Andrea Whitmarsh pushes her daughters on the swing set in the backyard, brushes their hair and tucks them into bed at night with the same joy other mothers feel in similar moments.
She also harbors worries, far less familiar, that her girls will one day grow up to face a life dogged in part by cancer fears.
The concern is based on experience.
Like her mother before her – and almost certainly her grandmother and great-grandmother before that – Whitmarsh has the BRCA2 gene mutation.
She has up to a 70 percent lifetime risk of breast cancer. Her chances of getting ovarian cancer stand at nearly 20 percent. Her risk of pancreatic cancer, while only up to 7 percent, is 14 times higher than someone without her genetic predisposition.
Her children both have a 50-50 chance of carrying the same gene mutation.
"It's really scary going through this," said Whitmarsh, 35, of Akron. "You feel alone, like nobody knows what to do with you."
Her mother, Dawn Sagerman, is among those who help keep Whitmarsh grounded. After watching her grandmother and mother die from breast cancer, the 59-year-old community health worker proactively underwent a double mastectomy almost five years ago to drastically lower the biggest cancer danger she faced.
As Whitmarsh considers the same option, she and her mother also have spearheaded a new nonprofit group designed to support those across the region at higher risk for hereditary cancers.
The Familial Cancer Foundation of Western New York will host its first support group meeting at 7 p.m. Monday at St. Paul's Evangelical Lutheran Church in Williamsville.
Here's why mother, daughter and others touched by BRCA decided to start a Buffalo-based group.
Fair or not, hereditary cancers underline that life can often be an exercise in percentages.
Only about 5 to 10 percent of cancer cases have a genetic link but these cases tend to come on at earlier ages and with greater rage. Many remain undiscovered until the later stages.
About 1 in 400 people have a BRCA genetic mutation. That amounts to about 3,000 Western New Yorkers.
BRCA1 and BRCA2 are genes that work on the cellular level to repair damaged DNA and help suppress tumor growth. These genes work in pairs, one passed down to children from the mother, the other through the father. If either of these genes has a mutation, or alteration, cells are more likely to develop abnormally, raising the risk of certain cancers.
The BRCA mutations account for about 25 percent of hereditary breast cancers, 5 to 10 percent of all breast cancers and 15 percent of all ovarian cancers, according to the National Cancer Institute.
To be sure, cancers are common. The American Cancer Society estimates than nearly 1 in 2 men and 1 in 3 women in the U.S. will develop cancer during their lifetime. Chance – or environmental risk factors including tobacco use (smoking or second-hand exposure), excessive alcohol consumption and obesity – contribute to most of those cases, according to the society, though more subtle hereditary traits may also make family members more susceptible to some environmental forces.
Inherited gene mutations tend to give rise to cancers that are more uncommon, like male breast cancer, occur at younger ages, or cause two or more cancers in the same person or the same sets of organs (eyes, breasts, kidneys). They also more often tend to occur in siblings or on the same side of a family.
Actress Angelina Jolie helped make the BRCA gene mutation the most familiar of them when she announced in 2013 that she had a double mastectomy after discovering she carried the BRCA1 variety.
The mutation falls into the category of what is called hereditary breast and ovarian cancer syndrome.
About 12 of every 100 American women – and one in 1,000 men – will be diagnosed with breast cancer during their lifetime.
Roughly 60 of every 100 women with the BRCA mutation – and 4 of every 100 men – will face that fate.
"The breast cancer risk can be as high as 87 percent if someone has a mutation in one of the high-risk genes," said Laura Fisher, a genetics counselor at Windsong Health Medical Alliance in Amherst. "There’s also a higher risk for pancreatic cancer, prostate cancer and melanoma."
MORE THAN BRCA
Other genetic mutations include Lynch syndrome, which substantially raises the risk of colon and endometrial cancers, and Li-Fraumeni syndrome, a rare inherited syndrome that can lead to leukemia, brain, adrenal and breast cancers, often at young ages.
"We have over 20,000 genes in our body and this is just a small snapshot of those genes," Fisher said. She said more than a dozen genes have been identified when it comes to raising the lifetime risk for breast cancer alone, though not are all the same.
"There’s a handful of genes – particularly BRCA1 and 2 – where women should at least consider a bilateral mastectomy," Fisher said. "The others may not have that same implication."
