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Diagnosing and treating rare diseases

New York residents may be interested to learn that approximately 30 million people in the U.S. are living with a rare disease. That adds up to about one in every 10 to 12 Americans. The "rare" distinction is defined as a condition that affects fewer than 200,000 individuals.

Because rare diseases are extremely uncommon, they are more likely to be misdiagnosed by a doctor. Additionally, once a rare disease is diagnosed, there are often very few treatment options available. Occasionally there are orphan drugs, or drugs that are not commercially developed, that may treat certain rare diseases. Since the Orphan Drug Act of 1983, more than 500 drugs that treat rare diseases have been developed.

Before a drug for a rare disease can be released commercially, it must undergo clinical trials. First, a study must be completed to determine if the drug is safe for use. A second study determines the optimal dosage of the drug. Finally, a broader study is completed to determine the drug's efficacy. Some advocacy organizations assist with this process by creating patient registries that can be used to gather data about the long-term outcomes of the drug.

A misdiagnosis of a rare disease can result in a delay of treatment. If the misdiagnosis results in harm to the patient, he or she may file a medical malpractice lawsuit against the health care provider and hospital where the misdiagnosis was made. If the patient must undergo more aggressive treatment due to the misdiagnosis, they could potentially seek compensation for their medical costs as well as pain and suffering.

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