Imagine you have a child who's sick. You take your child to the doctor, who takes tests but they can not understand what is wrong, but send your child on. Now a new sampling begins, new examinations and even though you visit doctor after doctor, no one can understand what kind of disease your child has. It can take years for some children to get diagnosed and unfortunately a large part of it has a disease that is not yet discovered by medical science. But all the time new diseases are discovered and how to proceed for a possible further investigation, we tell you more about during the diagnostics.

The undiagnosed diseases are divided into three groups;

People living with undiagnosed diseases are not one single group. Their journeys differ — but they share the same reality: living without answers.

• Undiagnosed due to lack of access or expertise.
  Some individuals remain undiagnosed because they have not yet reached a clinician/geneticist with deep knowledge of rare diseases. With more than 10,000 known rare diseases, expertise and experience matter. When these individuals are seen by the right specialists, many can receive a diagnosis. This group represents part of the approximately 40% of PLWUD for whom a diagnosis is possible today.
   
• Undiagnosed despite the most advanced testing
  For around 60% of PLWUD, the diagnostic odyssey continues even after the latest genomic investigations. These individuals represent the limits of current medical knowledge — and the urgent need for continued research, collaboration, and innovation.
   
• Misdiagnosed 
  Some people are given a diagnosis, but it is the wrong one. Misdiagnosis can lead to inappropriate treatment, delayed care, and lost time. These individuals are also considered undiagnosed, because the true cause of their condition remains unknown.

In the worst case scenario a late diagnosis could lead to irreversible consequences and even be life threatening.

Wilhelm Foundation believes that people living with undiagnosed diseases (PLWUD) have the right to a diagnosis, and works to combat undiagnosed diseases.