In 2013, Angelina Jolie had her BRCA1 and BRCA2 genes tested. The Hollywood actress had her breasts, ovaries and fallopian tubes removed due to the high risk of cancer in her case.
It’s taken me a while to share this. It wasn’t an easy time to endure and, before publishing, I wanted to make sure that I’d included as much info as possible in this piece. But I’m ready now, because it’s something you need to be aware of and, if you’ve considered having the screening done, I hope you can find all you need to know here.
BRCA1 and BRCA2 are the BReast CAncer genes and are the best-known genes linked to breast cancer risk in men and women. These genes produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of each cell‘s genetic material. So if these genes are mutated, cells are more likely to develop additional genetic alterations that lead to cancer.
On average, women have a 2% chance of getting ovarian cancer in their lifetime.
This goes up to between 4% and 54% with the BRCA mutations.
Women have a 12.5% risk of getting breast cancer in their lifetime.
This goes up to between 31% and 78% with BRCA mutations.
Please note that even if the genes are mutated, it doesn’t necessarily mean that you will get breast cancer, it just means the odds are higher.
Similarly, if the gene is found not to be mutated, you’re not out of the woods and could still be diagnosed with breast cancer.
I avoided having the test done for about four years. There were two big reasons for this.
- When I was initially in talks to have the screening done, the cost was exorbitant. Not just that, I would have had to travel to Stellenbosch to have it done in person. Many would come at me with the “You can’t put a price on your health” argument and I agree. But the truth was that I simply did not have the money at the time and medical aid doesn’t help out at all here.
- Mentally, I was in no way prepared to know that my chances of getting cancer were possibly higher. Having dealt with cancer multiple times with people close to me, I’ve seen how much power the mind can hold over physical well-being. Yes, I’m a full believer in science, but I had this feeling that if someone told me I would get cancer, damn straight I’d get cancer. I don’t know how else to explain it. I simply wasn’t ready to hear the truth. I know it wasn’t the smartest approach, but I was scared (don’t tell anyone.)
There were a handful of times when I emailed the genetics centre to obtain the documentation. They’d send it. I’d let it sit in my inbox.
My gynaecologist would get a bit pissed at me (and rightfully so) because this was available and I wasn’t taking advantage of it, but something in my mind had to change.
That change came in January 2019.
I woke up one morning and just decided to face reality (a 2019 narrative, really).
We have this beautiful science available to us and my results would assist with future research. It would really be irresponsible and selfish of me not to go ahead – for the sake of my health and for the sake of science.
Whenever tough decisions come my way, I do one thing that has always served me well – I think of the absolute worst case scenario.
In this instance, the ABSOLUTE worst thing that could happen was that I find out the gene is mutated and go in for a double mastectomy with reconstruction. I mean, the ABSOLUTE worst thing that could happen is that I come outta this with a better rack? Not too bad…
On 8 January, I contacted Gknowmix again to let them know that I’d like to proceed.
I’d like to take you through the process in a few steps:
In order for them to gauge whether you’re a desirable candidate for testing, they require a fair amount of information regarding your and your family’s medical history. This isn’t a screening that just anyone can undergo. You have to qualify within certain family history parameters as well as race and roots.
The following can be used as general guidelines for genetic testing, preferably following pre-test counseling by a registered genetic counselor to explain both the benefits and limitations of the test:
Familial risk: 4 close relatives diagnosed younger than 60 years; 3 close relatives diagnosed younger than 50 years; 2 close relatives diagnosed younger than 60 years and ovarian cancer in the family; male breast cancer and any family history of breast cancer.
Ethnic risk: Founder populations such as patients of Ashkenazi Jewish or Afrikaner ancestry with a family history of breast cancer.
Personal risk: Bilateral breast cancer at a relatively young age; ovarian cancer diagnosed younger than 30 years.
I filled this out and sent it through. In order to do this, I had to contact a few family members and chat about cancer in our family – never a jol. Not gonna lie, it felt pretty real at this point.
2. Send Your Sample
After reviewing the documents, they let you know that you have been approved for testing and courier a kit to you. Before, the screening used to require bloodwork but now they just need your saliva.
On 11 January – one of the hottest days of the year, I avoided eating and drinking for an hour before spitting into a vial. It, uh, took a while. I sat in STIR’s boardroom and tried to salivate. I thought about Tara’s food and Taylor Swift to help me along.
Two days later, my sample was collected by a courier and sent off to the lab.
3. Genetic Counselling
This sounds a lot more serious than it is. The counseling takes place so someone can talk you through every tiny detail – in case you were thinking of Googling it and basically being dead already.
Because I was in Durban at the time, my session took place telephonically on 24 January. If you’re in Jo’burg, Cape Town or Pretoria, it’s advisable to have the session in person.
My counselor was so lovely and explained the science, the testing and next steps simply and succinctly. We were on the phone together for about forty minutes. Prior to the session, they do send you a lot of info pertaining to the genes and the test, so I was already familiar with some of the info she was providing. But it was comforting to talk to someone who was factual and to the point (FYI – I don’t respond well to being babied so her factual approach was very welcome.)
On 21 January, my DNA was extracted from the saliva sample. Your sample sits at the lab for about four weeks. And ya, those four weeks feel fuuuuuucking long. Another strategy that’s served me well in my life is just letting shit go, so I pushed it to the back of mind and got on with work (work’s been busy AF this year, so I couldn’t allow anything to cloud my productivity.)
But every so often, I’d remember what was happening and it would jolt me. I’d be in the middle of a digital strategy or at the gym, and I’d have to take a few moments to remind myself that I was doing the right thing and that the worst case scenario (better rack) really wasn’t that bad.
Four weeks went by and I hadn’t heard anything, so I contacted them. They assured me that the second they received results, they’d let me know. Duh, Kirsty! Relax, please. They’re not just gonna let your spit sit there.
At 12:02 on 20 February, I received an email from my counselor letting me know that she had my results and wanted to talk me through them. You know when your brain explodes and jumps to 613 conclusions at once? Yup.
I mailed back immediately to let her know I was available at any time until 16:00 because I had to catch a flight. She said she’d do her best as she also had quite a full afternoon ahead.
At 14:38, I had just walked away from the check-in counter when my phone rang. I’d been a little distracted with meetings that day, so I’d forgotten that my counselor could be calling. I recognised her voice immediately and I felt like the only person on earth amidst rush hour at O.R. Tambo.
There is no mutation.
En route to security, those four words made me drop to the floor in the middle of the airport. I don’t know what people must have thought nor did I care. That feeling of relief was more than my body knew what to do with.
I know I’m not out of the woods and that there will always be a risk, but to know that one of these risks is canceled reassures me greatly.
For a genetics testing centre like Gknowmix, a negative result is more of a hindrance when it comes to research as it doesn’t bring them much closer to exploring the ins and outs of genes and cancer.
So, I have the choice to undergo further testing. For now, I’ve opted out of this for two reasons:
- There is an additional cost.
- Again, mentally, I’m just not ready.
I want more than anything to help and further research and science, so I’ll go ahead one day. When I’m ready.
I hope this blog has been helpful. If you’ve undergone this screening, please let me know – I would love to hear about your experiences.