Wir überwinden Grenzen

Intensive research into the causes and therapies of rare diseases is being carried out at the Medical Center - University of Freiburg, which directly benefits those affected / Rare Disease Day on February 29th

Just five in 10,000 people may suffer from a disease for it to be considered rare. Often there are far fewer people. Nevertheless, in Germany alone, around four million people are affected by one of the approximately 6,000 rare diseases. At the Medical Center - University of Freiburg, the development and treatment of rare diseases is being investigated in many areas, including the Gain research network (German multi-organ Auto-Immunity Network). Here, scientists are investigating genetic, epigenetic and environmental factors of very rare inflammatory diseases. The Mypred research network ("Optimizing care for young individuals with syndromes predisposing to myeloid malignancies") is investigating the development of blood cancers with a genetic predisposition. This is more common than initially thought, particularly in children, adolescents and young adults with blood cancer.

"The Medical Center - University of Freiburg has long had a focus on researching and treating rare diseases. Here, basic research and therapy are combined in a particularly close way," says Prof. Dr. Frederik Wenz, Chief Medical Officer of the Medical Center - University of Freiburg. Several examples show positive developments in the field of rare diseases.

After 20 suspicions, finally the correct diagnosis

When Anna-Lena* was born, it was clear from the very first night that something was wrong with her, her mother recalls. Even then, her nose was blocked and she was having difficulty breathing. In the years that followed, many physicians puzzled over what illness the girl had. Around 20 suspected diagnoses were made and rejected; once even the correct one. Only Prof. Dr. Bodo Grimbacher from the Center for Chronic Immunodeficiency (CCI) at the Medical Center - University of Freiburg was able to help the young woman in the long term.

When Anna-Lena was ill, it was always with very strange illnesses such as pus lichen or lymph node inflammation. With chickenpox, she had to be put into an induced coma for almost a month. When the girl was nine years old, her right lung was removed in two operations lasting several hours. After that, she had to learn everything from scratch: eating, sitting, walking. At the age of 16, a physician diagnosed her with high immunoglobulin E (IgE) levels, indicating an overactive immune system. However, hyper-IgE syndrome was ruled out. It was not until two years later that a molecular genetic diagnosis confirmed that Anna-Lena did in fact suffer from this rare immune disorder. Her body produces too many of certain immune antibodies (IgE) and too few of other antibodies against bacteria, viruses and fungi. But even the correct diagnosis did not save the young woman from health problems. In her mid-20s, despite treatment, she had lung infections for six months with an uncharacteristically high fever and an extremely low pulse rate. Physicians blamed it on her psyche. She felt abandoned. She had to pause her studies in pharmaceutical chemistry.

Finally, she found out about the Center for Chronic Immunodeficiency (CCI) at the Medical Center - University of Freiburg. "There are only around 80 patients with hyper-IgE syndrome in Germany, and we treat around half of them at our institute," says Freiburg immunologist Bodo Grimbacher. Under his care, Anna-Lena has been receiving a new drug therapy for three years, a combination of antibiotics and immune antibodies. Inhalation, respiratory therapy as well as strength and endurance sports support the treatment. The therapy has stabilized her state of health permanently for the first time and she finally feels that she is in good hands with her illness. She can call her physicians on her cell phone at any time and ask for advice. Anna-Lena is hopeful about the future. She has now been able to continue her studies. She would like to complete her Master's degree in 2020.

* Name changed

You can find two more exciting patient examples of rare diseases here:

Stopping kidney destruction

A few days ago, little Mara* celebrated her 3rd birthday with a chocolate birthday cake, parents, grandparents and three friends, whom she was allowed to invite. Today, no one would suspect that Mara has a rare, very serious kidney disease, from which many children died just a few years ago. More...

Severe hemophilia under control

Ben* is now 13 years old and can lead an almost normal life. But when Ben was six months old, the world initially fell apart for his parents. Ben had cried out at night and his parents had noticed a very swollen elbow. When they went to the Center for Pediatrics at the Medical Center - University of Freiburg, the physicians in the coagulation outpatient clinic noticed many hematomas of different ages. More...

Contact:
Johannes Faber
Press and Public Relations Officer
Corporate Communications
Uniklinik Freiburg
Phone: 0761 270-84610
johannes.faber@uniklinik-freiburg.de