76: Genetic Mutations: Alex Isaac's Inspiring Story of Prevention and Resilience

Welcome to Dear Menopause podcast, where we discuss the menopause transition to help make everyday life a little easier for women. Hi, this is Sonya and I am the host Dear Menopause Today. I'm joined by Alex Isaac. Alex is very generously and bravely sharing her story with us about being a carrier of the BRCA genetic mutation. This is a story around breast cancer history, family history, preventative surgeries and surgical menopause. This is a heads up. I am splitting this story across two episodes. This is the first part. Enjoy hearing Alex's story. Alex, welcome Dear Menopause. Thanks, sonya. It is so wonderful to have you here. Why don't you introduce yourself? Tell everybody a little bit about who you are?

Okay, so my name is Alex, I'm 39 years of age and I live on the northern beaches of Sydney with my husband and my two kids.

And you're only 39 for a few more days, aren't you?

Yes, thanks, Sonja. Thanks for rubbing in.

So I'm laughing because you just said to me I'm going to introduce myself as being 39, because that might be my last chance. Oh my God. Now I'm having a giggle, because we do have a really serious topic to talk about. I wanted to also keep our conversation light and a bit of fun as well. So, alex, we're here to talk about your family history. The BRCA gene that you now know is something that has been carried down through generations of your family. Are you happy to start off by just giving everybody that's listening, that's perhaps maybe heard about the BRCA gene, because I think it would be surprising to come across anyone today that hasn't A little bit of a rundown on what it is and what it means to be somebody that carries the BRCA gene.

Sure. So I personally carry the BRCA1 gene mutation, so there's a few different mutations that someone might carry that would increase their risk of breast and ovarian cancer. This one, I mean. They're all nasty in various ways, but this one increases your risk of breast cancer by up to 75% and increases your risk of ovarian cancer by up to 60%. There's now also actually other types of cancer associated with the BRCA1 gene mutation. The list is getting a little exhaustive, but can increase your risk of melanoma and pancreatic cancer, and, for men, it can increase your risk of prostate cancer, and also, men that carry the mutation can have an increase of risk of breast cancer as well. So there's a few other little ones that have been thrown in there over the years, as they've done some more research as well. So, yeah, so that's the mutation that my family carry, and we discovered this mutation in 2013, when my sister was diagnosed with breast cancer at the age of 33.

That was the first time that you guys obviously were aware that this genetic mutation was in your family thread. Now, your mum had a breast cancer history as well, didn't she?

Actually it was my grandmother that had a breast cancer history. She but, and so we were aware that my grandmother had had breast cancer. But, as you well know, breast cancer is unfortunately quite common. So you don't necessarily jump to conclusions and assume that it might be due to a genetic mutation. But my mum and my auntie had increased their screening over the years and had approached a doctor, their GP, and mentioned that their mother had had two breast cancer diagnoses in her life actually. So again, statistically speaking, that increases your odds yet again of carrying a mutation if you have two breast cancer diagnoses that are more than 10 years apart. So it certainly did seem like there could be something, but we weren't recommended for genetic testing at that stage, even though my mother had asked. But so our first knowledge of the mutation was after my sister got her diagnosis at 33. They recommended that we pursue genetic testing due to my sister's ripe age. So the Hereditary Cancer Clinic at Sydney Prince of Wales Hospital put us all through the genetic testing and it came back that, yes, it was in fact from my mum's side and mum therefore was also a mutation carrier. So they were quite perplexed that mum was 54 at that stage and hadn't had breast cancer, and that my sister was 33 and was diagnosed with triple negative, a very aggressive stage 3 form of breast cancer. So we all carried on and did the genetic testing. As it turns out, I have an older sister obviously Sarah 33, and I have a younger brother, and all three of us inherited the gene mutation from my mum. So it wasn't actually until actually only six weeks until from that diagnosis that we had started our preventative surgery journey, and mum during her preventative mastectomy, they tested the pathology after her surgery and discovered that she had breast cancer at the time of her preventative mastectomy. They discovered this through the preventative surgery. So very lucky in so many ways you could say that my sister's breast cancer diagnosis saved my mum really, because we wouldn't have discovered her breast cancer diagnosis until much later. She had only actually had a mammogram three months before this preventative surgery and there was nothing. They went back and had a look at the imagery from the mammogram and it was clear so that it was DCIS, which means it was contained within the ducts. Yeah, it grew very quickly, as is the nature of breast cancer when you have a gene mutation, it's typically quite aggressive and very rapidly grows and spreads, so very lucky.

