and bone cancer (I have mets to the bone for those that do not know). Since the research is still new, this doesn’t necessarily mean anything right now, but potentially could down the line. The cool thing about being a purple unicorn is that my DNA is getting some special attention – being studied and further tested by the HCP (Hereditary Cancer Program) looking at MORE of my genes to seek out any other mutations or anomalies (yay more blood work/saliva samples)…though I would take normal DNA over being the subject of study any day 😉
Next up on the docket for Wednesday was a blood test and biopsy to get me started with the POG study. If you don’t know about this study I suggest you read up on it, it’s pretty interesting stuff.
Since I was slotted in due to a last minute cancellation, no one had any requisitions for me for bloodwork or the biopsy…typical haha. So up and down the cancer agency I went, having people track down the correct people to get the show on the road. Blood work: Check. Next up, biopsy. My diagnostic biopsy experience was awful, I was not comfortable, I was nervous, they didn’t freeze me properly and took a total of 10 samples including fine needle aspiration of the lymph node.
This time I was slightly more prepared, I popped some Ativan to relax a bit, and knew to tell them to freeze me properly. So, I’m lying on the table, exposed, with this new grad and her ultrasound scanning away…scanning….scanning…*puzzled look* “I’m going to go get the radiologist to take a look”
“okay…” *mildly begins freaking out*
The radiologist comes in and she was fantastic, but as she is scanning she tells me that she “thinks” she has found the area where the previous biopsy was done, but the mass is so small now that she’s unsure she can get a good biopsy. She does a bit more scanning and thinking and looking at the previous scans before telling me the biopsy is now going to have to wait until after my last round of chemo and PET scan in order for it to be targeted. The concern being that as soon as they inject the anesthetic she would lose view of the mass on the ultrasound and would not get any of the cancer DNA and I’d have to come back, which neither of us want (probably me more so than her :P)
Obviously I have mixed emotions about that! No biopsy is a win, plus the treatments are working…BUT it means I have to wait even longer for the POG study…