JOHNSTON, Iowa — At family reunions, there was always a reminder of the danger that lurked in their lives.
The Steffensens could see or hear it every time they gathered around the picnic table or passed the turkey at a holiday dinner — a grim bond that revealed itself in many ways.
It was in the stitches in DeVere’s chest.
It was in Elayne’s shortness of breath.
And it was in Don’s pacemaker and prescriptions.
“We knew we all had a problem,” Don Steffensen says. “It was just a matter of looking around the table and seeing who would be next.”
The problem was heart disease and at one time or another, it had landed most of the 11 brothers and sisters in the hospital, in surgery, or in some cases, on the brink of death. The Steffensens comforted each other, but also managed to tease each other about their shared misery.
But it wasn’t until recently that the Iowa farm family discovered they had more in common than they had ever imagined.
And when they found out exactly what it was, their troubled hearts would yield something more — a medical milestone.
Searching for a reason
It all began with Don Steffensen’s routine visit to the Cleveland Clinic.
The retired pharmacist had traveled from his Iowa home almost two years ago to check on his pacemaker when he heard the clinic was looking for large families to study for heart research.
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“We didn’t do an awful lot to take care of ourselves, so the barn door was closed for us,” says Steffensen, who nearly died from a heart attack while duck hunting more than a decade ago.
But there were dozens of other reasons to participate: sons and daughters and grandchildren, scattered across the country.
If scientists could find why there was so much heart disease in one family, he figured, it just might save lives.
The older Steffensens seemed like prime candidates for heart trouble.
They grew up on a farm outside the hamlet of Buffalo Center, just south of the Minnesota border at a time long before granola and oatmeal replaced bacon and eggs at the breakfast table.
They worked hard, and ate heartily.
“We didn’t skimp when it came to the table,” says Don Steffensen, who at age 74, still has barely a trace of gray in his auburn hair. “When I first got married my wife said, ’Do all the Steffensens put bread on their butter?’“
So at the family’s August reunions, it was no surprise to see expanding waistlines or share stories about clogged arteries and bypass surgery. There seemed a simple explanation: “We thought maybe it was due to our way of living,” he says.
But now, there was a chance to learn more.
Test yourselfSteffensen called his brothers and sisters — an accountant, a librarian, farmers — enlisting them in the research. “At first some of them were a little skeptical — they wanted to know how far this was going to go,” he says.
There were questions about insurance premiums and whether the findings, if made public, could jeopardize the jobs of some of the younger generation.
Some relatives wouldn’t participate, not wanting to know whether they had a heart attack gene they could pass on to their children.
But others, including Marvin, who at age 66 is the baby of six Steffensen boys, had no hesitation.
“I’m an accountant,” he says. “I deal with the facts all the time. I wanted to know what I needed to know.”
He had personal reasons, too: He already had heart problems and lived with the agonizing boyhood memory of witnessing his 45-year-old father, Arthur, keel over and die before his eyes.
One by one, the nine surviving children — two brothers had died from cancer — agreed to have their blood taken for DNA research and provide medical histories.
So did scores of their sons and daughters along with some of their children — three generations of a family that traces its roots to Denmark.
For Dr. Eric Topol, chairman of the cardiovascular medicine department at the Cleveland Clinic, they were the perfect test case: survivors of heart attacks — most occurring when they were in their late 50s and early 60s — with detailed medical records.
It was time to get to work.
A common link
For two years, a team of 45 researchers at the clinic became detectives, exploring the mysteries of one family’s hearts.
They analyzed DNA from dozens of Steffensens, ranging from their teens to their 80s and scanned the entire human genome of select members of the family.
Poring over billions of bits of genetic material, they were searching for a common link among those family members with heart disease.
“Picture a haystack with 3.1 billion needles,” Topol says. “Then find the 21 needles that are missing.”
That’s what they did.
