Gene-ius

*This post is a little out of date as I wrote it straight after my last chemotherapy I've just been delayed in posting it.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....

Scalpel please

I’ve managed to drag myself out of the docetaxel induced illness stupor I’ve been in for the last week to write about my visit to see my surgeon last Friday. I’ve been feeling quite useless this week having done nothing of any value apart from sleep and have the occasional hot bath so I’m hoping writing this post will at least go part way to rectifying that. Feeling useless seems to be par for the course for me at the moment, but that’s another blog post….

Anyway, last Friday I went to meet my surgeon to discuss plans for the new year. Not which festivity we’ll be at to see it in sadly, but rather which bits of my body he was looking to remove in January. The first time I met him was when I was coming round from a general anesthetic, looking like a smurf after being injected with blue dye and having five lymph nodes removed. As usual, I was the youngest in the waiting room at the breast clinic by at least 20 years. Cue stares of confusion and puzzlement, particularly when I am called in to the consultation room rather than my elderly relative walk out of it.

The reason that I have been given chemotherapy first is to try and shrink the tumour down so that it can be removed with a lumpectomy rather than a mastectomy. As I am not exactly blessed in the boob department, removing the lump without shrinking it would have left me with what could probably be described as a mangled tit. However, after lots of reading and researching, I have begun to think that a lumpectomy is not for me – rather I would just get rid of both of the buggers to try and give myself the best possible chance of not having another primary breast cancer.  ‘But that’s such a big decision and so traumatic!’ I hear you cry. Yes it is – but do you know what is more traumatic? Having breast cancer. Believe me, I know. A double mastectomy doesn’t remove the risk entirely but it certainly reduces it.

However, this isn’t an operation that NHS doctors tend to do simply on request. As my GP put it, doctors are trained to make people better – to remove bad tissue and leave the good stuff. To remove healthy tissue with no obvious reason goes against the conventional doctor’s way of thinking.

I went to see the surgeon, struggling with the unpleasant beginnings of tax side effects, almost prepared for a bit of a fight. I wanted to ask for a referral for genetic testing purely based on my age. I have no strong family history of breast cancer – my paternal grandmother possibly had it in her 80s however certainly didn’t’ die from it. My tumour also doesn't have the characteristics that can indicate a BRCA 1 gene fault – triple negative and very fast growing (grade 3). However, the simple fact is that I am 32 and I have breast cancer. That in itself is very unusual and for my own piece of mind I need to know whether it is due to a gene fault. Then I can take whatever steps are needed to reduce any further risk of another primary breast cancer or other related cancers.

However, surprisingly the surgeon agreed with everything I said and confirmed he would put me on a quick referral to genetics as the result of the testing would determine the type of surgery I have in early January. For the first time, I felt like someone in the medical profession was treating me as a younger woman with breast cancer, rather than a woman with breast cancer. If that makes any sense at all. He also told me that in dimension terms, my tumour had shrunk by almost half and that a lot of what I could feel now was probably scar tissue, formed when cancer cells die. Pow - take that you bastards!!

So to the surgery and which bits of me will be no more come January. Basically, if genetic testing shows I do have a gene fault it’ll be a double mastectomy, one at a time. I’ll have the bad one off first, with delayed reconstruction as I’ll need to have radiotherapy. Then when they come to reconstruct the bad side, they’ll also take the good one off and reconstruct that one immediately. It does mean I’ll be a one- titted wonder for six to twelve months but I can cope with that. I’m not exactly Katie Price in the boob stakes – it’s nothing that a good prosthesis and a bit of padding won’t fix. Getting naked in front of a new fella (wishful thinking here) might be a bit weird but to be honest, if one temporarily absent boob puts him off he’s not the one for me. Amright, ladies??

Anyway, if there isn’t a gene fault, but the genetics team say I am at increased risk of another primary breast cancer due to my age, the same surgery can still be done, it’s just that ‘there are a few more hoops to jump through’ as my surgeon put it. One of these being me seeing a psychologist to ensure that my fears about having breast cancer again are likely to be reduced by having a double mastectomy. No point whacking them both off if I’m still going to be panicking about it is there? However, I don’t think anything ever ensures that the fear leaves you entirely. As one woman who is now three years from her diagnosis said to me – it never goes away; it just gets easier to deal with.

I’ll also need a level two node clearance , as my sentinel node biopsy showed one node out of five removed involved. A level two clearance basically means taking all the nodes out from under your arm up to your chest. To be honest, this scares me more than the removal of my actual boob.

So basically, the outcome of my genetics referral will ultimately determine the surgery that I have. As regards the type of reconstruction, this is totally way over my head so I’m being referred to discuss this with the plastic surgeons. However, if I lose my nipples. I have decided I want roses tattooed on instead or maybe hearts. Or even the Chuckle Brothers.

I still may be able to have a lumpectomy, but if not, do I feel sad about the potential loss of my boobs? To a degree, yes. I’ll lose a part of me and probably end up with a pair of foobs with no feeling in them that someone could set fire to and I wouldn’t notice. My boobs used to be one of my favourite parts of my body – until one of them tried to kill me that is. So you could say my relationship with them is not the best right now. We’ve fallen out big time. It’ll take me a while to forgive them  - well, one of them anyway. So I won’t be too sad to see them go. But if I do have to say bye bye to my boobs or tara to my tits, I’m going to give them a good send off - a party with bubbly, cake and balloons. And guess what the theme will be.....?

Younger women with breast cancer - Sarah P's story

The first personal story I am featuring on my blog as part of breast cancer awareness month is from my good friend, fellow feminist and tumour twin Sarah Perry, aged 33:


More of Sarah's wonderful scribblings can be found on her blog.