A generation or two ago, these gene mutations were undiscovered, giving families no warning they were at greater cancer risk. The power – and challenge – of genetic testing is that if a gene mutation is verified, there are steps, while unpleasant, that can be taken to address the risk.
Another consequence: A parent with the BRCA mutation can pass along either his or her typical or altered BRCA gene, so a daughter – or son – stands to get the mutation half the time.
"One common misperception is 'I can only get this from my mom,'” Fisher said. "That’s not true because these mutations are in genes that both men and women have. ... We see some families that get really lucky and none of the children inherit the gene mutation and we see other families where it swings the exact opposite. It’s a flip of a coin for each child."
Fisher worked for about three years at Women & Children’s Hospital of Buffalo before taking a job last summer with Windsong. She is among a half-dozen genetic counselors in the region – three others are at Roswell Park Cancer Institute, two more at Children’s – who not only have a responsibility to deliver potentially troubling news, but also the ability to raise awareness that can empower a family to thoughtfully address, delay, and possibly prevent a variety of diseases, not only cancer.
Whitmarsh, executive director of the Familial Cancer Foundation, said the challenge is identifying those in the region who should consider genetic testing, supporting those who test positive with a genetic mutation, and helping bring more primary care doctors up to speed when it comes to becoming an integral part of that process.
WHO SHOULD GET TESTED?
Sagerman is president of the foundation. The Town of Tonawanda native remembers her grandmother, Julia Maier, being diagnosed with breast cancer in the late 1960s. She had a mastectomy and succumbed to the disease a few years later. Sagerman's mother, Shirley Maggio, was diagnosed with late-stage breast cancer in 1992, at age 58, despite regular mammograms. She had chemotherapy, radiation and what then was a new drug, Tamoxifen, which could be used for up to five years to help prevent a recurrence. The cancer returned shortly after she went off the drug. Maggio died at age 65 in January 2000.
"The whole family was there and this matriarch was helpless," said Whitmarsh, who was then 17.
Maggio's sister, Natalie Davis, was diagnosed with breast cancer in the late 1990s, and died in 2003, at age 79.
Sagerman's new primary doctor recommended she consider genetic testing when he took her family history in 2012.
"I think genetic counseling is appropriate for anyone who’s interested in learning more about cancer risks, particularly if they have a personal or family risk of cancer, because I’m here to educate," Fisher said. "I’m not here to push genetic testing on anyone. I only want a patient to pursue testing if they think the information would be helpful to them or their family.
Fisher recommends testing for anyone with three or more breast cancer cases on the same side of a family, with a personal or family history of breast cancer diagnosed at age 45 years or younger, or a family history of ovarian cancer. "BRCA1 and 2 are also associated with pancreatic and prostate cancer, so if we see a constellation of other cancers in a family, that could be an additional way a person could qualify" for testing, she said.
The cost for a genetic test – blood or saliva is used – is generally a copay of $100 or less.
Those who have tested positive for certain cancers also should consider testing. Cancer treatment differs for many patients with genetic predispositions, including those with breast, prostate, acute lymphocytic leukemia, non-small cell lung cancer, a certain kind of non-Hodgkin lymphoma, and melanoma.
Fisher recommends that parents with a possible genetic link be tested before children. If the test comes back positive, then children and other family members can be approached about testing.
Whitmarsh is curious about whether her daughters carry the same gene mutation she does but knows Isis, 7, named for an Egyptian goddess, and Ophelia, 4, are far too young to test.
Still, she said, as sons and daughters at a higher risk push into their 20s, they need to understand that their parents already may have lost loved ones to BRCA-related cancers, and want to encourage testing. Meanwhile, parents have to realize that there are limited options for those who test positive until they're closer to age 30.
"I look at finding out I was BRCA positive as a gift," Sagerman said. "Knowledge is power and it gives you the power to control what you're outcome is going to be. You can be proactive. You can choose to do screenings or you can do more. Our passion for this foundation is you can give people the information they need to make those informed choices."
Uncertainty set in after Sagerman and then Whitmarsh got the news of their positive BRCA2 tests. They couldn't help but recall the agony of the last weeks of Maggio's valiant fight, one that doctors predicted would be much shorter.
