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.

September 1980By Comments

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 without a head and with so little a brain stem that death occurs at birth or within a few days). A third of these malformations are genetically caused; the rest have multiple or unknown causes.

The chances of having a child with genetic abnormalities are about one in two hundred. The most familiar disorder is Down’s syndrome; for years, children with this chromosome defect were insensitively called mongoloid idiots. As women in their late thirties and early forties probably know, their chances of having a Down’s baby jumped to one in one hundred on their 35th birthday.

“Some psychologists claim that it takes parents of a Down’s baby four to five years to adjust,” says McCaslin, “but in our experience—well, we think most parents never really do. They never get over having a defective child. That’s why we try to treat the whole family, because they live with the defect twenty-four hours a day.”

Most families that AGCS sees are referred to Terri MsCaslin’s office by the mother’s obstetrician or the child’s pediatrician. McCaslin takes the family’s medical history in minute detail, then checks with Hughes to determine when to schedule an appointment. She and Hughes also decide if blood samples or other information besides the history—or pedigree, as it’s called—should be sent to Lockhart in Galveston. Before the staff meets with a family each one has gone over all of McCaslin’s and Lockhart’s findings.

“A lot of our patients seem to fall through the cracks between social services,” says McCaslin, “so we try to plug them into financial and educational resources. One lady came to us knowing that she had been exposed to rubella in the first trimester of her pregnancy. Her doctor had urged her to be vaccinated, but for whatever reason, she refused. She wouldn’t consider the option of having an abortion, either. So we got her all set up with local agencies before the baby was born in case something went wrong. Sure enough, the baby was born blind, had some hearing defects, and was retarded too. But it didn’t faze her. She just kept going, using the channels we had helped her set up.”

There is much more to AGCS than reading family profiles and attending monthly meetings. “Each of us,” says McCaslin, “has been called to the hospital in the middle of the night to be with a couple who have just given birth to a defective child. Occasionally, the obstetrician will ask us to break the news to the parents.”

There are three immediate questions that parents of such a child want answered: Will the baby live? If it does, will it be able to learn? Will the family be able to take care of the child at home? Parents, doctors, and counselors do a complicated dance around the words “death,” “vegetable,” and “institution.” The last two are not part of a sensitive counselor’s vocabulary.

AGCS also counsels clients who have been diagnosed elsewhere as having one of the numerous inherited diseases, such as cystic fibrosis, in which both parents must carry the gene for it to be expressed in the child; muscular dystrophy, which is carried by the mother alone; and Huntington’s chorea, which can be carried by either parent. Sometimes clients seek a diagnosis of a condition that has baffled other doctors. They come to find out more about a disease, to correct misinformation they have received, to determine its effect on their family’s future, or just to vent their frustration and anger. Huntington’s families are among the hardest cases to counsel, because of the devastating suspense created by the disease’s late onset.

Louise Rupp is 45 and has had Huntington’s chorea for nine years. She enters the conference room like a life-sized wind-up toy. Her body is rigid and her right arm is raised at the elbow as though she is about to say something that just occurred to her. Her jaundiced face is wide-eyed and frozen in an expression of hilarity that she has long since ceased to feel.

For many years before the trembling in her hands started and the diagnosis was made, Louise lived with the fifty-fifty chance that she would be a victim and carrier of the disease. There are a dozen diagnosed cases of Huntington’s in her family and three suspected cases among her brothers and sisters. Louise is now waiting to see which of her six children—all of whom she bore before the verdict on herself came in—will also develop the trembling, the involuntary jerking movements, the erratic behavior, and the many psychological problems that often precede the massive deterioration of the brain.

The nursing staff of a local hospital had called Terri McCaslin about Louise. After recovering from a bout of flu, she had become so complacent in the hospital that she had virtually ceased taking care of herself. Louise didn’t want to go home to a family that had tired of her chronic ailments and peculiar behavior.

After talking to McCaslin, Louise left the hospital and agreed to seek counseling. To the AGCS monthly meeting Louise has brought her daughter Brenda, Brenda’s husband, Collins, and their daughter, Heather. McCaslin has done an extensive history of the family, which Hughes and Lockhart have studied, but this is their first meeting with Louise and her family.

Brenda, in her early twenties, is chatty and nervously funny. After a few questions to check on Louise’s condition, Dr. Lockhart asks Brenda how she feels knowing she stands a one-in-two chance of developing her mother’s illness. She leans back in her chair, laughs, and swings her foot a little. “Well, you know, you have to stay on the positive side. It’s really hard to live with it if you think about the negative thing all the time. I don’t care so much about myself, but I worry about Heather. I want her to live life to the fullest. I guess she’s pretty spoiled—not rotten, you know. But she’s definitely special.”

Louise, who has been staring giddily at no one in particular and has seemed oblivious to the conversation, suddenly says, almost to herself, “You been nervous since you was fifteen. Your hands’d get to shakin’ since you was a teenager. I don’t care for myself. I just worry about the children.”

Brenda answers quickly: “I think all teenagers are kinda nervous. I’m kinda nervous right now!” She laughs a little.

As a diversion the doctors turn their attention to four-year-old Heather. Collins knew of Brenda’s genetic history before they married, but they decided to have Heather anyway, knowing full well the risks they ran. They do not plan to have any more children.

