In a small cramped office, my fiance and I were seated to hear the results of my genetic testing. I had invited my parents along but I wasn’t nervous at all, because I knew in my heart I wouldn’t test positive.
How could I possibly have the breast cancer genes when I had no family history of breast cancer?
But maybe I should have braced myself for the worst. That way I wouldn’t have been so shocked, and hurt by the results.
It felt like someone had punched me in the guts.
When the genetics councillor told me that I had tested positive for the BRCA-1 mutation, I couldn’t stop crying.
Even though I was only 29 when I was diagnosed - so uncharacteristically young for someone with breast cancer- not one of my doctors brought up the subject of genetic testing.
I had to ask for it. No, no I had to fight for it.
I pushed my medical team for my right have my genetics tested right around the time I was having treatment.
In the middle of chemo, I brought up the subject of gene testing to my oncologist but he dismissed me. “Tackle the cancer at hand,” he said.
“We can explore the genetics later on.”
His answer seemed logical but yet my intuition told me I needed to dig deeper.
At that point I didn’t know how finding out about the genetics side of things would affect my treatment - but I knew in my gut that knowing the results was important.
My mantra throughout my breast cancer journey is that:
Knowledge is power.
Like a child that wanted something so bad and had been told NO, from one parent, I brought up the issue again with another specialist - my breast surgeon.
Unfortunately, I also hit a brick wall trying raise the issue of gene testing with her.
My breast surgeon echoed the same sentiment as my oncologist.
Deal with the genetics side of things later on.
At that point, I decided to leave it alone. I had two specialists telling me to leave it for now.
So I decided to move on and tackle the next issue in my treatment plan. I went to seek the advice of my GP to chat about my upcoming surgery.
Lumpectomy or mastectomy?
My gut told me to go for the mastectomy. But did I dare to go against the advice of my breast surgeon? Could I have my own opinion regarding this?
My general practitioner, an older lady was empathetic to my concerns about a lumpectomy.
“Let’s get you a second opinion!” She dialed the number of a breast surgeon she had initially wanted me to see when I was first diagnosed but couldn’t because she was away on holiday. I later found out she was the breast surgeon of Australian celebrity Kylie Minogue when she had breast cancer.
Getting a second opinion with her would be a coup. If she was good enough for Kylie, she was good enough for me.
As I walked in to Miss Jennifer Senior’s office, she assumed I was there to ask for a second opinion on a mastectomy. She looked at my breast ultrasound - the tumour has shrunk to 1 centimetres. She felt my breasts and reassured me the “shadow” seen on ultrasound was just scar tissue.
I had a great response to chemo, and she thought a lumpectomy was indeed the best option for me.
I said “No no, I’m here to see if you think I should have a mastectomy instead.”
In that moment I asked another question, which flew out of my mouth and which I didn't realise was such a turning point in my quest to be heard by my specialists.
“If I tested positive for the gene, would you still recommend a lumpectomy.”
My advice for those who have concerns about their treatment,
Don’t underestimate the power of a good question. And most importantly don’t let anyone brush off your concerns. Follow that gut feeling in your stomach that senses something isn’t right. Always follow your intuition because it will always guide you to the right direction.
When a question is put forward in a certain way, it will reveal answers that you really need. And I needed the information of my gene testing to make an informed decision regarding my upcoming surgery.
At last someone was taking my concerns seriously because she told me if I tested positive, then she would recommend a mastectomy instead of a lumpectomy.
Sometimes a second opinion can be a way to educate ourselves, because most of the time we just don’t know what we don’t know.
Gene Testing and Young Women with Breast Cancer.
Results of genetic testing would normally take months to process. But because my surgical decision would be based on the results of the genetic testing, I got my results within two weeks.
Even though I was already leaning towards getting a mastectomy, I guess I needed further validation that I was doing the right thing from the genetic testing.
The testing involved a simple blood test and receiving the results was a formal consult with the genetics councillor and an oncologist that walked me through future cancer risks, screening and prophylactic surgeries.