Eventually, the researchers detected one hot spot, a place on one chromosome where 21 base pairs of genetic coding letters were missing in eight of the nine Steffensen brothers and sisters — all of whom had heart attacks or heart disease.
How strokes happenOne lucky sister, Betty Mitchell, was the exception. No gene flaw, no heart problems.
“I don’t know how I was spared,” she says. “I was very relieved.”
The discovery of this flaw, Topol says, was a breakthrough — single genes had been linked with other diseases, such as cystic fibrosis, but this was the first one confirmed as a cause of heart attacks.
“That was definitely the eureka moment,” he says. “It has taught us a lot about heart disease we never knew.”
For the Steffensens, it offers a glimpse into the future.
Looking into the future
“Never before have we had a situation where we knew someone had a gene that was going to induce a heart attack or heart disease with absolute certainty,” Topol says. “It’s no longer a question of if, it’s a question of when.”
Topol says of about 100 Steffensens studied, more than half have the flawed gene, which causes the heart’s artery walls to weaken so that in later years when plaque builds up, heart attacks become more likely.
It usually takes decades for arteries to crack, and now, it might be possible to delay, even prevent heart problems.
“If we get to people who are now in their teens and 20s, can we pre-empt the disease from ever occurring? We hope so,” Topol says. “At least we should be able to forestall this process for decades. Instead of having a heart attack at 50, maybe we can push it to 70, 80 or 90.”
For now, though, having the gene, he says, “is a wake-up call like none other” — a red-letter ultimatum for healthy eating and exercise. Cholesterol-lowering statin drugs or aspirin are recommended, too.
The research, reported last fall in the journal Science, also has significance far beyond this one family.
Topol says doctors at the clinic already have detected a different kind of flaw in the same gene in some other heart attack victims — a discovery that would have been impossible without the work on Steffensens.
And, he says, this research could pave the way for finding other genes responsible for heart disease, which could ultimately help many of more than 700,000 people who die from the illness each year.
“You never know until you fast forward,” he says. “But this is a first major step.”
More genetic mutations found
Researchers in Iceland recently found another genetic mutation that increases the risk of heart attack.
And Topol and other clinic doctors are working with 60 other families to find heart attack genes as well as the government of Denmark, where Steffensen is a common name.
The task: To find out if this flawed gene exists there — some 4,500 miles away.
Mark Steffensen wasn’t surprised to hear the news.
“People say, ’Was it a life-changing experience?’ They’re disappointed to hear that it isn’t.”
For the 37-year New York lawyer, there was no sense of doom after he heard he had inherited the heart attack gene from his father, Don.
“I only worry about things I can control — and this is not even on the chart,” he says. “I can control what I put in my mouth. I can control what I do with my body. But I cannot control the genes I was dealt.”
He says he might exercise more — he already runs and swims to stay trim — but won’t give up steak, just as “if they said I didn’t have it, I wouldn’t have said fettucine alfredo for the rest of my life.”
For Kim Coan, Marvin’s 42-year-old daughter, the word that she carries the gene was more alarming.
Struggling with high blood pressure and her weight, Coan says she immediately scheduled a doctor’s appointment and started visiting the gym more frequently.
“I guess it’s time to suck it up and say, ’This is my family history. I might as well do the best I can.’ I have a 17-year-old daughter ... I want to be around and see her get married and see my grandkids and that means taking care of myself.”
Family finds peace
For the older Steffensens, there’s a sense of peace in knowing their family contributed something to science — and to their children and grandchildren.
“I think it’s really a godsend for all of us,” says Don Steffensen, the man who started it all.
Elayne Yates, his 79-year-old sister and also a heart attack survivor, thinks this research is just a beginning.
“Sooner or later, they’ll find a medicine ... or some kind of cure,” she says. “It’s not going it help us much, but for the second and third generations, this will affect the way they live.”
And the brothers and sisters will have done their part.
“We’re like pioneers, opening the road,” she says. “We all feel really good about that.”
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