GETTING TESTED FOR THE BRCA MUTATION

Since starting this blog and especially since Angelina’s BRCA mutation and subsequent prophylactic mastectomy hit the news, there has been more interest from friends and family who might be considering being tested.

The process isn’t necessarily complicated, but there are things that I discovered along the way, that you might not read in a manual or that your Dr will tell you. With this in mind I thought it would be a good idea to outline what I did (and should have done) when I got tested for the BRCA mutation.

I will say that this is my experience and my experience in Australia (with a bit of the UK health service thrown in). This is not a definitive guide and I have listed reference points at the bottom of this article where you can go for more information. If any Aussies want to tell me their experiences I will continue to update this post to make sure it’s relevant.

Before you do anything, sort out your admin

Before you think about getting tested it’s worth sorting out certain things you may not have already and may need further down the road.

If you don’t have life insurance, it’s probably a good idea to sort that out before you get tested so a positive result isn’t taken into consideration when calculating your premiums, or working out whether or not they will insure you.

More important than this, GET DECENT HEALTH INSURANCE.  I cannot stress this enough. I had some health insurance, which meant I was somewhat covered when it came to my operation. But my poor level of health insurance affected some of my decisions, including what hospital I could choose and what surgeons were available to me. Also, as a non-permanent Australian resident, as I am, you also need health insurance, otherwise you won’t be eligible for any rebate under the reciprocal Medicare agreement.

You need the health insurance before you get tested otherwise the BRCA mutation or any surgery resulting from a positive result will be seen as a predetermined condition and your insurance company may not cover you.

Know your family history

In order to qualify for testing, you will need to demonstrate why you might be eligible i.e. you have high incidence of cancer in your family. You will be asked this from the start and then time and time again if you do test positive and decide to undergo surgery.

Speak to your family members and find out who in your family has had cancer, what cancer they have had and what age they were diagnosed.

This quiz will help you determine whether you are at high risk, and shows you some of the questions your Drs will be asking to determine whether you are a candidate for testing. They include a family or personal history of breast cancer before the age of 50, incidence in two or more relatives, breast cancer in a male relative, cancer in both breasts or twice in the same breast, breast cancer and Ashkenazi or Eastern European Jewish ancestry and ovarian cancer at any age.

http://www.inheritedrisk.com/inherit-risk-cancer/

If you have not had cancer but think you may be at risk, find out if anyone in your family has tested positive for the mutation and request a copy of their pathology results.

If no one in your family has been tested, but you have surviving relatives who have had cancer, you may want to request that they get tested first. The reason for this is a little complicated but this extract explains why quite succinctly:

Genetic testing for mutations in the ‘cancer protection’ genes is complex. First, the mutation has to be identified in a family member who has or had the cancer.  This is called a mutation search and may take considerable time.

Second, and only if a mutation is found, other family members without cancer can be tested to determine if they have inherited the faulty gene. This is called predictive genetic testing (see Genetics Fact Sheet 21)”

http://www.genetics.edu.au/Information/Genetics-Fact-Sheets/Cancer-Genes-and-Inherited-Predisposition-Overview-Cancer-Genetics-1-FS47/view

My Dr explained it by saying, looking for a gene mutation is like looking for a needle in a haystack. But if someone gives you a map – in the form of your relative’s genetic mutation make-up – it makes it easier to determine an accurate result.

Speak to your Dr

To get the process in motion, I first went to my GP, explained my family history and that I wanted to talk to someone about testing. They referred me to the Hereditary Cancer Clinic in Randwick but your Dr will refer you to the best place for you.

Armed with my family history, my uncle’s pathology results and the name of the clinic where he was tested, the Drs at the Hereditary Cancer Clinic were able to put the wheels in motion.

Before you sign a piece of paper and give your blood to be tested, the clinic will ensure you have talked to a genetic counsellor.  They aren’t like normal counsellor in any way shape or form.  Their job is to ensure you have enough information about testing, what a positive result means for your risk, its implications and the options that are available if you do test positive.

Then when you are sure you sign a piece of paper and the testing process begins.

It takes about a month (if not less) to get the results. Mine was longer as they were getting my uncle’s blood from the UK and the NHS didn’t make this very easy for them.

Get some support

As a lot of you know I am a stubborn person who is determined to do everything by myself. Looking back I wish I’d sorted my support system a lot sooner. I have great friends, but you need people who get it. It didn’t help for me that I broke up with my boyfriend and got made redundant couple of days before I got my results.

