Wir überwinden Grenzen

(29.01.2016) The fact that Max* made it through to the transplant at all is a minor miracle. His life was hanging by a thread and it was unclear whether he would survive the constant diarrhea and thus the internal dehydration of his body. By chance, the family met a doctor who referred them to the Center for Chronic Immunodeficiency (CCI) at Freiburg University Hospital. The doctors led by Professor Dr. Stephan Ehl, Medical Director of the CCI, examined the boy and soon realized what was behind the severe diarrhea: "The disease that little Max has is called IPEX syndrome and is one of the autoimmune diseases that mainly affects infants and newborns," says Professor Ehl. Due to a genetic defect, children with IPEX syndrome lack a protein that the body needs to produce T cells, which are important for the immune system. If these cells are not produced, the immune system attacks the body instead of protecting it. The result is severe inflammation throughout the body, which leads to death if left untreated.

"The only chance for Max was therefore a stem cell transplant, in which the dysfunctional T cells are replaced by foreign but healthy T cells," says Professor Ehl. Here, too, a small miracle happened - a suitable donor was quickly found and Max could be transplanted. The boy is now seven years old, the transplant was four years ago and he is doing well again.

However, the emotional burden of an immunodeficient child has also had a lasting effect on the family. In the early years, Max's older sister suffered greatly from not being able to help her sick brother and having to watch him get worse and worse. She is now training to be a nurse, as she doesn't just want to watch, but wants to actively support sick people. Max's cousin has also started studying biomedicine. The long period of ignorance about the disease has affected her. In future, she would like to help diagnose and treat diseases such as immunodeficiencies more quickly.

Max himself is still not thinking much about his future career. He prefers to enjoy his time with his friends on the soccer pitch. And when he does think about it for a moment, he actually prefers to become a firefighter.

* Name changed by the editors

Further information: 
Center for Chronic Immunodeficiency