Living with the BRCA1 gene: ‘I broke down when my sister got her results but I didn’t cry getting mine’
The possibility that the BRCA gene mutation, a genetically inherited condition that increases a person’s risk of developing cancer, was in their family had long been a conversation among Krista Costello and her relatives.
My grandmother passed away when she was only 51; she had had a long battle with ovarian cancer,” Krista explains.
“The year after her only sister died of breast cancer, she was only 43. When we heard about BRCA in the late 90s, we discussed it.” But they dismissed it, as no one else in the family had died of cancer.
Krista’s mother Linda was the eldest female of the next generation and had always been very healthy. But in June 2019, a trip to Accident and Emergency after bowel issues revealed she had advanced ovarian cancer.
She pushed to be tested for the BRCA gene mutation and received a positive diagnosis. Linda passed away in October 2020, and Krista was tested for BRCA in December of that year. She received her results early the next year, the day after her 41st birthday, in February 2021.
Krista has the BRCA1 gene mutation.
“I just knew, before she got her results, that not only did she have it, I had it,” she says now of her own and her mother’s diagnoses. “It wasn’t a shock.” Her younger sister, who lives in Jersey, was diagnosed a month before Krista, and it was then, rather than with her own diagnosis, that the emotion hit.
“I broke down, I was absolutely devastated for her; I cried for about two days. But I didn’t cry when I got my own.”
According to the HSE, a woman with a BRCA1 gene mutation has a lifetime risk (to 80 years) of breast cancer of up to 90pc and a lifetime risk of ovarian cancer of up to 60pc. A woman with a BRCA2 mutation has a lifetime risk of breast cancer of up to 85pc and a lifetime risk of ovarian cancer of up to 30pc. There are other cancers that may arise in individuals with variants (mutations) in these genes but the lifetime risk of developing these is much lower.
When Krista found out she carried the BRCA1 gene mutation she went straight into planning mode. “I’d done my research; I was just waiting to get these results so I could move on. Waiting to get them was the hardest part, nearly 12 weeks. It was driving me insane; I couldn’t sleep. When I was told, it was like, ‘OK, let’s get moving now’.”
As it happened, she already had an appointment with her mother’s oncology gynaecologist booked for later that month. “I had symptoms which turned out to be the menopause. My period had stopped for six months, I was having pains. I thought it was stress because of my mam’s cancer.” One day in hospital with her mother, she had got talking to the consultant, who told her to make an appointment. “It just so happened that my appointment happened a week after I got my results.”
Now, she was booked for a hysterectomy, something Krista was certain she wanted to undergo.
“It was definitely happening; I had just started the menopause, I’ve got three kids, my eldest is 23, youngest is seven. That was a really easy one for me. Get it out.” The hysterectomy went ahead shortly afterwards, on March 9, 2021.
“Looking back, I don’t think I asked enough questions,” she says now of the aftermath of the operation, and her own lack of awareness of the possible outcomes she would experience. “No one mentioned HRT to me.”
Within days of the hysterectomy Krista began experiencing extreme symptoms of menopause.
“I was constantly taking headache tablets, and nothing was working. The hot flashes were ridiculous, and they came on immediately. It really hit me like a ton of bricks.” She began to wonder if she had early-onset Alzheimer’s or dementia. “I’d be standing at the top of the stairs thinking, ‘why did I come up here?’ I wasn’t able to get full sentences out; I was losing words. All I can liken my mood to was, you know when you’re a teenager — I’ve had two teenagers grow up in my house — just intense rage over nothing. I’ll have that biscuit, and the biscuit is gone, you can feel the rage in your body and it makes no sense.”
Looking back, she feels she was unprepared for the physical changes the surgery would result in.
“I came out of hospital after the surgery, and my vagina, it was like it had disappeared. It was like I had bone, with skin over it, as if the flesh had gone. I felt, ‘why did nobody tell me any of this would happen?’ I can’t be the only person in the world that this has happened to.”
She recalls with a laugh the advice she was given. Not to have sex for six weeks. “You don’t have to tell me. I’m not having sex for six months,” Krista smiles.
She was also given a list of household chores she was and wasn’t allowed to do. Only light housework, dusting, making herself a small meal, were allowed.
“I wasn’t allowed unpack the dishwasher, hoover, put a heavy load in the washing machine. I thought, ‘I’m after having an operation, I’m going to be milking this, I’m never doing the hoovering again’.”
Krista works from home, home-schooling her daughter Daisy age seven, who has autism. “I’m autistic as well; I didn’t find out until after I had her.” Krista also has an autoimmune disease, Sjogren’s syndrome, the symptoms of which include joint pain, dry eyes and mouth, and it got noticeably worse after her operation.
She describes the impact on her mental well-being of the avalanche of new symptoms in the aftermath of her hysterectomy.
“I had two modes of mood. It was completely rage or crying,” explains Krista, who is a noticeably upbeat person in conversation. “I was doing a lot of bed rest any way, I was exhausted. But I kind of just stayed in my room and tried to stay away from my family. I just didn’t want myself to explode all over them. It was absolutely horrific.”
“I thought, it’s downhill from here, I’m going to end up in a home, not knowing who I am. That was how intense it felt. It was only three weeks, but it was enough. I thought, ‘what is after happening?’ It felt like I had come out of that operation and I was 102.”
There was some confusion as to whether she could take HRT as someone who has the BRCA gene mutation. This was finally cleared up when Krista contacted The Menopause Hub, an organisation she came across on Instagram, and spoke to a specialist they put her in contact with who, along with the Family Risk Clinic nurse in hospital, confirmed she could take HRT. Krista takes the patch rather than tablets and continues on the HRT treatment, although recent shortages of the medication have caused anxiety.
