For more than 2 years, seven year old Kacper struggled with aplastic anaemia – severe bone marrow dysfunction. The only chance to save him was by a transplantation but unfortunately, the donor retracted at the last moment. However, rescue came from his younger sister. Her umbilical cord blood had been collected and then transplanted to Kacper. This procedure was the 9th family umbilical cord blood stem cells transplantation in Poland.
Bone marrow aplasia is a disease caused by a disorder of blood stem cells, where the rate of division and differentiation is decreased. This results in bone marrow suppression and consequently, in pancytopenia. Pancytopenia is a decrease in the number of all types of blood cells (red blood cells, white blood cells and platelets) and results in bone marrow atrophy. This is a relatively rare disease and can occur in people of all age groups. Within every population size, comparable to Poland’s (ca. 38.5 million), several dozen cases of this disease are reported every year.
Kacper's case history started in November 2011, when he was 5 years old. He started to wake up at night with strong knee pain. Initially, there were no clues that this can be a symptom of the disease. However, when these incidents started to occur more often, the boy's parents decided to consult their GP. The blood count test results surprised not only Kacper's parents but also his doctors. It turned out that Kacper was suffering from platelet deficiency (thrombocytopenia). The doctors suspected the worst - leukaemia. 'Our whole life fell to pieces at once like a house of cards,' recalls Kacper's dad.
Kacper was admitted to hospital in Częstochowa and was transferred later that very same day to Katowice, where they performed a biopsy. The results of the first examination were promising, doctors excluded cancer and leukaemia. Kacper's parents were relieved, but unfortunately their joy didn't last long. Unexpectedly, the results of each subsequent test dramatically worsened. The doctors decided to perform a bone biopsy and it turned out that his bone marrow was empty. After a long period of uncertainty, the doctors made the final diagnosis. “Kacper suffered from severe aplastic anaemia and needed numerous blood and platelet transfusions. He also had a low level of granulocytes making him more at risk to bacteria and fungi infections.” stated Prof. Krzysztof Kałwak from the Clinic of Paediatric Oncology, Haematology and Bone Marrow Transplantation in Wrocław.
Only a bone marrow transplant could save him. The countdown to save his life from the disease had started. Kacper's parents and brother were examined to see if they qualified as bone marrow donors. Sadly, his parents were only a fifty percent genetic match and his younger brother, Mikołaj, had only 7 out of 10 matching antigens. Kacper’s family members were excluded as bone marrow donors as the required compliance for transplantation is at
least 9/10 matching antigens. Unfortunately, Mikołaj's parents hadn’t decided on the collection and storage of umbilical cord blood at delivery, which could have been used to save Kacper’s life. Now they could only wait until a quality donor was found. The months went by, until finally in November 2012, the phone rang.
'We were informed that a donor had been found,' says Kacper's dad. 'They started to prepare my son for the transplantation. They pulled out his bad teeth and inserted a special catheter that allows the collection and infusion of liquids, medicines and blood without the need of inserting additional cannulas,' he adds.
The transplantation was scheduled for 27th November 2012 at the Clinic of Paediatric Oncology, Haematology and Bone Marrow Transplantation in Wrocław. However, ten days before the transplantation was to go ahead, a doctor from the hospital phoned and Kacper's parents heard the news they would never have expected, the donor had retracted at the last moment. They would never learn why. 'We were so happy that all this would soon be over, that everything would be good at last. Instead we were only disappointed, both ourselves and Kacper. He had hoped everything would soon be over, that he wouldn't have to have transfusions and injections any more, that his suffering would end soon. Suddenly, the situation had changed.' describes Kacper's mum. The struggle for Kacper's life had started again. 'We had to fight very hard to remain positive, because it wouldn't have helped anything,' says Kacper's dad.
The prognosis wasn't good – both the number of platelets and haemoglobin levels kept falling. But there was a glimmer of hope. Kacper's parents were expecting the birth of their new baby. 'We learned from the head of the ward at the clinic, that there was a possibility to collect umbilical cord blood and transplant it to Kacper instead of the bone marrow of an unrelated donor,' says Kacper's dad. Umbilical cord blood stem cells are more valuable than stem cells extracted from other sources (e.g. bone marrow) as they are primitive, unspecialised and multipotent. They are extremely valuable due to their ability to self-renew and transform into other cells which the human body is made up of. 'Umbilical cord blood stem cells ensure a significantly better survival rate in children with metabolic diseases than e.g. stem cells from peripheral blood or bone marrow,' says Prof. Kałwak.
In January 2013 Wiktoria was born. Stem cells extracted from her umbilical cord blood were delivered to the laboratory of the Polish Stem Cell Bank (PBKM). The parents were looking forward to learn the results of the specialised tests. Everybody was relieved when it turned out that the blood collected at their daughter's delivery was compliant with Kacper's. Three weeks later the transplantation was performed. Everything went well, the boy was conscious for most of the time. The results of the examination carried out 30 days later, confirmed that the transplant had been accepted and the number of leucocytes was normal. 'We called our daughter Wiktoria (Victory), to honour the fact, that there was a full compliance of stem cells. We thought of it as a gift from God,' recalls Kacper's mum. After the transplantation, Kacper started to recover and could be discharged from hospital. Now he is at home, with his family. In January he went back to school and saw his friends, whom he had missed so much.
'We are glad that Kacper's parents entrusted PBKM with Wiktoria's precious blood. There is nothing more satisfying in our work than helping to save a child's life,' says Dr Tomasz Baran of The Polish Stem Cell Bank. Over 35,000 umbilical cord blood transplantations in children and adults have been carried out in the world. In Poland, so far dozens of transplantations, mainly in children, have been performed. As much as 10 of them used blood collected and stored by the Polish Stem Cell Bank; the rest were used with blood from foreign public banks. In September 2012, the European Parliament adopted a resolution on voluntary and unpaid donation of tissues and cells (among others, from umbilical cord blood). Therefore, emphasising the need to establish both public and family umbilical cord blood banks in every member state.