Talk me through Sarah's diagnosis.

Mm. Hmm. So yes, sarah felt her lump herself, took herself off to the GP. They then progressed to having an MRI and then they suggested that she have a call biopsy and that returned a positive result for her breast cancer, which was stage three, very aggressive, triple negative. So she then was advised by her amazing, excellent, phenomenal breast surgeon in Sydney to have the surgery a lumpectomy in fact, asap. So I think it was a few days before she had her lumpectomy, and then she started 16 rounds of chemo within six months. So she started with the AC chemo. She's, as I'm sure you know, sonia, that it's a very nasty type of chemo, very full on.

The Red Devil.

Yeah, awful. And so Sarah had a two year old boy. Has it? Well, she still has him.

He's not two anymore, he's not two anymore.

So you know it was it was. It was very tough time for her and she would have loved to have had more children, but sadly for Sarah it wasn't to be. You know, she had to rush through her breast cancer treatment and that was that. Her fate was sealed. So it was all hands on deck. You know we all tried to help out as much as we could with her little boy while she went through this horrific six month treatment. Never seen anything like it, I think, and in fact witnessing Sarah going through that really helped make my decisions about what I would do with my health.

Staying on Sarah just for a moment. So she was 33. She had the AC chemo, which is horrendous. So obviously, from a menopause perspective, chemo would have thrown her into a medically induced menopause at that point.

My understanding is that it definitely affected her egg reserve. I think, as you know, it's obviously hard to diagnose Well, it's not always certain when you're going through menopause, especially when you're going through chemo treatment. Are you feeling that way because of the chemo? Are you feeling that way because of the menopause? So my understanding is that, definitely, her egg reserve was affected. She wasn't able to have children after that point. She also then had in 2019, I want to say no 2017. I can't quite remember the year, but she did have a preventative hitstirectomy which most certainly, if she hadn't had gone through menopause through her treatment, it definitely would have thrown her into menopause and, as we know, surgical menopause hits hard and fast as well.

It does and that's the common path for genetic mutation carry a particular the BRCA1 or 2. Is that from a preventative surgery perspective? Is a mastectomy, double mastectomy? So obviously removing the breasts and the associated breast tissues to remove the risk of the breast cancer, and then it's removing the ovaries to remove the risk of the ovarian cancer. So, as you talked about at the beginning, those risks for any women that carry those genetic mutations are so very high that but removing the breasts and the ovaries and I know that now, not necessarily ovary removal is actually the first course of action now for a lot of women. We'll talk about that in a minute. But for Sarah that was what she went through. So she went through her chemo, she had the lumpectomy, she then obviously went on to have a mastectomy as well.

Correct. Yes, so she had the lumpectomy, then the chemotherapy for six months and then she had a two stage mastectomy and reconstruction. So the first stage was the mastectomy and insertion of tissue expanders and that keeps the area and the muscles Well. You actually pump out the expanders to keep the space open for when you do wish to have the reconstruction. That was necessary. That was the type of surgery that they advised that she have at the time. So then she had a delayed reconstruction a few months later, once she'd built up her strength and finished all her treatments. Sorry, I should clarify when I do say hysterectomy, in our case I do mean hysterectomy plus uferectomy, which is removal of the ovaries. Some women obviously do have hysterectomy for various different reasons and they might maintain the ovaries in that situation. But in our case we have for risk reducing measures and uferectomy, sometimes with a salpingectomy, which is removal of the fallopian tubes, and sometimes also with a hysterectomy removal of the uterus.

And so it's awesome. Thank you so much for explaining all of that, because it does get quite complicated.

It's a lot, it's a lot.

It is, and it's such a lot to wrap your head around at such a young age as well. That was Sarah's experience. So then, obviously, as you said before, six weeks after Sarah's diagnosis and you guys finding out that you are all brachicarias, you then are faced with finding out that you also carry this gene mutation and then have some decisions to make yourself around what your future looks like. So are you comfortable talking us through? That experience was like for you.

