The Inheritance Factor

Parents of children with birth defects face many problems: guilt, anger, fear. Today the doctors who can help are few and far between.

As ten-year-old Kerry Powell appears at the door, a little ripple of unease passes through the room. Then, with her mother guiding her, she moves forward as though on rocky ground. She is not leery of the adults in the conference room. Rather, her tentative gait is the sign of an undiagnosed birth defect. The specialists of the Austin Genetic Counseling Services (AGCS) accept without judgment the subtle differences they perceive in Kerry’s physiognomy: the downward slant of her eyes, her broad nose, her slow coordination. From previous examinations of Kerry, they know about the high arc of her palate, the simian crease in her palm, and the club feet, which were corrected surgically years ago.

Mrs. Powell has come to AGCS not only for guidance to help make life with Kerry smoother but also to determine the risk she runs of having another child with a birth defect. She draws on all three categories or services that the AGCS provides; the diagnosis of birth defects, their treatment, and counseling for their prevention. The service is the primary birth-defect evaluation center for Central Texas, and this year more than 1400 people in Austin will turn to AGCS for help. The specialists include Dr. Lillian Lockhart, a professor of genetics and pediatrics at UT Medical Branch in Galveston; Dr. Tom Hughes, medical director of AGCS and a full-time Austin pediatrician; and Mrs. Terri McCaslin, an Austin rehabilitation counselor. Once a month they convene at Austin’s Brackenridge Hospital to see their clients.

The AGCS team uses an array of techniques in their work. Dr. Lockhart’s concern is pinpointing the origin, nature, and prognosis of the disease or defect. Dr. Hughes advises on the treatment of the condition, arranges for x-rays and blood tests, refers patients to specialists, and prevails upon the medical community to assist the families. Mrs. McCaslin counsels the clients who have or will have a defective child and helps them deal with the maze of social services that are available for defective children and their families.

Mrs. Powell has been coming to AGCS for six months, subjecting Kerry to a battery of newly available tests, all designed to put a name on her condition. But the search that began five years ago in a Houston clinic, the search for the cause of Kerry’s developmental retardation, has recently taken on an urgency greater than the satisfaction of curiosity. Mrs. Powell has remarried and her desire to have another child does daily battle with her guilt and bewilderment.

Kerry is an affectionate child—she climbs eagerly into the counselor’s lap and clings to her neck—but she is relentless. Like a three-year-old, she grips a topic and won’t let go. Conversation with Kerry requires an effort of imagination and concentration. Mrs. Powell makes that effort, but it has cost her a fortune in energy, spontaneity, and joy. The constant attention Kerry demands was possibly the weight that tipped her mother’s unsteady first marriage into divorce.

Mrs. Powell has brought an armful of family pictures, which she unloads onto the table in front of the doctors. She picks through them, pointing out this cousin, that sister, an aunt with Kerry’s eyes. She glances at each snapshot, hoping yet fearing to look into a face that will give the doctors a clue to the unique genetic and environmental combination that is Kerry—something that will tell them what, or who, is wrong with her daughter.

The doctors sort through the snapshots, giving Mrs. Powell small murmurs of encouragement. They smile with concern as they focus years of training on the features of Mrs. Powell’s relatives.

“It looks like we’ve all got the downturned eyes you were talking about” says Mrs. Powell. “Did I tell you my little sister has an IQ of a hundred and thirty? My whole family, they’re all geniuses except me.”

Dr. Lockhart broaches the subject of Kerry’s most recent genetic test, a sophisticated chromosome sampling performed by Lockhart in her Galveston lab. Bad news: the cause of Kerry’s retardation is still unknown. She shows none of the chromosome damage that can point to a specific syndrome or defect. Without a diagnosis no prediction can be made about Mrs. Powell’s future pregnancies; since the doctors don’t know what to test for, it would be useless for her to have amniocentesis—a test made in the first trimester of pregnancy that can detect defects by examining the amniotic fluid surrounding the fetus.

Mrs. Powell has had all the bad news she needs. Pretending to ignore it for the moment, she says only that she would like to have Kerry’s test results. Lockhart hands her the papers. Hughes cheerfully admires Kerry’s progress, inquires about her school but gets little response, and promises to take good care of the photos. Good-byes are said and McCaslin escorts them to the door. Mrs. Powell, armed with information she probably won’t understand, tucks Kerry’s hand in her own, and they leave.

When Mrs. Powell comes to terms with the latest results, she will come back to AGCS. She will have more questions to ask and she will need advice as new problems arise—when, for example, Kerry reaches puberty and her age becomes more sharply contrasted with her behavior, and after she reaches 21 and her right to special education ends. And Mrs. Powell, despite her fatigue, will stretch what she thought were the limits of her love and rise to meet the problems that confront her daughter.

Two to 3 per cent of all babies are born with a major malformation, odds that seem small only to those who have had all the healthy children they want. AGCS sees virtually all types of birth defects, as well as certain behavioral problems, such as bipolar manic depression. The most common major problems the AGCS staff treats are congenital heart defects, cleft lip and palate, dislocated hip, club feet, and brain and spinal cord defects (including spina bifida, which involves an open spinal cord, and anencephaly, in which the child is born

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