Share your colours!

Every year on the last day of February, the Rare Disease Day takes place. The goal is to raise awareness about rare diseases and the impact they have on patients' lives. Why rare diseases do not only concern the few people affected, but all of us, is vividly shown by the statistics.

There are more than 6000 different rare diseases. In Europe, "rare" by definition means 5 patients per 100,000 people, so each disease alone does not affect many people. However, there are between 263-446 million people worldwide living with a rare disease, which is 3.5-5.9% of the total population! This already excludes rare cancers, infectious diseases and poisonings. In Germany alone, four million people live with a rare disease.

In 2009, the first "Center for Rare Diseases" was established in Germany as a port of call for these four million people, and there are now 35 centers throughout Germany. These serve as centers of contact for diagnosis, specific questions or therapies. Nevertheless, the diagnosis of a patient with a rare disease takes five years on average. For the patient, these years are full of insecurity, fear and uncertainty.

But there is also hope for all those affected by rare diseases: Around one-third of the newly approved drugs in the past five years are orphan drugs. More will follow in the next few years, while there are currently almost 2,400 orphan drugs in the pipeline. The Alliance of Chronic Rare Diseases (ACHSE e.V.) serves as a voice and mediator for patients and is a network for numerous self-help organizations that focus on individual diseases. In addition, there are organizations such as the National Action Alliance for People with Rare Diseases (NAMSE), that has created an action plan for improving diagnosis and treatment options with recommendations and proposed measures for the German Federal Ministry of Health.

Some of the rare diseases can be prevented or are curable, others are chronic or lead to premature death. Although the group of rare diseases is very heterogeneous, it has one thing in common: not much is known about them.
The mission of SKC consulting is to facilitate that patients with diseases for which no or only limited treatment options are available receive access to effective treatments. That's why we want to continue to raise awareness about rare diseases again this year. We already featured six rare diseases for last year's Rare Disease Day - so there are more than 5994 rare diseases still waiting to be presented.

Sources:

• Bundesministerium für Gesundheit: Seltene Erkrankungen
• Verband der Universitätsklinika Deutschlands: Seltene Erkrankungen in Zahlen und Fakten
• European Journal of Human Genetics volume 28, pages 165–173 (2020)
• Vfa: Medikamente gegen Seltene Erkrankungen