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Rare Disease Day on February 29 / Positive example of early detection in newborns / Art exhibition at Freiburg train station

Around four million children and adults in Germany live with one of around 8,000 rare diseases. Under the motto "Rare are many", attention will once again be drawn to this worldwide on the last day of February this year. A disease is considered rare if it affects fewer than five in 10,000 people. Despite its rarity, there are often good ways to help those affected. Physicians and scientists from more than 20 clinics and institutes at the Medical Center - University of Freiburg Center for Rare Diseases (FZSE) work closely together to ensure the best possible care for people with rare diseases. For example, physicians at the Center for Chronic Immunodeficiency (CCI) at the Medical Center - University of Freiburg have already been able to cure several children with a rare immunodeficiency thanks to a newly introduced nationwide newborn screening program.

"In recent years, diagnostics, care and treatment for people with rare diseases have improved significantly. Thanks to more effective early detection, we are able to offer effective treatment to more and more patients," says Dr. Katalin Komlosi, Medical Director of the Center for Rare Diseases at the Medical Center - University of Freiburg. This progress is also demonstrated by the case of Adam*.

Cure thanks to newborn screening

After birth, Adam* was diagnosed with severe combined immunodeficiency (SCID) as part of newborn screening. "This lack of T immune cells leads to severe infections and often to death in the first year of life if left untreated. The only treatment is a timely stem cell transplant," says Prof. Dr. Stephan Ehl, Medical Director of the CCI. To protect Adam from infection during the search for donors, the entire family had to go into isolation. After four months of uncertainty, the long-awaited stem cell transplant finally took place. Despite the additional challenges of a hernia and a norovirus, Adam* was discharged shortly before his first birthday. Thanks to the early diagnosis, he was protected from a life-threatening infection until the transplant. With the significant involvement of pediatric immunologist and research group leader at the CCI, PD Dr. Carsten Speckmann, SCID newborn screening was introduced throughout Germany in 2019. The rare disease occurs in approximately one in 25,000 newborns.

Art campaign "Rarely alone"

To mark Rare Disease Day, the nationwide art exhibition "Rarely Alone" will be launched on February 29 at Freiburg Central Station and elsewhere. Organized by the Alliance of Chronic Rare Diseases - ACHSE e.V., people with rare diseases will present their photographed or painted self-portraits. Patients from the Medical Center - University of Freiburg are also taking part in the campaign.

Caption: Thanks to newborn screening, Adams* rare disease could be treated in time at the Medical Center - University of Freiburg.
Image source: Private

*Name changed