Collins doesn’t mince his words. “What’s the earliest and the latest you can get the disease and what are the symptoms?” he asks the doctors.

Answers: The onset is usually in middle age, but it can be as early as adolescence or as late as in one’s sixties. Symptoms vary.

Brenda is more circumspect. “Can a person make the disease seem more advanced than it really is?”

“Do you mean by manipulative behavior?” McCaslin suggests.

“Yeah, sort of.”

“Well, that’s a possibility,” says Hughes. “That’s true of many people with chronic disorders, but it’s usually not intentional.” Louise smiles blankly.

Frustrated, and unable to face the question she really has on her mind, Brenda asks, “What’s the time you can have it since it starts?”—an awkward circumlocution for “How long will my mother live?”

Hughes, who sits closest to Heather, has become entangled in a discussion of puppies. Lockhart replies, “About fifteen years.”

Louise tries and fails to get the attention of the room, so she turns to McCaslin: “They said at the hospital they’d be sorry to see me go ’cause I’m always smiling.”

Brenda tries to wrap up to interview, but the chance that she might be able finally to dispel her nameless fears is too tempting and she asks, “I guess Huntington’s is so unknown that they don’t have a cure for it. What happens to you anyway, when you’ve really got it?”

The three doctors offer a collective description that means essentially that the brain degenerates.

Brenda says, “I always thought the brain swelled, or something. You mean there’s nothing left when it gets to the end?”

Dr. Lockhart corrects this impression. “No, but at some point it degenerates to where it becomes incompatible with carrying on.” Brenda nods. With her final questions answered, she seems satisfied at last.

Heather tells the doctors good-bye as instructed by her mother and volunteers to show Dr. Lockhart her puppy if she’d come to her house. Laughter follows.

Louise beams at Heather and, still sitting stiffly with her arm raised slightly, she says with no apparent emphasis, “She’s a sweetheart. She’s Granny’s little girl.”

In some ways counseling for prevention is the most difficult of AGCS’s jobs. When a couple must confront the likelihood of having a child with birth defects, prevention means, in essence, two things: either to have an abortion, if the woman is already pregnant, or never to have children at all. The final decision is always left up to the patients.

“As I see it,” says Lockhart, “the purpose of AGCS is threefold: to give our clients specific genetic information as objectively as possible, to present their options neutrally, and to support their decisions wholeheartedly.”

Many times birth defects are caused not by genetic problems but by mistreatment of the fetus. In one eight-month period AGCS saw such cases as: a young pregnant woman with a history of gonorrhea and hepatitis as well as heroin, cocaine, and speed use; a young pregnant woman who had had four abortions and who took amphetamines during her first trimester; and a woman who had ingested a toxic herbal substance during the first trimester of pregnancy and was about to give birth to a stillborn baby with encephalocele (a cyst in place of a head).

“If a woman is pregnant or suspects she is, she shouldn’t smoke, drink, or take drugs,” says Dr. Hughes succinctly. Whenever and wherever possible AGCS stresses the importance of prenatal care. They reach out to couples, teenagers, and anyone else willing to listen. McCaslin recently spent more than four hours fielding questions from three hundred high school students. They asked about birth control, venereal disease, and, most surprisingly, birth defects—questions like “Can a kid get sickle-cell anemia if one of his parents is white?” One major concern McCaslin, Hughes, and Lockhart share is that there will not be enough genetic counselors when the population they have helped to educate begins raising families.

AGCS is one of only forty genetic counseling programs in Texas, and it is by no means representative. Services vary tremendously in the kind and number of genetic tests they perform and the amount of counseling they do. Lockhart’s lab analyzes a huge number of amniocentesis tests daily, and the pressure to produce swift, accurate results is relentless. Only five labs in the state perform amniocentesis and they are reaching capacity, just one indication that demand for genetic services already outweighs the supply of specially trained geneticists. (You can write or call the Texas Genetics Network of the Texas Health Department of Health for a directory of the available genetic counseling services: 1100 W. 49th Street, Austin 78756, telephone 512-458-7700.)

AGCS’s other big worry is money. The service operates partly on the faith of McCaslin, Lockhart, and Hughes and partly on grants from the Moody and Hogg foundations amounting to about $20,000 a year. (Of the three, McCaslin is the only salaried member.) AGCS’s start-up money came in 1975 from the March of Dimes. The AGCS staff estimates it gives $700 to $1000 in free services to each family they counsel. Lab fees, like Kerry Powell’s, are based on the ability to pay.

Lockhart, Hughes, and McCaslin se life in its infinite variety, from the otherwise “normal” child with mildly retarded development to the misshapen newborn struggling to sustain a body that but for some unscheduled modifications would have developed normally and vibrated with well-being. They see the worst possible family situations, and not a few of the best individual efforts to deal with them. And yet they manage not to become dulled or calloused by their long exposure to the repeated tragedy of a randomly dealt bad hand or the inevitable result of foolish risk-taking. They take it all in stride, laying neither anxiety nor blame in the laps of these parents but rather offering with dignity, restraint, and compassion the knowledge of human medicine that has been their own consolation for years.

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