Cystic fibrosis – the first interview

Cystic fibrosis (CF) is the most common lethal genetic disease in the white population, with a prevalence of one in 2500. Approximately 130 patients are given a diagnosis of CF in Canada each year; the majority of cases are diagnosed during the childhood years. There are just over 3000 patients (adults and children) registered with the Canadian Cystic Fibrosis Foundation Patient Data Registry, and the majority are followed regularly in one of 37 CF clinics. Patients are often referred to a CF clinic when the diagnosis is suspected, both to confirm the diagnosis, and to initiate the required treatments and education to manage this life-long disease. Physicians who refer patients to a CF clinic may not be fully aware of what the parents and patients are told about CF at the clinic. The standard hospital discharge summary rarely provides a detailed review of the discussions held with the family, but tends to focus on the medical course during hospitalization. The author believes that it is important for referring physicians to be aware of the information imparted to the family at the time of diagnosis so that they may reinforce recommendations made by the CF clinic and help to answer questions that invariably come up in the future. Because most new diagnoses of CF are made during the early childhood years, the initial discussions are directed to parents, and the present paper focuses on this aspect. Diagnoses of CF made during adolescence and the adult years require more discussions with the patients, but the content is similar. It is imperative that there be as little delay as possible from the time that CF is first suspected until confirmation or exclusion of the diagnosis. Parents experience a great deal of anxiety after the subject of CF is raised, particularly if there has been some family experience with the disease or if a family member is in one of the health professions. Information is often sought from nonexpert sources, outdated library material or the Internet, where the information may be of questionable quality. Parents may initially appear angry when the diagnosis of CF is given. Anger usually occurs when the diagnosis has been delayed, and the child has been having chronic and troublesome symptoms. It may take some time for the physician to gain the parents' confidence. On the other hand, they may have mixed emotions at the time of diagnosis – relief that there now is an explanation for the child's symptoms and despair that they are now faced with a life-long condition that can shorten their child's life. The initial assessment usually consists of a carefully taken history, physical examination, review of pertinent laboratory information and radiographs, and a properly performed sweat test using the gold standard methodology of Gibson and Cooke (1). Guidelines for the performance of sweat tests have been published (2). Borderline sweat test results should be repeated, and two pairs of results should be obtained to aid in the confirmation of the diagnosis. In infants, it is occasionally difficult to obtain an adequate amount of sweat to perform a sweat chloride test. In these situations, genetic mutation analysis can be performed on blood drawn from the child and parents, but can cause further delay. Parents are occasionally not concerned about this delay, believing that there is still hope that the diagnosis of CF will be excluded. If not already admitted to hospital, it is the usual practice in most CF clinics to admit the child at the time of diagnosis. The admission affords the opportunity to treat not only the existing symptoms, but also to educate the parents intensively about the disease and its management. The CF physician responsible for the long term care of the child schedules a time to meet with both parents, if available, and includes the CF nurse coordinator in the meeting. CF is explained in simple, nonmedical terms, and time is allowed to answer questions raised. The length of the first interview should be brief (30 to 40 min) because parents retain little after they hear that their child has a serious, life-long illness. A brief summary of the various organ systems affected by CF is given and an overview of the various treatment modalities is presented. The discussion includes the abnormality of the sweat glands (that provides the basis of the sweat test), and how respiratory and pancreatic function are altered. Standard treatments include the provision of a diet high in fat and protein, fat soluble vitamins, pancreatic enzyme replacements, aerosols and chest physiotherapy, as well as frequent antibiotics for intercurrent infections. For the 10% of patients who have a CF mutation that confers pancreatic sufficiency, parents can be told that the child will not have to take pancreatic enzymes and vitamin supplements. The majority of CF patients (90%) are pancreatic insufficient, and will have to take pancreatic enzymes with meals and snacks for the rest of their lives. Parents are told that CF is a life-long condition that requires regular medical follow-up, including scheduled visits to a CF Clinic. It is important to emphasize to the parents that their child must have a primary physician who is prepared to be the primary medical caregiver and who will liaise with the CF clinic. Children are usually followed in the paediatric CF clinic until 16 to 19 years of age, then transferred to an adult CF clinic. This is an important message to give to the family at the time of diagnosis because it creates the expectation that the child will survive the childhood years and eventually be cared for in an adult setting. Parents are informed that CF clinics in Canada are linked together by the Canadian Cystic Fibrosis Foundation, an organization that was established by parents of children with CF and that is a further source of information (3). The autosomal recessive mode of inheritance of CF is discussed using a simple diagram and includes a family pedigree. It is important to emphasize that the child's CF has been inherited equally from both sides of the family because it is not uncommon for one side of the family to blame the other for the transmission of the CF gene. The parents are told that they are carriers of a CF gene and that the CF gene is common in the population at large, being carried by one in 25 people in the white population. Carriers have no symptoms of CF, but two carriers have a one in four chance of having a child with CF, and all subsequent pregnancies carry the same risk. Some parents may be interested in knowing that the discovery of the location of the CF gene on chromosome 7 in 1989 