The diagnostic odyssey

 

Rare diseases are often genetic diseases. Most of them are chronic, debilitating, progressive and/or life threatening. Rare disorders present with an unfamiliar combination of signs and symptoms which for most physicians makes them very difficult to diagnose!

There are approximately 7,000 rare diseases identified that affect about 350 million people or on average 50,000 patients per rare disease worldwide. Rare diseases affect <1/2000 citizens in Europe and <200,000 citizens in the US.

Fewer than 1% are diagnosed and an even smaller number are adequately treated. 75% of the people affected are children. 30% of these children will not live to see their 5th birthday.

Patients are often referred to numerous physicians and subjected to multiple, costly and sometimes unnecessary medical tests.

There is a significant lack of knowledge and awareness about these rare illnesses and this is the reason that this Diagnostic Odyssey in Rare Disorders continues to exist for more than 30 years.

There is a consensus amongst various key opinion leaders and other stakeholders in the rare disease community that this dilemma needs to be addressed and solved, sooner rather than later.