With several thousands of rare diseases cataloged in the medical community, there are still some symptoms that baffle doctors and patients alike. Many times rare conditions are hard to diagnose, leaving patients frustrated having to go from one appointment to the next hoping for some help. Many patients with rare diseases and conditions will end up being misdiagnosed multiple times before they begin to get answers.


Rare diseases which are particularly difficult to diagnose when doctors are unfamiliar with them can make daily life difficult for people suffering from the condition. Not only do they have to deal with the potentially debilitating medical conditions that affect their normal activities, they also have to deal with the mental fatigue not knowing what exactly is wrong with them or if they problems are going to prove fatal.


Living with any kind of chronic medical condition or chronic pain can make it difficult to show up for work each day and perform your normal work activities. Without a proper diagnosis, it can be difficult to obtain Social Security disability benefits. This can leave you stuck without the income or insurance necessary to continue seeking a diagnosis.


If your doctor is unsure as to what is wrong with you or not certain as to how to treat you, continue to seek treatment with a specialist or a geneticist until you finally can get answers. While many rare diseases are treatable if caught early, many will progress to the point you can no longer function normally and become permanently disabled.