Traci Leopold's father was 53 when he died of colon cancer in 1994. He and his younger brother learned they had the disease within two weeks of each other. Leopold's grandmother had colon and uterine cancer, but it wasn't something the family discussed much.
Traci Leopold's father was 53 when he died of colon cancer in 1994. He and his younger brother learned they had the disease within two weeks of each other.
Leopold's grandmother had colon and uterine cancer, but it wasn't something the family discussed much.
Leopold was 29 when she began to experience pain in her abdomen. Eventually - and in large part because she pushed her family doctor to run tests - she learned that she had colon cancer.
She was dating her future husband, Dave, at the time, and trying to find a job in marketing. Suddenly, she faced surgery, chemotherapy and a recommended genetic test that could explain the burden of disease on her family.
That test pinpointed Lynch syndrome, a genetic predisposition that increases the risk of colon cancer by as much as 85 percent and endometrial cancer by as much as 60 percent. It also increases the risk of several other cancers, including stomach.
Identifying a single family member as a carrier can save the lives of dozens more if families agree to genetic testing and go in for early screening, said Heather Hampel, Leopold's genetic counselor.
After a positive test, there's a lot for a patient to take in: your own immediate health; your long-term decisions; and the weight of this information on relatives, including your children.
For Leopold, the news did not come as an enormous surprise. After losing her dad at such a young age and knowing her uncle had the same disease, she suspected that something genetic was at play.
Leopold, who now is 39 and lives in Delaware, was the first in her family to be tested. She told everybody she could think of about the findings and asked them to spread the word to distant relatives.
There was some good news. Colon cancer, the most common disease to afflict Lynch carriers, is preventable. Early, frequent colonoscopies mean that doctors can find and remove polyps before they lead to widespread disease. And if found early enough, cancers can be treated and cured.A personal choice
Some family members got tested. Others didn't. Leopold said one cousin won't be tested but does have colonoscopies. None of her uncle's four grown daughters, who all carry a 50 percent risk, has been tested, as far as Leopold knows.
"It's a personal choice. Some of them just don't want to know," she said. "I'm not a pushy one. I just gave them any information they wanted.
"I wouldn't want a dark cloud looming over my head," Leopold said. Her younger sister, Lori Kohler of Powell, learned that she wasn't a Lynch carrier.
Kohler said she didn't hesitate to get tested after losing her father. She was angry that her sister had to go through what she did but relieved that the family had an explanation that could help protect future generations. An aunt and uncle also learned they were not carriers.
Leopold and her husband now are weighing when to test their sons, 5-year-old Max and 3-year-old Evan. She said she's thinking about age 10. Carriers of a Lynch mutation typically are advised to begin colonoscopies 10 years before the youngest relative got a cancer diagnosis. One of Leopold's distant cousins developed colon cancer at 19.
Before she had the boys, Leopold and her husband had to face the prospect of having children with an elevated risk of cancer.
"I just felt that if I didn't fulfill some of the dreams I've always had, then I'm letting the cancer win," Leopold said, wiping away tears. "It'll be heartbreaking if one or both of the kids have it."At the same time, she could have passed along some terrific genes as well, Leopold said. Her grandmother is 101.
Some women with Lynch syndrome have hysterectomies; Leopold is considering that now. In the meantime, she has regular ultrasounds to look at her uterus. She has been having colonoscopies every other year but plans to have them annually from now on.
"I don't think because of this I'll live a short life. I think my dad did because he didn't know," she said.Proactive efforts
Hampel is part of a research team at Ohio State University's Wexner Medical that has studied the syndrome and has pushed to have colon cancer patients tested for the mutation.
As genetic predispositions go, it is common among colon cancer patients - on the order of 1 in 35. Four major genes have been linked to Lynch syndrome mutations.
Hampel emphasized a need for better understanding of genetic risk and more-prompt referral to counselors in cases that warrant it. Rather than wait for a referral from an oncologist, her team started seeking out colon cancer patients. The approach has been a success, she said. "They want to do it, and they want to do it for their kids."
Counselors help patients fill out detailed family trees and advise them on whether genetic tests are likely to benefit them. If they do go for testing, counselors tell them what to expect and what their options are, depending on the results. And they can help them reach other family members who could benefit from the information.Power of prevention
People with known genetic disorders have a great deal of power. Rather than waiting and wondering what might happen, they can make decisions that guide their lives. This comes up often in prenatal genetic counseling, including when parents know they carry something that might hurt their child, such as a risk for cystic fibrosis or muscular dystrophy.
David Sharpe, a genetic counselor at Riverside Methodist Hospital, recalled one couple who learned that a child they eventually lost had a rare, lethal type of brittle bone disease called osteogenesis imperfecta.
