Getting to the root of health risks
Jean Fitzpatrick began compiling her family’s health history out of nothing more than an interest in having the past recorded. but when her adult daughter was diagnosed with a congenital heart rhythm disorder, Fitzpatrick discovered just how relevant a relative’s health information can be.
Thanks to the information she gleaned from talking with her mother and other relatives, Fitzpatrick uncovered other suspected cases of the disorder, called Long QT syndrome, in other family members, including her late sister, who died in her 20s while playing baseball. When the family went for genetic testing to look for a mutation associated with an inherited form of the disorder, they discovered that Fitzpatrick, her mother, granddaughter and another cousin also carried the gene.
Identification of Long QT syndrome is critical because it causes abnormalities in the heart’s electrical system that, left untreated, can lead to fainting, seizures or even sudden death.
“I think maybe because the family was so big and we had lost so many, I just needed to know for when mom is no longer around,” said Fitzpatrick, who lives in Wilmington. “I figure it had to be important at some point.”
With all the latest medical technology available, putting together a detailed family medical history can be an effective way to help guide health decisions. Knowing what health issues plagued your relatives can influence your own personal medical choices, such as whether to get a mammogram earlier than 40 because of a family history of breast cancer, adopting a healthier lifestyle to compensate for a genetic predisposition to type 2 diabetes or deciding whether to have children because of concerns about a specific birth defect.
“It warns us as to what we are at risk for,” said Dr. Emil Matarese, director of the St. Mary Primary Stroke Center in Langhorne. “We need to be warned ahead of time so we can protect ourselves. If we could identify known medical problems that run in the family, we can identify possible risks earlier.”
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Years ago, when most families lived near each other, it was easier to know about that uncle who had a heart attack at 45 or a cousin who struggled with addiction. Family health information was kept along with genealogy, jotted down and often stored in the family Bible or somewhere else for safekeeping, said Zohra Ali-Khan Catts, a genetic counselor with Christiana Care’s Helen F. Graham Cancer Center.
These days, with families so spread out, that information isn’t always as accessible.
“I’m surprised how many intelligent individuals have little knowledge of their family history and also lack the awareness [that] their family history is important for what they’re at risk of developing,” said Matarese, a volunteer with the American Heart Association.
But with more families keeping in touch on Facebook and via e-mail, it’s easier to retain that closeness. Going back even just three generations — and, when possible, including aunts, uncles and cousins on both sides of your family — can offer a wealth of health information for patients and their health care providers to consider.
“Until you write it out, you don’t see the trends,” said Ali-Khan Catts, who directs the statewide Ruth Ann Minner Family High Risk Cancer Registry. “More often than not, when people look at their family history on paper, they say, ‘I didn’t see it was that many people [with cancer].’ On paper, it looks so different. what you’re seeing is the whole big picture and not just the pieces.”
Being the family sleuth
Cancer clings to the branches of Joanne Deweese’s family tree. her mother, grandmother, aunt, uncle, son and several cousins have been diagnosed with the disease. she is a five-time survivor herself — two types of breast cancer, two types of skin cancer and colon cancer. Because of the heavy burden of the disease, Deweese has become the family’s medical historian in an attempt to make sure younger generations are aware of the risks they face and can act accordingly with preventive screenings.
Researching the family’s health history has meant doing a little digging, like finding out that the “female problems” her grandmother suffered from was really uterine cancer. in most cases, relatives are willing to talk about past health problems because they want to help the next generation. but some people are reticent about revealing too much — even to family members — for fear of having others know personal details of their health.
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“It’s a matter of finding the right person in the family to talk. not everybody wants to talk about it, but when it affects your children you want to know,” said Deweese, of Elkton, Md., who also is tracking polycystic kidney disease on her father’s side of the family.
In part because of Deweese’s sleuthing, doctors were able to determine a genetic link to the family’s history of colon cancer. Genetic testing confirmed that several family members have a gene that increases their risk of developing the disease. as a result, they will have to begin getting colonoscopies much earlier than what is usual, she said.
Family history can play a role in many conditions beyond cancer. they include high cholesterol, sleep apnea, Alzheimer’s disease and other types of dementia, osteoporosis and some types of mental illness. Ali-Khan Catts said genetic counselors at Christiana are starting a counseling program for cardiology patients who may be at risk for cardiac problems, such as clotting disorders.
While people can discover potential health problems to watch, they also can find out that their relatives are a lot healthier than they might have thought, particularly if they lived long lives despite unhealthy practices like smoking or eating fatty foods.
“We might realize we have some pretty good genes. Knowing we have an uncle who lived a long life in spite of smoking gives us clues we might be protected. it doesn’t mean we should do the same thing,” Ali-Khan Catts said. “It’s putting that connection in people’s minds.”
Preventive strategies
When it comes to developing a family medical history, it’s important to look for health problems that affected relatives in their youth and early middle age, said Caroline Lieber, director of genetic counseling at Sarah Lawrence College, in Bronxville, N.Y. When problems begin that early, it can signify a genetic component.
Fitzpatrick said she always had questions about the death of her sister, who was in her 20s when she collapsed after running to first base. Long QT syndrome, in retrospect, seems to make sense as a possible cause because of the sudden nature of her death. Because of the genetic link in the family, she has given copies of relevant health information to her relatives.
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“It’s so important, especially for teenagers,” said Fitzpatrick, who is now taking medication as a result of her diagnosis. “I’ve passed on copies to my doctors to see if they can glean anything from it.”
Sharing family health information is key because doctors can use it to develop preventive strategies that can reduce a patient’s genetic risk, said Dr. Saralyn mark, a Washington, D.C., women’s health specialist and BeWell.com expert.
For example, about 70 percent of osteoporosis is inherited, mark said, so if a woman with a family history of the disease knows her risk, she can take precautions, such as staying physically active, getting bone scans and taking calcium supplements to improve bone strength.
Nanci Mayer-Mihalski became interested in chronicling her family’s health history about 13 years ago, after her mother was diagnosed with breast cancer at age 66. soon after, her then 37-year-old sister was diagnosed with a more advanced stage of the disease. three years later, it was Mayer-Mihalski’s turn.
Genetic testing offered no link, but the prospect of another woman in the family being diagnosed made them concerned for the future. so Mayer-Mihalski began tracking everyone’s health history, including their diagnosis, treatment and additional medical problems. Cancer is a big concern, especially since her father was diagnosed with prostate cancer and her husband, a nonsmoker, was found to have lung cancer.
“I have a folder with scribbles that I keep track of everyone in the family,” said Mayer-Mihalski, 54, of Hockessin. “As people get older, it’s important information to have.”
Knowing your family’s health history won’t prevent you from following in their genetic footsteps, but it can help you get a jumpstart at prevention, Matarese said.
“If a particular medical problem runs in the family and a doctor is warned, if we catch it early, maybe we can reverse them or offer medication, diets and therapy to prevent them from falling into the same category,”
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