• Print

Genetics, birth defects and metabolism

Matthew regains spark after vitamin deficiency

Nothing is more satisfying for pediatric specialists than diagnosing and treating a child with a life-threatening condition — a child such as Matthew.

Born in 1995, the first child of Nancy and Jeremy, Matthew was thought to be healthy until, at age 3 months, he began having uncontrolled seizures. He was immediately hospitalized locally, but when his condition deteriorated rapidly and no diagnosis seemed to be at hand, Nancy and Jeremy requested that Matthew be sent to Children's Memorial.

"The doctors treating Matthew locally were soon aware that his case was beyond their expertise," says Jeremy. "But as soon as we arrived at Children's, we sensed that the doctors knew what they were doing and would do everything humanly possible to find the right answers."

Upon being admitted to the hospital, a vast wealth of medical expertise and advanced technology was focused on Matthew. Within minutes of first examining him, his neurologist, Dr. Charles Swisher , noted the infant had a rare movement disorder in addition to his seizure problems. It was a "catch" that no one else had made and would later provide important clues to Matthew's diagnosis.

His doctors ordered a wide variety of tests, including magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS ). The MRS test (at that time available at few other hospitals in the nation) provided a significant breakthrough by indicating that Matthew had a metabolic disorder. Unfortunately, the disorder that seemed most likely was one with virtually no successful treatment.

By now the race against time to diagnose and find a treatment was getting very urgent; Matthew was slipping away. He seemed to be little more than a floppy rag doll. He could neither smile nor hold his head up, had very poor muscle tone and barely ate. Before long, Nancy and Jeremy were preparing themselves for the worst, and as people of deep faith, they had Matthew baptized. "I remember an occasion in the hospital when I was with him at his bedside," says Jeremy. "I had a remarkable, unexplainable feeling that heaven and earth were meeting somehow in that room, and I told Matthew that if it was time for him to go, it was okay. Whether he stayed with us on earth or left us for heaven, it was okay; we were at peace." But Matthew stayed, continuing to puzzle the medical professionals who labored on.

By this time, the results of tests done after Matthew's admission — tests that can take days or weeks to be processed — were coming in. And with the results, more answers were trickling in. Based on studies conducted by Dr. Joel Charrow , head of the Section of Clinical Genetics, it was determined that Matthew's body was not using Vitamin B-12 normally (one of the key vitamins for the development of the brain and nervous system.) He was promptly started on injections of a special form of the vitamin and given a vitamin by mouth to counteract the effect of the apparent vitamin deficiency.

Just a few days after treatment was begun, Matthew's condition had improved remarkably, and he was discharged from the hospital. "We had our baby back!" says Nancy. "Almost overnight he was different — alert, smiling and responding to our voices." The change in him was amazing.

Despite his remarkable improvement, Matthew continued to have occasional seizures, which had been predicted, as well as other problems resulting from the effects of the vitamin deficiency on Matthew's brain.

When it was determined that Matthew had a deficiency of Vitamin B-12, the concern arose that his mother might also have the deficiency. Further testing confirmed this suspicion. Evidently there was a link between Matthew's seizures and the Vitamin B-12 that was lacking in his mother's milk and perhaps throughout fetal development. As soon as this fact was uncovered, Nancy's physicians started her on Vitamin B-12 injections as well.

Finally, in July of 1996, Matthew's vitamins were discontinued and except for occasional seizures and some developmental delays, he has progressed slowly but steadily to become the vibrant five-year-old he is today.

"The doctors are very careful not to make any promises about Matthew's long-term prognosis," says Nancy. "But we're very pleased with his progress. He's active and happy most of the time, growing, talking more than ever, and doing remarkably well."

As the family looks back over their experiences with Children's Memorial, Jeremy speaks for both of them when he comments, "The combination of expert medical staff and advanced technology at Children's Memorial helped to save Matthew's life. We can't say enough positive things about the hospital."

Children's Memorial Hospital seeks philanthropic funding to enhance its programs and services. As a proud partner of the Children's Miracle Network (CMN), all funds raised in the Chicago area through CMN also benefit Children's Memorial. To find out how your support can help the hospital better serve children and families, please contact the Children's Memorial Foundation at 773.880.4237 or Foundation@childrensmemorial.org.