Rare diseases are not so rare at all

03/01/2015

On February 28, the day of rare diseases took place. Many of these diseases are life-threatening and also mostly incurable. Around four million people in Germany suffer from a rare disease. In the future, a new supply Atlas on the Internet should facilitate the treatment.

Four million Germans suffer from rare diseases
According to the European definition, a disease is considered rare if it affects less than five in 10,000 people. It takes an average of seven years for a patient to get the right diagnosis, as the "World" writes in a recent article on the topic. Around four million people in this country suffer from one of the approximately 6,000 rare diseases that so far have a name. Across Europe, 30 million patients are affected. Lacking specialists and often effective therapies, diagnosis is often difficult and lengthy. The research is expensive and not very lucrative for the pharmaceutical industry. According to the information, most of the "rare" are incurable. In addition, many are life-threatening and chronic.

The patient receives the correct diagnosis only after years of pain
The newspaper writes about the afflicted Jana Seifried, who stated: "As a child, I was considered spoiled and nagging at the table." She always instinctively ate always food that slipped slightly. When she was in her early 30s, she was in massive pain and at some point she only got pudding, ice or cream and finally suffered from severe obesity. When she went to a clinic during her puberty because of the unbearable pain of eating, she was assigned to the psychosomatic department for weeks with "unclear origin". Only years later did Mrs. Seifried finally have her diagnosis: achalasia, an incurable movement disorder of the esophagus, which leads to enormous swallowing problems. Today, the Berliner is very emaciated and is fed via a probe and a port. She no longer has her esophagus. Since further complications also required removal of the stomach and small intestine, it is now a piece of her large intestine that has been sutured to the base of the tongue and acts as a gullet. "I can eat small amounts of pureed baby fruit," says Seifried. "But the colon piece is practically a dead drainpipe."

21 specialist centers for various rare diseases
The patient is now getting morphine for the severe pain. "My hope is a small bowel transplant," she said. However, the chances are bad. As an advisory board member of the Alliance of Chronic Rare Diseases (ACHSE e.V.), a nationwide network for those affected and their families, Annette Grüters-Kieslich is well acquainted with such cases. The professor heads the Department of Paediatrics at the Berlin Charité with a focus on endocrinology and diabetology. In this role she also treats children with rare diseases. "Coordination plays an essential role in rare diseases. We have inquiries from outside and inside, from doctors and patients. And if the symptoms are unclear, we hold a case conference with representatives of various disciplines. "The 21 specialist centers focusing on various rare diseases (SE) are also networked nationwide. "But a lot is still under construction within the framework of the National Action Plan," says Grüters-Kieslich.

Medical Supply Atlas should facilitate treatment
Since the 28th of February, when the "Day of Rare Diseases" took place, there is the possibility for physicians and affected persons to get an overview of the care options online at www.se-atlas.de. This medical care atlas should facilitate the treatment of patients with rare diseases. The physician Christine Mundlos, who works at the Charité for ACHSE, is a Lotsin contact for doctors who seek advice. While on the affected phone of the AXIS 800 to 1,000 inquiries a year run up, report to the Lotsin about 90 people. "What worries us is that the proportion of unclear diagnoses is increasing" - since 2006 from 15 percent to 25 percent. An interesting method, how to get better the correct diagnoses, is practiced in Hesse. There, medical students are used as diagnostic detectives at the "Frankfurt Reference Center for Rare Diseases" (FRZSE). Since the budding physicians do not think in pre-made patterns and do not look through the specialized glasses, they consider more options and often recognize rare diseases better than older, more experienced physicians. (Ad)