Communication with parents counts

Abstract

Parents offer clinicians and counselors tips for talking about children Receiving a child's genetic disease diagnosis is often an emotionally devastating experience that marks the beginning of a long medical odyssey. It can last until a child's untimely death, or if youngsters have less threatening problems, the rest of childhood or the parents' lives. Parents who receive such diagnoses remember forever how physicians spoke to them and report that the experience of receiving a diagnosis and interacting with genetics professionals can affect how they care for children and the quality of family life. Parents agree: Geneticists and genetic counselors need to choose words carefully when delivering diagnoses and discussing next steps. That is a good policy to maintain in subsequent appointments, they say. Families urge geneticists and genetic counselors to listen carefully to parents who know their children best. Parents desire open, trusting therapeutic relationships that support good treatment and full lives for their children. They are thankful for their genetic professionals' care and have specific ideas about how professionals can better communicate to improve it. Many families also would like genetics professionals to share information with the other specialties who typically see children with particular disorders. Parents—especially those whose children have Down syndrome (DS) and trisomies 18 and 13-report that too often, genetics and medical professionals seem to see their children as manifestations of their disorders. In contrast, parents view children as cherished family members with unique sets of abilities, however limited by their genetic conditions. “Our children have disorders that make our lives more challenging, but they are still part of our families. Even if our children aren't perfect to the doctor, they are still perfect to us,” says Barbara Van Herreweghe, President of the Support Organization for Trisomy 18, 13, and Related Disorders (SOFT). Parents agree: Geneticists and genetic counselors need to choose words carefully when delivering diagnoses and discussing next steps. Medical professionals in general sometimes seem too tied to textbook descriptions of disorders and recommendations for treatment, add Van Herreweghe and other parents interviewed here, who stress that it is important to consider the whole child. “Look at our children for who they are, then look at treatment,” Van Herreweghe says. At age 28, her daughter Stacy has far exceeded what is considered the typical life expectancy for children with trisomy 18. Only about 10% of children with the disorder live beyond age 1. Suzanne Kouri, a nurse who holds multiple leadership positions in the National Marfan Syndrome Foundation and has a son with the disorder, agrees that some geneticists rely too much on textbook criteria. The first geneticist who evaluated her son would not diagnose Marfan syndrome because his arm span “wasn't quite long enough,” she recalls. Yet an echocardiogram she insisted upon revealed a problem with his aorta that is a telltale sign of the disorder. Another geneticist, with whom Kouri enjoys a productive relationship, correctly diagnosed Marfan syndrome and immediately devised a care plan including beta blockers and serial echocardiograms. Usually, those interviewed here assert, geneticists and genetic counselors discuss diagnoses well without making inappropriate predictions. Deborah Heine, Executive Director of the Claire Altman Heine Foundation, recalls a genetic counselor who discussed her daughter's spinal muscular atrophy (SMA) diagnosis in a way that was helpful and not unduly negative. Heine was told, “I can't say what will happen for sure, but here are typical scenarios,” she recalls. But sometimes, these parents feel, genetic counselors and geneticists fail to understand how devastating a child's genetic diagnosis can be to parents and are not as sensitive as they could be. “There's a therapeutic art to delivering a diagnosis that will not be good news for parents,” notes Kouri. “Remember the whole patient and the whole human part of medicine,” she urges. David Forney, Communications Director and a board member of the National Down Syndrome Congress, offers advice on delivering DS diagnoses in particular, but his suggestions are relevant to other conditions with symptoms that are not necessarily life threatening and unfold relatively slowly over time. First, avoid predicting what children will not be able to do, he says. “If this is a prenatal or postnatal diagnosis, you don't know how the kid will be in the future. There's a huge spectrum of DS. It's a collection of 50 symptoms, and very few kids have all of them. Each kid has a unique combination of symptoms and inherited capabilities. There's no way you know what they are in the prenatal or newborn period,” he explains. Saying “I'm sorry” or “There's bad news” is to be avoided, Forney advises. “For anxious parents, the words used to convey the message get amplified way out of proportion. Words with negative connotations can stick with parents and never go away, so that consultation is exceedingly important in terms of parents' mental attitude.” It can affect how quickly parents move to address their children's needs, Forney explains. For example, even the word “risk” can unduly upset parents. “That's an implicitly negative term. ‘Chance’ is more neutral and a better choice. That kind of subtlety is important,” according to Forney. Our children have disorders that make our lives more challenging, but they are still part of our families. Even if our children aren't perfect to the doctor, they are still perfect to us.