Sharpe initially thought the genetic mutation was something more common and unlikely to affect any future children the couple had. But those tests didn't pan out. Eventually, after months of looking for an answer, the couple learned that each carries a rare recessive gene that gives any of their children a 25 percent risk of the same problem.
Now, that couple could opt for in vitro fertilization and have the fertilized egg tested before implantation, Sharpe said. "It took a long time to give them a diagnosis, but it helped them out."
In cancer genetics, the most well-known mutations cause breast and ovarian cancer and affect about 5 percent to 10 percent of breast-cancer patients. One in 8 women will develop the disease in her lifetime, but women with these mutations have a higher risk.
And this knowledge prompts many women to decide to have their breasts and ovaries removed as a precaution, even at a young age. Others opt for increased screening.In knowledge, support
Michelle Winograd was 23 and a recent college graduate when she discovered she carried a mutation called BRCA1. It was passed down from her father, who had been tested because of a family history of breast cancer and because he was concerned about his daughters. Winograd's sister tested negative for the mutation.
Winograd didn't hesitate to get the genetic test, because she agreed with her father's philosophy. "I believe knowledge is power."She also had been recently reminded of how devastating the disease is when it claimed her cousin, a mother of four.
Winograd, who grew up in Bexley and now lives in suburban Cleveland, opted for breast exams every six months, including ultrasounds and MRIs, for five years. "It was very daunting, and it was always hanging over my head - what were they going to find?"
In 2008, she had a prophylactic double mastectomy. She was married and didn't have children, although she planned to. She wanted to breast feed but did what she thought was best for her and for any future children.
"My biggest thing was, I wanted to be there for my child," said Winograd, who now has a 2-year-old daughter.
Winograd said she will consider having her ovaries removed when she reaches her mid- to late 30s.Part of what has helped her navigate all of this, and what has helped support her, is the community of other women she has met who also have a genetic predisposition to breast cancer.
She belongs to Bright Pink, a Chicago nonprofit organization that was started by another Bexley native, Lindsay Avner. Nationwide, the number of such groups has grown as more people learn about their genetics and seek support.
Bright Pink focuses on younger women and emphasizes empowerment and enjoying life, Winograd said. Through the group, she met "PinkPal" Betsy Coy, who also lives in suburban Cleveland.
"Bright Pink is not 'Ho-hum, poor me, I'm at such a high risk,'" said Coy, 37, who has had her breasts, ovaries and fallopian tubes removed because of a BRCA1 mutation. Her sister also tested positive and opted for prophylactic surgery.
"It's not a burden to know it. As soon as I knew and I could take control of it, a huge weight was lifted off my shoulders," Coy said.In grief, a reminder
Scott Harman was in his third year at Ohio State when he died in his off-campus apartment in September. The 20-year-old had known since sixth grade that he had a genetic heart condition called hypertrophic cardiomyopathy, which thickens the heart muscle and can lead to sudden death. His doctor knew that Scott's family members, including his father, had the condition and was on the lookout for signs of the disease.
Scott was a passionate kid who made people smile and had a gift for sports of all kinds, said his father, Mark Harman of suburban Dayton. The genetic disease, which also killed Mr. Harman's mother in 1979, shaped what Scott could do, limiting him to kicking in football and playing goalie in soccer. And it kept him off the basketball court.
The irony of his death, Mr. Harman said, is that "if he'd been playing a sport and this happened on the field, he'd be alive today." Sideline defibrillators have become common at sporting events.
"He was sitting in his room."
Athletes with genetic heart disease who die midgame become big news. But there are far more deaths such as Scott's, said Lisa Salberg, the founder and CEO of the Hypertrophic Cardiomyopathy Association.
The prospect of losing a child to the disease during a game is a challenge for many parents. Some experts say to let them do what they want; others advise against strenuous activity, she said.
It becomes a hard choice for parents of children who have a genetic predisposition but no known heart problems, Salberg said. They could live their entire lives with no heart trouble.
Doctors, including one of the most-respected specialists in the nation, had not recommended an implantable defibrillator for Scott, which some patients with the disease get, Mr. Harman said. "I don't have any idea what we could have done differently."
Knowing about his disease could not save Scott, but it has helped others in the family, including Mr. Harman's brother. He was checked out at the urging of their sister Susan Shapiro and was encouraged to get an implantable defibrillator as quickly as possible.
As she mourns her nephew, Shapiro has been reminding her family of the risks and encouraging them to get genetic tests and seek care from specialists. She had genetic testing herself and has a defibrillator.
"I have many family members who haven't followed up appropriately," said Shapiro, who lives in New Jersey. "I sent a letter... to everyone saying, 'You've got to go to a specialist and consider genetic testing.'
"I know at least one of them already is going for genetic testing."
Some are reticent. "I think it boils down to fear. It has caused trauma in our family, and pain," she said. "It's not something that you go into lightly."