Wednesday, 10 December 2014


*This post is a little out of date as I wrote it straight after my last chemotherapy I've just been delayed in posting it. I met with plastic surgeons today so I kind of know what surgery I'll be having now. I'll write about that in a separate post....

So on Tuesday the 25th of November I had my fifth chemotherapy session - one more to go hurrah! Now I want to update you all about my genes. You may remember in my recent post about visiting my surgeon , I mentioned asking to be referred for genetic testing. I had assumed previously that if I did have a gene fault that may have caused my breast cancer, that there would have been other incidences within the family. Not the case however. I've discovered after talking to some of the lovely ladies online that is possible for a gene fault to travel silently through a family and to potentially only show its ugly face to one person. Ugh. So it became very important for me to know whether my genes have anything to do with my cancer and what steps I can take to reduce the chance of another one - like having my boobs and possibly ovaries removed. Simple measures obviously!

My surgeon asked them to see me urgently as the results of the testing will affect what surgery I opt for in the new year. My control freak side is also starting to raise it's head again at the moment and I feel like I desperately need to scrape together as much knowledge and information about my situation as possible. Dealing with uncertainty is definitely not my strong point I am discovering! And there is a whole lot of uncertainty here at the moment unfortunately. 

Slight panic (well, considerable panic) when I was told that they couldn't book me in until the second half of January - well after my proposed surgery date. However, they very kindly happened to find me a cancellation for the day after my last chemo this week. Its all go here at the moment!

After driving round for 40 minutes trying to find a parking apace at the hospital and ending up in floods of frustrated tears, I was over half an hour late for my appointment, However, the consultant was extremely nice and saw me anyway - who wouldn't take pity on an obviously stressed out, upset, scared young cancer patient eh?

The two main gene faults they normally test for are the BRCA1 and BRCA2 gene faults, which can be linked to breast, prostate and colon cancer amongst others. I'd spent the night before hurriedly collecting any family history of cancer (of which there is not much at all really - one breast cancer and two prostate cancers), which the consultant entered in to his magic computer, along with the details of my cancer. Nice Guidelines state that the chance of an individual having a faulty gene has to be over 10% once the calculations have been done for them to qualify for gene testing. Once my details and family history were entered, the chance of my having a gene fault came back at almost 38%, weighing heavily on it being a BRCA2 mutation. Yikes. However, this is probably an overestimation as we erred on the side of caution with a couple of areas that weren't clear - possibly three prostrate cancer instead of two and possibly two breast cancers in one relative during her life time.

Anyway, it was more than enough to qualify for testing, so for the second time that week I had yet more blood taken. Two blood tests and one cannula and it was only Wednesday. I am so over needles right now!

The results will determine what surgery I opt for in the new year, as I mentioned in my previous post about my visit to the surgeon. If there is a BRCA mutation, the decision is simple. Double risk reducing mastectomy. If there isn't a mutation, then the genetics consultant can calculate the approximate risk of another primary breast cancer raising its ugly head based on other factors including my age, and I can go from there. Decisions, decisions. I'd rather be pondering where to go on holiday next if I'm honest, but this is my lot right now.

There is also the possibility that the test will show an unknown gene variant - not too helpful really as as the name suggests it would be something that they don't yet know too much about. My DNA will be kept on file so that when new gene testing arises in the next year or so they can retest for other mutations.

Results from these tests normally take about 8 weeks to come back but as mine will be informing surgery they will try and get them back within 4 weeks. Exactly 4 weeks will mean results on Christmas Eve. Merry Christmas to me! Or not as the case may be....

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