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The Genetic Boost to Managing Your Health

Thursday, June 21, 2018 8:46 AM

Amber Blomstrand was a little girl when her mother was diagnosed with Stage 4 breast cancer. Despite a very dire prognosis, Blomstrand’s mom fought hard to beat the odds, undergoing surgery along with brutal chemotherapy and radiation. Years later, cancer developed in her other breast, requiring another mastectomy. And then, just last year, her mom was diagnosed with ovarian cancer.

Amber

Armed with such a formidable family history of cancer, Blomstrand—now a wife and mother of three young children—was determined to take action to change the course of her future health, and not follow in her mother’s footsteps.

Proactive Physician Partner
The first steps came in working with her longtime NorthShore OB/GYN physician Suzanne Ashby, DO. Dr. Ashby suggested the 38-year-old Blomstrand take advantage of NorthShore’s Advanced Primary Care, which integrates genetics into a patient’s care plan. It begins with completing a Genetic and Wellness Assessment—a short questionnaire that asks about personal or family history of certain medical conditions.

Based on that initial assessment, Dr. Ashby had Blomstrand take a genetic test that confirmed she carries the BRCA2 genetic mutation, which puts her at increased risk for both breast and ovarian cancer. Using DNA to identify these risk factors helps physicians better detect the onset of diseases at their earliest, most treatable stages.

“It’s nice to have the opportunity to cheat cancer,” said Blomstrand, who grew up in Evanston and now lives in Chicago with her husband, their daughter and two sons.

When Dr. Ashby first brought up the possibility of genetic testing several years earlier, Blomstrand did not have children, and by her own admission really didn’t want to think about it. “Dr. Ashby was really sweet,” recalled Blomstrand. “She made sure I had yearly mammograms and that I took care of myself.”

Empowered by Knowledge
Four years and three children later, Blomstrand listened closely when Dr. Ashby again suggested genetic testing through the Advanced Primary Care program. “She made it clear that the testing was simple and that there are preventive measures I can take to avoid cancer.”

“It’s now easier than ever for patients to get genetic tests that empower them to take the next steps to be the master of their own destinies, explained Dr. Ashby. “We want patients like Amber to get through their child-bearing years, nurse their children and stay healthy.”

With Advanced Primary Care, NorthShore patients who complete the Genetic and Wellness Assessment review results with their physician and determine the need for advanced genetic screenings or referral to a personalized medicine specialist.

“If they had this test years ago, my mom might not have required such potent cancer treatments,” noted Blomstrand. Three of her maternal aunts also fought breast cancer, so Blomstrand was not surprised when she received the call from Dr. Ashby with the positive BRCA2 test result.

“It’s a heartbreaking conversation to have, telling a patient that our concerns were realized,” said Dr. Ashby. “But Amber is a ‘superstar.’ She can take this knowledge and do what she needs to do to be there for her family and live her life to the fullest.”

Stopping Cancer Before It Strikes
In response to the test results, Blomstrand plans to meet soon with NorthShore ovarian cancer expert Gustavo Rodriguez, MD, the Matthews Family Chair of Gynecologic Oncology Research. She wants to discuss prophylactic—or preventive—surgery including a hysterectomy, after she completes the Chicago Marathon this fall. Blomstrand already has a comfort level and confidence in Dr. Rodriguez, as he is her mother’s oncologist. “My mom loves him and she’s responding well to treatment,” she added.

Family is exceptionally important to Blomstrand, whose three sisters and brother all live in the Chicagoland area. She has talked with them about genetic testing, and hopes they will get tested too.

“Amber is leading by example for the rest of her family,” said Dr. Ashby, who also is her mother’s physician. “The testing can be scary, but it’s so important to understand that you have choices and options to make a real difference for your future.”

“I’m thankful I have such a good doctor and go to a health system that has this advanced care option,” emphasized Blomstrand. “There’s really no reason not to have a test like this so you can be informed and take preventive action.”