Genetic tests: Empowering the vulnerable

By Donna Hansard / April 11-20, 2011


At age 29, Kimberly Smith made the decision to have a double mastectomy. So did her sister, at age 25.

Neither had breast cancer.

They had lived with the disease and its consequences since childhood. Their mother was diagnosed with breast cancer in her early 30s, and the siblings had heard stories about their maternal grandmother, who died of breast cancer in her 30s, leaving six young daughters to be raised by their grandfather. In all, several aunts, great-aunts and a great-grandmother also died of the disease, all at young ages.

From left: Martha Rose, mother, 15-year breast cancer survivor; Skylar White, sister; and Kimberly Smith.

For Kimberly and her sister, Skylar White, breast cancer seemed inevitable. But not if they could help it.

When the women learned there is a test that can determine whether a particular gene definitively points to an increased risk of developing breast cancer, they were determined to discover if they were vulnerable.

Results of testing at
UT Southwestern’s Mary L. Brown Breast Cancer Genetics and Risk Assessment Program in the Harold C. Simmons Comprehensive Cancer Center confirmed that both women — as well as their mother, now in remission — carried a mutation of the BRCA gene.

“We kind of expected to hear that, but it still was scary,” Ms. Smith said. “It was tough. We all cried. But not one time did my sister and I ever think, ‘What do we need to do now?’”

Linda Robinson, genetic counselor supervisor at UT Southwestern, met with the sisters and their families and provided information and available options.

“We have known for our entire lives that if we ever got the opportunity to have a mastectomy and have the chance of being 99 percent healthy for the rest of our lives, that’s what we would do,” Ms. Smith said. “I had gotten married not long before. And I had my daughter, and I knew I had to be around. I had no choice.”

Ms. White had her prophylactic double mastectomy first, in an Abilene hospital in January 2009, five weeks before her wedding. Ms. Smith had her mastectomy three days after her sister’s ceremony, March 10, 2009, at UT Southwestern. Dr. Michel Saint-Cyr, assistant professor of plastic surgery, performed both her mastectomy and subsequent reconstructive surgery.

It was a rough time for Ms. Smith. Her daughter, then 1½, went to her parents’ house in San Angelo for six weeks while she recovered.

“It was awful having her gone. But I knew I had to heal,” she said. “I had to get up every day and do the exercises they gave me. My husband and daughter needed me, so I had do it, no matter how hard — so I could be the best mommy and wife I could possibly be.

“Even when Emma came home, I couldn’t pick her up and hold her. That was probably one of the most difficult parts of the healing process.”

Reconstructive surgery for both sisters was not as difficult as their initial procedures, and “implants were a breeze,” Ms. Smith said, even though it involved another two-month recovery.

Dr. Saint-Cyr had placed expanders, similar to balloons, under her skin during her mastectomy. A metal portal allowed for saline injections into the expanders for several months prior to reconstructive surgery.

Genetics, risk assessment

UT Southwestern has one of the largest and most comprehensive genetic testing programs in the country as part of the Harold C. Simmons Cancer Center, which recently attained National Cancer Institute (NCI) designation, the first and only medical center in North Texas to achieve this prestigious status.

More than 4,000 women have been tested for hereditary breast cancer since the program’s establishment in 1992. About 650 have been identified with the BRCA gene mutation.

“Genetic testing is a way of looking into the future,” said genetics counselor supervisor Linda Robinson. “Information is knowledge and allows women to be proactive in making decisions about their health.”

Visit http://www.utsouthwestern.org/cancercenter to learn more about UT Southwestern’s clinical services for cancer, including genetic testing, or call 214-645-4673.

“Dr. Saint-Cyr was awesome,” she said. “I asked a million questions. He drew pictures, showed me illustrations from medical books, showed other people’s photos, and sent videos to watch.”

Ms. Smith says the decision to undergo the difficult 18 months — from mastectomy through reconstruction — was right for her and her family. “I am alive. I will never have breast cancer and have to go through what I saw my mother go through. It is such a weight lifted off my shoulders.”

Facing the ordeal at the same time as her sister helped, she said.

“It’s one thing to have a husband or friend to lean on, but when you can call your sister or your mom and know that they have been through the exact same things — and they can say it hurts, but you’re going to get over it — made a lot of things easier,” said Ms. Smith, who plans to tell Emma about her experience and the importance of genetic testing when she gets older.

“The hardest thing is finding out your results,” she said. “The next part is easier, as you have options. You pull yourself up every day, and you do it for your husband, kids and family. And you do it for all the women who never had the opportunity to have these options available.”

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