Kim Thomas

For Kim Thomas, a physical education teacher who loves to work out, being active is a central part of her life. The same goes for her three children, who enjoy sports of all kinds.

That all changed after they were diagnosed with a potentially fatal heart condition. At least that's how it appeared to Kim, who thought she and her kids would have to change their active ways, permanently.

But, through a unique program at Mayo Clinic, Kim and her family were able to get the information they needed to make informed choices about their health, and the chance to resume their fast-paced lives.

Uncovering a problem

Kim's family had been active for many years without any sign of problems. Then in 1996, Kim's mother died in her sleep at the age of 55. The cause of her death was not found, but Kim was concerned and determined to learn more.

"It really bothered me that she died so young," says Kim. "I wanted to find out what happened."

She gathered her mother's medical records and reviewed them with a physician. After finding suspicious results in some of the cardiac tests, the physician recommended Kim have an electrocardiogram (ECG) to study her own heart's rhythm.

The results indicated there was a problem. Kim, who lives in Bemidji, Minn., was referred to a cardiologist in Fargo, N.D. The cardiologist diagnosed long QT syndrome, a rare and sometimes fatal disorder of the heart's electrical system. Because the condition often is inherited, Kim's children also were tested. The results were the same; all three had long QT syndrome.

The physician in Fargo referred the family to Mayo Clinic in Rochester, Minn., where Michael Ackerman, M.D., Ph.D., directs the Long QT Syndrome Clinic. This clinic is one of the few places in the United States where the focus is on both treatment and research of long QT syndrome and other conditions that can cause sudden death.

Learning more

"When we first came to Mayo, they thought our highest risk of death was when we had bursts of adrenaline in our bodies," says Kim. She and her children were put on beta-blockers, a type of medication that slows the heart rate and helps prevent the dangerously fast heartbeats that can occur in times of stress, fear or exertion. The medication brought the Thomases' previously active lives to a standstill.

"Because of the medication, we couldn't get our heart rates up to the point we needed to be really active," says Kim. "My kids had to quit their sports. I had to quit all of my workouts and cut back on activity in my classes. We just physically couldn't do it."

The family felt the sacrifice to be worth it if the medication kept their risk of heart trouble at bay.

But advances in genetic testing soon shed new light on the family's medical condition and pointed to an alternate treatment that would allow them to set their own pace once again.

By obtaining blood samples, isolating the genetic materials and searching for a patient's genetic "misspellings," or defects, researchers now can learn what's causing a specific type of long QT syndrome.

"Researchers have made connections about what genetic flavor a person is and how that individual's condition will show itself," says Dr. Ackerman. "In the Thomases' case, you are more apt to have an event occur during rest or sleep rather than during a game of basketball."

"When they did the genetic testing and discovered that the gene mutation we have is not connected to adrenaline, but to sleep, it made more sense, because that's how I lost my mom," says Kim.

Getting back in the game

Armed with this new information, Dr. Ackerman took Kim and her children off the beta-blockers and instead offered the only alternative for the family's specific type of long QT syndrome: implanting a defibrillator that would monitor for and, if necessary, stop a potentially fatal heart rhythm. That knowledge freed the family to resume many of their activities.

"It has been wonderful since we've had the defibrillators implanted. The kids are back into tennis and gymnastics. I'm working out again," says Kim. "Had we not had the genetic testing, we wouldn't have been given this chance of enjoying an active life."

A more sobering benefit also is clear to Kim. "Had it not been for genetic research and the care we're receiving at Mayo Clinic, my children and I would not know what really causes our condition," she says. "Other families have lost children before they found out what they were dealing with. We didn't. We were fortunate."

With only two follow-up visits to Mayo Clinic required each year, Kim and her kids have returned to their normal routines. They hold out hope, though, that researchers will continue learning more about long QT syndrome.

"The defibrillators are what we'll have for a while, until the research finds something better for us," Kim says.