Well, not really a fraca, but after eleven weeks I received my BRCA genetics test result today after I supplied a blood sample and undertook genetic counselling before and after the test. As a breast cancer patient under 40 years of age, with a family history of breast and prostate cancers and having an aggressive cancer type, I was tested free of charge in the Australian public health system. Tests cost around $3000 if outside the testing criteria and can take a long time to get results for. This genetics testing process started way back here.
These genetics people are a bit under the pump since Angelina Jolie educated the world about these BRCA genes and the impact of them on her life in the New York Times. Then there is the concerning business of genetic patenting that is going on in the Supreme Court in the US at the moment. Should a company own and control these genes? Aren’t they our genes? How concerning for us all! A BRCA Fracas indeed!
The Giant was not able to be present to deliver the news but I had the lovely company of ‘The Red Lips’ and was introduced to the new ‘Dr Gene’. Together, they kindly posed for a shoe picture would you believe!
Comments about their fine leather footwear aside, that is some of the best hospital carpet I have seen to date on this journey. It’s like a zillion genes floating around as a myriad of unknown and unidentified mutant clusters, each gene with 400 of its own surface switches that can flick on or off depending on their environmental influences, the game playing of the activator genes, and the mutant combinations that exist when up to 20 of them get together and do good or evil things inside the bodies and minds of living creatures. This genetics business is very complex indeed. But the carpet, the carpet was amazing!
So here I am at a meeting on my own to discuss the role of two genes. BRCA 1 and 2. That stands for breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2, respectively. Such creative names! When really some of you are thinking, what does it matter to her, she can’t prevent breast cancer now! And why oh why is she looking at the carpet? Focus Lisey focus!
So after a lovely Wednesday morning meeting with the geneticists, It would appear that I don’t have the BRCA 1 or 2 genes at play with my breast cancer. Only 5 to 10 percent of breast cancers are thought to be BRCA related anyway. So what does this mean going forward?
It confirms that my treatment plan is appropriate for me. It means that my risk of ovarian cancer is reduced from 50-60% (if I was BRCA positive) down to that of the general female population of less than 1 percent. That is not to say I would never get ovarian cancer, but my risk is normal in the population. I can stop thinking about future oncological conversations about removing my ovaries now.
It also means that the chemo regime I am on is appropriate for me. If I was BRCA positive I may have had to endure a slightly longer chemo. (This is contentious in oncological circles, but can make a slight difference to treatment.)
It does not alter my decision to have a second mastectomy in the coming months as that decision had been made already irrespective of BRCA status, based on my unique cancer pathology which puts me in the high risk of recurrence category. I do not want to spend the rest of my days squeezing my breast in the shower and fretting about lumps. Nor do I want to have regular George Foreman torture mammogram experiences and ultrasound screenings and wait for ‘scanxiety’ to kick in while I wait for the results. In all likelihood, I am at a greater risk of the cancer metastasising in my body, rather than an entirely new primary (contralateral) cancer starting but I’m not let that happen. A mastectomy reduces my risk of a new breast cancer starting to the below that of the general population.
It also means other family members in my line now and into the future, can worry less about BRCA gene mutations being at play unless future breast or ovarian cancers crop up and then they may want to look at their own unique family history and be tested.
This negative result doesn’t give my family any information about links between breast and prostate cancers of which there is quite a few cases in one line of my family as well as many other types of cancer. If anyone in my family develops cancer going forward our family cancer genetic history is being genetically tracked and if they wish to participate, researchers can benefit by adding our genes to a gene bank and perhaps make future discoveries.
Of course, genetics is an incredibly complex field and there is much they dont know.
So on that note, it’s safe to say that although I don’t share a positive BRCA gene result with Angelina Jolie, I do have other things in common with her. We will both have had double mastectomies and reconstructive surgeries in 2013 (I will have been lucky to get me some chemo and radio as well and lost a few dozen lymph nodes), and most importantly, we both happen to have hot partners. Virtually twins we are!
Pink Hope is Australia’s first community designed to inspire women to be proactive and vigilant with their breast and ovarian health, while providing a safe haven for high risk women to connect. Go to http://pinkhope.org.au for info.
Since Sunday, I have spent time with three very important women in my life and I have broken down in tears with each of them. There has been a mental shift since the weekend of wonderful experiences with my awesome Melbourne friends.
I visited my dear Nanny who turns 90 in April. She never ceases to amaze me. She was 52 when I was born. There was so much living that went on in her life before I even met her and she is still with us. She has experienced her fair share of loss from cancer in recent years. But she is a strong and upbeat lady. Her sunny disposition and genetic luck has allowed her to live a long life, much of it without teeth. In the late 50’s she had a dentist in London remove her ailing teeth to prepare for dentures, except she immigrated to Australia on a ship earlier than anticipated and the dentures never became a reality. Her sweet sunken cheeks have always been the vision of the perfect Nanny to me.
