Who helps in cases of rare disease?

November 2014

According to the European definition, a disease is considered rare when fewer than 5 in 10,000 people suffer from it. In Germany, about four million people are affected by one of some 6,000 – 8,000 different rare diseases.

For these patients and/or their families, it is often no simple task to find a physician familiar with their disease. This results in an odyssey from physician to physician, with many misdiagnoses, and thus, unsuccessful treatments, along the way.

"With the Center for Rare Diseases (ZSE) at Heidelberg University Hospital, three years ago we have established a contact point for patients, families, and referring physicians,” says Prof. Georg Hoffmann, Medical Director of the Center for Child and Adolescent Medicine and spokesman of the Center. Here, medical and scientific specialists of various disciplines have coordinated their efforts to offer patients precise diagnosis, individualized therapy, and comprehensive care. Toward this end, the collective expertise and equipment of a modern academic medical center are at our disposal.

The goal of our intensive research – closely networked with partners in Germany and internationally - is to foster rapid implementation of new knowledge regarding the development and progression of rare diseases, through new diagnostic and therapeutic approaches for patients. For many diseases, thus, there are available opportunities for our patients to participate in clinical trials.

There is a need for further expansion of the Center. Since its opening in 2011, the number of consultation requests has continually increased. In 2013, there were more than 400. More than half of the patients could be assisted, most in the specialized Centers at Heidelberg University Hospital.

Overall, every tenth patient of the Hospital is diagnosed and treated for a rare disease. The most well-known of these include cystic fibrosis and congenital metabolic or heart conditions, but also rare rheumatic diseases, diabetes, or cancer in children.

From the coordinating unit of the Center, patients can be referred to one of the 14 participating individual departments within the Hospital or to colleagues at other academic medical centers. "The goal is to expedite the procurement of a diagnosis and qualified assistance for affected individuals", says Professor Hoffmann.
 

Contact for Physicians:
Dr. Pamela Okun
Center for Rare Diseases
Heidelberg University Hospital
Im Neuenheimer Feld 153
69120 Heidelberg
Germany