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Understanding rare diseases

According to statistics, around one in every 10 to 12 people in New York and across the United States are living with a rare disease. In the U.S., a rare disease is defined as any condition that affects less than 200,000 people. The European Union considers a disease to be rare if it affects 250,000 people or less.

There are more than 6,000 rare diseases on record. Unfortunately, these conditions are often misdiagnosed because a doctor may not be familiar with the symptoms. Even in cases where a correct diagnosis is made, a doctor may be unfamiliar with the proper treatments for the condition. Many rare diseases have no known cures and few treatment options.

Some rare conditions can be treated by "orphan drugs," which are pharmaceuticals with limited potential for profitability because they are aimed at a small percentage of the population. In 1983, the U.S. passed the Orphan Drug Act to facilitate the development of drugs for rare conditions. Since then, over 500 orphan drugs have been approved by the FDA. Patients with rare diseases may qualify for clinical trials that test the health outcomes of drugs and treatments. They can also elect to be placed on a patient registry for their disease, which provides researchers important data on disease history, treatment efficacy and long-term outcomes. People with rare diseases are encouraged to research their conditions, beginning with the educational materials offered by established organizations such as the National Organization for Rare Disorders, the National Institutes of Health and the FDA.

New York residents who have suffered a worsened condition due to the misdiagnosis or delayed diagnosis of a rare disease may wish to speak with an attorney. In some circumstances, it may be possible to file a medical malpractice lawsuit seeking compensation for medical expenses, pain and suffering and other damages.

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