Somaya Ishaq's family members didn't understand: Why would she have her ovaries removed when she was 35 years old and healthy?
Ishaq learned last year that she had a BRCA mutation, a genetic abnormality that puts her at an increased risk of cancer. She worried most about ovarian cancer, which her mother battled at a young age but survived.
"I kept telling everyone I want to live to see my kids grow, I want to see them grow old," said Ishaq, who lives in Irvine. "I completely felt like I was alone in the world."
The number of people, particularly young women, being tested for cancer-causing mutations has skyrocketed in recent years as tests have gotten cheaper and faster.
It has created a massive, growing community of Americans who are at risk for cancer, but haven't had it. Among them is Angelina Jolie, who announced in a 2013 New York Times op-ed that she had undergone a preventive double mastectomy because she was a BRCA carrier.
But experts say these "previvors" often feel lost in a medical system neatly divided between healthy and sick.
Doctors consider them "unaffected" because they haven't had cancer. Yet many undergo major surgeries, make difficult decisions that their families may not support and have to deal with the emotional burden of knowing cancer could be in their future, said Dr. Heather Macdonald, an obstetrician and gynecologist at Hoag Hospital in Newport Beach.
"She's not technically a cancer patient, yet she has all of these surrounding needs that most of these cancer patients do," Macdonald said. "These unaffected BRCA carriers and their families can sort of fall through the medical cracks."
Macdonald created a program at Hoag that addresses the complex medical and emotional needs of women at risk for hereditary cancers. The one-stop program, unique in an otherwise fragmented health system, could become a model for medical care as more people learn they have genetic mutations that predispose them to cancer and other diseases, experts say.
Ishaq had been thinking about having a third child, until she tested positive for a BRCA2 mutation.
"I'm an only child. I wanted a big family, but after having a long discussion with my husband, we both decided that what was more important was for me to be here," she said.
In the 1990s, scientists discovered that mutations in two genes made people more likely to develop breast cancer. They named the genes BRCA1 and BRCA2, after the first two letters in each of the words "breast cancer." Many people knew cancer ran in their family, but the test was proof they carried the risk in their DNA.
The lifetime risk of breast cancer for a woman with a BRCA mutation is as high as 72%, compared with 12% for the general population, according to the National Cancer Institute. The risk of ovarian cancer jumps from 1% to as high as 44%.
Ishaq had her ovaries and uterus removed last year, bringing her risk of ovarian cancer close to zero. She and her husband will adopt a child if they want another, she says.
Testing for BRCA mutations has become cheaper and more widely available in recent years, in large part because of a 2013 Supreme Court ruling that allowed more companies to offer the test. The Affordable Care Act also required that insurance companies cover the test for free for some women.
BRCA mutation tests among American women increased tenfold between 2004 and 2014, with the proportion of tests among women who'd never had cancer increasing from 24% to 61%, according to a recent study analyzing claims from a large national insurance company.
Yet the medical system isn't set up to address these women's complicated needs, Macdonald said. Many are tortured by the possibility of passing down the mutation to their children, stressed about getting sick themselves, and already traumatized by cancers that have affected their family members.
"These patients and families have a whole backstory of loss," Macdonald said.
About 1 in 400 women has a BRCA mutation, with rates highest among Ashkenazi Jews, doctors say. The mutations can be inherited from a mother or a father, and passed down to daughters and sons.
Macdonald's program, the Breast & Ovarian Cancer Prevention Program, employs doctors who specialize in breast and ovarian cancers and offers same-day test results to alleviate the stress of waiting for a phone call after a visit. Ishaq has sought the doctors' help in coping with menopause, which was triggered by her surgery last year.
Patients can also meet with a nutritionist who advises how to maintain an anti-cancer diet, as well as a genetic counselor who explains to families the risk conferred by mutations. A close family member of a BRCA mutation carrier has a 50% chance of sharing the mutation.
Ishaq met with the program's psychologist and learned to meditate in the mornings, she said. She has also had many conversations with her physician about if and when she should remove her breasts to decrease her cancer risk. As of now, she's planning to wait a few years, she said.
"Right after my 40th birthday," she said.
When it comes to cancer-causing mutations, the discovery of BRCA was only the beginning.
The nonprofit Facing Our Risk of Cancer Empowered, or FORCE, was started in 1999 to support BRCA mutation carriers. The organization claims to have coined the word "previvor" the following year. Its website now also lists several dozen other genes in which a mutation could be linked to cancer.
In fact, the science is evolving so quickly that people can be considered previvors with just a family history of cancer, said FORCE spokeswoman Karen Kramer.
"Lots of members in our community don't have a documented mutation, but still know there's something going on in their genes," she said. "We've only discovered the tip of the iceberg."
Some people have questioned whether so many women should get tested for BRCA mutations, and whether a healthy 25-year-old should have her breasts removed to reduce her risk. Others with a family history of cancer have opted not to get tested, saying they would feel weighted down by the knowledge.
However, studies suggest that over time, more women are getting tested and opting for preventative surgeries. One recent study found that 54% of women who test positive for a BRCA mutation chose to have a risk-reducing mastectomy, oophorectomy or both.
Paige More, 25, said having a preventative double mastectomy made her feel like "a warrior, not a worrier," though she didn't see that perspective represented on social media.
"I remember looking online and trying to find any kind of resource that would make me feel less alone," she said. "Where are the women who feel empowered and sexy and strong?"
She created an Instagram account called @paige_previvor, which has more than 20,000 followers. In her photos, she's usually smiling, topless, with her hands covering her chest, her surgery scars visible just below her fingers.
More said she leaned on a community of BRCA carriers who contacted her through social media to help deal with the anxiety she felt after her surgery and helped her learn how to love her new body. She recently co-founded a nonprofit called the Breasties to connect more survivors of cancer, those at risk of cancer, and caregivers, she said.
Nicole Garcia, 30, said she has been relying on online communities for support as she counts down the days to her preventive double mastectomy. She follows More on Instagram and joined a Facebook group called the BRCA Sisterhood.
"I'm 64-ish days out from my surgery, and every day I'm like, 'Am I doing the right thing?' " she said.