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What it’s like living with the BRCA gene mutation: ‘It’s just so hard’

Women all across Canada have the BCRA gene mutation. .
Women all across Canada have the BCRA gene mutation. . Handout photos. Art by Laura Whelan

Editor’s note: A previous version of the story incorrectly stated O’Grady had melanoma and received radiation, in fact, she had basel cell carcinoma. Global News regrets the error. 

Jackie O’Grady was 54 years old when she was diagnosed with breast cancer in one breast. But she had a plan to fight it: a bilateral mastectomy, to lessen the chances of it coming back.

Then, in the midst of her recovery, she received more bad news: she had tested positive for the BRCA2 gene mutation.

“I was way, way more upset than I was about having the cancer diagnosis.”

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“Because I have children. I have a granddaughter, and I can pass it on.”

Jackie O’Grady has had numerous health concerns after multiple surgeries because of her BRCA2 gene mutation.
Jackie O’Grady has had numerous health concerns after multiple surgeries because of her BRCA2 gene mutation. Photo by Ima Ortega, art by Laura Whelan

The BRCA1 and BRCA2 gene mutations are a change in chromosomes that make your chances of getting cancer higher. Canadians can have their blood tested at the recommendation of a genetic counselor or family doctor if they have a history of breast or ovarian cancer in the family.

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They are passed from parent to child — from both the mother or the father to a child of either gender. The chances a child has the gene mutation one of their parents has is 50 per cent.

Identifying the signs of breast cancer
Identifying the signs of breast cancer

It means people carrying the gene are more likely to get breast and ovarian cancer — and other related cancers — than the average person. For women with a gene mutation, it can mean she has up to 80 per cent chance of getting breast cancer in her lifetime. The average woman has a one in eight (12.5 per cent) chance of getting breast cancer in her lifetime.

Men with the BRCA2 gene mutation are eight times more likely to get breast cancer before they are 80 years old, and men with the BRCA1 mutation have an increased chance of getting prostate cancer.

Melanoma and pancreatic cancer are also associated with the gene.

O’Grady — who also has had treatments for carcinoma — is taking precautions as much as she can to mitigate her risks: she says she’s eating healthier and exercising more, as well as wearing sunscreen and using a topical CBD oil to mitigate the melanoma risks.

But there’s always a worry in the back of her mind about her health.

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“You don’t know if it’s ever gonna be gone for good, or where it’s going to turn up next,” she told Global News.

Doctors recommend more intense screening for those with the gene mutation: in Ontario, women over 30 with the gene are able to get mammograms once a year, as well as a breast MRI and ultrasounds, which isn’t part of the screening for the average woman. Each province has it’s own set of regulations, but they are similar.

The emotional toll of breast cancer
The emotional toll of breast cancer

For men, more regular prostate exams are recommended.

Since ovarian cancer is harder to diagnose, and many are late-stage diagnosis, doctors recommend women who have already had children to get an oophorectomy — where they remove the ovaries and Fallopian tubes, but not the uterus.

That comes with its own set of side-effects, including induced menopause, and along with it symptoms like hot flashes, a decreased sex drive, vaginal dryness and mood swings. While there are hormone replacement medications, the symptoms can persist.

‘I’m not just one gene’

That was a concern for Lauralyn Johnston of Toronto — who found out she had an aggressive version of the BRCA1 gene in 2017. While she didn’t have cancer, she got tested because a family member tested positive for the gene mutation.

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But since her family has a history of dementia after menopause, inducing that was something she didn’t want to start early.

“I’m not just one gene,” she said. “Explaining to my medical professional that I’m not just my (gene mutation) was kind of a recurring theme.”

She did her own research and decided to get a salpingectomy, removing the Fallopian tubes and leaving the ovaries.

Lauralyn Johnston, who has the BRCA1 gene mutation, and her daugher Eria Byrne.
Lauralyn Johnston, who has the BRCA1 gene mutation, and her daugher Eria Byrne. Handout. Artwork by Laura Whelan

At the moment, this is not a standard,” said Dr. Christine Elser, a medical oncologist at Toronto’s Princess Margaret Cancer Centre.

