What is an Undiagnosed Disease

What is an undiagnosed disease?

An undiagnosed disease is a medical condition without a known cause, even after many tests and visits to different specialists. About 30 million people in the U.S. live with a rare disease. A portion of those people live with an undiagnosed condition. Researchers estimate about 80% of undiagnosed diseases have a genetic cause.

Why are some diseases difficult to diagnose?

A condition can be hard to diagnose if:

• It is a rare disease. Ultra-rare diseases that affect fewer than 1 in 50,000 people are especially difficult to diagnose since most doctors are unfamiliar with them. 
• Symptoms are atypical of a known condition. 
• The disease hasn’t been discovered or published in medical literature.  
• Patients can’t get the right tests or travel to see rare disease specialists. Barriers for patients can include insurance, financial, and health issues. 

What are the symptoms of an undiagnosed disease?

About 40% of UDN applicants have neurologic symptoms, making these the most common symptoms of UDN patients. Other symptoms can affect any body system, such as the immune system, heart or vascular system, or gastrointestinal tract. 

Patients often have multiple symptoms with no diagnosis or multiple diagnoses from different specialists. They often hear doctors say that they or their child is a medical mystery.