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What’s Wrong With You? Difficulties in Diagnosing Rare Diseases

When you are struggling with symptoms that arise suddenly or which have been progressing over time that have no reasonable explanation by the doctors and specialists you’ve been referred to for treatment, it can be a very frightening, very aggravating time in your life. You know something is wrong with you but you are not able to nail down a diagnosis with any accuracy.

 

Rare diseases affect so little of the population that many doctors are not trained or skilled at handling their diagnosis or treatment. In many cases, patients with rare diseases have been misdiagnosed by the medical community.  When treatment is not working, you may be passed around from one doctor to the next in an effort to find out what is going on.

 

There are many rare diseases which have common symptoms that mimic other conditions. Dizziness, weakness, pain are all related to a multitude of medical problems and the non-specific symptoms make it hard to point to any one problem. You may have symptoms that do not fit into the ‘textbook’ list of symptoms for other less serious conditions. This can lead to your having to plead your case to a bunch of doctors and specialists over and over without any success and no relief from your symptoms. Doctors may continually conclude there are problems of unknown circumstances. It may take getting to a geneticist to have genetic testing completed before you are able to understand what is happening within your body.

 

The National Institutes of Health started the Undiagnosed Disease Program in 2008 to provide research for people that develop mysterious medical conditions and help get answers to what is happening. However, many patients will continue to go through many doctors and specialists before finally securing a proper diagnosis or turning to the NIH for assistance.

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