The care-for-rare foundation supports children with rare diseases by enabling research projects – currently with an exclusive focus on diseases of the blood and immune system.

Case report

Serkan is a 7-year old patient who had to spend half of his life in the hospital. Within the first months of life, he developed severe inflammation of his intestines that could not be controled by standard drug therapies. He underwent a series of operations, lost his large bowel and received a colonostomy. Despite of these therapeutic attempts, he continued to suffer from severe inflammation and fistulations.

In such a dismal scenario, the Care-for-Rare Foundation could help by helping physicians and scientists to shed light on the mysterious origin of a devastating disease. Serkan’s immune cells fail to express “antennae” on their surface. These structures are needed to shut down excessive immune responses to bacteria. Particularly, this control mechanism is needed in the human gut that is colonized by billions of bacteria.

Research on Serkan’s disease did not only increase knowledge about the function of the immune system in the gut but also enabled Serkan’s physicians to use a novel therapeutic strategy that would not have been feasible without knowledge of the underlying genetic defect. Serkan underwent an allogeneic blood stem cell transplantation exchanging his immune system. Today, he is cured and able to live a completely normal life.

This example illustrates how care-for-rare can support physicians and scientists in their responsibility to treat individual patients and to gain novel knowledge that can be applied to many other patients worldwide.

A particular focus of care-for-rare is to help children and their families from emerging and developing countries so that they can get access to modern medical care. In Germany, comprehensive clinical, immunological and genetic diagnostic measures are undertaken. Parents are informed about the most recent breakthroughs in science and medicine. Potential therapeutic measures are offered and discussed. In selected cases therapies may be sponsored in outstanding centers of excellence.

However, in contrast to many other humanitarian institutions, care for rare does not primarily sponsor medical treatment for individual patients. Care-for-rare supports gain of knowledge in the field of rare diseases and thus guarantees sustained help for affected patients, today and in the future.

From discovery to cure – this is the mission of the Care-for-Rare Foundation. Rare diseases must be recognized. The genetic basis of rare diseases must be identified. Novel knowledge is generated that serves as the foundation for the development of novel therapeutic strategies – and cure of patients with rare disorders.