Health
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.
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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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