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February 28, 2018 marks the 10th anniversary of Rare Disease Day / Three positive patient examples

Rare Disease Day has been celebrated on the last day of February every year since 2008. This year it is February 28. It is intended to draw attention to diseases that affect fewer than five in 10,000 people. In Germany, around four million people suffer from one of around 6,000 rare diseases. "We have achieved a lot in the last ten years. Those affected can now find competent help much more quickly. This is mainly due to the establishment of specialized centers and expert networks as well as increased cooperation with general practitioners and specialists," says Prof. Dr. Leena Bruckner-Tuderman, spokesperson for the "Freiburg Center for Rare Diseases" (FZSE) and Medical Director of the Department of Dermatology and Venereology at the Freiburg University Medical Center. There is still a great need for research into many diseases. But there have also been many successes in the fight against rare diseases. "We are able to offer more and more patients effective therapies," says Prof. Bruckner Tuderman. This is shown by three examples of patients with rare diseases.

Rare immune disease explains strokes

At the age of 21, young Mesale* has already survived four strokes. Her fine motor skills no longer work and the right side of her body is partially numb. During rehabilitation, she suffers her fifth stroke and is taken to Freiburg University Hospital. Prof. Dr. Bodo Grimbacher, Scientific Director of the Center for Chronic Immunodeficiency at the Freiburg University Medical Center, is also consulted there. He recognized a connection between increased inflammation levels in the blood and the strokes. "The values had been known since childhood, but no further attention was paid to them," says Prof. Grimbacher. A genetic test confirmed that there was a genetic defect causing the inflammation and the strokes. "We had to bring together the various pieces of information, evaluate them and compare them with possible diagnoses. This was anything but easy, as only around 100 people worldwide are affected by the genetic defect," says Prof. Grimbacher. The correct diagnosis led to the right treatment for Mesale, a mix of infusions, injections and tablets for her immune system and against the inflammation. Despite her illness, the patient says: "I had a happy childhood, others didn't." She now wants to use her experiences to help other people with a similar fate.

Cause of foul body odor discovered

It is 1997 and a little boy and his sister have been suffering from foul, sulphurous body odor since birth. Prof. Dr. Karl Otfried Schwab, then head of the Department of Metabolic, Hormonal and Sugar Disorders at the Department of General Pediatrics and Adolescent Medicine at the University Medical Center Freiburg, examines the two. "Metabolic disorders often manifest themselves through an unusual body odor. Metabolic waste products accumulate in the body and then escape via urine, sweat and breath. This is why those affected should consult a metabolic expert," advises Prof. Schwab. He can rule out all known diseases in the two children. He sent blood, urine and exhaled air samples from the children to experts in the Netherlands, who identified two molecules responsible for the odor. The Freiburg researchers were able to narrow down a gene region in which the responsible gene mutations must be located. However, with the knowledge available at the time, no protein could be discovered whose malfunction could have explained the foul odor. Finally, Dutch researchers identified a gene and a corresponding protein that is responsible in bacteria for breaking down the molecules that cause the foul odor in humans. A similar gene was identified in the human genome in exactly the suspected region. All known patients had a disease-causing genetic alteration in precisely this region. "The Freiburg siblings were therefore the first patients worldwide to be diagnosed with this disease and its cause discovered," says Prof. Schwab. However, projections suggest that up to 80,000 people worldwide could be affected. A change in diet can alleviate the symptoms. "In the long term, however, we hope to develop a drug therapy," says Prof. Schwab.

Curing anaemia through transplantation

Six-year-old Marta* is one of around 350 people in Germany who suffer from Diamond Blackfan anemia. This rare hereditary disease primarily affects the formation of red blood cells, which is usually life-threatening if left untreated. "The disease is usually discovered in early childhood, but we are increasingly seeing adults in whom the disease has not yet been confirmed," says PD Dr. Brigitte Strahm, Senior Consultant at the Department of Haematology and Oncology at the Freiburg University Medical Centre. As part of a European network, the Freiburg working group has succeeded in discovering the underlying genetic changes in Diamond Blackfan anemia, which facilitates the reliable diagnosis of this rare disease. In October 2017, an international symposium was held in Freiburg for the second time, at which 118 experts from 27 countries discussed the latest findings on the development and treatment of Diamond Blackfan anemia. Only a bone marrow transplant can cure Marta's anemia. "In the past, such a transplant was only carried out if a sibling was suitable as a bone marrow donor. Now we have proven that it can also be successful with suitable unrelated donors," explains Dr. Strahm. Marta was successfully transplanted from an unrelated donor at the Freiburg University Medical Center without any serious complications.

* Names changed

Contact: 
Daniela Kirstein 
Coordinator 
Freiburg Center for Rare Diseases (FZSE) 
Freiburg University Medical Center 
fzse@uniklinik-freiburg.de