Buffalo News (New York), May 20, 2007, Sunday

Copyright 2007 The Buffalo News

All Rights Reserved

Buffalo News (New York)

May 20, 2007 Sunday

FINAL EDITION

SECTION: NEWS; Pg. A1

HEADLINE: Woman makes hard choice in bid to avert breast cancer;

Double mastectomy done at young age

BYLINE: By Henry L. Davis - NEWS MEDICAL REPORTER

BODY:

Glynis Ritchie grew up with a frightening piece of information that gnawed away at her: She knew how she would die.

Breast cancer killed her grandmother, as well as her mother's two sisters. Her mother has battled the disease for nearly 11 years. Ritchie can also count at least a dozen more relatives over the last two decades with the cancer.

Knowing that many of them died young and that her risk was great, Ritchie made a gut-wrenching choice: Even though she is healthy, the 22-year-old Amherst native underwent surgery to have her breasts removed to reduce the chances of developing the disease.

Other women with a family history of breast cancer make a similar decision. But this case is different.

Ritchie is exceptionally young for a double preventive mastectomy, and her mother and father don't carry the known gene mutations associated with the disease.

"I saw daughters in my family developing the disease at earlier ages than their mothers," said Ritchie, who is recuperating in her parents' home. "It gave me this great sense of urgency to take care of something before there was a problem."

This year, an estimated 178,480 women in the United States will be diagnosed and 40,460 will die from invasive breast cancer, according to the American Cancer Society.

About 5 percent to 10 percent of all cases are linked to alterations in certain genes -- most commonly the BRCA1 and BRCA2 genes.

Genes are the body's instruction manuals for making cells, and women with these gene mutations have up to an 80 percent chance of getting breast cancer. Medical advances have led to tests that can detect thousands of genetic defects linked to many diseases, including the inherited forms of breast cancer. But more knowledge has created new problems for patients.

Patients like Ritchie are often left with difficult choices, not clear-cut answers.

Ritchie attended Williamsville North High School and Cornell University's School of Industrial and Labor Relations. In the spring of 2006, she joined Teach for America in Atlanta, which places college graduates in low-income public schools with teacher shortages. Ritchie left the program to return home after her mother, Rebecca, developed breast cancer for the second time.

Rebecca Ritchie, a lawyer at Univera Healthcare and local playwright, was diagnosed with cancer in 1996, only a week after undergoing a double preventive mastectomy.

By the time Glynis came home last summer, her mother had exhausted the available chemotherapies and was deathly ill with a disease that remains a bit of a mystery to the Ritchies.

>High risk

BRCA mutations are often found in Jewish women of Eastern European descent, which describes Rebecca's side of the family. Moreover, genetic tests revealed three extended family members -- one on the mother's side and two on the father's -- with BRCA mutations.

But there's no sign of the known gene mutations in Glynis or her parents, suggesting an unidentified gene mutation that increases their risk for an altogether different reason.

"A negative test doesn't rule out a mutation. It's not 100 percent," said Carolyn Farrell, who has counseled the Ritchies as director of the clinical genetics service at Roswell Park Cancer Institute. Although cancer and death were constant parts of their lives, the family never talked about what Glynis might do about it. She just went about her life.

"I assumed she would get breast cancer. She probably had a 100 percent risk. The only question was how long she could safely wait until having a mastectomy," her mother said.

Many women at higher risk monitor themselves for symptoms, using mammograms. But Glynis worried that mammograms had failed to pick up early lesions in the cancers that stalked her family.

"I grew up believing that if you wait until someone finds something in your breast, it's too late," she said.

The turning point came sooner than later.

As they sat on a swing set in the backyard last August, Rebecca's condition at its worst, Glynis asked her mother about a mastectomy. Even with the family's history, it seemed like an extreme step for someone so young.

"My mother said she would never encourage me to do it or tell me what to do. But if she could be a fairy godmother and wave a wand so that this disease not dominate my life, she would do it," Glynis recalled.

That was all she needed to hear. The search began for the right medical team -- one specialist to remove the breasts and another to immediately perform reconstructive surgery. They also wanted doctors who would support Glynis' choice but not without question.

"The patient in this procedure has to be committed. Otherwise, they will be miserable," Rebecca said. "We needed physicians who were open to operating on a young person but who would also challenge the decision."

The first consultations with surgeons in Buffalo left Glynis discouraged. They told her she might be permanently mutilated by the procedure.

Surgery scared her. Like any young woman with thoughts of marriage and children, Glynis worried about her appearance. She knew it made her seem superficial, but she asked if she would be able to wear an evening gown, a style of special-occasion dress she loved.

>Hard decision

Not without using external artificial breast forms, the doctors said.

The cautious, reluctant reaction doesn't surprise Jeannine Salamone, a breast cancer survivor with the Young Survival Coalition, a New York City-based advocacy group.

"You can't depend on physicians to tell you what to do," she said. "You have to do your own homework on this to see if it's right for you."

So, Glynis worked the telephone, trying to find other young women who could put her mind at ease.

She came across Lindsay Avner in Chicago, who went on to form the BeBrightPink.org group after undergoing a double mastectomy to remove her healthy breasts last year when she was 24.

"A lot of doctors will tell you to wait, that you are too young to make this decision, that it's too drastic," she said. "But what difference does it make if you are going to do it anyway someday?"

Statistics on how many women opt for surgery over surveillance are unclear. Dr. Steven Narod of the Centre for Research in Women's Health in Toronto last year presented findings from his studies of 7,211 women over age 25 from 11 countries in which he found that 25 percent of U.S. women with BRCA mutations chose double preventive mastectomy.

Glynis eventually found two doctors who assured her that losing her breasts would not mean losing her femininity. They could restore her appearance, they said. She checked in to Beth Israel Hospital in New York City in late April for the operation, which research suggests lowered her risk by about 90 percent.

Although still recovering, Glynis and Rebecca are making plans to walk June 9 in the Susan G. Komen Race for the Cure in Buffalo.

"I'm extremely sore, but it's nowhere near the pain cancer has wreaked on my family," Glynis said. "I'm lucky I've had an opportunity to take action."

Mother and daughter formed a team for mothers and daughters -- reach them at Mothers.Daughters@gmail.com -- with a goal of raising $10,000 for breast cancer research and treatment.

For Glynis, the event is also about overcoming adversity. "There's a chance you'll see me walking in an evening gown," she said.

e-mail: hdavis@buffnews.com

GRAPHIC: John Hickey/Buffalo News Glynis Ritchie, 22, left, had a double mastectomy to reduce the chances of developing breast cancer. Her mother, Rebecca, was diagnosed with cancer in 1996, a week after undergoing the same procedure.