Getting treatment for a rare disease

For many New York residents who are suffering from a rare disease, getting treatment can be very difficult. However, advocacy groups are working to get legislation passed that would help those suffering from a rare diseases to seek treatment.

A rare disease is defined as a disease that affects fewer than 200,000 individuals in the U.S. Approximately 30 million people suffer from some rare disease, meaning that 1 in every 10 to 12 persons have a disease that is classified as "rare." There are approximately 6,000 known rare diseases, each of which had a broad range of symptoms that can vary by individual. Because they are often not well known, it can be very difficult for patients to get the correct treatment for their disease if their doctor does not recognize the symptoms.

Seeking appropriate treatment may also be difficult if the pharmaceutical remains undeveloped due to having a potential low profitability. Since the passing of the Orphan Drug Act of 1983, however, more than 500 drugs have been approved by the FDA for the treatment of rare conditions. Many other drugs are also being investigated as potential treatment options even though they have not been approved.

Those who suffer from rare diseases may end up with a delayed diagnosis if the doctor was not familiar with the disease. Not only can a delayed diagnosis impact a patient's life, but it can also prevent a patient from getting the treatment that may actually result in some form of relief from the symptoms. An attorney who has medical malpractice experience can consult with medical experts to see if the delay constituted actionable negligence.