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Diagnosis and treatment of rare diseases

Pennsylvania patients that have a rare disease may not receive a correct diagnosis for many years after they begin to show symptoms. A diagnosis can be difficult with rare diseases because doctors are often unaware that they exist. Once a person is diagnosed with a rare disease, the next challenge is finding a doctor who specializes in it.

The National Institute of Health classifies more than 7,000 diseases as rare, and there are currently over 30 million people in the U.S. who have been diagnosed with one of these rare diseases. To be considered rare, a disease must affect no more than 1 in every 200,000 people in the country. Because diagnosing rare diseases can be difficult, the actual number of people in the U.S. who are suffering from them is unknown.

People who have been diagnosed with rare diseases like Postural Orthostatic Tachycardia and Ehlers-Danlos Syndrome may have delays in treatment even after they are diagnosed. That is because doctors that specialize in the treatment of certain rare diseases are few and far between, and these doctors are often overbooked. Some people with rare diseases are dropped by their primary care doctors because the doctors do not know enough about the diseases to treat them.

Even if a patient has a rare disease, the patient's doctors can still be liable for injuries that were caused by misdiagnosis. An attorney may be able to help a patient to review their medical records and determine whether a doctor's failure to diagnose a rare disease could be considered medical negligence.

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