was largely due to Canadian research. There are now more than 1000 CF mutations, although the delta F508 mutation is the most common, occurring in approximately 70% of the North American CF population. At this point during the interview, parents may ask if there is a relationship between the CF mutation and the severity of the disease. Apart from the fact that certain mutations confer pancreatic sufficiency, it is not possible to predict the outcome in an individual case solely from a specific mutation. At some point during the discussion, it may be beneficial to ask the parents if they or other family members have had previous experience with CF. Inquiring about what the parents have already read or been told about CF is important. This experience or information may colour subsequent discussions and adversely influence the parents' attitude, particularly if it has been negative. The names and specific roles of the members of the CF team are explained to the parents, with an emphasis on the multidisciplinary nature of the management process. The parents are told that they will be meeting each of these individuals during the admission, with each one playing a unique role in the assessment and management process. The CF nurse coordinator arranges for the parents to attend teaching sessions with the physiotherapist, nutritionist and medical social worker, and introduces them to the CF secretary who arranges clinic appointments and is often the point of first telephone contact for the parents in the future. During admission to the IWK Health Centre, Halifax, Nova Scotia, the CF nurse coordinator takes the parents on a tour of the CF clinic, and discusses the role of the pulmonary function laboratory and the pharmacy services. Parents frequently ask how long their child will be in the hospital, and what additional tests and treatments are required. The duration of the hospitalization depends partly on the availability of team members and parents for the teaching sessions (usually a minimum of four to five days), and partly on the medical or surgical requirements of the child. Rarely, an infant who is newly diagnosed with CF with a complicated surgical course following meconium ileus may be in hospital for months. In most cases, it is possible to give an educated estimate of the duration of the hospital stay, and this allows parents to schedule family and work-related responsibilities. The need for additional investigations depends on the individual case, but will usually include a chest x-ray, pulmonary function tests (for older children), blood chemistry, genetic mutation analysis, sputum or throat cultures and, in many cases, a 72-h stool collection to measure fat excretion. Parents are often concerned about the financial effect of a diagnosis of CF. They are told that government pharmaceutical support programs are available in Canada, but vary from province to province. Details can be provided during a subsequent discussion. Some parents will ask about the survival of patients with CF, while others do not want to bring up the subject during the initial discussion. It may be sufficient to say that much has changed in CF management, with improved survival over the past 25 years; most children who are given the diagnosis today will survive to adulthood, and some may live to the third and fourth decade of life or beyond. It is important to ensure that parents have not been misinformed about this subject, particularly if they have been reading outdated literature. Issues such as sterility in males, long term issues of CF-related diabetes mellitus, osteoporosis and the occasional occurrence of liver disease can usually be discussed at a future date. As much as parents are concerned about the future for their child with CF, their immediate concern is the child's well-being and dealing with current problems. Parents are told that they can notify family and close friends about the diagnosis in a timely fashion. It is worrisome when parents try to hide the diagnosis, and does not speak well for the family's ability to cope with CF in the future. The practice at IWK Health Centre is to advise contraception for at least two years, until the family has had sufficient opportunity to adjust to caring for a child with a chronic disease. Family planning issues can be discussed at a future date when the subject is raised by the parents. It is important to inform the parents that genetic counselling for members of the extended family is available, particularly for those individuals who wish to determine their carrier status and risk of having a child with CF. An appropriate referral can be made to a clinical genetic service. Siblings of the affected child should have sweat tests performed, despite the parents' protestations that they are healthy. Sibling diagnoses of CF are occasionally made in these situations. A medical social worker should be involved early, initially to assess the family's strengths and weaknesses, but also to provide support and guidance. CF care in an unstable family situation can be problematic. Children growing up in such an environment often do not do as well as those from a strong, supportive family. Reading material, such as that available from the Canadian Cystic Fibrosis Foundation, is provided to the family at the first interview, and parents are urged to write down any questions that need to be discussed at subsequent appointments. Parents of a child who has just been given the diagnosis of CF and who are health professionals should be dealt with as parents first, and health professionals second. It is important not to create higher expectations for such parents because of their educational background. At the IWK Health Centre, the parents are told that a follow-up discussion will occur in 24 h, usually with the CF nurse coordinator, who can elaborate on some of the issues discussed and answer questions. Parents occasionally request that grandparents or other family members participate in the discussions and teaching sessions. It is important to take the opportunity to educate other family members because they may provide much needed support in the future. The first interview sets the stage for a long relationship between the CF team and the family – a relationship that lasts, in most cases, until adolescence when transfer occurs to an adult CF clinic. Team members must be optimistic and emphasize a positive approach to CF care. Experience has shown that the outcome of the first interview will often give an indication as to whether the family will cope successfully with a child's diagnosis of CF.

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