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Rare diseases affect a surprising number of people

Rare Disease Day is held on the last day of February each year in an effort to raise awareness regarding rare diseases. Each year, a specific theme focuses attention on an aspect of the problem, and for 2019, the theme spotlights bridging the gap between medical, social and support services. There is no way of telling exactly how many Pennsylvania families are directly impacted by a rare disease because individual diagnoses are elusive. However, worldwide, it is estimated that roughly 400 million people are currently living with a rare disease of some form.

World health experts define a rare disease, also known by the term ‘orphan disease,” by the numbers of people so affected. In the U.S., a rare disease is one that affects fewer than 200,000 Americans at any given time. There are over 7,000 different rare diseases that have been identified, and sadly, 50 percent of patients who have rare diseases are children.

Particularly insidious are certain forms of rare cancer, which are in many cases actually subsets of more common forms. Misdiagnosis of these rare forms is all too typical, and proper treatment is delayed in many instances for years. Unfortunately, such a delay in cancer treatment is likely to result in progress of the disease to a point where prognosis for the patient is grim.

Misdiagnosis or delayed diagnosis can be a form of medical malpractice. Although not every medical error of commission or one of omission rises to the level of malpractice, a medical malpractice lawyer may provide counsel to determine if an otherwise preventable mistake negatively impacted the patient’s health and well-being.