Mother, Daughter Battle Syndrome
Parents and children may rejoice when they share traits and interests – but not when that joint heritage is a genetic link to a life-threatening disease.
Wheeling residents Stevie Baber and her daughter, Hollie Gillespie, have experienced hereditary breast cancer. As they handle this condition, they hope to educate other people about the dangers of Hereditary Breast and Ovarian Cancer Syndrome.
They are telling their story now, as National Hereditary Breast and Ovarian Cancer Week begins today and continues through next Sunday. As part of the observance, Wednesday is designated as National Previvor Day.
Baber, who was first diagnosed with breast cancer at age 37, battled the disease three times in the past 25 years. But it was not until after her 32-year-old daughter was diagnosed earlier this year did they learn of their shared genetic mutation.
Now, both women are taking steps to protect themselves against further incidence, but they’re not stopping there: they want women – and men – to know about the condition and the testing that can be done for risk assessment.
HBOC Syndrome is an inherited condition that causes increased risk for breast, ovarian, pancreatic and prostate cancer. Medical authorities say the majority of HBOC cases are caused by a mutation to either the BRCA1 or BRCA2 gene. These genes can be inherited from a mother or father, Baber emphasized.
Baber’s surgeon, Dr. Robert Cross of Wheeling, said, “If you have a gene mutation, your parents, your children, your brothers and sisters have a 50 percent chance that they have the same mutation. Other relatives such as aunts, uncles and cousins may also be at risk to carry the same gene mutation. Testing is the only way to identify gene mutation carriers and then it’s important to share the results with family members.”
Women with the BRCA1 gene have a 50 to 85 percent risk of breast cancer by age 70 and a 40 to 60 percent risk for ovarian cancer by age 85, according to officials of the National Cancer Institute. Men with BRCA mutation have increased risk of colon, pancreatic and prostate cancer, but their risk is not as high as that of women.
After a two-minute DNA saliva test, a sample is sent to the Myriad Genetic Lab in Salt Lake City, Utah. Baber said it is the only testing lab in the country for the two known BRCA genes. The testing, however, does not detect all causes of hereditary cancer.
According to the National Cancer Institute, criteria for testing includes:
- Breast cancer at 50 or younger;
- Ovarian cancer at any age;
- Male breast cancer at any age;
- Two breast cancers in the same person or on the same side of the family;
- Triple negative breast cancer at any age;
- Ashkenazi Jewish ancestry or a personal or family history of HBOC at any age;
- A previously identified BRCA1 or BRCA2 mutation in the family;
- Pancreatic cancer and an HBOC cancer in the same person or on the same side of the family.
Dr. Thomas Przybysz, a medical oncologist in Wheeling, said, “Insurance coverage for genetic testing is becoming more common as insurance companies are finding it more cost effective to cover preventative surgeries or treat early-stage breast cancer than metastic breast or ovarian cancer.”
Przybysz said, “Being tested not only defines the risk to the patient herself, but also gives important options to family members for their own medical management.”
A person who tests positive for BRCA1 or BRCA2 mutation has options to prevent or detect cancer as early as possible. According to Przybysz, these steps include:
- increased surveillance through self-examination and regular breast screenings starting at age 18; mammograms or Magnetic Resonance Imaging tests starting at age 25; ultrasound and pelvic exams by age 15 and blood tests;
- preventative surgery including the removal of breasts and/or ovaries and fallopian tubes;
- chemoprevention such as using the drug tamoxifen to reduce breast cancer risk or the use of birth control pills which may reduce ovarian cancer risk;
- lifestyle modifications, such as monitoring weight, alcohol consumption and smoking, to help reduce overall cancer risk.
More information about the syndrome is available at a website at www.facingourrisk.org.
Testing to determine the BRCA1 and BRCA2 genes began in the mid-1990s. Baber waited seven years – until after her daughter’s diagnosis – before she had the test performed.
“I was on my third go-round (with breast cancer) when my doctor wanted me to be tested seven years ago,” Baber recalled. “I said, ‘I’ll think about it.’ I’ve been under doctors’ supervision for 25 years.
“Ny doctor would ask (about testing) off and on. I just stupidly didn’t follow up on his advice,” she said.
Baber had undergone two lumpectomies and then had a double mastectomy in 2005. Explaining her delay in getting tested, she said, “I said, ‘I’m done with this. I’ve had all the chemo and everything.’
“Even three times down the road, I was just not ready mentally to think about the implications if I had hereditary breast cancer,” Baber commented.
Meanwhile, Gillespie, who began having mammograms at age 30, found a breast lump earlier this year. She moved up a scheduled mammogram and, at 32, she was diagnosed with breast cancer.
After Gillespie’s diagnosis, her mother decided, “I’ve got to find out what’s going on.” Both women were tested and were found to have the genetic mutation. “She and I have the exact same thing,” Baber said.
For Baber, the impetus for action came “when it hits you and smacks you in the face – she (Gillespie) is going to go through the same trauma I did,” the mother said. “My kids were young. Her kids are even younger.”
Based on those findings, Baber had preventative surgery last week. Gillespie finished chemotherapy treatment a couple of weeks ago; her final surgery is scheduled for mid-December. “Once you’ve been diagnosed with cancer, you want to go through anything you can to avoid cancer again,” Gillespie explained.
“I saw you go through this three times, and I was only going to do this once,” Gillespie told her mother. “As soon as the doctor told me my diagnosis, I knew what I wanted to do.”
Baber remarked, “We were the best support for each other. We’ve walked the walk … She was there for me, even as a little girl. We’ve been there for each other through this.”
Mother and daughter are a great support team for each other, but they are not in the fight alone. “We have great family support, great support from our husbands (Ken Baber and Ron Gillespie),” Baber said
“This is a family thing with us,” Baber added. The Babers’ son has been tested and is awaiting test results to assess the risk for himself and his 2-year-old daughter.
When Gillespie’s daughters, now ages 4 and 6, are old enough to understand, she will explain the syndrome to them and give them the opportunity to have regular screenings and, if they desire, to be tested for the genetic mutation.
Baber thinks she inherited the genetic mutation from her father’s side of the family because two aunts had breast cancer in their 40s. She offered this advice to others on genetic testing: “If you fall into this category like I did, don’t be afraid of what you’re going to find out.
“There are definite signs. There are definite reasons to be tested. If you test positive, you do have options,” Baber said.
As for Baber and her daughter, Baber said, “By the end of the year, we’re moving ahead. We’ll know we’ve done all we can to eliminate breast cancer for us for good.”
They agree that 2013 will be “lucky 13” for them. “We’re moving on to bigger and better things in ’13,” Baber predicted.