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The Long Road to Diagnosis

Rare Disease Day sets a marker for the fate of patients

Sabine Pitschula

In the European Union, a disease is considered rare if it affects less than 5 in 10,000 people.1 The term "rare disease" covers a total of around 7,000 different conditions.2 Since only few people worldwide suffer from a specific rare disease, only little is known about many of their disease patterns and diverse symptoms. As a result, rare diseases often remain undiagnosed or misdiagnosed.

From uncertainty to the diagnosis as a turning point

As a consequence, it often takes many years, marked by numerous misdiagnoses, before the right diagnosis is made. Those affected and their relatives often describe this time as particularly difficult: without diagnosis, there is no targeted therapy. The uncertainty and the feeling of being left alone with an unknown disease are an additional and heavy burden for patients.

The right diagnosis usually marks a turning point in their lives. It makes the disease comprehensible: they can begin an exchange with other affected patients and, most important, they finally have the chance of targeted therapy. Therapies with special medication offer many patients with rare diseases the possibility to lead an almost normal and self-determined life.

28 February 2021: Rare Disease Day

Every year, the last day of February is Rare Disease Day. Numerous campaigns are held to raise awareness of rare diseases and their impact on the lives of millions of patients.

CSL Behring has been committed to helping people with serious and rare diseases for more than 100 years. For this reason, we are particularly committed to supporting the Rare Disease Day initiative not only on the day itself, but every day – in order to draw attention to the needs of those affected and to raise awareness of their fate.

1German Federal Ministry of Health, 2021
2Global Genes, 2021