By Judith Graham
Tribune staff reporter
December 2007
Five months before she died of a rare form of stomach cancer, Sandra McNamara uncovered a devastating family legacy.
Her illness was closely linked to a genetic mutation. She had it, and that meant her three sisters and their children might have it too.
McNamara picked up the phone and started calling relatives in Chicago, Boston and Denver. You need to know, she told them. This cancer is hereditary. Get tested. Find out if you’re at risk.
The disclosure threw the family into turmoil as alarmed relatives evaluated their choices, including whether to have their stomachs surgically removed as a preventive measure.
Few families have grappled as dramatically or extensively with their genetic heritage, though tests for other mutations, such as those linked to breast cancer, have been available for years. Many more people will find themselves in similarly wrenching situations in the years ahead as genetic tests proliferate and scientists learn more about the genetic basis of disease.
With advance knowledge of their potential destinies, people will ponder whether to share the information with parents, siblings and children and how best to respond to worrisome risks.
The story of McNamara’s family provides a glimpse of how complicated and life-changing these genetic revelations promise to be.
In their case, the threat was hereditary diffuse gastric cancer, which hides in the stomach and forms small tumors scattered like needles in a haystack. It’s difficult to catch through screening, the way women try to find early breast cancer with a mammogram. Typically, by the time symptoms occur, the disease has reached a serious stage.
For people with the mutation, however, the alternative to screening is terrifying. The only current option to prevent this cancer is removal of the entire stomach—an extraordinarily radical step that could save their lives.
Ultimately, McNamara’s family opted for genetic testing, and six female relatives learned they carried the stomach cancer
mutation. Four of the six pursued stomach surgery; two opted for regular screenings. All are still confronting the consequences of their decisions.
Sandra McNamara was the second of five sisters, a dignified, religious woman who loved to paint and who had worked for years in human resources at Walgreens before retiring in Glenview.
The sisters knew there was cancer in the family, but in 1961, when McNamara’s father died of stomach cancer, it was an illness people didn’t discuss. Fourteen years later, when one of the sisters succumbed to the same disease, it seemed like a fluke.
McNamara was diagnosed with breast cancer in late 2004. While still on chemotherapy, McNamara returned to Evanston Hospital with abdominal pains, and doctors discovered advanced stomach cancer.
Scott Weissman, a genetics counselor at the hospital, had a hunch McNamara might have hereditary diffuse gastric cancer, a rare condition identified only seven years earlier.
Only about 100 families of various ethnicities have been identified with this disease worldwide, said Dr. David Huntsman,
a genetic pathologist at the British Columbia Cancer Agency in Canada.
Testing would show McNamara carried a telltale genetic mutation linked with the cancer. The mutation—a coding error in the genetic software that resides in cells—lies on the CDH1 gene, which is responsible for making a protein that binds cells together.
The implications were clear: McNamara’s father probably had carried the mutation, as had the sister who died.
For the surviving sisters, this was a potentially deadly inheritance. Seventy percent of people with the mutation develop hereditary diffuse gastric cancer by the age of 75, research shows. The only treatment is stomach removal surgery, sometimes accompanied by chemotherapy and radiation.
Outcomes are dismal. Dr. Jennifer Obel, an Evanston Hospital oncologist, said a mere 10 percent of patients with diffuse gastric cancer are alive five years after diagnosis.
Telling her family about the genetic mutation would be McNamara’s final gift, an effort to save them from the suffering she had to endure.
Her three surviving sisters took the news in stride, aided by a large dose of denial. Still, all quickly decided to get tested.
Linda Green, then 69 and living in Batavia, was sure she was OK—but if, God forbid, there was a problem she’d want her three kids to know.
In Denver, Judy Bulow, then 59, also was convinced she was safe. “I thought, ‘I’m healthy, and I’m strong,’ ” Bulow said. But she wanted the truth too.
“I was hoping I wouldn’t have it, that I’d be fine,” said Martha Lassy, who lives in Geneva and declined to give her age.
McNamara left it up to her sisters to disclose the medical discovery to their families, but she reached out to three members of the next generation: the children of her fourth sister, Bonnie Gosse, who had died of stomach cancer 30 years earlier, at age 33.
The news was overwhelming. “It brought back all the stuff from my childhood, when mom died,” said Julie Gosse, who grew up in Elgin and now lives in Denver.
