Life-threatening cysts and great luck
Immunology(08.04.2016) Elena* had her first operation when she was just eight months old. Two inflamed cysts were removed from her neck at a regional clinic. But the causes were unknown for a long time. Just under a year after the first operation, doctors discovered an enlarged liver. A detailed examination revealed seven abscesses in the liver alone, one in the lungs and the diaphragm had already been ruptured. Elena's condition was life-threatening and only a quick operation could save her.
After a long stay in hospital, she was referred to the Center for Chronic Immunodeficiency (CCI) at Freiburg University Hospital. Thanks to the experience and interdisciplinary cooperation of the doctors, a diagnosis was made after a short time and an explanation for the many infections was found. "Elena suffers from Iraq4 deficiency, a hereditary immunodeficiency. In this disease, the immune system is not properly activated after an infection, the immune response is too weak and this can lead to serious, life-threatening infections. "If left untreated, the disease would have soon become very dangerous for Elena," says Professor Dr. Stephan Ehl, Medical Director of the CCI.
Today Elena is doing well again. The six-year-old is a cheerful and smart little girl who loves to dance and draw and cannot understand why she has to wait a few more months to start school. Elena receives long-term antibiotics and antibody therapy to protect her from serious infections. Nevertheless, increased attention is required in the event of feverish illnesses and immediate treatment is necessary.
"Unfortunately, Elena cannot be cured. But with treatment, she can live an almost completely normal childhood life," says Professor Ehl. Now that the underlying disease is known and it is clear how to deal with it, the quality of life of the whole family has improved considerably. The days when Elena had to go outside the house wearing a face mask to protect herself from infection are over and the girl is looking forward to school without a care in the world. One day, she would like to help other people the way she was helped. "When I grow up, I want to be a doctor," says the girl.
* Name changed by the editors
Further information:
Center for Chronic Immunodeficiency