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.
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