"You know how you feel about your kids," Sagerman said. "You feel that you want to take anything bad away from them that you can. Right away, Andrea was thinking she had to have a double mastectomy and get her ovaries taken out. I told her, 'You have to step back and figure out where you are in terms of age, where you are in your life. We have to get facts."
Sagerman was 54 when she tested positive. She had a hysterectomy a few years earlier, and was comfortable scheduling a double mastectomy and reconstructive breast surgery shortly after her test result. Her daughter watched Sagerman struggle through complications and three related surgeries during the next two years.
Whitmarsh was pregnant with her youngest daughter during her test, and bristled three months after she finished breastfeeding Ophelia about a year later when a doctor asked if she wanted to schedule a similar surgery.
She and her mother instead went to visit the Basser Center for BRCA at the Abramson Cancer Center of the University of Pennsylvania. By that time, she was also going through a divorce and wondering what any future relationships might hold.
Whitmarsh and Sagerman talked for three hours with BRCA specialists who told Whitmarsh she didn't have to make the biggest decisions until she was closer to age 40.
"Every woman my age who I've met who's BRCA positive has already had a double mastectomy," Whitmarsh said. "I'm behind. There's not even a question. They just do it. It's the only way to guarantee you're not getting breast cancer." Thinking about removing her ovaries, as well, seemed like "a crappy option for a 35-year-old who hasn't gone through menopause," she said.
"Sometimes I think I'm being selfish not having a mastectomy or my ovaries removed because I have two children, and I would be really upset with myself if I had ovarian cancer or breast cancer and I could have done something about it," she said. "But those surgeries kind of scare me. They are life-altering. I don't know if I'm ready for that."
Instead, Whitmarsh has chosen to do her best otherwise to prevent cancer. Her diet includes plenty of fruits and vegetables, and few processed and sugar-laden foods and drinks. She exercises regularly.
She will consider surgery at some point but meanwhile has opted to get a mammogram and MRI annually, each separated by about six months.
That, too, has come with challenges.
"I feel like I'm going to doctors constantly," she said. "I have skin mapping done once a year for melanoma. I've been to Roswell Park Cancer Institute to talk with them." They advised a double mastectomy and hysterectomy at age 40.
Meanwhile, like her mother and grandmother before her, Whitmarsh has dense breast tissue that makes reading mammograms tricky under the best of conditions. Radiologists, who know about her genetic makeup, also feel extra pressure to get things right.
"Every time I get an MRI or mammogram, they find something and I have to have a biopsy," Whitmarsh said. "I wait a week for those biopsy results and it's stressful. Sometimes I think, 'If I have a mastectomy, I don't have to deal with the stresses – the biopsies every six months. But is that my only option? I'm 35 and I'm going to have a double mastectomy? That's not really a nice alternative."
She also has been denied life insurance and had to cover some of the biopsy costs out of pocket, which can add up to more than $1,500 every six months.
She is thankful for her primary care doctor, Yellamraju Kumar, who also treats her mother. Kumar, vice president of the new Familial Cancer Society board, has told the the two women he once left it up to gynecologists to talk with his patients about hereditary breast cancer risks. Not anymore.
"We would recommend a mammogram one time per year and a breast MRI once per year, and we would alternate them so a woman is getting screened every six months," Fisher said. "A woman could take the drug Tamoxifen as another preventative measure. Those are alternatives to surgery. ... A woman who’s 25 who hasn’t had any children yet may want to consider surgery when she’s 35 and she’s had her children and had the ability to breast feed.
When a woman has aggressive breast cancer and a history of breast cancer in her family, that woman usually gets tested for the BRCA gene mutation, Whitmarsh said. That's not always the case for men.
Men with the mutation are at least twice as likely as those without it to get prostate cancer during their lifetime. Worse yet, those cases often come on earlier, and with greater force.
The prostate cancer message doctors often convey is that people don't die from prostate cancer and the PSA diagnostic test has limited use.
"Thousands of men die every year from prostate cancer," Sagerman said. "I think that advice gives a false sense of security about not having screenings done."
Facing our Risk of Cancer Empowered (FORCE), a national nonprofit hereditary cancer advocacy group, recommends the PSA test twice a year for men who are BRCA positive. In some states, those 55 and younger diagnosed with prostate cancer are automatically tested for BRCA, said Whitmarsh, who holds a master’s degree in cancer prevention and pathology from the University at Buffalo and has trained at Roswell Park.