'There were two things that brought me to the Breast Care Clinic at Glenfield Hospital for an ultrasound scan on 18^th July 2014. A wonky nipple, and stubbornness.

 

I’d spent the last 18 months obsessing over cancer – and with good reason. On my mother’s side of my family, just looking at the women across 4 generations, this is what my family tree looked like:

·         My great grandmother – died of ovarian cancer in her 50s. Had one daughter...

·         My grandmother – diagnosed with breast cancer at 59, died at 66. Had one daughter...

·         My mother – diagnosed with inflammatory breast cancer at 47, died at 53. Had one daughter...

·         Me.

It actually wasn’t until my mom died at the end of 2012 that I started to panic about this pattern of cancer. I only have a small family, so the numbers aren’t huge – three cases of breast/ovarian cancer across three generations. When you start reading information online about hereditary breast and ovarian cancer you’re told everywhere you look that most breast and ovarian cancers aren’t hereditary, breast cancer is so common in the UK (1 in 8 women) that many families will have multiple cases of breast cancer within a family and that doesn’t mean anything, and you need at least two close relatives to have been diagnosed with breast cancer (mother, daughter, sister) to be considered for genetic testing.

But when I sat and thought about it, I wasn’t reassured. It might only be three women in my family across three generations, but they were the only three women in those generations! And my mom was young at diagnosis. Plus the combination of breast and ovarian cancer was a red flag. So at the start of 2013 I went to my GP and made my case to be referred to the Family History Service.

 

To try and cut a long story short this is what happened: The Family History Service referred me to the Genetics Clinic who thought the pattern of cancer in my family was suggestive of a fault in either the BRCA1 or BRCA2 genes. I had a genetic test and got my result in April 2014. It was an “uninformative” negative. This means that no fault was found, but as no living relatives with cancer were available for testing, they didn’t know if this was because there was a BRCA fault in my family which I was lucky and did not inherit, or if the cancers in my family were caused by an as yet unknown genetic problem which I could have inherited.

 

However, I was told that while I would still be considered high risk, having no faults in my BRCA1 or BRCA2 genes was very, very good news – they were the most likely offenders in my family and the most dangerous genes when it came to risk of breast and ovarian cancer. I was told I should be happy! I should relax now!

Yeah well, I wasn’t happy and I didn’t relax. I’d done my research, and while both breast and ovarian cancer in a family suggests a possible problem with the BRCA1 or BRCA2 genes, the specifics of the cancers in my family (detail I won’t go in to here) didn’t fit the profile. I was convinced that the cancers in my family were hereditary, but caused by another genetic problem.

 

At this point I think the people around me started considering my cancer worry as a mental health problem rather than a physical health problem. Oh if I had a pound for every time someone (who didn’t really know what they were talking about) told me not to worry, that the test result was good news, and that I should just put it out of my mind I’d be a millionaire! (Ok maybe a slight exaggeration but I’d certainly have enough for a bloody good night out.)

 

But remember, I’m stubborn. I have a mind of my own, and when it’s set on something, I’m not easily swayed or fobbed off. And in this situation, this might just have saved my life.

In July 2014, just three months after my good news genetic test result, I noticed my left nipple looked kind of wonky. It was really subtle. I wasn’t even sure myself if it had just always been that way or not. But being the cancer-obsessed-panicker that I had become, two days later I was showing it to my GP. She wasn’t worried, if there was a change it was probably hormonal and she said she’d look again in a few weeks. I went away. I wasn’t happy. I am stubborn. I called back and insisted on an urgent referral for an ultrasound scan to check it.

 

And that’s how I ended up at the Breast Care Clinic on 18^th July for an ultrasound scan. A wonky nipple, and my own stubbornness. I had so many supposed reassurances – I definitely didn’t have a BRCA fault, I was only 33, the nipple change was subtle and no one could even feel a lump – but none of this mattered to me. I knew I was next on cancer’s hit list and I wasn’t going to ignore even the tiniest thing. The ultrasound scan which I was having for my own “peace of mind” (to shut me up) clearly showed a gnarly cancerous tumour. There was no mistaking it.

 

This was the one time in my life where I would have liked to have been wrong. I’d have liked nothing more than to have looked like a silly idiot that day, to have been over the top, to have to apologise for wasting people’s time. But (as always!) I was right. It’s a good job I was stubborn, it’s a good job I insisted on getting it checked right away. Time is everything when it comes to cancer. The earlier you catch it, the better.

 

If there were three things that I would want anyone who has read this far to take away from my experience they would be:

·         When it comes to your health, don’t ever, ever be fobbed off by anyone, including the doctors and experts. If there is something you are not happy with, or not sure about, get it checked. And if necessary, get it checked again, and again, and again, until you are satisfied. If you have a gut feeling about something, even if it doesn’t make sense or you can’t quite put your finger on it, you should listen to it and trust it.

·         Not all breast cancers are identified by a lump. Be aware of all the signs. Mine was a wonky nipple. My mom’s cancer was inflammatory breast cancer – signalled by changes to the skin. Know your own body well, know the signs well, be vigilant. Then if there are any changes caused by breast cancer, you’ll spot them early and probably save your own life.

·         Be aware of your family history of cancer. Don’t panic about it – most breast cancers really aren’t hereditary. I’m in an unlucky minority. But it’s sensible to be aware of any cancers in your family, so that if a pattern does emerge, you can let your GP know and take it from there.

Anyway, if you’re interested in any more of my own story, I’m blogging over at hbocuninformed.blogspot.com. I’m writing about hereditary breast and ovarian cancer, and my own experiences since a cancer diagnosis. If you have any questions about hereditary breast and ovarian cancer please contact me via my blog, I’ll be happy to try and help if I can.'