Celebrating Life
Claire Godfrey survived a cardiac arrest and was diagnosed with Long QT Syndrome at the age of 15. Today, she is re-adjusting to adolescent life with the syndrome.

By Joan Bonazza

This year’s holidays will be particularly significant for Beth and Rick Godfrey. Last December, they nearly lost their youngest daughter to a dysfunctional heart rhythm they didn’t even know she had.

Claire, a seemingly healthy 15-year-old freshman at LaFollette High School, was an active member of the Madison Youth Choir and a dedicated and competitive Trinity Academy Irish dancer. But on the morning of December 14, Claire was getting ready for school when she collapsed on the bathroom floor. She had fallen against the door, and her father, who heard a strange noise and came running, couldn’tit completely. He could see that Claire was in trouble and yelled for his wife to call 911. Rick ran to get a hammer, broke through the top of the door, and began giving Claire CPR.

Help was on the way
Amazingly, 15-year-old Claire had suffered a cardiac arrest.

Paramedics arrived in less than eight minutes, but Claire had stopped breathing two minutes prior. They began defibrillating her heart at 7 a.m. After the fifth defibrillation, at 7:07:54, Claire’s heart had regained its “sinus rhythm” and she was rushed to St. Marys Hospital in a coma.

While she was in the St. Marys Pediatric Intensive Care Unit, tests suggested that Claire suffered from Long QT Syndrome, (LQTS) a disorder of the heart’s electrical system that can cause a fast, abnormal heart rhythm (or “arrhythmia”), which can lead to fainting, cardiac arrest and, in some cases, sudden death.

Claire’s cardiac arrest resulted in a condition called anoxia, where an inadequate supply of oxygen reaches vital organs, including the brain. She was considered to be on the outer limits of what is survivable.

“We were told there was no way of knowing what her recovery might be; that she might be in a coma permanently or in a wheelchair permanently,” says Beth. “It was so wonderful to see her come out of the coma andher eyes the very next day.”

On Christmas Eve, Dr. Waseem Kazi, a cardiologist with Dean/St. Marys, inserted an implantable cardioverter-defibrillator (ICD) in Claire’s chest to monitor her heart and halt further arrhythmias. A few days later, Claire was discharged to UW Hospital and began a challenging period of rehabilitation, focused on healing the brain injury she had suffered.

Getting a diagnosis
Long QT Syndrome is estimated to affect one in every 5,000 to 7,000 people in the United States, and may cause up to 3,000 deaths a year, mostly in children and young adults. Dr. Kathleen Maginot, pediatric cardiologist and Long QT specialist at the University of Wisconsin Children’s Hospital, estimates that LQTS affects approximately 100 people in Wisconsin, about half of whom will die from the disorder.

To date, experts have identified six genes through which it’s possible to inherit LQTS. It can also be acquired through a gene mutation or by more than 50 common prescription medications (Claire was on no medications at the time of her cardiac arrest).

Those most at risk are children and young adults with unexplained fainting episodes or cardiac arrest, those in families who have experienced the sudden death of a child or young adult, and relatives of people with known LQTS. Medical researchers are exploring possible links between LQTS and sudden infant death syndrome (SIDS).

Looking for symptoms
Disturbingly, the most common symptoms of LQTS are a sudden loss of consciousness or sudden death. First symptoms usually appear around age 8 for boys and age 14 for girls.

“It’s important for people to know that symptoms such as fainting, dizziness, and palpitations associated with exertional activities are ‘red flags’ and should be evaluated by a qualified medical professional,” says Maginot. “However, it’s now known that some forms of LQTS can cause sudden death during sleep or with loud noises, and that about 10 percent of individuals with LQTS can present with seizures. If there is a family history of seizures, early sudden death (under age 40) or unexplained fainting, family members should be screened for LQTS.”

Obtaining a correct diagnosis can be difficult. LQTS often goes undiagnosed — one third of those who have it never experience symptoms.

“In cases of sudden death, a correct diagnosis could only be made if an electrocardiogram (ECG) was recorded prior to the individual’s death,” says Maginot. It is also often misdiagnosed as another ailment, such as a seizure disorder.

“Claire experienced infrequent fainting spells since the fourth grade,” says Beth. “We took the path of testing her through endocrinology and thought it looked likely that her fainting was caused by hypoglycemia, but we could never confirm that. Her heart was never tested.”