"A patient can do whatever they want but a doctor needs to say, 'We recommend BRCA testing for these reasons.'
"I want everyone who is at risk to get tested, but it is a choice."
Whitmarsh and Sagerman are among those who now understand that when it comes to cancer risk, and so many other important things in life, ignorance is bliss - until it isn't.
"The day my grandmother died, I was still in denial," Whitmarsh said.
She and her mother attended the last annual FORCE conference, where they met hundreds of men and women who share a BRCA mutation. They vowed to help the national nonprofit do what they can to advocate for more robust hereditary cancer education, as well as legislation that better protects those with genetic mutations.
"They've said they will hold our hand through this process," Whitmarsh said. The Familial Cancer Foundation of Western New York also looks to reach out to other groups with similar missions, including a group in Rochester and the Young Survivor Coalition closer to home.
"We take this day by day," Whitmarsh said, "and keep pushing forward to make the changes we can. Finding people that have what we have also has been the best thing, and that's what we want to be able to provide to others, if nothing else."
The foundation already has helped Whitmarsh connect with another woman in the region who is about her age, has the same gene mutation and already has gone through a double mastectomy and breast reconstruction.
"Her breasts look better now than they did before," Whitmarsh said with a smile. "Sharing stories helps educate others, too. It helps to share that it's not the end of the world, that there is a light through all this."
Familial Cancer Foundation of WNY (fcfwny.org): Started last year to raise awareness about hereditary cancers, provided resources to individuals with genetic predispositions to cancers and to help plug them in to available resources. Support meetings take place at 7 p.m. the third Monday of each month, including next week, at St. Paul’s Lutheran Church, 68 Eagle St., Williamsville.
Roswell Park Cancer Institute (roswellpark.org): Anyone with a personal or family history of cancer who would like to talk about whether it might be hereditary can request an appointment with the Clinical Genetics Service, which provides advice about cancer risk management and screening. To find out whether you are a candidate for genetic counseling and/or testing, call 877-275-7724 or email askRPCI@RoswellPark.org.
Facing our Risk of Cancer Empowered, or FORCE (facingourrisk.org): Improve the lives of individuals and families whose lives are impacted by hereditary breast, ovarian and related cancers; provides expertise, resources and voices from across the country.
Pink Pal (brightpink.org/pinkpal): One-on-one peer support for young women at high risk for breast and ovarian cancer.
Breast Cancer Network of WNY (bcnwny.org): Depew-based resource center which supports all who have been diagnosed with breast cancer, including the newly diagnosed.
Windsong Breast Care (windsongbreastcare.com): The practice's genetics counselor, Laura Fisher, can take family cancer histories and determine whether genetic testing should be part of a cancer prevention strategy.
BRCA Sisterhood (facebook.com/brcasisterhood): A nearly 9,000-member Facebook group that provides online information and encouragement to those with the BRCA gene mutation and their loved ones.
HeritX (heritx.org): A nonprofit group made up of leading research scientists who have the BRCA gene mutation in their families and are bent on preventing hereditary cancers, starting with BRCA.
Visit knowbrca.org to take an online BRCA gene mutation risk assessment. This program is a collaboration between the CDC Division of Cancer Prevention and Control and Bright Pink .
GENETIC BREAST CANCER RESOURCES FROM THE BUFFALO & ERIE COUNTY PUBLIC LIBRARIES
“The New Generation Breast Cancer Book: How to navigate your diagnosis and treatment options – and remain optimistic – in an age of information overload,” Elisa Port
“Pandora’s DNA: Tracing the breast cancer genes through history, science, and one family tree,” Lizzie Stark
“Pretty is What Changes: Impossible choices, the breast cancer gene, and how I defied my destiny,” Jessica Queller
“Previvors: Facing the breast cancer gene and making life-changing decisions,” Dina Roth Port
“Understanding Breast Cancer Genetics,” Barbara T. Zimmerman
“Waiting for Cancer to Come: Women’s experiences with genetic testing and medical decision making for breast and ovarian cancer,” Sharlene Nagy Hesse-Biber
Twitter: @BNrefresh, @ScottBScanlon