Nijmegen syndrome and severe thrombocytopenia❗Zosia's treatment continues❗

Vigilance from the moment of birth

During pregnancy, the doctor noticed a disproportion between the head and torso. Prenatal tests did not provide any answers. Zosia was born in the 36th week of pregnancy. She received 10 points on the Apgar scale. She was tiny, calm, and alert.

The diagnosis came after she was born. Nijmegen syndrome. A rare genetic disorder with serious consequences for the immune and hematopoietic systems. At first, it didn't change much in her daily life. Apart from reduced immunity, she had no other particular ailments. Zosia was sick more often than other children, but for a long time it seemed that this was just part of childhood. Her parents seized every day of normality, not yet knowing that darkness was gathering beneath the surface.

The body stopped taking care of itself

At the beginning of April 2025, bruises and small dots appeared on Zosia's body. They were too numerous and too persistent to be ignored.
On April 9, they went to the pediatric ward in Oława. The test results were shocking. With a normal platelet count of around 150,000, Zosia had only 2,000.

The diagnosis took away my peace of mind.

A few days later, Zosia was taken to Cape of Good Hope. A bone marrow biopsy and a series of subsequent tests confirmed severe thrombocytopenia. From that moment on , the disease began to manifest itself in her body in more and more ways. Her skin was marked with bruises. Blood that couldn't stay where it should. Fear was inherent in every touch, every lift, every test.

Treatment, relief, and recurring anxiety

Treatment with immunoglobulins and steroids was started. Each therapy brought improvement, but only for a short time. The results rose, only to fall sharply again after a short time. Sometimes almost to zero. Each increase in platelets was like a deep breath of relief. Short-lived. Hope appeared and disappeared as quickly as the good results. In between, there was a constant readiness to react. Nights filled with vigilance. Hours of waiting between one test and the next.

Hope in biological medicine

Today, Zosia is undergoing another course of treatment. She has just had her first infusion of a biological drug designed to destroy the antibodies attacking her own blood platelets. This therapy offers real hope, but also involves enormous uncertainty.

It is a time of suspension. Of waiting. Of checking whether the body will finally stop destroying itself. The battle is now being fought in silence, under the watchful eye of doctors, with fear that does not disappear even for a moment.

A family in a state of constant vigilance

Home is no longer a place of rest. It has become an extension of the hospital. Everything is subordinated to Zosia's safety. Every day is a balancing act between hope and fear. Between simply being with your child and the awareness that another drop in platelet count could trigger another emergency.

Why this assistance is needed

Zosia's treatment is a long and unpredictable process. It requires successive therapies, constant monitoring, hospitalizations, commutes, and medications that are not always reimbursed. Continuity is the most important thing. No breaks. No waiting. No decisions postponed because of money.