Her symptoms began to disappear almost instantly on beginning a course of HRT.
“Within the hour, my headache had stopped. I was having several hot flushes a day; within two weeks they were completely gone. I had had vaginal atrophy from several months before the hysterectomy, it got much worse after the operation. I was so dry and so itchy; it was like I had a hundred little paper cuts. That was going on for months.” The Menopause Hub suggested a topical oestrogen cream which solved the matter.
Krista underwent a double mastectomy in September 2021. Because her own breasts were G cup, she was not a candidate for a DIEP Flap breast reconstruction (using flesh from the abdomen), this would mean she would have to undergo a more complicated implant surgery. She was also concerned that her autoimmune disease left her at a higher risk for breast implant illness. As such, she had decided against reconstructive surgery of any kind, preferring to remain “flat”.
“I didn’t want to take the chance. I just thought, ‘I’m going to have the simplest surgery, with the easiest recovery’.”
She was also keen to spend as little time as possible in hospital. “It’s a nightmare for me sensory wise. I never sleep. I was waiting to go on an immunosuppressant for my autoimmune disease, but I couldn’t do that until I was finished the surgeries.” By this point she had spent several years “living in” hospital, she adds, between accompanying her mother to her appointments and her own. “I felt, I am sick of cancer, sick of BRCA, sick of hospital. I want to get this all over and done with,” Krista laughs.
She was met with some resistance however, both from friends and family, and among medical professionals, about not having reconstructive surgery.
“I had never said anything other than I am going flat; I am 100pc sure of doing this. And yet at every single appointment somebody asks me if I want a reconstruction. There was a lot of shock from everyone. Doctors kept saying, ‘you’re so young’. Yeah and?”
At one point, Krista recounts with a laugh, a friend asked her what her husband thought. “I said this to my husband, he nearly wet himself laughing. Do they think I’m going to make my decision based on what somebody else thinks?” She’s often asked if she regrets it. “I can have reconstruction surgery after I’ve gone flat.”
She had a mastectomy on September 15, 2021. Now, post-op, nobody notices, she adds. “I got more stares when I had the big boobs to be honest. I’m comfortable enough to go flat. People only notice big boobs, or if they are noticing, I’m not noticing them noticing.”
Krista points out that while it is important if a relative is found to have the BRCA gene mutation to alert everyone else in the family who might be affected, it is crucial to find support outside the family network. Before her first surgery, she was linked into a WhatsApp support group through the Marie Keating Foundation.
“When you’re going through it, even when you have family members who have tested positive, you kind of can’t speak to them. Because everybody’s on their own journey, and you don’t want to be saying stuff to scare them or annoy them. You feel like you don’t want to put it on your family, you need someone impartial.
“The WhatsApp group is great, you can ask a question, and there’s loads of women in it, they’ll answer it immediately. It’s been a godsend; just knowing if you’re having a down day, you can send a message and someone else will go, ‘yeah I know, I felt like that too’. It’s just that sense of sisterhood, of family.”
There are also regular zoom meetings between the members of the group.
Krista, who is a speaker at the upcoming BRCA Conference, is now trained to give BRCA peer-to-peer support. “At the training, we all got in a room together, that was amazing. When you have BRCA gene mutation, everybody’s journey is different. But I didn’t realise how much in common I would have with these ladies. You just can’t explain the feeling when we all got into the room. It was like this is it, these are my people, this is my tribe. That’s why I’m staying in the loop with the Marie Keating Foundation and everything they do, not just for myself but for my daughters too.”
Krista’s eldest daughter Tiegan who is 23, came to her saying she wanted to get the test, for which the waiting list is now two years, Krista says. She has since decided not to rush it.
Krista told her daughter to go live her life. “I didn’t know until I was 40… It’s a different scenario when you’re in your early twenties. I had the luxury of not having to worry about whether I should have kids or not. Live your life. Have your test when you’re closer to having your surgeries.
“She came to me and said ‘I know I have this’. I can’t argue with that, because I did that as well. I’m praying she’s wrong, but I’m trying to get stuff in order if she’s right.”
⬤ The sixth annual BRCA Conference, organised by the Marie Keating Foundation and supported by Astra Zeneca and MSD, will take place this Friday (April 29) and all are welcome. The theme of this year’s conference is “Engaging in the family way” and will explore fertility, reproductive options, caring for mental health, and the impact BRCA can have on the family, with presentations from experts in the field of BRCA in Ireland.
Registration for this free conference is now open for both the in-person and online event. See mariekeating.ie/events/
⬤ The Marie Keating Foundation’s BRCA services provide information, advice and community for men, women and families affected by a positive BRCA gene mutation. Its BRCA peer-to-peer online portal allows members of the public who have positive BRCA gene mutation or who may be deciding whether to go for genetic testing, to avail of one-to-one support from trained peer-to-peer volunteers, who have all experienced a BRCA diagnosis.
⬤ The foundation’s bi-monthly online support group meetings give those living with BRCA the chance to connect with others on a similar journey, as well as expert guidance from the foundation’s specialised nursing team. Its active WhatsApp group for people at every stage of the BRCA journey is also an outlet for community discussion, and is available to all members of its BRCA support group. Check out mariekeating.ie/brcasupport/
https://www.independent.ie/life/health-wellbeing/health-features/living-with-the-brca1-gene-i-broke-down-when-my-sister-got-her-results-but-i-didnt-cry-getting-mine-41583424.html Living with the BRCA1 gene: ‘I broke down when my sister got her results but I didn’t cry getting mine’