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Challenges associated with rare diseases

New York residents suffering from a rare disease could spend years seeking answers from health care providers. Rare diseases present patients and their families with diagnostic difficulties because there tends to be limited information about the conditions. Per the National Institutes of Health, a disease fits the definition of being rare if it is identified in less than one person out of 200,000 in the U.S.

At least half of the 30,000 U.S. residents diagnosed with one of the 7,000 identified rare diseases are children. However, it is probable that there are numerous people who have not yet been diagnosed. One of the greatest challenges is the fact that there could be different manifestations of a rare disease for different patients. Symptoms shared by different diseases could create further confusion during diagnostic efforts. There may be a need to be examined and tested by the right specialist.

Some patients might find that the area of specialty needed is also rare, which could limit their access to proper care. People dealing with vague symptoms might feel that the health care system is inadequate, especially if they continue to meet with failure in obtaining a diagnosis.

Although a failure to make a proper diagnosis could under some circumstances rise to the level of medical malpractice, it will be necessary to establish two crucial elements. The first one is that the patient was harmed by such failure, and this can be shown to be the case if the patient's condition worsens. The second element is determining that the health care practitioner or facility did not exhibit the requisite standard of care, and a plaintiff's attorney will often endeavor to establish this through testimony provided by medical experts.

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