Being Diagnosed with the BRCA1 Gene Mutation
Katharine and Skye had never met each other but they shared something in common. Both women carry the BRCA 1 gene mutation. This is an inherited gene which increases their chances of developing breast cancer by 70% and ovarian cancer by 40%.
Until now life changing invasive surgery and regular breast screening have been the only options available for women like Katharine and Skye. However, the BRCA-P clinical trial aims to open up a new prevention option for women with this gene mutation.
BRCA-P is a prevention trial which is testing the effectiveness of a drug called denosumab in preventing breast cancer in women who have a BRCA1 gene mutation. We met with Katharine and Skye to find out how their participation is going and how they found out about this gene mutation.
“My name is Katharine. I was diagnosed with the BRCA1 gene mutation at the start of 2020 when I was 41.”
“My name’s Skye. I found out I carried the BRCA1 gene mutation when I was 25 years old. So yeah, it’s been quite a while.”
“I got tested because a distant family member had been tested for the BRCA gene, and it’s said at the bottom of the form that family members should possibly get tested. So I went ahead and spoke to staff at the Peter MacCallum Cancer Centre and they went ahead and did the test and I came out positive for the gene mutation,” Katharine said.
“I originally got tested for the BRCA mutation after my Auntie was diagnosed with breast cancer. She was 47. And then when my cousin turned 30 and she was diagnosed with breast cancer in 2013. So, all of my family started getting tested at that point which included myself and in 2015 I found out I carried the gene mutation,” Skye said.
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Katharine and Skye had never met each other, but they shared something in common. Both women carry the BRCA-1 gene mutation. This is an inherited gene which increases their chance of developing breast cancer by 70% and ovarian cancer by 40% throughout their lifetime. We met with Katharine and Skye to find out how their participation is going on the BRCA-P clinical trial, and how they found out about this gene mutation.
Initial Thoughts Following Their BRCA1 Diagnosis
“My initial reaction was I was perfectly fine because I basically thought I would have that because my father had died of cancer not long ago. It was probably an hour later that the shock probably hit and then I went ‘now I’ve got to think about what I need to do with my life now I’ve got this because there’s going to be surgeries and drugs, you know I’ve got to look after myself and make sure I don’t get cancer’,” Katharine said
“But I’ve been pretty calm about it all I think because knowing that I’ve got the gene mutation, I’ve been very proactive in doing testing. I make sure I’m doing my screenings every year just to keep on top of it so that you can catch it in time, or get surgeries when I need to get surgeries, and yeah I’ve been pretty relaxed really.”
“I think when I first found out that I carried the gene it was quite a shock but when we were initially in the appointment, I was cool, calm and collected and then as soon as that appointment finished, I just burst into tears,” Skye said.
“I think it was a good year or two until it just started to become more of just normal life, and think, ‘this is just you’re testing week, you’re just going to get your test this week, and you’re going to get your MRIs’. And then the rest of my life just went back to some sort of normality. But I still do get quite anxious and even like a little bit depressed the week leading up to my tests and I guess the week leading up to the results.”
“So, it still does have a little bit of an effect. But for the most part now just normal day to day life, but not overly fun initially finding out.”
The Benefits Of Participating In A Clinical Trial
There are many benefits to participating in a clinical trial, such as the potential to access a new treatment and helping to further research into breast cancer. Another lesser-known benefit is that those who participate in a clinical trial often get more time with their treatment team.
“I heard about the BRCA-P clinical trial through my breast surgeon, she was actually giving me a few options of trials and another drug and this was all happening during lockdowns in Melbourne. So we were doing a lot of telehealth appointments and things like that and then she just mentioned this one and she thought this would suit me a lot better because I was a bit worried about surgery,” Katharine said.
“This is a five-year trial, and I don’t have a lot of breast cancer in my family so I’m not hugely concerned as such. So I thought I could at least give myself five years rather than do direct surgery and have everything removed. So I just heard through the Peter MacCallum Cancer Institute through a breast surgeon and she’s the first one who got me onto it.”
