Rare diseases: From undiagnosed to the most expensive drug in the world

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In Europe, a disease is considered rare if it affects no more than 5 in 10,000 people. Although each rare disease is rare in itself, there are more than 5,000 rare diseases in total, so that 6-8% of the population (about half a million people in Switzerland, the same number as people with diabetes) has at least one rare disease. affected disease. Approximately 75 percent of those affected are children and young people. Other rare diseases appear gradually in adulthood and can affect all of us.

How are rare diseases defined?

Rare diseases usually cause symptoms in childhood, are often chronic, and are often associated with significant impairments in quality of life and life expectancy. These are often genetic diseases with symptoms that are complex and difficult to interpret, and whose diagnosis and treatment represent great challenges. It takes an average of 6 to 8 years for people with a rare disease to receive a correct diagnosis and therefore access appropriate treatment. Those affected often see more than 7 doctors and approximately 40% of patients receive at least one misdiagnosis during this time, and early diagnosis and treatment is often vital, especially for rare diseases. This makes it even more important to raise awareness of these diseases and conduct intensive research on treatment options.

Diagnosis, care and research are difficult

The Swiss healthcare system covers many things in an exemplary way. However, rare diseases are overwhelmed in terms of diagnosis, care, treatment and research. Therefore, only a small proportion of those affected receive an accurate diagnosis and, accordingly, optimal disease management or even effective treatment. Current events such as drug supply shortages and shortages of doctor and nursing care particularly impact people with rare diseases, as their concerns are more at risk of being lost than in normal times.

Rare diseases should be recognized

The issue of “rare diseases” has become an increasingly political issue in recent years, but unfortunately the needs of those affected are not the focus. An example of this is the prices of several drugs available for rare diseases; These prices reached a new exorbitant peak at the end of 2022 for the rare hereditary disease hemophilia, making it the most expensive drug in the world ($3.5 million per syringe).

This huge disparity in rare diseases, from “undiagnosed” to “the world’s most expensive medicine,” reflects the daily lives of those affected and contrasts with society’s interest in good, affordable healthcare. That’s why the Foundation for People with Rare Diseases calls for equal treatment of all diseases, whether rare or common, in diagnosis, treatment, prevention and research. No one in Switzerland should be disadvantaged or discriminated against because of their illness.

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

Source : Blick