Pink Hope are the Australian charity that helps women with both support and resources and I have met amazing people through them who told me things I needed to know, but would have never asked.

Other Facebook groups I’m a member of are called Previvors and the BRCA Sisterhood group.  These are closed groups and you may have to explain why you are qualified to join. I would say, these groups are brilliant, but I am glad I didn’t join these particular groups until I was ready to have my preventative mastectomy. Culturally American groups are very different from Aussie and UK groups – we are a lot more conservative and less likely to share so honestly, or visually. This is brilliant for when you’re going into surgery, but at the BRCA testing stage I’m not sure how helpful it is to see women’s reconstructed breasts. The ‘freak-out’ potential is a little too much.

I started seeing someone professionally following my diagnosis. I only went a few times but I do think it was useful to help try to process everything.

Results day

Take someone with you and get them to drive you.

Despite having broken up with Mr F a couple of days before the test, he was the person I wanted to come with me.  Go figure huh.

Just having someone there immediately after helps avoid those feelings of despair and the opportunity to overthink.  We went and had a lot of wine and spoke about everything other than my new BRCA status and our relationship.

A positive result

Remember throughout all of this, you may not test positive.  But if you do, it’s not a death sentence. You need to remember you don’t have cancer and chances are, you may not get it any time soon. Take your time deciding what you do next and like I said, lean on everyone you can for support.

Resources

–          http://www.australianprescriber.com/magazine/34/2/49/51#.UZoFQ7Vgd2A

–          http://www.genetics.edu.au/Information/Genetics-Fact-Sheets/Cancer-Genes-and-Inherited-Predisposition-Overview-Cancer-Genetics-1-FS47/view

–     http://www.genetics.edu.au/Information/PublicationsBrochuresandPamphlets/Genetic%20Tests%20for%20Breast%20and%20Ovarian%20Cancer%20Decision%20Aid

–          http://pinkhope.org.au/

–          http://www.mydestiny-us.com/

Advertisements

My Rusty Shield of Steel

This is an old blog post from 2011 and boy, is life different now. It’s amazing how much positive I see the situation I’m in now – which is a far cry away from the scared girl who wrote this post before being given the gift of knowledge.

batfink

I figure there’s a million different ways to react when someone you love dies. No two circumstances are the same, no two people emotionally identical, and no response should be deemed normal or abnormal.  However I do think there are common responses to losing someone who has given you unconditional love since the day you were born.  Provided you with the answer to every question you’ve ever had and acted as the most inspirational role model you’ve ever had, and maybe, you’ll ever get.

Some people go into depression, shut themselves off from the world and lose the will to live.  I believe that some people die from a broken heart, and some find comfort in the love of another.  A current partner, a new partner, or even a band-aid baby.  There’s a big gaping hole to fill, so someone else provides some sort of plug.  Substance abusers or obsessive compulsives lose themselves in their  obsessions.  The floaters spend their lives moving from one thing to the next, hoping that the next place won’t hurt as much as the last. Or your independent ones wrap themselves in MC Hammers trousers and repeat his mantra, ‘you can’t touch this’, in reference to their heart.Maybe I’m being too simplistic.  If I think about me I’ve definitely had bouts of depression.  I’ve certainly lost myself in a bottle of wine or four.  I’ve controlled my food within an inch of my life and I even became a fitness instructor on top of a full time job and busy social life in order to literally run away from the pain.  I’ve run away twice, once from Cardiff to London, and the second time from London to Sydney.  However, my main response has to have been my shield of steel.

I haven’t really had a relationship since my mum died.  The ones I did have, I was either clingy and needy or closed and unreachable, afraid to get hurt.  I knew no one could replace my Mum, so why bother trying to even think about loving someone again?  It’s not that I couldn’t have a boyfriend.  I just chose the ones that didn’t want to be one and ran from the ones that did.

10 years on and I have the pleasure to meet the lovely Mr F.  Kind, funny, caring, and one of the may parts to the reason I came to making my decision to get gene tested.  He made me believe I could have a life.  A life where someone loves me, where I could think about having children.  A life where I had a future.