“Yeah, so I heard about the clinical trial from my surgeon. We were just at one of our appointments, but it was only maybe two years ago that I first heard about the trial. I’m 32 now so it’s been quite a while of not having any other information in terms of options,” Skye said.
“There was only mastectomy and hysterectomy as options, I didn’t think there was any other path to go down. So to learn that there was a potential path that means that you may not have to go through these really invasive surgeries, it was really great to hear.”
“For people who are considering taking part in the BRCA-P trial I think it’s not that much out of your day to do it. You’d be doing it for yourself and you’re also doing it for future generations. And anything really that helps prevent people having to go through surgery, it’s really a benefit for everybody because no one wants to go through it if they can help it.”
Participating in the BRCA-P Clinical Trial
Until now, life-changing invasive surgery and regular breast screening have been the only options available for women like Katharine and Skye.
“I decided to participate with the BRCA-P trial just because I’m very cautious about having surgeries and I’m scared of hospitals at the best of times. But researching the surgeries, well especially the DIEP Flap, which my surgeon had recommended, it really scares you. The photos are online of the aftermath and just the scarring. I was a bit scared of doing that,” Katharine said.
“So, when this became an option, I definitely thought yes I’ll do a trial. It’s only an injection in your stomach once every six months, and you get a bone density scan, you get your MRIs and all of your scans done, so everyone’s looking after you.”
“I think I decided to participate in the BRCA-P trial because why not? There really wasn’t any risk factors that were worrying in the trial, and there is just a plethora of potential benefits. I personally won’t really find out if I had any benefit of the trial because we won’t get that information for a long time, so I will still go down the route of mastectomy and everything else,” Skye said.
“But it’s nice to know that future generations may only need to deal with a simple injection every couple of months.”
“If anyone was thinking about participating in the trial, it can only give benefit. Prevention is key really, so if you can get checked up every time you go for your blood, you go for your scans, you get a bone density test it sounds like a lot, but it’s a lot for your own health to make sure that you are safe and well, and if something does come up, it’s going to get picked up very quickly.”
Family Support & Being Proactive
“My family were perfectly fine. I think it sort of pushed everybody to be proactive themselves and get the tests done, so my Aunts and Uncles all started getting themselves tested so then they can work out whether their children then needed to get tested,” Katharine said.
“My cousins have all gone out and got themselves tested as well, and some of them are positive, some of them negative. So yeah I think it’s been pretty good within our family that we’ve just got the knowledge. We’ve just gone ahead and make sure we’re getting everyone’s tests and everyone’s looking after themselves and being proactive about it.”
“So, when I found out I had the gene, my family was really supportive. I don’t live with my biological family so, they didn’t have to go and get testing done. They didn’t have to worry about the same thing, so, it was nice to have that support from them but at the same time, I guess I didn’t really have anyone in my family that understood what I was going through either. So that part was a little bit hard, but overall they were just very supportive and just wanted to see what I needed,” Skye said.
“I think it is super important to promote any sort of breast cancer research. I think most people can say that they’ve either been affected by or know somebody who has been affected by cancer, whether it be breast or another type of cancer.”
Skye & Katharine’s Hope For The Future
Skye & Katharine participated in a clinical trial for themselves and for the greater good of all breast cancer patients.
“I think it’s important to help out with clinical trials by donations and by taking part in clinical trials, because if we don’t get this knowledge on different ways of treating or different ways of preventing certain diseases, we will be just stuck in just doing surgeries,” Katharine said.
“This is going to help so many people if it just comes down to a simple drug. So by donating it’s going to help them pull their resources out even further and get more things out there, and options for people rather than just going straight into surgery.”
“So, any sort of research into cancer is just phenomenal, but to do that research, you need donations. So everyone, we need people to donate to this sort of research and we need people to promote it, so then people know that there are options out there and you can do things like a clinical trial to not only help yourself, but potentially help future generations,” Skye said.