“My initial feeling was shock, but this pulled the pieces of the puzzle together—what had happened to my grandfather and my mom, and what was happening to my aunt,” said Julie Gosse’s brother Jeff, of the far west suburbs.
“I was completely devastated,” said their sister Aimee Mury, who lives outside Boston.
The parallels with the past were frightening. When Bonnie Gosse got sick, Mury was 5 years old and just starting kindergarten. Now, Mury was the one at risk and the oldest of her three children, Xander, was 4 and getting ready for school.
Over the summer of 2005 and into early fall, Mury couldn’t decide what to do. She began to get regular stomachaches. “I just couldn’t deal with it,” she said.
Death claimed her beloved Aunt Sandra in early November of that year, and in the weeks that followed Mury couldn’t fight off the anxiety. Terrible scenes rose in her dreams at night; during the day, she fought dizziness. A sense of doom was palpable. Still, she hadn’t gotten the genetic test.
“It hit me, what am I doing? I’ve got three little kids. I know how horrible this cancer is,” said Mury, 38 at the time. She made an appointment with a genetics counselor at a Massachusetts hospital.
The test results confirmed the women’s worst fears: All three surviving sisters and their deceased sister’s daughters had the genetic mutation, which also significantly raises the risk of breast cancer.
Green got the call from Evanston Hospital four days before her sister died.
“I can’t tell you how devastating it is to know you have this awful, deadly disease in your family and now it could kill your children or your grandchildren or your sisters,” said Green, her large eyes glistening with emotion. “It’s like your whole world falls apart.”
In Chicago and Denver, doctors outlined a grim scenario. For unknown reasons, women with the mutation have a higher risk of contracting hereditary diffuse stomach cancer than men (83 percent vs. 67 percent).
That didn’t explain why all the men in McNamara’s extended family would test negative for the genetic aberration. “We think that was random,” said Weissman, the genetics counselor.
(The family’s youngest generation has yet to be tested for the mutation, partly because their parents feel they should have the chance to decide if they want to take this step and partly because stomach surgery isn’t recommended until after adolescence.)
Because existing screening methods aren’t very good at detecting the disease in its early stages, the best preventive measure available is total prophylactic gastrectomy—the removal of a patient’s stomach.
In surgery, the patient’s esophagus is attached directly to the intestines, affecting how and what she eats every day for the rest of her life.
Little long-term data exists about the consequences of this difficult surgery. Mostly, it’s been performed on older cancer patients near the end of their lives. In late 2005, physicians in Chicago and Colorado hadn’t tried the surgery on patients with the family’s type of cancer.
The sisters in the older generation each weighed her choices. Bulow, a soft-spoken children’s book buyer, quickly realized she couldn’t live with the threat of the disease and elected to go ahead with surgery. “I didn’t feel I had any choice,” she said.
Green and Lassy decided against it. “I thought, I’m 69, I have a good lifestyle, I don’t want to change it,” said Green, an active retiree who loves to work out and ride her bike.
Lassy said she spoke with half a dozen people who’d had stomach-removal surgery. Some had adapted well; others were having a hard time.
Lassy elected to get be screened for cancer every six months. “I didn’t think I would do well living without a stomach,” she said.
Hardest for the sisters was facing the possibility they had conveyed the cancer threat to the next generation.
Green put off the discussion until Christmas 2005, when her three adult children were in the kitchen after the family had opened presents and shared dinner. “I have to tell you, I have that gene that killed Sandra,” she remembers announcing.
For her daughter Laura Ciezadlo, it was bad enough to get the awful news on the holiday. But, she said, for her mother to wait almost two months to disclose her test results, that was worse.
Ciezadlo, a brisk, efficient woman, immediately arranged to be tested at Evanston Hospital. The outcome she hadn’t wanted to confront arrived when Weissman called her in for the results.
“The wind gets knocked out of you,” she said. “I just put my head down and wept . . . and I desperately wanted someone to tell me what I needed to do.” Her own daughters were 5 months and 2 years old at the time.
“You wonder, what if I wait five years—will they come up with a cure for this cancer? Will they develop better surveillance methods? You think, ‘My mom is nearly 70 and she’s OK.’ Is there some kind of offsetting gene or protein in our family that’s protective?”
With her husband, Ciezadlo spent the next two months doing research and consulting with medical experts in Chicago and elsewhere.