“We don’t know if it is as effective as removing the ovaries as well. But that is a procedure that once we learn more about, may have a role in a better quality of life.”

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Johnston said she wanted to balance her quality of life with her life expectancy — and has come to terms with the fact that her lifespan may not be as long as 84 years old, the average age of a Canadian woman according to Statistics Canada.

So while there may still be a risk of ovarian cancer because she still has her ovaries, she believes her life will be better because of it.

For Maja Adolfo-Piwek of Toronto, who was diagnosed with breast cancer at 39, the side effects of her two mastectomies and oophorectomy are constant.

“You can go back to your life, but you can never really go back to your life,” Adolfo-Piwek said.

Her side effects include hair loss, hot flashes, and vaginal dryness, which she says is “quite painful.”

“They told me about the hot flashes, but they never told me about all the other stuff.”

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I think there is a gap in the system, in the medical system where the oncologists, all they want you to do is just remove (your ovaries and breast) because they want to save your life. But they do not prepare you for what’s to come after that.

“And it’s just so hard.

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Maja Adolfo-Piwek was found out she had the BRCA2 gene at age 39.
Maja Adolfo-Piwek was found out she had the BRCA2 gene at age 39.

But in the end, Adolfo-Piwek called it a blessing in disguise, because now she’s forewarned.

“I can remove my ovaries and remove my other breast and lower my chance of having cancer. I mean, obviously, nothing is ever 100 per cent, but it will help me,” she said.

Moving forward

What’s most concerning for the women Global News spoke to is the risk to their children.

Adolfo-Piwek has a son with autism. O’Grady has two sons and a granddaughter. Johnston has a 17-year-old daughter. They all say they worry about what it means for them.

READ MORE: What it’s like to get cancer as a parent: ‘I began planning out my next 5 years’

But we’ve known about the BRCA gene mutations for decades now, and the science is only getting clearer as we learn more about the gene mutation.

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Johnston’s daughter Erya Byrne is in her first-year university, studying biochemistry. She said she was affected by watching her mom go through the surgeries she did.

In the end, she’s hopeful for the future.

“In the next 10 years, there’s so much happening in gene therapy and so much happening in cancer treatment,” Byrne said.

READ MORE: Cancer can severely damage your mental health. Why don’t we talk about it?

While she was always interested in biochemistry, Byrne said the experience has pushed her to look into studying oncology.

What does prevention look like? 

Dr. Elser, along with geneticist Dr. Raymond Kim of the Princess Margaret Cancer centre, said there are trials into how to prevent breast cancer going currently going on — including testing of PARP inhibitors. (Read more about what a PARP inhibitor is at the U.S. National Cancer Institute here.) 

Adolfo-Piwek is currently on one of those trials, saying she just wants to help people in the future.

Dr. Kim says the increased awareness and testing for the gene means they can proactively tackle it.

“A lot of young women who are concerned about their next generation too,” he said

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“What’s been available for decades is that we can engineer embryos to not carry the genetic mutation and put those back into the women so their daughters or son don’t carry that genetic change. So what we hope, if genetic testing was very pervasive in a family then the subsequent generations wouldn’t need to worry about that.”

Author chronicles family’s legacy of hereditary cancer
Author chronicles family’s legacy of hereditary cancer

As for the women themselves? They say they won’t let the gene stop them from living their lives.

I can’t let things ruin my life like that. I need to like my life,” O’Grady said. “I had a little bit of a pity party and then moved forward to smile again and have fun again and be strong.”

For Adolfo-Piwek, she calls every day with her son a blessing.

And for Johnston, the positive mutation diagnosis offered her a chance to do some things on her to-do list: “After a long engagement, I actually got married this summer. I ran for council.”

I just wanted to do something to make [the world] better. If every single person on earth just kind of goes with ‘I’ll leave things in better shape than I started with, we’ll do a lot better in the world.”