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The following story* of the
Burke Family of San Antonio, Texas, demonstrates all too clearly
the tragic ramifications of a late FOD (MCAD) diagnosis and
how one particular Institute of Metabolic Disease is trying to prevent
such experiences. Their story is unfortunately similar to some of
our families in the FOD Family Support Group and to some who responded
to our Cost Benefit Analysis Survey.
Identifying Babies at Risk: Simple Screenings
Can Detect Complex Disorders
It was Christmas
1997. His parents had stayed up late into the night "playing Santa."
And sleepy-eyed 19-month-old Bryce Burke was about to feel the thrill
of tearing through presents.
"He walked
in and his eyes got real big," says his dad Robert. "He was just
getting to that real fun age where everything is exciting and new."
Nineteen
days later he was in a coma. Sixty-seven days later Robert Burke
and his wife, Ollie, brought Bryce home from the hospital to their
Fort Worth home in a wheelchair, knowing their son would never live
a normal life.
"He really
had never even been sick. He had been perfectly healthy until that
one morning when he just didn't wake up," Robert says. On that fateful
morning Bryce's blood sugar had dropped to a near lethal level—the
result of a disorder called MCAD (medium-chain acyl-CoA dehydrogenase),
a deficiency in which the body fails to break down fat into energy
like it should. If detected early, it can be managed with diet.
But, as the
Burkes experienced, the disorder can go undetected until it's too
late. "We had no idea—nothing to warn us about this," Robert
said. "It is totally frustrating that we could have headed this
off at the pass with testing that we didn't even know about."
Infant
Screening Offers Hope
Today, the Burkes have made it their mission to get the word out
about Supplemental Newborn Screening—a revolutionary procedure
offered through the Kimberly H. Courtwright and Joseph W. Summers
Institute of Metabolic Disease at Baylor University Medical Center
in Dallas.
The screening
tests infants for 30 inherited metabolic diseases not detected by
routine state newborn tests. Performed within the first three days
of life, the procedure takes a tiny blood sample from the baby's
heel and tests it at the Institute. The Institute's Director, pediatrician
Charles Roe, M.D., says Baylor is the first hospital system in the
United States to offer this 'quantum leap in infant screening.'
He estimates
that one in every 5,600 infants has a metabolic disease detectable
by the screening. While the disorders are rare—especially in
children whose families have no history of metabolic disease—they
are often serious and life-threatening. They may slow physical development,
cause heart disease, muscle disorders, seizures, mental retardation
or even result in sudden unexplained death. However, early diagnosis
and treatment prevent serious illness in most cases.
Leading
the Charge
Dr. Roe has been interested in genetic metabolic diseases for 35
years. Though his field is highly specialized, his goal is simple:
He wants to prevent families from the pain of losing a child.
"I'm especially
sensitive to the misery of losing a child in a family and its effect
on parents and living children. I lost a sister," he said. Although
she did not die from a metabolic disorder, her death made a lasting
impression on Dr. Roe, then age 11. Since then, that impression
has taken on positive meaning in the form of Roe's pioneering work
with infants. With testing available through many of Baylor's hospitals,
newborns who might otherwise face serious problems later in life
can grow into happy, healthy adults, often simply by observing a
few dietary restrictions.
"There's
no question, this screening will eventually become the new standard
of care," he said. "I feel very much like Robert does—Why should
any child die when you have this technology available?" Dr. Roe
predicts that the screening—which is now also available in
several other countries—will eventually take hold throughout
the United States.
Bittersweet
Success
Roe said the Institute often gets involved with families who have
already lost a child. "More often than not, about the time a child
gets sick without explanation, mother is pregnant again. So while
the first child's sickness is difficult, even heart-breaking, we
can prepare for treatment of future children by providing prenatal
diagnosis," said Roe.
The Burkes
say the supplemental screening performed on their second son Benjamin
provided peace of mind. The day after he was born, Robert drove
a blood sample from Fort Worth to the Institute. "We knew one day
later that Benjamin did not have MCAD." Today, one-year-old Benjamin
crawls all over his older brother, kissing him and loving him. Though
Bryce cannot communicate, swallow or walk, he has a special place
in the hearts of his parents, who will continue in their tireless
efforts to get the word out about Supplemental Newborn Screening.
"I know we're
affected by it personally, but even if we weren't, as a parent I
would want to hear about it," says Robert. "I look at Bryce and
think of a beautiful little boy who isn't getting to experience
life. That didn't have to happen."
*Reprinted with permission
from Summer 1999 Baylor Balance ©1999 Baylor Health Care System
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