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Small patient with sudden paralysis

Immunology

(31.05.2016) Almost overnight, eight-year-old Seynep* began to suffer from paralysis and within a few months she was no longer able to walk or sit upright. One month after the onset of the disease, Seynep was in a wheelchair, she could no longer sit on her own, could no longer write and frequently recurring spasticity increasingly led to a loss of control over her limbs. A long journey through doctors' surgeries and clinics began, with ever new diagnoses and therapies bringing short-term improvement, but no cure. Her family became increasingly desperate, Seynep had already been in various hospitals for five months and regular school attendance was out of the question.

It was not until she was referred to the Center for Chronic Immunodeficiency (CCI) at Freiburg University Hospital that the breakthrough came. Thanks to the interdisciplinary cooperation of the doctors, the correct diagnosis of congenital immunodeficiency was made.

Improvement thanks to stem cell transplantation

"Seynep suffers from hemophagocytic lymphohistiocytosis, or HLH for short. This is a rare, life-threatening disease of the immune system that can lead to severe inflammation and even complete paralysis if left untreated," says Professor Dr. Stephan Ehl, Medical Director of the Center for Chronic Immunodeficiency at the Freiburg University Medical Center. It quickly became clear that medication alone would not do the trick; only a transplant could enable Seynep to return to a normal life. Only then will she be able to walk and write properly again, go back to school and be able to fool around with her friends without a care in the world.

But a stem cell transplant is not without risk. The immune system is switched off using chemotherapy so that the body is able to accept the stem cells from a suitable donor. The greatest risk is that the diseased body rejects the foreign cells in a defensive reaction and the disease continues to progress inexorably. The search for a suitable donor can also take years. A blood analysis showed that family members were not suitable donors. Seynep, however, was very lucky: a donor was found after just three months. The way was clear for the transplant.

The time after the transplant is not easy. Constant nausea, frequent vomiting and months of hospitalization are symptoms that often characterize the initial period.

Seynep and her family are all the happier today. Because the stem cells were accepted by the body. The girl is living at home again and can do everything that belongs to a happy child's life. The happiness of being able to walk, write and paint again is indescribable for Seynep. She can laugh again and dream carefree dreams. And of becoming an architect again.

* Name changed by the editors

Further information:

Center for Chronic Immunodeficiency

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