Rare and Orphan Diseases and Social Work Practice

Abstract

Social workers in diverse settings provide patients and their families with information, emotional support, and referrals to appropriate resources. When the patient’s condition is undiagnosed or designated a “rare” or “orphan” disease, social workers may face questions similar to those encountered in more familiar diseases. Often, however, they face quite different challenges. An estimated 70–80 percent of rare diseases are genetic in origin, influenced not only by single genes or combinations but also by environmental conditions and infections. In the United States, a disease is considered rare if fewer than two hundred thousand people are affected at a given time. Many countries have higher or lower thresholds. “Orphan” diseases may or may not be rare by prevalence measurement, but they have not been adequately researched because drug manufacturers consider the costs too high for the low potential customer base. And while most chronic disease patients are adults, especially older adults, rare diseases are often seen at birth, in the first few years of life, or when the child is a teenager. Families may not get an accurate diagnosis for years, while symptoms worsen and even lead to early death. Medical bills mount in frustrating searches for drugs and other therapies still in development or not yet on the drawing board. Despite these barriers, it is an exciting time to be involved in rare diseases. Since the late twentieth century, new technologies have added new research possibilities, and new funding for drug development is becoming available. For social workers, it is an opportune time to apply their skills and knowledge of human behavior and emotional and resource needs to a growing field. It is also a time when major social, economic, and demographic changes are being newly addressed in health care. The comparatively small number of patients diagnosed with each of the estimated seven thousand to ten thousand rare diseases identified so far has stimulated many national and international collaborations, some cited in this article. Many of these are patient and family centered, areas that benefit from social work input. And this knowledge has stimulated new questions about the role social workers and patients/families can play in research and advocacy, how to influence public policy, how to combat stigma and discrimination, and other ethical and practical problems. These are challenging times for experienced social workers and those new to the field; but collaborating with colleagues in health care and related fields, they can offer help and hope to patients, families, and communities.