Anyone who is ill goes to the doctor and receives a diagnosis and therapy. With some diseases, however, this is anything but easy. Rare Disease Day on Friday (February 28) draws attention to this.
Achalasia, histiocytosis or Usher syndrome: These are diseases most people have never heard of. Unfortunately, doctors often feel the same way. Many of the approximately four million people who suffer from a rare disease in Germany are never diagnosed. “Those affected feel the uncertainty of not knowing what they have as unnerving,” explains Rania von der Ropp Alliance of Chronic Rare Diseases (Axis). When a diagnosis is made, it took an average of seven years for doctors to correctly interpret the symptoms.
It is not easy for patients to initially recognize that something is wrong with their diagnosis. But there are some clues: “If the doctor can’t find a name for the disease and the symptoms and refers it to the nearest specialist, then that’s a warning signal,” says von der Ropp. It is not uncommon for those affected to be mistaken for fakers. That and the lengthy search for a diagnosis can lead to psychosocial problems and isolation.
“A rare disease means an odyssey from doctor to doctor,” explains von der Ropp. The fact that those affected are sent from specialist to specialist makes a diagnosis more difficult. In her opinion, it would make sense for doctors from different disciplines to examine difficult cases together.
But even with a diagnosis, those affected often cannot be helped: About 80 percent of rare diseases are genetic and therefore incurable, says von der Ropp. In addition, there is only a treatment for a few 100 of the 6000 to 8000 rare diseases. The reasons for this are also of a business nature: “There is very little interest in researching diseases with very few sufferers.” The sales market for medicines and therapies is too small.
Those affected should therefore definitely take action themselves. In recent years, more than ten centers for rare diseases have been set up across Germany. Mostly located at university hospitals, doctors from various disciplines have joined forces here to provide better care for patients with rare diseases. The goals are a faster route to diagnosis, the best possible interdisciplinary treatment and associated research projects to develop therapies.
There are also self-help organizations for many rare diseases: Contrary to what is often assumed, these organizations do not just focus on the exchange among themselves. Self-help organizations for rare diseases can usually provide information regarding experts and are often up to date on research projects worldwide. In addition, they usually know what helps and what harms certain diseases. “Those affected become experts on their own illness and can provide important assistance to those affected,” says von der Ropp. (dpa)