To be or not to be ... properly diagnosed .........

  ...... that’s the question an estimated 350 million people (1:20) worldwide who suffer from an undiagnosed rare disease ask themselves or their families, friends and caregivers do.

  • Rare disorders present with such an unfamiliar combination of signs and symptoms, that it makes them for most physicians very difficult to diagnose!
  • These rare illnesses are often genetic, debilitating, progressive and/or life threatening.
  • There are approximately 7,000 rare diseases identified.
  • These rare disorders affect <1/2000 citizens in Europe and <200,000 citizens in the US or an estimated 350 million people or on average only 50,000 patients per rare disease worldwide.
  • <1% is diagnosed and an even smaller number is 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 significant lack of knowledge and awareness about these rare illnesses and the reason that this Diagnostic Odyssey in Rare Disorders continues to exist for more than 30 years.

Regardless of how many treatments are available today or will be in the near future, None of these orphan drugs will ever meet the unmet medical needs of tens of thousands of patients around the world if patients are not properly diagnosed in the first place!!!

Main picture: Blue Whales or Balaenoptera musculus are found in all oceans and often swim in small groups or alone. Only 8,000 to 12,000 Blue Whales are estimated to be alive today. They are out there somewhere but sighting them is very rare. The same applies for patients who suffer from a rare disease. They live somewhere but because there are so few per disease, identifying and properly diagnosing them has been a challenge for decades. This analogy created the idea to have the tail fin of a whale tail as the logo for RareMD™.