I had a visit from my awesome sister in-law who played lifeguards with my children for hours, rescuing imaginary swimmers from imaginary sharks in our garden. With credit to “The Octonauts” children’s television program, the species of sharks were diverse. From the surf lifesaving tower on the deck they took turns at the command post talking into pretend walkie-talkies. This was to the delight of my eldest son who had not removed his lifeguard cap for three days prior. She cooked us dinner and cleaned our bathrooms before she raced back to the airport for her return flight to Queensland. My brother chose for himself an amazing life partner and mother for his children.
I also had a pop in visit from my wonderful mother in-law yesterday as I frequently do to see how we all are. She has the knack at turning up at the most perfect of moments. She has a kind of sixth sense of sorts which I am eternally grateful for.
There is something very powerful about embracing another woman that you care for when you have breast cancer. The disease is taken very personally. It sniggers at the qualities that make us mothers, daughters, sisters, aunties, nieces, grandmothers and granddaughters. It attempts to sabotage a bond between women. But cancer can never get in the way at that. An experience like this just draws people even closer.
Even as I type this the tears are welling a little behind my eyes. I’m thinking this may be the start of the depression procession of sorts, or it might not be. I just have to watch where this goes and act quickly. The breast care nurse told me not to wait, but to see my GP for some anti-depressant medication. I have never dallied with anti-depressants in my life, but I was given some post diagnosis and one of the side effects made me anorexic. So I understandably have some trepidation. I first would like to try my own ‘walk and talk therapy’. This is where I walk for an hour daily, and talk to as many people as possible about how I am feeling. I am now fit enough three weeks post mastectomy to get out and move again. I can’t yet run as I am still healing and the tissue expander is settling. But exercise has been so beneficial to my moods in the past. I think this might help me immensely. I might also see a psychologist to have a chat, though I think psychologists should have really great coffee machines in their rooms. Maybe even some biscotti or something. That might help too.
Part of me is wanting to rebel against the predictable pathway of the breast cancer experience. I am seeing this common journey that women take on forums and blogs and in the knowing looks of women sitting in hospital waiting rooms. Doctors and nurses are quick to try and solve the problems for you. Often with medication. But it is just going to take time. Emotionally I will fall apart. It is a given. But I will put the pieces of myself back together again. Of course it is easy for me to articulate this at present, as I haven’t yet been gripped by the effects of chemotherapy. But this needs to be ‘MY’ journey. I don’t want to be told I will get depressed. Or my hair will definitely fall out. Or my nails will turn black and fall off. Or my bowel will never be the same. A self fulfilling prophecy effect will have no part in this. I need to let the experience unravel itself.
It has been two months since this cancer wheel started spinning. It has been a bit like being on a spinning ride and the Royal Show. The Gravitron ride was a favourite when I was younger. It looks like a spaceship and you enter and lean against the wall. You are propelled round and round with such force that you just grip on as tight as you can. You can’t really move as the force is too great. And then as it slows and gravity takes hold, you see the people opposite pulling their dresses back down to a respectable place and wiping saliva from their faces. Slowly but surely, everyone is back in the land of gravity, or should I say reality and the dance music stops. Then everyone gets off and gets on with things. Suddenly, since the surgeon, plastic surgeon and breast care nurses dumped me, I have all of this time on my hands to think about what has actually occurred in the last eight weeks.
To add to this reality, today I met the geneticists from the Peter Mac Familial Cancer Clinic. There were two people. Geneticist One was nearly seven feet tall and wore glasses. He was an enormous graceful giant. His height may have instilled in him an interest in how genetics worked and this may have been motivation enough to follow this career path. He reached out with his gigantic hand and softly shook mine. We walked the corridor side by side and went into a consult room. As he stooped through the doorway to enter the room I expected to see a beanstalk and a golden goose. But there waiting behind the door was a genetics counsellor. A stunningly beautiful girl, fresh from university and dressed impeccably. She presented a set of perfectly pursed lips painted with a deep red lipstick. I so wanted to get out my iPhone and take a picture. A new obsession perhaps? For a while I found it hard to absorb what she was saying because of her lips. I kept focusing on how they moved. Then how her wonderfully styled brunette hair framed her face.
I had gone prepared with all of the dates and as much as I knew going back four generations. The information covered relatives from both Australia and the United Kingdom, many of which I have never even met before. Much of this information I compiled by trawling though the work my eldest brother had done on the Ancestry.com website. I am really grateful for his interest in genealogy. I also contacted distant relatives via Facebook, and got some information from my Mum. Armed with these pages of causes and dates of death and existing illnesses I marched confidently into the room. Impressed with the research data, the gorgeous red lips asked me if I was from a research background. I told the lips that I used to be a teacher and lecturer and I love to research. I thought I was just going to supply them with information about my family cancer tree today. Easy.
I was so naive.
