It is possible for a baby in this city to be born with sickle cell disease and die of it before anything can be done. A baby shows no symptoms for many months, and some of the early signs -- fever, serious infections or pneumonia -- can be easily diagnosed and treated as something else.
There is a simple diagnostic test for this hereditary disease that mainly afflicts blacks, which could save the lives of many babies in the metropolitan area. It permits doctors to direct appropriate care quickly instead of playing hit and miss for a year.
But hospitals in Washington aren't required to perform that test. They test for phenylketonuria (PKU), a genetic disorder that can cause mental retardation and that occurs once in every 10,000 births (usually among whites), and hypothyroidism, an underfunctioning of the thyroid that can slow all bodily activities and that has a similar rate of frequency. But they do not test for sickle cell anemia, which occurs once in every 500 births among blacks -- the patient population primarily served by D.C. hospitals.
There are two tests to detect sickle cell anemia. One is an advance fetal test that lets prospective parents know if their child will have sickle cell. That is a controversial experimental test. But another, a neonatal test performed right after delivery, is safe and simple and many doctors are recommending it. It costs only $20 and involves testing the blood from the umbilical cord. Programs in New York and California have reported that by identifying sickle cell babies early and watching them carefully, the rate of mortality has significantly decreased.
Several years ago, the law mandating PKU and hypothyroidism tests here was enacted. Inclusion of sickle cell was discussed, but not adopted. Two weeks ago, four city hospitals (Georgetown, George Washington, Howard and Children's) voted to recommend to the city's Genetics Advisory Panel that the city law be amended to include sickle cell testing. Yet, Dr. Roland Scott, director of the Howard University Center for Sickle Cell Disease, is worried about the recommendation being adopted.
One opponent is Dr. Robert Murray, head of the genetic unit at Howard University and a member of the mayor's Genetics Advisory Panel, who sees a potential "tense kind of moral and legal situation . . . and tricky problems for parents."
Washington has a high rate of out-of-wedlock births, he notes, and a problem arises when a mother names as the father of her child a man who is not the father at all. For a baby to have sickle cell anemia, both parents must have either the disease itself or the genetic trait that can produce it in the offspring. Suppose the baby tests positive and the man named as the father does not have sickle cell, Murray says. That would mean the father named is not the father in fact.
"If you didn't do the test, the named father would never know he is not the real father ," he says. "The question is, what is the chance of non-paternity being detected? It can be as high as 1 in 120 couples while 1 in every 500 blacks has sickle cell at birth. The mother is on the spot because she has lied about the identity of the father and this information could open a pandora's box by bringing up an issue that may have never been touched."
Besides, says Murray, iron deficiency anemia is a greater problem than sickle cell among black children and tests for it can also detect sickle cell. Murray also asks whether white babies should be screened since the incidence of sickle cell in whites is about the same as the incidence of PKU in blacks. Such concerns have convinced him that the benefit of knowing early that the child has sickle cell is not worth the risk of the problems it would raise.
Dr. Scott counters that these are valid questions, but the social, economic and political concerns don't outweigh the fact that babies are needlessly dying. In the end, and in separate conversations, Drs. Murray and Scott came around to the same solution: Make the law voluntary, not mandatory. Inform parents about the test and give them the right to refuse if they choose.
That would save the lives of children, and that's what it's all about.