You may have inherited your mom’s freckles, or your grandfather’s eyes—but do you know what else was passed down through the generations that you can’t see?
Before you have a child, look closely at your family health history. It could be the best move you ever made—for yourself, and future children.
Lisa Salberg’s decision to start a family was not an easy one. She suffered from a potentially deadly heart condition which would make carrying a child dangerous for her. But the risks of pregnancy extended beyond her own health. Even if she was able to get pregnant and carry a child safely, her cardiologist and genetic counselor had warned her that her children would have a 50-50 chance of inheriting her hypertrophic cardiomyopathy.
Salberg did ultimately decide to get pregnant, and is now mom to 12-year-old Rebecca. “The first thing I thought when I found out I was pregnant was, ‘Did I give this kid the disease?’” says the Rockaway Township, New Jersey, resident. “The second thing I thought was, ‘I have a pretty good life, and I want to share that with a child.’”
In fact, it turned out that her daughter Rebecca does carry the disease. But because Salberg was aware of her own family health history, doctors knew to monitor Rebecca from birth, and test and treat her early on.
Salberg was not the first one in her family to suffer from a heart condition. Her family’s extensive record of heart problems on her father’s side was well known, and can be traced back to her grandfather’s sudden death in 1953, at the age of 43. But risks from her mother’s side of the family hadn’t been talked about . . . until she asked.
“I found out that coronary artery disease is rampant on her side of the family,” says Salberg. “Here my daughter and I are both implanted with a defibrillator for this one condition [hypertrophic cardiomyopathy], when coronary artery disease might be something we need to be just as concerned about.”
Salberg, now the founder and director of the Hypertrophic Cardiomyopathy Association, knows these types of conversations may be uncomfortable, but that it’s important to ask. “The more we share, the better off we are,” she says. “If we know what we are at risk of, and what our children are at risk of, we can deal with it.”
It’s In the Genes
There are thousands of genetic diseases—meaning a condition caused by an absent or defective gene—but not all of these are passed from one generation to the next. Sometimes gene defects occur because of environmental exposures, for instance. So even if you find something in your family history that seems alarming, it’s not necessarily cause for worry. “Down Syndrome is genetic, but it doesn’t usually run in a family—it’s caused by an extra chromosome,” says Cathy Wicklund, president of The National Society of Genetic Counselors, who explains that the defect usually happens at conception and isn’t something passed on by a parent.
Based on the history you provide, your family doctor, ob/gyn, or genetics counselor can help you determine a plan of action, especially when parenthood is looming on the horizon. “It really is best to get all of this worked out before pregnancy so you can address any risks,” advises Owen Phillips, M.D., director of reproductive genetics and professor of obstetrics and gynecology at The University of Tennessee, Memphis.
Specific populations are at a greater risk of carrying, and passing down, certain diseases. Some of the most common are autosomal recessive disorders, like sickle cell disease (African- Americans), cystic fibrosis (Caucasian), and Tay-Sachs (Ashkenazi Jewish). When both parents are carriers there is a 1 in 4 chance they will pass the disease on to their child. Usually, a simple blood test can determine if someone is a carrier.
{loadposition frboost} Because of her Jewish heritage, Dara Shlifka opted for genetic testing before she was even considering pregnancy. She participated in a program offered by the Jewish United Fund/Jewish Federation of Metropolitan Chicago: first a presentation about genetic diseases that are more prevalent in the Jewish population, then an opportunity for a blood test and a session with a genetic counselor.
“My mother found out she was a carrier of Tay-Sachs when she was pregnant with me,” says Shlifka, whose blood test revealed she did not carry the disease. “If I had been a carrier, and my husband had been a carrier, we may have decided to adopt instead.”
While Shlifka believes that her family-building plans would have been altered by different test results, that’s not true of everyone in the same circumstances. Dr. Phillips says most often this risk does not change a couple’s plans to conceive. “The couple can be reassured in this case that they have a 75 percent chance that the baby will be unaffected. Armed with the information, they can make decisions that are best for them.”
Become a Family History Super-Sleuth
If your family is shy about discussing personal topics, or your family tree is missing a few branches of data, you can still get the information you need. Some simple communication techniques and research skills can help you locate the facts you need to allow your doctor to accurately assess your health history.
Family reunions, holiday gatherings, and vacations are a great time to ask questions—several relatives working together may be able to jog one another’s memories and come up with the most accurate information. Or, if your family is scattered across the globe and doesn’t get together often, do a mass e-mailing and explain the information you’re trying to collect. Your relatives will benefit from your research, too.
“Tell your family why you’re asking these questions, and they’ll be more likely to open up,” says Wicklund. “Explain that you want to understand if there are any diseases in your background that could affect you or your future children.”
Start by talking with your parents, and work your way out to grandparents, aunts and uncles, cousins—even longtime friends of the family may be able to help. Ask specific questions like: Was the cause of grandma’s death confirmed? Did she see a doctor, and for what conditions? The more specific your questions are, the more likely it is that you’ll get helpful answers.
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