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Facts about rare diseases

The subject of rare diseases is something that many people generally do not consider. This is partly because the media does not offer much information about the topic and because many people in Connecticut and around the country are unaffected by a rare disease. However, a rare disease can have a heavy impact, not only on the victim, but also on the victim's family members.

Although the National Institutes of Health classifies a disease as rare if it affects fewer than one out of every 200,000 individuals within the United States, more than 30 million U.S. residents actually have one. The NIH lists more than 7,000 diseases as rare, and half of those who suffer with a rear disease are children.

Those who are affected with a rare disease face many difficulties. The first and hardest one is finding a diagnosis, not only because of the nature of the disease but also because there is a limited amount of specialists available to help rare disease victims. A general medical practitioner is trained to look at a patient's symptoms, which, in many cases, may resemble a common disease.

One example is a person who was suffering with a rare disease known as Postural Orthostatic Tachycardia. The patient underwent nine years of visiting more than two dozen doctors before she was correctly diagnosed. These doctors evaluated and tested her but had no answers. In many instances, doctors who cannot give a diagnosis may even tell patients that they are making up their symptoms.

People suffering from a rare disease could become progressively worse if their physician gives them a misdiagnosis or fails to diagnose them in a timely manner. In such cases, a patient might wish to meet with an attorney to see if the filing of a medical malpractice lawsuit would be advisable.

Source: The Megaphone, "Why and How to Care about Rare Diseases", Kayla Ingram, Oct. 20, 2016

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