Six months of treatment with an unreimbursed medicine
Ends at: 03 April 2022
Paulina was born at 40 weeks gestation, she was assessed at 10 points on the Apgar scale. The tests done in the hospital did not show anything worrying. A few days after the birth we noticed very light spots visible only in sunlight. Over time, the spots became darker. We consulted the paediatrician. Paulinka was referred to the paediatric neurology department. Based on the history and numerous cafe au lait spots a diagnosis of neurofibromatosis type 1 was made.
No other characteristic symptoms of the disease were found. We lived in hope that the diagnosis would not be confirmed in the future. A week after her first birthday Paulina started having high fevers. The tests were clear - urinary tract infection. Unfortunately, the antibiotic didn't work and the change of drug didn't improve her condition. Paulina was admitted to hospital to the paediatric ward. The X-ray of the chest showed a change in the area of the right lung. A cyst was suspected. To be sure, additional tests were performed, including tumour markers.
Paula was referred to the paediatric surgery department, where a biopsy of the tumor was carried out. After a month we received the result: a tumor of a neurofibroma nature. Thus, the initial diagnosis was confirmed. Every 3 months Paulina was in hospital where she had examinations. Unfortunately, each time the MRI showed a slight progression of the mediastinal tumor and the tumor of the right arm with the shoulder plexus. We consulted many specialists including a neurosurgeon and a surgical oncologist. Each of them recommended a wait-and-see approach. We also visited a geneticist. He suggested carrying out a genetic test. We agreed without hesitation. We got the results after a few months. Then, we were 100% sure that Paula's disease was neurofibromatosis type 1.
Shortly after Paulina's 4th birthday, an MRI scan showed that the mediastinal tumor had grown and was pressing on her spinal cord. An operation was necessary. Unfortunately, the tumor was very big and only the part that was pressing on the spinal cord could be removed. After the operation, Paula recovered very quickly. Unfortunately, a year after the surgery, it turned out that the tumor was slowly growing back.
We do not give up and we fight every day for Paulina's health. The only chance to stop the growth of the tumor is an innovative, unreimbursed medicine. To start the treatment we need to raise funds for at least six months of therapy. Successful treatment may take even several years! A chance for our daughter may even cost several million PLN! This is money that we are not able to raise on our own, so we ask for help to save Paulina.
Karolina and Adam - parents