Dustin Huber

Look at Dustin Huber, and you see an engaging, active 18-year-old. An Eagle Scout, Dustin loves the outdoors and often can be found waterskiing, kneeboarding and snowboarding. He also plays guitar in a Christian rock band that performs in and around his hometown of Beulah, N.D.

What you can't see when you look at Dustin is the defibrillator implanted in his chest. You won't be able to detect the rare, life-threatening heart condition he carries with him, either, the same heart defect that took the life of his older brother, Shannon, at age 17.

At the time, Shannon's death was a mystery. His mother's search for answers led to Mayo Clinic where physicians pinpointed the culprit, long QT syndrome (LQTS). They also identified LQTS in Dustin and in his mom, Michelle Tipton. The diagnosis gave Michelle peace about Shannon's death. It also fired in her a drive to do all she can to raise awareness about long QT syndrome, as well as to help ensure that Dustin enjoys an active, healthy life, despite the condition.

A quest for answers

On March 25, 1999, Michelle received a call at work from Shannon's school. Her son hadn't made it there that day. When Michelle's father checked on him, he found Shannon dead in his bedroom. The family's world turned upside down.

"No one could tell us what happened," says Michelle. "Rumors started to fly in our small town that it was a drug overdose or suicide. But the autopsy reports showed no evidence of drugs and no apparent reason for cardiac arrest."

The lack of an explanation didn't fit what Michelle had learned in her years as an emergency medical technician (EMT). "I had been taught that you would know if a patient was sick enough to die," she says. "At age 17, 6 feet 1 inch tall and 190 pounds, Shannon seemed perfectly healthy. We had annual physicals; we ate balanced meals. What happened?"

Several months later, Michelle discovered a valuable clue. She found a copy of Shannon's sports physical report conducted a year before his death. Shannon had checked "yes" to the following questions: "Do you experience dizziness during and after exercise?" "Do you experience chest pain during and after exercise?" "Has anyone in your family died of heart problems or sudden death before age 50?" "Do you experience trouble breathing during and after activity?"

That form prompted Michelle to call her doctor, who ordered an electrocardiogram (ECG) be done on Dustin's heart. The results were abnormal and required a closer look by specialists.

A life-changing diagnosis

In August, Michelle and Dustin traveled to Mayo Clinic in Rochester, Minn., where the cardiologists ran more tests. They also discussed the family's health history, which included heart palpitations in Michelle's sister, as well as several incidents of fainting in both Michelle and her mother. The physicians referred Dustin and Michelle to Mayo's Long QT Syndrome Clinic.

There Michelle and Dustin met Michael Ackerman, M.D., Ph.D., the clinic's director and head of Mayo's Sudden Death Genomics Laboratory. He drew blood from them for genetic testing to detect the presence of defective ion channels in the heart, an indicator of LQTS. He also conducted a series of tests specifically for the condition.

As a result of the tests, both Dustin and his mother were diagnosed with LQTS. They were put on medication, beta-blockers, and were told not to participate in competitive sports, never to swim alone, and to try to always have someone with them who knew CPR.

"I didn't know what to think when we were diagnosed," says Michelle. "At the time, I couldn't find any information about this disease. It was hard to know what it meant for us. But, Dr. Ackerman was so compassionate and very in tune with the fact that we were dealing with a tragedy."

In February 2000, Dr. Ackerman and his colleagues discovered a defect in the KVLQT1 gene in Dustin and Michelle. In addition, a molecular autopsy of his heart tissue confirmed Shannon had the same genetic defect. This meant the family had type 1 LQTS (LQT1), a type of long QT syndrome that is usually triggered by exertion. But there are exceptions, tragically illustrated by Shannon's death while he was resting.

Although beta-blockers are extremely effective for LQT1, additional testing made Dr. Ackerman concerned that the beta-blocker therapy may not provide Michelle and Dustin with enough protection against cardiac arrest. Both received implanted cardioverter defibrillators (ICDs) in August 2000. The devices can automatically sense life-threatening heart rhythms and deliver electrical therapy directly to the heart.

A sense of purpose

"Since Shannon's death, everything has changed for us," says Michelle. "But, I firmly believe that tragedies don't just happen. Through the research Dr. Ackerman has done — some of which involved Shannon's molecular autopsy and our participation in new tests and studies — our family's experience may save many lives. Knowing that gives me some peace of mind, some comfort."

Although they occasionally return to Mayo Clinic for follow-up care, Michelle and Dustin are moving on with their lives. They strive to enjoy themselves as much as possible. They also are dedicated to educating others about long QT syndrome.

"I don't think about it a lot," says Dustin of his heart condition. "I can do pretty much what I want since the implant of the ICD. But, I do think it's important that people are aware of long QT syndrome, that they know what it is and what it can do."

To that end, Dustin successfully worked to have an automated external defibrillator (AED) made available in his high school. The device can provide immediate, lifesaving treatment to an individual experiencing a heart attack. He and Michelle also have been speakers for Young ICD Connection, an annual conference for teens who have an implanted cardioverter defibrillator (ICD).

In addition, Michelle owns a small business that helps companies develop public access defibrillation programs to make AEDs available in their workplaces. She teaches cardiopulmonary resuscitation (CPR), does AED training, speaks to groups about long QT syndrome and volunteers with the Cardiac Arrhythmias Research and Education Foundation.

"We want to keep doing everything we can," says Michelle. "Dr. Ackerman and Mayo Clinic are always there for us. I know I can contact him anytime, and we'll need to go back once in a while. But, I want Dustin to be successful in school and just have fun, too. I don't want long QT to stop us. We're just like everyone else that way: we want to live life to its fullest."