I had not prepared for the level of emotional and intellectual drain this meeting would entail. The beautiful woman in front of me was full of information. But there was a deliberate tilt of her head which revealed a kind of pity to me. She obviously thought she knew where my journey was heading. Like she has access to a crystal ball or she has seen this journey many times before. Talking with the broken about their potential mutant genes as they are gripped by this disease, as they search for an explanation as to why they are afflicted. So I decided not to focus on the head tilt anymore.
After looking through the details of my family cancer history, there was discussion about gene faults that if found would put me at a higher risk of developing breast cancer in my other breast. Then they pre-empted a discussion that I might be having with my oncologist in weeks to come, this time about my ovaries. If I test positive for one of the BRCA 1/2 genes, breast cancer women under forty are advised to have their ovaries removed. There was also discussion about multiple potential gene faults merging to have created some crazy mutant genes that can cause young women under 40 to get breast cancer. I don’t really need to know about this. I can’t prevent what is done.
What does all of this mean?
The reality is that only 5 to 10 percent of tests come back positive for some genetic link. Many responsible genes and genetic mutations have not been discovered yet. Though there is certainly a chance that in 15 years researchers will have discovered more genes at work with this breast cancer disease, if genes are even a factor. It is such a complicated matter how diseases occur in some individuals and not others. The ‘nature versus nurture’ theorists are still pointing their fingers and arguing on the sidelines.
I am informed that my blood sample will be stored and will be used in the future by genetic researchers. I enthusiastically offered up litres of blood for this purpose and this drew some laughs from the Giant and the Beauty. One vial is enough. But I find this research to be positive. After all, this process is how the BRCA 1/2 gene faults were discovered and this has benefited many.
Today, genetic testing might assist some breast cancer women and their practitioners to make decisions about whether they will undergo particular treatments in favour of others. It is also a process high risk women (such as those with one or more close relatives having had breast cancer) might explore to assist them to make decisions to prevent breast and ovarian cancer from occurring. There are many women in Australia and around the world who have spent much of their lives worrying about the risk of getting this disease. There is a whole network of women supporting one another through a great organisation called Pink Hope. It can be found at http://www.pinkhope.org.au. These women cling to the results of their genetics tests. I feel quite guilty given I had never given breast cancer a thought and have been free of the worry these women have had to endure, and yet the disease found me anyway. Here I am, today, with a genetics counsellor talking about breast cancer genetics.
In my case, the decision has been made, given my cancer is multifocal and aggressive there will be a second mastectomy, so I don’t need the results of a genetic test to tell me what I should do. There will be post mastectomy radiotherapy and genetic testing is not a useful indicator for whether to do this. But it might clarify the ovarian issue down the track. If I am negative for BRCA 1/2, it is unlikely the ovaries will need to be removed. This is a really important decision, as removing ovaries prior to menopause can lead to a whole array of health issues in young women such as osteoporosis and heart disease. But if faced with having a BRCA 1/2 gene with a hormone receptor positive breast cancer and preventing ovarian cancer I know what I would chose.
After almost two hours of discussion about genetic testing, information, privacy issues, disclosures, pros and cons, ramifications of it moving forward, etc, I am clear that genetic testing will be a good thing for me and my immediate family, but I will talk at length with Mr Cool about this. I also like the idea that I am contributing to a research data bank.
There is just one small matter to be sorted. Before I can sign on the dotted line, I have to see what the ramifications on my existing life insurance policy are of genetic testing, as it can substantially alter or even void some policies. So I have to look into this before the signing and supplying of a blood sample. Some types of insurers don’t like the risk associated with someone who has tested positive for some genetic predisposition. Bastards! Luckily my ‘future self’ told me to take out a life insurance policy a year ago as I had no current coverage through my superannuation as a stay at home mum. I would be “up shit creek without a paddle” if I wanted to take out a new policy now. Thank you again future self.
Down the track, my family might like to know the results of this test. There is no urgency for any of them now. But if I have any genes responsible for this cancer, it might be beneficial for one of my brothers to be tested. If he has the same gene then as parents, they may impart such information to allow their children to make a decision to be tested when they are adults. Likewise, all of this applies to our own children, my cousins, and my cousins children. This is all irrelevant at the moment but it is worth giving some thought to future possibilities.
Genetic testing is a highly sensitive and deeply personal issue. It does have quite large ramifications for the future. People can use the knowledge about genetic predispositions in many ways. Some might live proactively and live a healthy lifestyle and be screened. Some might live in fear of developing a disease they have a gene mutation for. Some might chose a route of cowardly defeat and live a lifestyle detrimental to health as if they are saying “whats the point?” Some might not ever give their genetics a thought. Of course, there is also the possibility that one could have a genetic mutation for a particular disease and it is never activated in their lifetime. There are no guarantees with anything.
I was glad I had the opportunity to sit with the Giant and the Beauty for two hours. I look forward to my next meeting as it feels like I’m back in the dating game.