However, 10 years is a long time not to let anyone in, other than friends on your own terms, in.  Someone recently told me that my emotional fridge has gone septic.  I’ve left food brewing there for so long my fridge has given me a superbug, and it’s function has collapsed.  My emotions, that may or may not have been released by the possibility of being in love, have gone haywire.  I have spent about three months crying.  Pretty much every other day.  This as you can imagine is not good for any fledgling relationship.

I ask him for guarantees.  That he’ll tell me where we’ll be in 6 months.  That he’ll promise me we’ll live together in a year, be married in 3. The terrible thing is that I don’t even know if I want these things.  Not just now at any rate?  The girl i knew with the shield of steel would never behave like this, never request a rubber stamp on a relationship that’s barely started.

What I can’t put into words though, is that I’m so scared.  I’m terrified.  I feel like death is around the corner, and even if it’s not, what is, is a life as a baron and asexual 35 year old with too many issues to ever be with anyone else.  I’m terrified that I don’t know what’s about to happen to me and I just want someone to look into their crystal ball and print me off a report of my life for the next 10 years, thank you very much.

So as my rusty shield of steel starts to fall apart and I wonder where I’m going to get the strength from?  the strength to not fall apart.  The strength to not push the people I love a million miles away from me and have to do this on my own.  The strength to live today as today, and enjoy it, and not take for granted this fragile life I still have the privilege to be very much living in.

Before the test

I first wrote this on March 7, 2011, before i had been tested to see if I had a BRCA mutation. Life’s very different now, as is my mindset, but I thought it was worth starting at the beginning – or at least somewhere in the middle.keep-calm-and-take-the-test-3

How I got here?
So the road to getting to this spot in my life, where I’m putting in the processes to find out if I have the BRCA gene, is a long and complicated one. But isn’t everyone’s? No one really gets up in the morning and has an innate fear about getting cancer unless there’s some other stuff going on.

Mine probably started when my mum contracted breast cancer at 43. I was 17. Mine and my family’s world was rocked. My mum on the other hand had an eerie inevitability and acceptance about the diagnosis. As though she always knew this day would come. Her own mum died at the rip old age of 53, and there were a couple of Aunty’s in this genetic cancer pot also. 3 years later, with a 2 year respite in between, she was dead. Ravaged by a cancer so aggressive it ran through her body like wildfire.

I’m sure I’ll talk about my wonderful, strong and vibrant mum about a million times in this blog, so forgive me for not covering everything about her here. I will, I promise. And will probably repeat it again and again further down the line.

So 10 years ago on 22nd January, the game of hide and seek I play with the dreaded C bomb began. Even though I didn’t admit it did. I refused to even talk about getting tested back then. I didn’t want a ‘life sentence’ hanging over me. Ironic really, because it has, and I’ve reacted accordingly. Running from my home town Cardiff in the cold South Wales (not the hot new one I live in now), I went to London to begin my journey of avoidance. lots of booze, a couple of eating disorders along the way, an obsession with exercise which remains, a lack of meaningful relationships with people who aren’t my friends, and friendships on my terms I guess? Almost 9 years after and it’s time to run, take two. This time to the other side of the world; Australia. Surely cancer can’t find me here.

At places during this time my mindset has shifted to this point today. I twice decided to speak to someone about getting tested. At the time I would never have contemplated taking the measures I’m contemplating today following a positive result, but I was curious. However, science or the UK health system wasn’t the same at the time and no one could really find anything without testing a living relative who had or was suffering with the disease. 3 years ago, maybe more, my uncle, my mother’s brother died of prostate cancer. With a positive test for carrying the BRCA gene I now have the knowledge needed to see if I too am a carrier.

And in a massively summarised version, this brings me to today and this blog. I have spent 10 years developing an exterior made of steel. Priding myself on this exterior. In hindsight I don’t think it’s done me any favours. But as I made the decision to start the process to find my ‘elephant in the room’ I have become a bit of an emotional wreck. The information I need to process is overwhelming and one curve ball of consideration after another keeps cropping up. So whether this helps at all, this is my current form of therapy. A journey of discovery in so many ways. For myself, my emotions, my knowledge, and my relationships.

My goal? It’s not to find the gene I don’t think. I think it’s to start living my life again. To enjoy, to stop putting everything off. To grow up and enjoy being an adult, without the fear of my life ending dramatically and suddenly. Who knows. I may find the opposite. Find the ‘elephant’. Reach my ‘inevitable’. But at least I will have tried. Tried to act on the knowledge I have. Stopped playing hide and seek with cancer.