Rare diseases and diagnostic errors

New York residents who suffer from rare diseases face several obstacles. These illnesses may have less research devoted to them. Since they are rare, doctors often misdiagnose these conditions or a correct diagnosis is delayed, leading to potential harm.

The National Institutes of Health classifies diseases as rare when fewer than one out of 200,000 Americans have them. Half of the people who are diagnosed with rare diseases are children, and there are more than 7,000 conditions that are identified as rare. It is estimated that 30 million people in the U.S. suffer from rare diseases.

When a disease is rare, doctors are less likely to recognize the symptoms, leading to failures to correctly diagnose the condition. People sometimes go for years without getting the correct diagnoses. They may be subjected to harmful treatments when they are misdiagnosed as having different conditions. Some people also end up having worse prognoses when the correct diagnoses are delayed. One issue is that some rare diseases may evince with a variety of different symptoms, meaning that doctors may have greater difficulty with diagnosing them. In addition to not knowing what ails them, patients with some rare diseases are in constant pain.

A failure to diagnose an illness could constitute negligent medical treatment on the part of a health care practitioner or facility. An attorney representing a patient who has been affected in this manner must demonstrate that the patient has been harmed by such a mistake, and that the improper diagnosis represented a failure by the doctor or hospital to exhibit the requisite standard of care.