Rare Disorder Bewildered Family As Teen-Agers Died
06-07-1993 Times Picayune

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Thirty-three years ago, for reasons no one could explain,
Patricia O'Dell's siblings started dying.

The first was O'Dell's sister Margaret, who died shortly after
getting married. she was 18.

The next, in 1964, was Russell, a 19-year-old weight lifter and
swim-team member.

And 18 months later, Thomas a 16-year-old high-school student,
died.

Around this time, a 16-year-old cousin died, too. The grieving
family was baffled because, O'Dell said, there seemed to be no
medical reason. All four were young, active and fit; in fact,
two weeks after Russell's funeral, the Marine Corps called to
tell him he had passed the physical and to give him his orders.

"That they died painful," O'Dell said. "That no one could tell
us why they died was unberable. We lived through 20 years of
never knowing who could be next. . . As parents, we watched our
children go out to play, and we never knew if they would return
home alive. When the telephone rang, we never knew if it was
family, friends, salespeople or the city morgue."

For 20 years, it was a mystery - until a friend told O'Dell's
mother eight years ago that the deaths sounded like evidence of
long-QT syndrome, a rare inherited disorder that causes
abnormal heartbeats and sometimes, death.

The syndrome, which is known to afflict about 400 families
worldwide, gets its name from the abnormally long interval it
produces between two points, labeled Q and T, on an
electrocardiogram. Because of this unusual pattern, people with
this problem ocasionally feel weak. Frequent fainting can be a
symptom; so sometimes, is nerve deafness, a form of deafness
brought on by a lesion on the acoustic nerve.

The friend's hunch was correct. Tests showed O'Dell and one of
her two surviving sisters carry the gene. Further examinations
of family members have disclosed that one of O'Dell's nieces
has it, as does O'Dell's grandson.

There is no cure, but the disorder can be controlled with daily
medication, which hasn't been developed when O'Dell's siblings
died.

Because treatment is readily available, O'Dell is going public.
Even though she has never met another family with this
disorder, that doesn't mean the possibility doesn't exist in
the New Orleans area.

"No new medical discovery can take away our 20 years of pain,
suffering, fear, grief and frustration over unanswered
questions," she said, "but perhaps our experience can be used
to help save other families this tragedy.

Even though the number of affected families is relatively small
- about 300 in the United States - people with long-QT syndrome
are part of a database at the University of Rochester Medical
Center in Rochester, N.Y. About one family is added each week,
said Jennifer Robinson, the registry's program coordinator.

No one knows how many more there, she said. Some have estimated
that the number in the registry represents about a tenth of the
total affected families, but no one is sure.

The disorder also has acquired a foundation, the Sudden
Arrhythmia Death Syndromes Foundation, with a toll-free
information hotline: 800-STOP SAD (768-7723). Long-QT syndrome
is one of one of several heart-rhythm problems, said Dr. G.
Michael Vincent, the foundation's president and medical
director, and there is a possibility that it might be related
to sudden infant-death syndrome.

Vincent, the chairman of the department of medicine at LDS
Hospital in Salt Lake City, has been studying the disorder for
20 years.

The disease, which has been found in a broad variety of
countries, was first described in 1957, he said.

That was three years before the first of O'Dell's sibilings
died, but, he and O'Dell said, incorrect diagnoses have been a
problem because doctors have not known what to look for if
everything appears normal.

For instance, even though O'Dell sister Margaret had fainting
spells, she was told she probably had anemia, O'Dell said, and
her brother Russell was told he had epilepsy.

The principal trigger for Long-QT syndrome is stress.

"It causes your heart to beat faster and harder," Vincent said.
"It'll make you prespire. It may make your mouth dry. If your
fear is enough, it'll make you tremble."

All these involuntary activities are governed by the
sympathetic nervous system. They can be countered by a class of
medication known as beta blockers, which reduce stress and
bring the long heartbeat interval into line. They are named for
the nerve receptor where the chemicals act.

For people like O'Dell and her relatives, beta blockers have
been nothing short of miraculous, said Dr. John H. Phillips
Jr., the Tulane University Medical Center cardiologist who has
treated the family for about 25 years.

"Before beta blockers, we just held our hands," he said. "We
didn't know what to do. . . It's terrible disorder to have. The
good news is that it's treatable now."

While reassuring, this is hardly a happy ending for O'Dell.

"It is not over," she said. "It is just beginning. It will
never be over."