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Rare diseases and the challenges in diagnosing them


Some diseases can have obscure symptoms, which may cause diagnostic difficulties for Oregon health care providers. Others are difficult to pinpoint because they are not very common. A disease is deemed to be rare if it occurs in less than one person per 200,000 in the United States population. The National Institutes of Health indicates that more than 30 million individuals in the U.S. suffer from rare diseases.

A patient presenting with symptoms of one of the 7,000 rare diseases currently on record might encounter a problem with obtaining a firm diagnosis. Some diseases can present differently in different patients, making it tough to recognize patterns. In many cases, patients will seek help for symptoms with one specialist only to be sent to another. Multiple doctors and extensive tests don’t guarantee that clear explanations will be achieved.

Some physicians might consider dismissing patients possibly suffering from rare diseases because of an inability to solve their health problems. Others might offer solutions that lead to ongoing therapies that are expensive but ineffective. Still others might recommend seeking treatment at specialty hospitals, especially if there is no access to the right specialists in their own communities. Even with extreme efforts to find answers, the outcome could be a misdiagnosis.

Diagnostic difficulties can also occur with diseases that are not necessarily rare. Obscure arthritic complaints in a teenager, for example, might be dismissed as growing pains. Fatigue in a young adult might be viewed as a failure to eat well and get enough sleep. While these explanations could be realistic, there could be more serious health conditions in play. Patients who have been harmed by a failure to make a proper diagnosis may want to meet with a medical malpractice attorney to see what legal recourse they may have.