From ignorance to the world’s most expensive drug

In Europe, a disease is considered rare if it affects no more than 5 out of 10,000 people. While each rare disease is rare in its own right, there are more than 5,000 diseases in total and therefore 6-8% of the population – about half a million people in Switzerland, as many as people with diabetes – suffer from at least one rare disease. affected disease. About 75% of those affected are children and teenagers. Other rare diseases manifest themselves only gradually in adulthood and can affect any of us.

How are rare diseases defined?

Rare diseases usually cause symptoms in childhood, often take a chronic course, and are often associated with significant impairments in quality of life and life expectancy. Many of these are genetic diseases with complex symptoms, difficult to interpret, and difficult to diagnose and treat. It takes an average of 6-8 years for people with a rare disease to receive the correct diagnosis and therefore to receive appropriate treatment. Those frequently affected see more than 7 doctors, and around 40% of patients receive at least one misdiagnosis during this time, and early diagnosis and treatment are often crucial, especially when it comes to rare diseases. It is much more important to raise awareness about these diseases and to research treatment options intensively.

Diagnosis, care and research are difficult

The Swiss healthcare system covers many things exemplary. Despite this, it struggles with rare diseases in diagnosis, care, treatment and research. Only a (fractional) proportion of those affected have an accurate diagnosis and based on that there is optimal disease management or even effective treatment. Current events, such as the pandemic, bottlenecks in drug supply, and shortages of doctors and nurses, particularly affect people with rare diseases, as their anxiety threatens to abate more than usual times.

Rare diseases become a political issue

In recent years, the issue of “rare diseases” has become more and more a political issue, although unfortunately the needs of those affected have not been focused on. An example of this is the prices of several existing drugs for the rare hereditary disease hemophilia, which reached a new exorbitant peak at the end of 2022, making it the world’s most expensive drug ($3.5 million per syringe).

This huge gap between ‘undiagnosed’ and ‘world’s most expensive medicine’ in rare diseases reflects the daily life of those affected and contrasts with society’s interest in good and affordable healthcare. That’s why the People with Rare Diseases Foundation demands equity for all diseases – rare or common – in diagnosis, treatment, prevention and research. No one in Switzerland should be disadvantaged or discriminated against because of their illness.

The People with Rare Diseases Foundation steps in in the field of medical genetics where action is needed. As a result, it has been closing a gap in the Swiss healthcare system since 2012.

Source : Blick