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.

Just imagine if ALL babies across this country had been UNIVERSALLY and UNIFORMLY tested as newborns what the FOD Cost Benefit data sheet (see right sidebar) might look like—with alot LESS medical care dollar amounts and certainly ALOT LESS HEARTACHE! Why WAIT for a medical crisis to occur—let's get out there and Promote Expanded Newborn Screening so ALL families, no matter what state they live in, can know right from the beginning what they and their child/children are dealing with!

Families in Canada are also becoming aware of the importance of expanding their Newborn Screening. One of our newest Families is trying to network with other Canadians affected by an FOD (or one of the other metabolic disorders that can be detected through tandem mass spectrometry). Tammy Clark recently experienced the tragic death of her 9-month old daughter, Jenna, because her MCAD was NOT diagnosed at birth. She, like many of our Families that have gone through a similar experience, feels and KNOWS that NO FAMILY should have to have a child die! And if she lived in Saskatchewan (a province that currently screens using tandem mass spec), Jenna most likely would still be alive! Unfortunately it's similar in some states in the US ~ it should NOT matter where you live ~ ALL babies should be screened AT BIRTH ~ and NOT through an autopsy! Medical Professionals also NEED to become aware of disorders like FODs in order to broaden their Differential Diagnoses skills (i.e. when a parent brings a child to the ER) so that they can move beyond the 'It's ONLY the flu' type of diagnosis! Too many of us have heard that before! If you would like to join forces with Tammy and get the word out about expanded NBS in Canada, please contact her directly ~ change IS possible because 'We Are All in This Together!'

[Please Note: As co-Founder and Director of this Group, I strongly advocate a Regional Testing Lab format (PDF*) utilizing already established and effective NBS Labs (see right sidebar, Diagnostic Labs...), as well as Regional Labs that may be developed in the future. My view may not be 'politically correct,' but I believe it will save lives! Although several states have already implemented (or are in the process of implementing) various levels of mandated expanded screening utilizing their own Labs, while we wait for EACH state to 'discuss' IF and WHEN and WHOM will do the testing of some or all of the disorders that can be screened for at this time, MORE BABIES ARE NEEDLESSLY DYING! Unfortunately, politics and money are two of the biggest issues that are causing debate across this country ~ and again, while these debates are going on...delays in testing AND early treatment are causing higher residual medical complications and for MANY families, death. I have already buried one child in my family and I refuse to sit back and be silent. EVERY family in this country, especially those that live in states that do not do expanded screening, should be made aware that there are Labs around the country (listed on our Medical Info page, Diagnostic Labs) that are already equipped to do this screening and very experienced in interpreting the results ~ USE THEM ~ it may save your child's life!]

Deb Lee Gould, Director, FOD Family Support Group

SPECIAL REPORT
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."

Expectant parents don't have to live in the Dallas Metroplex to be able to take advantage of Supplemental Newborn Screening. By calling 1-800-4-BAYLOR (1-800-422-9567), parents can request a kit. Then, simply let your doctor know you'd like to have an extra blood sample drawn at the time of your baby's routine screening. Currently, the Institute at Baylor is expanding personnel and technology to be able to handle tens of thousands of screening requests from hospitals in other states.

*Reprinted with permission from Summer 1999 Baylor Balance ©1999 Baylor Health Care System

Diagnostic Labs that perform Supplemental and/or Comprehensive Newborn Screening (for individuals, hospital systems, and states):

Institute of Metabolic Disease (Dallas, TX)
Toll Free: (800) 4-BAYLOR for NBS information only
Phone: (214) 820-4533 for Diagnostic testing information if child or adult is symptomatic/Treatment Consultation

Post-mortem testing - call for information
Fax: (214) 820-4853
Charles Roe, MD, Director of Clinical Investigations and Co-Director of Mass Spec Lab
Email: charlesr@baylorhealth.edu
Raphael Schiffmann, MD, Medical Director

Larry Sweetman, PhD, Mass Spec Lab Director
Email: larrys@baylorhealth.edu

Xiaowei Fu, MD, PhD, Assistant Lab Director

Email: xiaoweif@baylorhealth.edu

Websites:
http://www.baylorhealth.com/medicalspecialties/metabolic/
http://www.baylorhealth.edu/imd/Default.htm

Mayo Medical Laboratories (Rochester, MN)
Mayo Clinic Biochemical Genetics Laboratory

Phone: (800) 533-1710 for NBS testing, Diagnostic testing, Consultation, Post-mortem testing
Fax: (507) 284-1759
Co-Directors:

Dimitar Gavrilov, MD, PhD, FACMG gavrilov.dimitar@mayo.edu

Dietrich Matern, MD, FACMG matern@mayo.edu 
Devin Oglesbee, PhD, FACMG oglesbee.devin@mayo.edu

Kimiyo Raymond, MD raymond.kimiyo@mayo.edu

Piero Rinaldo, MD, PhD, FACMG rinaldo@mayo.edu

Silvia Tortorelli, MD, PhD, FACMG tortorelli.silvia@mayo.edu

Lab Website: http://www.mayoclinic.org/laboratorygenetics-rst/biochemical.html

NBS Website: http://www.mayomedicallaboratories.com/articles/

newborn/index.html

Please note that approximately 35 disorders of fatty acid,

amino acid, and organic acid metabolism are included in the Supplemental Newborn Screen (SNS). Your physician, hospital, or hospital laboratory must arrange for SNS testing, including requesting screening cards and submitting samples to Mayo. Mayo is unable to accept specimens directly from patients or families. Mayo works directly with health care providers and laboratories who may contact Mayo to arrange for SNS testing for their patients by calling 1-800-533-1710.

Metabolism Clinic Appointments for patients who wish to be seen in consultation at Mayo Clinic

Dimitar Gavrilov, MD, PhD, FACMG

Appointments: (507) 284-8198

Fax: 507-284-1067

[Please note: Self-referrals are accepted at Mayo, however, we cannot make specific clinical recommendations prior to evaluating you or your child. It is very helpful to have your primary physician contact us and send a referral summary and relevant laboratory reports. With this information, we may be able to provide your physician with some guidance if necessary prior to your evaluation.]