ECG testing clearly identifies 60-70 percent of cases, but results may appear normal for the remaining 30-40 percent and require further testing through monitors or exercise stress tests.

The most common treatment for LQTS is beta-blocker drug therapy, designed to prevent rapid heartbeats that can accompany stress and exertion. For patients who have experienced cardiac arrest, like Claire, an ICD may be implanted.

“Luckily, Claire’s heart suffered no damage and she has required no cardiac rehab,” says Beth. “Her rehabilitation process has focused on regaining skills she lost due to anoxia.” After two weeks of intensive physical, speech and occupational therapies at UW Hospital and Clinics, Claire was able to go home. She continued therapy sessions as an outpatient at Meriter Hospital.

Getting back to school
Claire began home sessions with a tutor in February 2005, and by March she had returned to school three-quarters time, taking breaks to cope with the fatigue associated with anoxia.

“Because the effects of a brain injury like this can be subtle, it can be hard for friends, family and others to understand what she has been going through,” says Beth. “Claire’s teachers have been amazingly supportive, and she has received wonderful assistance from the school district.”

After a summer that included daily swimming, a lot of drawing and listening to classical music as part of her therapy, Claire returned full-time to LaFollette this fall without any noticeable fatigue.

“She has made very nice progress” says Dr. Deborah McLeish, a specialist in pediatric rehabilitation medicine at UW Hospital and Clinics and St. Marys Hospital, who oversees Claire’s overall rehabilitation and treatment plan. “Many of the children I see don’t do nearly as well [as Claire] because their injury can be so global and so significant. In my opinion,” McLeish adds, “this is because of the quick and effective action of her parents.” Though Claire may have to rely on some “compensatory strategies,” McLeish says “She is already doing quite well, so her prognosis is relatively good. She really has a wonderfully supportive family who have read a lot and have provided great opportunities for Claire to maximize her recovery.”

Like all LQTS patients, Claire must live with certain restrictions. This means no contact-sports due to the risk of damaging her ICD unit, and using a “buddy system” when she leaves the house. She is back to enjoying most of activities she loved before her cardiac arrest. This spring, she auditioned for and was accepted into the senior women’s choir, Cantabile, which will perform with the Madison Symphony Orchestra in the Holiday Spectacular Concert.

Beth is now able to focus more time on efforts to educate the public about LQTS. “Many deaths could be prevented if Long QT is identified and treated,” says Beth. “A lot of times, somebody in their 40s or 50s who lost a parent or sibling to an early death, [also] loses a child. They only become aware of the heart arrhythmia after the fact and often after a death in the family.” The Godfreys have no family history of cardiac arrests under the age of 40, but Beth recalls fainting a lot as an adolescent. Claire’s sister, Katie, underwent extensive testing following Claire’s cardiac arrest, and fortunately, does not have LQTS.

Beth stresses the importance of implementing the American Heart Association’s “Chain of Survival” in any cardiac arrest situation (see sidebar).

“With each minute that passes without action or care after a cardiac arrest, the chances of survival are decreased by 7-10 percent. When each link in the chain works, the odds of survival increase greatly.”

Beth applauds efforts to install more automated external defibrillators (AEDs) in public spaces. Designed for lay people, these portable devices use audio instruction to help a user evaluate the heart rhythm of a cardiac arrest victim and, if needed, deliver a shock to help re-establish a normal heartbeat until paramedics arrive. In spring 2005, The Madison Metropolitan School District installed AEDs in all schools and district buildings.

Beth has begun working with the Sudden Arrhythmia Death Syndrome (SADS) Foundation, and at her suggestion, they haved an online chat room for young heart arrhythmia patients. “Most people don’t survive a cardiac arrest, and of those that do, most are not 15 years old. Finding peers and cohorts is difficult.” Beth will be a ‘SADS Mom,’ involved with the chat room to ensure that the information shared there is accurate.

She urges parents to have their child’s heart evaluated if there is any unexplained dizziness, fainting or seizures. “And even if the ECG results are normal, pursue it. Contact a Long QT specialist,” she adds. “It is more common than people think.”

For more information: Sudden Arrhythmia Death Syndrome (SADS) Foundation: www.sads.org, Mayo Clinic: www.mayoclinic.com, Chain of Survival: www.chainofsurvival.com, Cardiac Arrhythmias Research and Education Foundation (CARE): www.longqt.org.