—Barbara Van Herreweghe Geneticists or genetic counselors who are considering more than 1 diagnosis should avoid telling parents that having 1 disorder is better or worse than another, says Lisa Schoyer, past President of the Costello Syndrome Family Network and Chair of its Research Advisory Group. Before her son's Costello syndrome was diagnosed, a geneticist also considered the possibility that her son had cardiofaciocutaneous (CFC). That geneticist told Schoyer that Costello syndrome was the “worse” disease. Now it is known that children with CFC are more likely to have mental retardation, she points out. “To qualify which disorder is worse is a dangerous thing,” she says. In certain cases, parents want geneticists and genetic counselors to be more predictive. For example, some parents of babies diagnosed with spinal muscular atrophy (SMA) would actually like genetic counselors to better describe the future challenges inherent in particular care decisions. In contrast to DS symptoms that unfold over a span of years, SMA type 1 progresses rapidly. Children lose the ability to move, swallow, eat, and breathe, and most die before age 2 without respiratory intervention. More counseling regarding how treatment choices will affect the child's and family's quality of life is needed, says Heine. Parents understand that when children lose the ability to breathe, they will die without a ventilator. Less understood—especially by first—time parents—are the daily demands of caring for a child using a respirator, explains Heine, noting that some families become overwhelmed and are heartbroken over decisions to institutionalize their children. “Someone needs to help parents understand consequences of specific decisions. For example, if the decision is about a feeding tube, point out that child will die of hunger without one,” Heine explains. When a child is diagnosed, some written information about the disease is extremely helpful to parents. However, many parents receive no literature about their children's condition from geneticists and other specialists, say parents, including Heine. “No one even wrote down the name of SMA,” recalls Heine of her daughter's diagnosis. “I'm sure they told us, but when you hear your child is going to die, you really don't hear anything else.” Even in subsequent appointments, when the shock of the diagnosis had worn off, Heine thought she understood what the geneticist said but realized after leaving that she could not explain certain facts to others. She is now in the process of writing a “welcome to the SMA family” document so other parents of newly diagnosed children can avoid some of the problems she had. Parents view children as cherished family members with unique sets of abilities, however limited by their genetic conditions. Patient advocacy organizations, support groups, and foundations devoted to particular diseases offer a wealth of information to parents of newly diagnosed children and medical professionals alike, parents say. Reputable organizations often fund studies targeting specific disorders and can be a source of accurate, timely information and can connect parents with families affected by the same disorder, says Kouri. More knowledge of particular problems associated with a specific disorder can help tailor treatment, say some parents, who would like genetics professionals to be more proactive about offering information to other specialists who care for children. Someone needs to help parents understand consequences of specific decisions.—Deborah Heine Some pediatric neurologists who diagnose and care for infants with SMA could benefit from the use of genetic counselors, Heine says. When delivering the diagnosis, her daughter's neurologist did a poor job of explaining its genetic underpinnings and did not mention carrier status, she recalls. Whether a child is yet to be diagnosed or has been receiving care for years, listen carefully to what parents say because they know their children best, says Kouri. A good geneticist will uncover facts that should raise the index of suspicion for a particular disorder or signal a need for changes in treatment, she explains. Recalling her negative experience with the first geneticist who saw her son, Kouri muses that geneticists and genetic counselors have a tough job because they deal with so many disorders and must have a rapidly changing understanding of them. It is possible, she says, that a parent intently focused on a child and his or her single genetic disease might, in some cases, have information about the disease or a particular treatment the geneticist or another specialist does not. That is a sentiment shared by Van Herreweghe. She suggests listening carefully to what a parent has to say. Consider it, and if you do not agree, carefully explain the drawbacks of the suggestion for the individual child in front of you, she adds. A clinician's or counselor's ability to imagine himself or herself in a patient or parent's shoes goes a long way toward encouraging a well-delivered diagnoses, good care, and helping the patient achieve the best quality of life possible, Kouri emphasizes. That is an important point made in an annual program she helped design for the Boston University Medical School, called Common Threads, which aims to educate genetic counselors about how it feels to be on the receiving end of both diagnosis and care. The program makes the counselors aware of “the human story behind the genetic disease,” she explains. One year, the program highlighted the everyday concerns of a teenage girl with Gaucher disease who was both receiving enzyme therapy and looking forward to wearing a strapless gown to her high school prom. She wanted her portacath placed in a spot that would remain covered by the dress, Kouri recalls. “That request might seem insignificant and time-consuming to a busy clinician, but it's actually really important to the patient, who wants to live as well and wholly as she can.”