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By taking their first steps, they receive a diagnosis that accompanies them for the rest of their lives. Even a slight trauma or a simple cut is a threat. How it’s possible? The blood of patients with hemophilia does not clot properly. This means that patients may experience spontaneous and excessive external and internal bleeding. One in 10 people worldwide has hemophilia. In Poland, over 2,5 people suffer from hemophilia. Painful haemorrhages to joints and muscles, bruises, withdrawal from social and work life – this does not have to be the scenario of living with this disease. New treatment options mean that the daily life of patients may be different. Raising public awareness of hemophilia and drawing attention to the challenges faced by patients is the main goal of the organizers of the One Step campaign. Great opportunities.
The domino effect, or what hemophilia is
When a blood vessel wall is damaged and bleeding begins, a healthy human body reacts immediately by producing platelets that, in a way, “stick” in the damage, stopping bleeding. The entire process is completed by their sealing with fibrin, which is created thanks to the clotting factors circulating in the blood. Acting like a domino, they activate each other, in effect creating a kind of “sealing net” and completely stopping the hemorrhage. The situation is different in patients with hemophilia. The clotting factor is to blame – its deficiency or lack, which in practice means that the blood is not clotting properly. This can lead to spontaneous and excessive bleeding. Hemophilia is a hereditary disease that is passed down from generation to generation. Mainly males are affected, and females may be carriers of the disease and pass on the disease-causing gene to their offspring. Sometimes people with no family history have hemophilia.
Types of hemophilia
There are two types of hemophilia: congenital and acquired. The most common is congenital hemophilia, which is sex-linked – the gene for hemophilia is located on the X chromosome. Women have two such chromosomes and when the gene responsible for the production of the blood coagulation factor is damaged, the correct gene on the second chromosome compensates for the defect. Women are most often asymptomatic carriers of the abnormal gene. Mainly men suffer from hemophilia. About 30% are dealing with the so-called a de novo mutation, i.e. a mutation that appears for the first time in the family.
There is also acquired haemophilia. It is an autoimmune disease that develops when a clotting factor inhibitor develops in a person without a bleeding disorder. On average, every ten thousand inhabitant of the Earth is affected by one of the forms of hemophilia. Haemophilia A, i.e. factor VIII deficiency, accounts for almost 90% of all cases, while haemophilia B, i.e. factor IX deficiency – about 8%. In Poland, haemophilia A and B occur with the frequency of about 1 in 10 inhabitants, which means that less than one in 000 people is born sick.
Living with hemophilia
Painful haemorrhages to joints and muscles, bruises, withdrawal from social and professional life – this was the everyday life of people with hemophilia until recently. Patients who previously did not have access to prophylactic treatment, today have difficulty walking, move around on crutches or in a wheelchair (due to internal bleeding into the joints) and need rehabilitation. An important change was the introduction of prophylactic treatment aimed at maintaining the level of the clotting factor in the blood to protect against bleeding. Drugs are usually administered intravenously 2-3 times a week. Children with hemophilia who receive preventive treatment, go to school, go to college, and lead lives similar to those of their healthy peers. New treatment options are concentrates of longer-acting clotting factors and subcutaneous drugs, which greatly facilitate patients’ prophylaxis.
– I was always accompanied by a refrigerator of drugs. Administering the agent is a process that takes about an hour and a half and is very tedious. The veins did not always take the amount of the substance in 4 or even 5 syringes, so I often stabbed 3-4 times. Imagine the change I feel today when I take the drug under the skin once a week. More convenient, easier to administer, and throughout the week I feel 100% clotting, no haemorrhages. I’m just joking that I have to get really tired to feel any problems in the ankle joint. I know that I will not undo the changes that the disease made in my life before I received the appropriate treatment, but the most important thing is that it does not progress anymore – says Jakub Kania, who suffers from hemophilia.
One step is enough
Due to new treatment options, the everyday life of patients with hemophilia may look different than a dozen or so years ago. – What do I associate an important step with? With a child’s first step, with a man setting foot on the moon, and for my haemophilia patients, a change in their daily lives. Today, patients have a chance to lead a normal, active life. Fulfill yourself professionally and privately. Clotting factor concentrates have revolutionized the treatment of haemophilia, and new therapies, such as non-substitutable treatments, can be called a real breakthrough. The therapy administered subcutaneously, on the one hand, is more effective, on the other hand, it directly improves the quality of life of patients – emphasizes prof. dr hab. n. med. Jerzy Windyga, head of the Department of Hemostasis Disorders and Internal Diseases and the Department of Hemostasis and Metabolic Diseases, Institute of Hematology and Transfusion Medicine in Warsaw.
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Educational campaign One step. The great opportunity is an initiative to improve care for people with hemophilia. The campaign organizers believe that by educating the public about the disease, its complications and treatment, they will improve the quality of life of people with hemophilia. Through an educational spot, the initiators of the campaign encourage patients to exchange experiences in the fight against the disease, redefine their dreams, ambitions and lifestyle. An educational platform was also created as part of the campaign www.krokdlahemofilii.plwhich includes educational materials aimed at patients and their families, doctors and paramedics.