I’m so lucky that in Australia, genetic testing is available. 7 years ago, I didn’t pay any out of pocket for my testing, although things may have changed now.
I believe that all young women that have been diagnosed with breast cancer should have genetic testing done. The earlier the better, because the results could have implications on treatment.
Testing positive was a tough pill to swallow in the beginning, and I’m not going to lie, it’s very confronting when someone is telling you about your future cancer risks. It takes me back to that movie Gattacca with Ethan Hawke where everyone has a place in society, based on their genetic makeup.
Fortunately our society is not quite there yet, but it’s a slippery slope. Insurance companies are already fighting to deny life insurance based on our genetics.
My advice is to not be scared of information. Use it to your advantage.
The more knowledge you have, the more informed your decision-making will be.
It’s also important to tell your immediate and extended family about your results. You don’t need to do this straight away, because you have enough on your plate dealing with breast cancer.
Don’t pressure pressure your relatives to get tested. Ultimately it’s their life and it’s up to them to decide to get tested. The only thing you can do at this point is inform them.
Unfortunately not all countries have genetic testing available.
Indonesia where most of my relatives live for example, don’t have access to such services. Some countries charge thousands of dollars out of pocket to get it done which some people can’t afford.
An alternative option for testing the two breast cancer genes, BRCA-1 & BRCA-2 mutations is through a the Color Kit Gene Testing Kit that you can order on Amazon for ~US$250. However, it’s important to note that other less common breast cancer genes (other than BRCA-1/2) exist, which this kit doesn’t screen for.
So you may be asking,
What’s the advantage of knowing our genetics?
Wouldn’t it just cause undue worry and anxiety knowing about our genetics? We can’t change our genetics anyway.
Well, I do worry about passing on this gene to my future kids (I didn’t have any kids when I found out). However, I believe the benefits of knowing our genetic status far outweighs the negative.
Everything is all about perspective.
It’s what you do with the information that’s important.
Here are some of the positive things I’ve learnt from having the BRCA-1 mutation.
The Positives About Having a BRCA-1 Mutation.
Did you know that studies have shown that breast cancer survivors with BRCA-1 mutation have a more favourable prognosis?
Yes it’s true!
In a 2019 study, it was also shown that breast cancer patients with the BRCA-1 mutation had a higher number of immune cells called tumour infiltrating lymphocytes (TILs). A 10% higher levels of TILs correlated to a 10% decrease in disease progression.
Most BRCA-1 carriers that do develop breast cancer are usually in the form of triple negative breast cancer. Since there’s limited treatment for triple negative breast cancer, one advantage for those diagnosed with TNBC AND BRCA-1 carriers is that there are more treatment options.
Specific Treatment for BRCA-1/2 carriers with Breast Cancers
In one study it was found that carboplatin (a platinum based chemotherapy) was superior to docetaxel in treating triple negative breast cancer patients who also had BRCA1/2 mutations.
As a result many oncologists opt to add carboplatin to the standard chemo regimen if their breast cancer patients are positive for the BRCA mutation.
There is also another therapeutic agent called poly-ADP ribose inhibitors or PARP-inhibitors that are specifically for patients who have the BRCA mutation. A number of PARP-inhibitors have been developed and their efficacy were evaluated in a number of trials involving late stage breast cancers - BRAVO, EMBRACA & OlympiAD trials.
As you know, having to deal with breast cancer is already a harrowing experience.
You feel like you have enough on your plate already.
But I found it very empowering that
as a patient, I strongly advocated for myself and I was finally heard by my doctors
as a patient, I could make an informed decision about my surgical procedure.
It’s often difficult to know if we are making an informed decision, because we rely on our doctors to tell us everything. Most of the time they will, but doctor’s aren’t fallible so there could be times where we just don’t know what we don’t know.
And the only way to remedy that is to educate ourselves and to dig deeper when our intuition tells us to.