CYSTIC FIBROSIS

Since its initial description by Dorothy Anderson in 1938, cystic fibrosis (CF) has been transformed from a lethal diagnosis in infancy to a chronic but ultimately fatal disease of children and young adults. Although the precise mechanism of action is under dispute, the genetic mutations in CF cause abnormalities in a protein expressed on epithelial cells, which occur throughout the body but are particularly important for normal functioning of the respiratory and digestive systems. The disease is autosomal recessive, with a high carrier frequency and more than 1,000 different mutations. One of every 25 Caucasian Americans is a carrier, and one of every 2,500 Caucasian newborns will develop the disease. The mean age at death forCF is now approximately 29 years; the most common cause of death is respiratory failure. Pressure to expand newborn screening is increasing in the United States, supported by those who believe that it prevents so-called late diagnoses; there is as yet no consensus that treatment in early infancy will improve overall survival.

As the patient population ages, chronic symptoms have begun to surface, any one of which can lead to significant disability. Common symptoms include diabetes and its complications, chronic sinusitis, osteoporosis with resulting rib fractures and vertebral compression fractures, hepatic disease, gallbladder disease, chronic hemoptysis, chronic pancreatitis, and chronic pulmonary infection leading to respiratory failure. In addition, previously well-known complications of CF, such as male infertility, have begun to have a more significant impact in the young adult population. Chronic pain, primarily due to headache and chest pain, has also become more frequent.

With the transformation of CF from a cause of early death to a chronic illness, issues of psychosocial adaptation and development become more prominent. The peculiar trajectory of CF compounds the developmental challenges of an adolescent with chronic illness: the respiratory symptoms, and the intensity of medical interventions, usually accelerate at just the time adolescents seek increased independence from parents and caregivers. Adherence to a medical regimen thus becomes more important when resistance to such a regimen may be maximal. Adaptation to changing levels of independence brought about by a fluctuating disease trajectory can greatly complicate other developmental challenges such as schooling, independent living, family life, sexuality, and employment. The psychosocial challenges of advancing CF can place great stress on other family members, some of whom may also have the disease.

The most common illness trajectory in CF is one of intermittent acceleration of symptoms superimposed on a gradual decline in lung function. The paradoxical combination of short-term uncertainty and long-term clarity about outcome makes medical decision making difficult for families and caregivers. The increasing availability of aggressive therapies, including lung transplantation and assisted ventilation (especially so-called noninvasive methods such as BiPAP), has [Page 339]disrupted the previous consensus against the use of technological interventions in the final months of life. Decisions regarding lung transplantation, especially those that involve donation of lung lobes by family members, are particularly challenging. As well, in an era of increasing technological intervention, those who wish to decline aggressive treatments in favor of quality-of-life measures may find it difficult to interact with a technologically driven medical system.

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