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Patient story: Familial BRCA1 testing
We meet Debbie and her daughter Emma to hear how Debbie’s BRCA1 diagnosis has affected the whole family.
My experience of cancer started when I was 10 with my mum being poorly. When my mum died, we were told that she’d died of breast cancer. When I was 32, I found a lump under my left collarbone that felt like a piece of coal. So I went to the hospital, and they were very, it’s not breast cancer. It’s just a lump. It’s cosmetic. Don’t worry about it. The surgeon eventually agreed to remove the lump because of cosmetic reasons. They came to me the following day and said, we’re going to have to do a wider extraction because it looks like it is cancer. I had the mastectomy a week later.
And they came back to me, and the surgeon said you’d got two types of cancer. And you will have to have chemotherapy. My world collapsed. My world absolutely collapsed. I’d got a 5-year-old, I’d got a 10-year-old, and a 12-year-old just going into secondary school. The surgeon advised that I saw the gene testing team. They wanted to look for the BRCA1 gene variant because of the cancers within the family. So they took a sample of blood, and they told me that I had got the BRCA1 variant gene. I immediately said, can I have another mastectomy? And they said, you don’t need it because we’re going to follow you for the next five years. You’re going to have a mammograms.
And if anything goes wrong, we’ll be in there. We’ll sort it. I remember it like it was yesterday sitting down with Emma and saying, OK, can you remember when I had cancer, and it was breast cancer. And can you remember what I said that it was the BRCA gene variant. And this can be passed on down the family. Emma was angry. Emma was very upset and very frightened. I probably did the silent push. Yeah. Every so often mention it, but it didn’t really rear its head with the boys at all. But it reared its head when I was poorly again. For nearly a year, I struggled with severe stomach ache and backache. It was just after my 50th birthday.
Emma had arranged an amazing party for me, for my 50th. And I pushed my food around because I just couldn’t eat, couldn’t swallow. Emma and my auntie made me go to the GP, and I saw a locum, who straightaway took me into the hospital because he read that I’d got the BRCA gene. And I went on my own. I didn’t tell anybody that I got to go for a scan. The consultant did a scan. He told me to go and wait in a waiting room. And the doctor walked in with a nurse sat down and said, Deborah, you’ve got stage four ovarian cancer. I had the surgery. And the surgeon came to give me the results– you will need chemotherapy.
I asked the surgeon if this was anything to do with the BRCA1 gene variant, and he said absolutely. This is what it does. So I went through the journey of having the chemotherapy. And my kids were amazing. They took it in turns to take me for the chemotherapy. Unfortunately, I had breast cancer again. And I was very lucky that I had a scan every six months. And through COVID, I had a scan, and they found another breast cancer. At this time, I was absolutely mortified because I had, after the ovarian cancer, gone on about having another mastectomy. And I was told it wasn’t necessary because I’d had chemotherapy and that would protect me.
And I ended up having to tell my children again that I had got a third cancer. And it wasn’t a metastasized cancer, it was another breast cancer caused by the BRCA1 gene variant. My mum first got diagnosed when I was at school. I think I was year five, so probably about 10 years old. But it wasn’t until I was a bit older that I actually understood really what cancer was and what the consequences were. And then when I was around 16, I think it was, when we started to talk about the BRCA1 gene variant and the fact that my mum had it. And it’s 50/50 chance if she can pass it onto to each of her children.
So she very much wanted me to get the testing to see– I guess, to see what that meant for me and my future. At that time, at 16, I don’t think I could test then, so it was more to so that I understood it, and I could start thinking about it. It was when I was in my early 20s, I was at university, and I started the process. I went to hospital. I had the appointment. And I had the counselling session that they make you have beforehand, and I can’t tell you how grateful I am for that because it made me realise I didn’t want to know at that point. I wasn’t ready. I wasn’t ready emotionally.
I wasn’t ready mentally to find out, so I paused it. My mum was then diagnosed with ovarian cancer in my mid-twenties, so it kind of brought it all back up again. Really, really horrible emotional scary time. And also, because my mum had breast cancer first when she was 32 and so did her mum, that was kind of the deadline I’d put on myself, was I need to do it before– before 30, really, so that I could– before I got cancer, essentially. Went through the process again, had the counselling, I did feel completely knowledgeable and supported in terms of what choices I had to make.
If I did get a positive result for the BRCA1 gene variant, I could have my breasts removed, I could have my ovaries removed, or I could not go down the preventative surgery route. I was absolutely convinced that I would have the BRCA1 gene variant because I’ve inherited almost everything from my mum. Good bits and bad bits, we’re all the same person. So I was convinced, and I’d almost mentally prepared for it. I was going to have the double mastectomy. I had planned to buy new boobs. I’d pick them off the shelf. [LAUGHS] I’d almost come to terms with it. And then got told that I did not have the BRCA1 gene variant. I just burst into tears.
I was like uncontrollably emotional. Me and my brothers have had a very different response to what’s happened. When I found out, originally, I can’t deal with things unless I deal with them head on and I want to know everything about it, and I think the boys are a bit more head in the sand. I could see the worry, and the stress, and the fear of whatever this gene is, what it does to– not just your body– but what it does to the emotions of your family and how it feels like a black shadow around your throat that you’ve got absolutely no control of.
Neither of the boys have been tested– Daniel because of fear, Joe– he’s got a busy life, and he’s got a new baby on the way, so that makes me even more passionate about him being tested. And me and Emma will keep on at them. It empowered me to make the decision to donate my eggs, so I am helping another family have a family. The things that it’s enabled me to do and how privileged I feel for being healthy has changed my life.
In this step, we meet Debbie and her daughter Emma to hear how Debbie’s BRCA1 diagnosis has affected the whole family, and how Emma and her brothers have reacted differently to the information.
Listening to Debbie’s story of her journey through diagnosis and treatment, it’s clear that her experience has been a challenging one. Thankfully, Emma’s experience follows current clinical practices and has led to a more positive outcome for her as an individual. It’s important to bear in mind that these differences between Debbie and Emma’s experiences reflect just how far our understanding of genomics and genomic medicine has come in recent years.
We want to thank Debbie and Emma for talking to us so candidly about their story, and about what the diagnosis meant for them.
Next, we’ll be learning about the various reproductive options available to individuals in families with an inherited condition.
This article is from the online course:
Genomics in the NHS: A Clinician's Guide to Genomic Testing for Rare Disease
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This article is from the free online
Genomics in the NHS: A Clinician's Guide to Genomic Testing for Rare Disease
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