An overview of rare diseases

Arizona residents dealing with rare diseases may face a variety of medical challenges. Some are connected to the actual symptoms of these diseases. Others stem from difficulties the medical community may have in developing drugs and treatments for addressing these conditions. An individual suffering from a rare disease can struggle when the medical establishment is uneducated or lacks commitment in providing relief.

In the United States, a rare disease is so classified because it affects a population of less than 200,000 people in the country. While a given illness might affect a small number of people, as many as 10 percent of U.S. residents suffer from various rare diseases. Drug development for a given disease can be rather challenging because the limited number in need of treatment affects the economic value of developing such drugs. Fortunately, the federal Orphan Drug Act offers help in promoting the advancement of commercially undeveloped drugs. Further, advocacy organizations are integral in promoting the needs of those dealing with rare diseases. Clinical trials are also used to assist in cultivating treatments for these diseases.

The unknown nature of many of the 6,000 rare diseases means that it is quite possible for misdiagnosis to occur. In many of these cases, a lack of awareness can contribute to problems in arriving at a correct diagnosis. Medical malpractice might be a concern as a patient discovers that a physician has missed the signs of a rare disease. However, a missed diagnosis or misdiagnosis alone does not necessarily imply malpractice.

An individual considering legal action over a medical situation involving a disease diagnosis might need legal assistance in determining whether harm has been done because of an alleged diagnostic error. To be successful in a malpractice action, it will need to be demonstrated that the health care practitioner failed to exhibit the requisite standard of care.