Yeah, absolutely, it was obviously. Yeah, we were quite young at the time, we were 30. My husband and I just started trying to have our little family. So, with knowledge of Sarah's breast cancer diagnosis and what that, what would lie ahead and potentially the the gene mutation that might be looming, we decided to put the brakes on that and focus on what was the health concerns that might be coming around the corner. So we didn't actually know yet about whether I would carry the mutation until the January. So we had about six weeks. Sarah's diagnosis was in October and we it was obviously difficult to get the results around Christmas. So we didn't actually find out the results until the January. But we had already had six weeks or so to do a lot of research and speak to surgeons and speak to the, the councils at the Hereditary Cancer Clinic. And basically what it boiled down to was my my sister's breast cancer surgeon proposed to me the the idea of you know, so you're interested in having a family. And how, how many children do you wish to have? And I said, oh, maybe two or three in an ideal world. I know that doesn't always happen. He said, well, your sister is 33 and you're 30. And let's propose that you have two or three children. Would you like to breastfeed? I said yes, it's always been a priority for me, I'd love to breastfeed. You said, ok, great, so now you're looking at your 30. Let's say, if you get pregnant this year, you might be 36. Let's say, by the time you finish having three children and a year's worth of breastfeeding in between each of those children. He said, and so all that, while once you're pregnant and once you're breastfeeding, breast screening is very limited due to the, the milk being, you know, blocking your vision when they're doing the screening and the imaging. And he said I really don't advise. You know you take that, that road because you're, you're, you could be 36. And right now your sister is 33 with breast cancer diagnosis. You know it doesn't add up. So on that we made the difficult decision. But you know, in some ways you might say it's an easy decision when you're watching your sister going through breast cancer. And you think I could do. I could have this preventative mastectomy and potentially avoid chemo altogether, you know. And and a breast cancer diagnosis and all all those things that go with it. Well, we decided to go down the road of having a breast mastectomy, rather, and so six weeks later I went under the knife. We had I had a mastectomy with a direct implant reconstruction. So you know it was tough. It was physically demanding. Obviously there was the financial cost, the time off work. You know the emotional cost. It's obviously little bit daunting the thought of removing healthy breast tissue. Think about all the what ifs. What if I don't get it? What if I was Never going to get breast cancer? But ultimately the risks are quite high. You know 75% of chance of getting breast cancer. So it was not a risk I was prepared to take, especially when we're thinking about you Having a family and I need to think about the bigger picture and Sticking around for these little kids that we might be bringing into the world. The provenive mastectomy happened in for me in 2014. We decided to pursue. We heard about IVF and the fact that you can use IVF to avoid passing on the mutation To embryos before we go any further down, are you happy to talk us through that process a little bit? the, the screening of the embryos yes, sure a new way to screen embryos was introduced the same year that we Looked into it, so it was in 2014. It was called carrier mapping or PGD pre-implant genetic diagnosis. And how they're able to to screen these embryos, so to speak, is that they're able to do a Biopsy on the embryos. Once the embryos are 100 cells big or a blastocyst, which is happens after about five days, they can test those embryos and Determine if they carry the mutation or not. So that's how you can use IVF to just screen embryos to avoid Passing on the mutation, because obviously then would only technically implant embryos without mutation.

So it gives you some choice.

Correct. So so, yes, so there was obviously with the IVF, though you know it's not, as so many people I know have gone down this IVF, ivf road and it's not. You know, financially again, financially, emotionally, physically, it takes a toll. It's not easy and you know it's Tight. You know it costs you time as well. You know you have to go into the IVF clinic every two days to have your bloods taken. You really have to be around for, obviously, the collections, the transfers. It's not a walk in the park. So we've got two little kitties and we're very, very lucky that the process worked. It doesn't always work and it's very difficult, challenging Time for us, but we got through it and we've come out the other side without two gorgeous kitties who are now eight and six a.

Huge toll that it's taken on not just you, I would imagine, everyone around you as well throughout the process and yeah yeah, but um, like you say, two beautiful Children at the end of the day, which is fantastic. Thank you for sharing that, because I know that that's not an easy Process to share. And then, what was your next steps following filling your nest of children?

