Family confronts its genetic heritage

CHICAGO - 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.

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, Ill., 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, too, wanted the truth.

"I was hoping I wouldn't have it; that I'd be fine," said Martha Lassy, who lives in Geneva, Ill., 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, Ill., 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's brother Jeff, of the far west suburbs.

"I was completely devastated," said Aimee Mury, Julie's sister, who lives outside Boston.

History repeats

The parallels with the past were frightening. When Mury's mom got sick, she was 5 years old and just starting kindergarten. Now, the oldest of Mury's three children, Xander, was 4 and getting ready for school.

(The youngest generation has yet to be tested for the mutation, partly because they should have the chance to decide and in part because the stomach surgery is not recommended until the teen years are past.)

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, 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, yet 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 their risk of breast cancer.

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 doesn't explain why all the men in McNamara's extended family would test negative for the genetic aberration, however. "We think that was random," said Weissman, the genetics counselor.

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.

The person's esophagus is then surgically attached directly to her 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. At the time of the discussions, 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.

Next generationHardest 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 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.

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."

No regretsNone of the women says she regrets having the surgery. But it was harder than they thought, adapting to living without a stomach, the relatives agree.

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 half an hour later. Chewing is mandatory, at least 25 times every bite, to make digestion easier.

"Frankly, you never want to eat again," Ciezadlo said.

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. Just 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."