15-year-old Dominik loves to ride his bike, goes to the gym and almost always does 'gymnastics'. As someone with a severe form of haemophilia, he would not be able to be so active if it were not for so-called personalised preventive treatment. In the case of haemophilia, this means taking - either intravenously or into a port - the missing clotting factor, which reduces the number of complications in the form of joint or organ strokes.
Haemophilia and related haemorrhagic diathesis are blood clotting disorders, most often with a genetic basis. The number of patients suffering from these conditions is estimated to be around 6 000 in Poland.
They are at risk of prolonged bleeding as a result of trauma, surgery or even a dental procedure. Moreover, these diseases manifest themselves with spontaneous painful subcutaneous haemorrhages, as well as in the joints, muscles and internal organs. The consequences of these haemorrhages are organ damage and long-lasting or completely destroyed joints, with consequent disability.
With personalised prophylactic treatment with clotting factor concentrates - plasma-derived and recombinant - people with haemophilia can avoid many complications of the disease, including disability.
- Without personalised prevention, we cannot imagine life. Dominic already had spontaneous hip strokes as an infant. Without this treatment, he would certainly not be able to function as he does now that sport is an essential part of his life. He loves cycling, he goes to the gym, he does gymnastics and it's not only his passion, but also a way to strengthen his body, because stronger muscles mean less strain on the joints," she told us Dominik's mother, Karolina Tadej.
- Thanks to the fact that the agent is available and that we have it at home all the time, the disease goes on without any major complications or problems, she added.
You could say that Dominik was lucky, as his diagnosis coincided with the introduction of a preventative treatment programme for children with haemophilia in 2008. According to experts, this was a revolutionary change that saved many young people from the changes associated with haemophilic arthropathy, which is the degeneration of the joints resulting from repeated haemorrhages.
In the beginning you have to break through
The disease imposes a certain regime on Dominik's life. The boy has had ports inserted for many years in order to receive clotting factor. The first one served for more than eight years, and the second one was removed last year because Dominik took part in a week-long camp organised by the Polish Haemophilia Society (PSCH), during which a nurse taught young haemophilia patients how to administer the factor intravenously to themselves.
- You work it out and then it's poked and injected. At first you have to break down to give yourself the injection, but after that it goes without any problems, assures Dominik.
His colleagues know he is ill. - I don't hide it because it's a chronic, serious illness, so it's better for the people I'm with to know how to act if something happens to me. They know what I'm ill with and what they need to do in case something happens - call my mum first," he laughs.
Dominik also keeps in touch with several boys with haemophilia whom he met at the camp. - It's known that we have our own topics, but it's not like we only talk about the disease. It's good to keep in touch with other sufferers or parents of sufferers, like my mum, who helps other mums and who was once also helped by another more experienced mum with the disease. We support each other. There is someone to talk to, to advise, to ask for help.
- After hearing the diagnosis, I was helped a lot by the support of other people in the same situation, with slightly older children. At the time I had no idea how to cope and where to start. Now we exchange experiences on an ongoing basis. The Polish Association of Haemophilia Patients, headed by its president, Mr Bogdan Gajewski, has been a great support for parents, children and adults suffering from haemophilia or other bleeding disorders and is still providing help, so to speak, 24 hours a day,' Karolina says.
Dominik practices sport intensively: "I work out at the gym five times a week, and I do a lot of cycling in summer, although if the weather permits, I also do it in winter. Without personalised prevention, all this would be impossible," he stresses.
Mrs Karolina also praises the home delivery of clotting factor preparation for her son. - Before it was possible, we used to travel 75 kilometres to the blood donor station, initially by train and bus, because we didn't have a car. We needed a fridge because the preparations at that time could not be stored above 25 degrees. Home delivery is a great convenience," he emphasises.
The leap between childhood and adulthood
Dominik will only be of age in three years, but both he and his parents are already starting to think about the imminent change from a paediatric centre to one for adults. - When choosing a place to study and planning my adult life, I will definitely take into account whether there is a good centre in the city," he assures the boy.
- Therapy cannot be terminated or interrupted, which unfortunately happens to teenagers experiencing rebellion against the disease. This, however, risks a relapse and wastes what has been achieved over the previous several years of optimal treatment. If one nevertheless interrupts treatment, joint-damaging microinfarctions can then occur. The role of those around you is to patiently explain the need to maintain discipline in taking the agent, emphasises Specialist in paediatrics, oncology and paediatric haematology from the University Clinical Centre of the Medical University of Warsaw, Professor Paweł Łaguna.
He admits that the transfer of a haemophilia patient to an adult centre raises some concerns about maintaining continuity of treatment. - We have 15 paediatric centres, for the adult ones there are some white spaces, there is not always somewhere to transfer these patients to. We must work to strengthen the centres. The current efforts of patients' organisations to ensure that the centres treating them are accredited to confirm the quality of care are also part of this," adds Professor Laguna.
There is no doubt in his mind that the children's programme that has been implemented has allowed tremendous progress to be made and that access to modern treatment has been a boon to patients.
No more need to go to the hospital so often
28-year-old Paweł Budek still remembers the days when patients did not have medicines at home. - With every bleed, you had to go to the hospital, and that's where the medication was ordered. So it was several hours before they were administered, and I was feeling worse and worse, and the disease was wreaking havoc on my joints," he recalls.
Like most patients, he has no recollection of the moment of diagnosis - the disease became apparent in him as an infant in the form of a haematoma on his chest. At the hospital in Warsaw, it turned out that he was the first person in his family with haemophilia.
- Even though I was exempt from PE, I was drawn to run with the boys, to play football, even though my parents warned against it. They wanted to protect me at all costs, but they remembered that I was first and foremost a child. Now that we have personalised prevention, you can afford to do more, but of course with your head. I go to the pool, the gym, the bike. In our case, good fitness and fitness is very important. Prevention is a wonderful thing with very positive results. It simply allows you to function normally," says Paweł.
He also does not hide his illness: - People around me approach it with understanding. My family supports me, and colleagues at work asked me with concern about my health when I had to walk on crutches for a week. There have never been any problems at school either. Although Paul tries to be of good cheer, he is waiting with some anxiety until a decision is made on the continuation of the National Programme for the Treatment of Haemophilia and Related Haemorrhagic Diathesis Patients. - It is very important that it continues and all its provisions are implemented, he believes. He hopes that the majority of patients will have access to a home supply of the agent, as a significant number of older colleagues find it difficult to transport the drugs due to their condition.
Source: cowzdrowiu.pl