so the next stage was addressing my risk of ovarian cancer and there's obviously the debate you know how the the risk-first benefit debate of how early is too early to remove your ovaries when you have an increased risk of ovarian cancer. You know, obviously, removing your ovaries at a very young age, well, removing your ovaries will stop, will set you into surgical menopause. So, how, you know, when does when does the the, the risk of the ovarian cancer outweigh the risk of? You know, overall mortality, life mortality of Removing your ovaries. So we I did a lot of research and I realized through my studies that a Salping jectomy, which is removing your fallopian tubes, could potentially well, that the belief was, and it still is, I believe, in 2019 that ovarian cancer Potentially starts in the fallopian tubes. So there, there's good research to suggest that. So at the time we decided that perhaps Reducing my risk of ovarian cancer, we could start by removing the fallopian tubes. So we did that in 2019 and I had the cell pingectomy then and we hoped that that would hold off, hold me off for at least A few years, until 40, when they suggested I remove my ovaries. So we did that. That was. Given the other surgeries I've had, I would say that was relatively Straightforward as far as the surgery can go. And then the next surgery I had, I discovered a lump in In I won't say my breast tissue, I would say around the implants of my reconstructed breasts. We discovered that in December 2022, so about nine months ago now, and I had a core biopsy at the time because it looked like a suspicious lump. Obviously, having had a mastectomy, finding a suspicious lump in anywhere in your chest is very concerning, you think they leave some brush tissue behind. What's happened. And at the same time I also had a girlfriend who's about the same age, also has a mutation, has also had a preventative mastectomy, who also found a lump. We were within weeks of each other and unfortunately her lump did turn out to be cancerous, which is awful, so anyway. So I was naturally nervous but luckily the results were benign. It was fine, thankfully. But in that process, through the screening for after the MRI and after the call biopsy, discovered that my implants had ruptured quite significantly and had sent the silicon around my through my lymphatic system. So I have lots of lovely lumps of silicon all through my lymph nodes which, unfortunately, you can't do much about. So they're still there. But it also meant more surgeries. So in February of 2023 this year, I had my first of two surgeries to sort out this new dilemma. My surgeon went in and removed my ruptured implants. He said it's probably the worst rupture he's ever seen, which is not great, but anyway it's done. So he removed the implants and the goal was to try and do the reconstruction in the same process so I could avoid a second surgery. But unfortunately, when he got in there he said, due to all the silicon having ruptured, that I had a lot of inflammation on my chest wall so it needed to be a two-stage process. So I had some expanders put in and then we went back for surgery again in April to finish off the reconstruction. Since then we've now approaching 40, thanks for the reminder earlier. So they do advise that you consider finishing off your preventative journey when you have a BRCA1 mutation, that you consider having your uferectomy or your hysterectomy and uferectomy before the age of 40. And so, yes, in July this year I had my hysterectomy and uferectomy and started my surgical menopause journey. So here we are.

So here we are. Wow, Alex, it's a lot. Sorry, it is a lot. Please don't be sorry, it is. You know, one of the reasons why I wanted to sit down and have this conversation with you was because I think it's so incredibly important to raise the awareness of how incredibly difficult and confronting and challenging the journey is for those that do find themselves with a genetic mutation. Sitting down and speaking with someone like yourself and really hearing and understanding the significant impact that this has, not only on your life, your health, your longevity, but that of the impact it has on your partner, your family. It's a lot, as you said. I don't want to get all morbid and melancholy about it, but I think it's so incredibly important that we do raise awareness and shine a light on these conversations, because you just never know who you might come across in the workplace or who you might come across in your friendship group that may be going through this themselves, and when we can have some empathy towards every aspect of what they might be going through and just make it that little bit easier for them sometimes.

Yeah, good point.

Yeah, so thank you for sharing so much. Now we are going to continue our conversation, because the next aspect that I really want to dive into talking to you about is the surgically induced menopause. So, obviously, I've talked a lot on the podcast about medically induced menopause, but it's very, very different to surgically induced menopause and it's again very, very different to a natural menopause. Ok, guys, as I alluded to at the start of this episode, I am splitting this story into two parts. So this is where we are calling it a day on part one of Alex's story. You can tune in next week to hear Alex talk us through her experience around surgical menopause, and we also touch on her sister, sarah's experience, which was quite different around her surgical menopause as she experienced it at a different age and at a different stage. I hope you've enjoyed Alex's story so far and please join us next week for part two of Alex's story. Thank you for listening today. I am so grateful to have these conversations with incredible women and experts, and I'm grateful that you chose to hit play on this episode of Dear Menopause. If you have a minute of time today, please leave a rating or a review. I would love to hear from you because you are my biggest driver for doing this work. If this chat went way too fast for you and you want more, head over to stellarwomencomau slash podcast for the show notes. And, while you're there, take my midlife quiz to see why it feels like midlife is messing with your head.