Concerns About the March of Dimes

Human Patients Hold the Key in Birth Defects Research

Reprinted from the Spring 1997 Good Medicine

It is not very often that we have a bright spot in the war on birth defects. The rates for most are going up, and of 38 birth defects monitored by the Centers for Disease Control and Prevention, only 2 went down between 1979 and 1989.

Late last year, this gloomy picture started to brighten with a huge breakthrough in the fight against cerebral palsy, one of America's most difficult birth defects. This advance came not from studying rats and mice but from elegantly simple observations of mothers and their babies. This breakthrough suggests a path for conquering not only cerebral palsy but many other birth defects as well.

I have a special interest in this issue. In 1972, I was asked to be the United Fund's (now the United Way) poster child of the year through United Cerebral Palsy. I gladly helped raise money for the charity by making my way on stage—as best a five year old boy with leg braces can—at special fundraisers. A lot of that money went to research projects that were little more than fumbling around in the dark.

Twenty-four years later, however, some clever medical detective work was done by researchers who took a very close look at mothers and infants. Researchers from the Developmental Disabilities Branch of the Centers for Disease Control were studying low-birth-weight babies, who are at risk for dangerous bleeding into the brain. The researchers noticed that this problem occurred much less often when the mothers had a condition called preeclampsia, a condition characterized by high blood pressure and other dangerous symptoms late in pregnancy.

It turned out that what helped protect these tiny infants was not their mothers' preeclampsia, but rather the magnesium sulfate that was used to treat it. This simple therapy helped balance the mothers' body chemistry and also helped the baby.

Researchers in Atlanta decided to look into whether the brain injuries that cause cerebral palsy and mental retardation could be prevented with magnesium sulfate. They looked at 1,097 births involving very low-birth-weight babies and found that, sure enough, when magnesium sulfate was used, the risk of brain injuries dropped dramatically. For very tiny infants, this safe, inexpensive treatment could potentially prevent cerebral palsy two-thirds of the time and prevent mental retardation in half the cases. Imagine what that could mean for parents and children.

This is not the first time that painstaking observations in human subjects have tracked down the causes of birth defects. Not long ago, it was found that pregnant women whose diets were low in the B-vitamin folic acid were more likely to have a child with a spinal or brain malformation. Folic acid supplements—which cost next to nothing—could prevent 50 to 70 percent of these birth defects, according to federal government estimates.

Human population studies get the credit for linking heart attacks to cholesterol and lung cancer to smoking. But they have never been put to work in birth defect research nearly as extensively as they should be. Partly this is because birth defects are much more rare than heart attacks or cancer. Major birth defects occur in 3 to 4 of every 1,000 babies born in the U.S. while heart attacks eventually hit half of us. This means researchers have to look at a very large population in order to find the causes they are seeking.

I am trying to push the organizations that raise money for birth defect research to focus their attention on human beings—on those of us who, whether we know it or not, have the keys to unlock their causes. If chemical exposures or genetic traits in our parents increased the risk of birth defects, we need to track down these culprits. There may have been other factors, such as magnesium sulfate or folic acid, that offer protection. Once those factors are found, we can begin programs to prevent birth defects.

Many research organizations seem stuck in old-fashioned research practices that would never have revealed the value of folic acid or magnesium sulfate. America's largest birth defect research foundation, the March of Dimes, continues to pay for rat experiments, mouse experiments, ferret experiments—you name it. Some of these experiments have been gruesome—kittens have had their eyes sewn shut to show the effects on the brain, and pregnant animals have been given alcohol or cocaine to show the fetal effects we have already come to expect. And while the cats and rats are not so happy to volunteer for these experiments, every person I know who is affected by birth defects, including me, is only too eager to help tease apart why something happens in some cases and not in others.

I suppose it is unrealistic to think that we will ever stop all birth defects. But if we use the kind of research that works, we can get as close to that goal as is humanly possible.

Lawrence Carter-Long was the United Fund Poster Child for 1972.

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