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Difficulties for those dealing with rare diseases

North Carolina health care professionals treat numerous conditions, but rare diseases can be particularly challenging to address. A disease is classified as rare if it affects less than one out of every 200,000 U.S. residents. Since many doctors have limited experience with rare diseases, diagnostic efforts can be difficult.

Approximately half of the 30 million Americans dealing with rare diseases are children. The number of rare diseases currently identified exceeds 7,000. However, it is possible that there are many more individuals dealing with such diseases who have not yet been diagnosed. Further, new conditions could be added to the list of rare diseases over time. At times, symptoms can vary greatly from patient to patient. In other cases, symptoms could mirror those of other diseases, which could cause a misdiagnosis.

In some situations, an uncertain practitioner might fail to diagnose a disease in the early stages of an investigation, and a correct diagnosis could take many years. A disease does not have to be rare to be elusive. A patient could be sent to various specialists for second and third opinions or to evaluate new or recurrent symptoms. In many cases, patients dealing with such fruitless efforts could get discouraged or even angry at the lack of results. While it may be tempting to suggest that a practitioner has engaged in medical malpractice, it is important to consider whether there has been negligence in the treatment process.

A provider who continually seeks to find answers and recommend appropriate tests may be less likely to be viewed as negligent than a practitioner who discontinues efforts because of a lack of answers. Legal advice can be important as an individual considers whether a practitioner's failure to diagnose warrants a medical malpractice claim.

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Daniel Pleasant Holoman LLP

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