Gradually, the family moved from denial to acceptance. Mury was the first to schedule stomach surgery, at Massachusetts General Hospital in April.
“Thinking about our three kids and the implications of what could happen to me, I knew what I had to do,” she explained.
Julie Gosse, her sister, put off her own surgery at Northwestern Memorial Hospital until the fall, so she could help Mury through the operation first. Bulow, whose two children are adopted, and Ciezadlo also decided to undergo the procedure.
Insurance covered the procedures. The family exchanged information through frequent phone calls and a family blog. “We went from near silence to a great coming together and sharing,” said Mury, who also reached out to other families with hereditary diffuse stomach cancer on the Internet.
“Just being there for each other and walking through all this with each other, we have such a connection now.”
None of the women says she regrets having the surgery. But the relatives agree that adapting to living without a stomach was harder than they thought.
Eating becomes a regimented exercise rather than a pleasure, Ciezadlo explained. Every one to two hours, you sit down for a snack and then drink a halfhour later. Chewing is mandatory, at least 25 times every bite, to make digestion easier.
“Frankly, you never want to eat again,” Ciezadlo said.
For her, a typical day starts with toast and peanut butter at 6:30 a.m. Two hours later comes oatmeal, followed by a half-cup of peanuts. Lunch is typically chicken and chips, followed in the afternoon by peanuts and a granola bar. Dinner is usually a hamburger or more chicken and cooked vegetables, with a handful of Teddy Grahams before bed.
There is a lot of physical discomfort, especially at the start. Gas pains and intestinal problems are common. At night, Ciezadlo sleeps on a wedge pillow elevated at 30 degrees to keep digestive fluids from surging back into her esophagus.
Bulow has had complications that sent her back to the hospital and is still trying to recover her strength.
Mury dropped 17 pounds off her already slender frame and was weak for a long time, but she was lucky. Doctors discovered
a cancer nodule in her stomach, a sign she may have warded off disaster just in time.
Psychologically, it was hard to give up activities Mury had shared with her husband, such as rock climbing and weightlifting. Depression and anxiety flooded back in as her body began to recover and she faced what had happened.
That meant confronting her mother’s untimely death again and all she had lost. “It had always been a mystery, what happened to my mom,” Mury said.
“You feel grateful that the puzzle finally has been figured out. But also, a lot of sadness.”
“I had always feared that I would die young of cancer,” she added. “It was such a relief to think ‘I don’t have to.’ ”
She’s not the only one mulling over the matter. The other day, Mury said, her daughter Jasmine, now 5, brought up the subject out of the blue. “Mommy, I’m really sorry your mommy died. She didn’t get to the hospital in time to get her owie out, did she?” the girl asked.
“Yes, that’s what happened,” Mury remembered responding. “But things are different with me. They found my owie, and I’m just fine.”
jegraham@tribune.com
Genetic testing leads to ethical minefield
By Judith Graham
Tribune staff reporter
As genetic tests multiply and become widely available, more people face a vexing question:
If I discover I have a genetic mutation linked to a serious illness, am I obliged to tell family members who share my DNA?
Some experts see genetic information as an individual’s possession, akin to property, that should remain under his or her control. Others think it’s more like a joint bank account with multiple signers, and each party— family members with a common genetic heritage— should have access.
Legally, the consensus is that there is no obligation to disclose. If you keep test results to yourself and a relative gets cancer you didn’t cause it and you are not responsible, said Sonia Suter, a professor of law at George Washington University.
From a moral perspective, though, the picture is murkier. People have the right to keep medical history private, but bioethicists, genetics counselors and physicians say patients probably should inform family members in case of a genetic illness that can be prevented or treated.
Several caveats apply, experts suggest. The chance of a relative having a similar mutation— in medical jargon, the penetration rate—should be high. The mutation should be strongly linked to a serious illness. And the genetic test should be reliable.
The downsides of telling also should be considered. “A lot of people, when told they’re at risk, feel they have a time bomb ticking away inside them,” said Lori Andrews, director of the Institute for Science, Law and Technology at Chicago-Kent College of Law. “They may prefer not to know.”
Someone who tests positive could face discrimination when applying for health or life insurance. Family relationships can be altered deeply when a genetic problem comes to light. Those family members who have the vulnerability can end up feeling stigmatized or “defective,” Andrews said.
Published in the Chicago Tribune December 7, 2007
