In Sofia, Discussions Focused on Family Support and Other Rare Bleeding Disorders

The scientific programme provided valuable information about the complications associated with these disorders, particularly in women who face higher risks related to menstruation and blood loss.

Among the main topics were various forms of family support, as well as current developments in treatment. Although specific treatment for Glanzmann thrombasthenia is still lacking, new research, including gene therapy, offers hope for the future. Despite significant genetic variability involving 80 different genes responsible for platelet dysfunction, the field of research and treatment is developing dynamically.

Overall, the conference proved to be an important event for sharing knowledge and experience among experts, contributing to better understanding and care for people with these rare diseases.

One symposium focused on prophylactic treatment in children with haemophilia. Research confirms that children who begin prophylaxis immediately after diagnosis have 2-3 times fewer damaged joints than their peers who start treatment after the age of two. This time frame is crucial, especially during the period when children are learning to walk and their joints are at greater risk of injury. It is important to emphasise the importance of joint care, where micro-bleeding often occurs. Although these small bleeds may seem trivial at first glance, their cumulative effects can lead to serious long-term problems. Early prophylactic treatment helps protect joints and minimise the risk of damage, underscoring the need for prompt diagnosis and initiation of treatment in children as early as possible.

Women with bleeding disorders face many challenges at various stages of life -- from bruising and mucosal bleeding to problems with menstruation, pregnancy, and menopause. These difficulties are often accompanied by various social stigmas (e.g. curious looks at bruises), which can affect self-confidence and clothing choices. Menstrual problems are particularly sensitive, as many women experience heavy bleeding. This can be very painful and can interfere with their daily lives. Pregnancy presents additional risks, with complications such as bleeding during ovulation or embryo testing. Some women with Glanzmann thrombasthenia may even be put into artificial menopause to prevent these problems. Overall, it is crucial that women with these disorders have access to information, support, and appropriate treatment, which can help improve their quality of life and reduce psychosocial burden.

Parents, especially mothers, often go through periods of guilt and anxiety about their child's health, which can lead to neglecting their own health. Siblings may feel overlooked, which can disrupt the family dynamic. The involvement of fathers is therefore essential. It contributes to creating stronger and more balanced support for the entire family. Male involvement can also alleviate the feelings of loneliness and isolation that mothers often experience. Mutual support between parents strengthens family bonds and improves the mental health of all family members. It is also important for fathers to take an active interest in the health needs of their children and to participate in their treatment and bleeding prevention, thereby improving the overall quality of life for the entire family.

The debate among young people was about the use of artificial intelligence in treatment selection. During the debate, arguments FOR and AGAINST emerged. In the end, everyone, including doctors, agreed that the matter is not so simple. Artificial intelligence is not yet capable of such decisions, but some admit to using AI tools. However, it is important to realise that not all data obtained from such sources is relevant.

The discussion about sexuality in people with bleeding disorders was based on research conducted in the Netherlands and Croatia. A Dutch survey of 720 respondents showed that 10% of them feel restricted in their sexual relationships, mainly due to joint problems that limit them. While young men generally do not experience problems until 18, for girls these difficulties begin with the first menstruation, usually between ages 13 and 18. After reaching adulthood, however, the situation changes, with predominantly men beginning to experience problems. Marko Marinic presented the results of research among the Croatian population, which showed that different age groups face different challenges.

At the end of the scientific programme, a panel discussion took place focusing on the experiences of patients, parents, and doctors. Parents face the greatest pressure (stress) because they strive to make their children's lives as normal as possible. Children and adolescents, however, often do not perceive the situation as dramatically, while doctors (haematologists) focus on the consequences of non-adherence to treatment, potential problems, and available treatment options. One of the main themes that ran through all the lectures was the importance of and focus on these issues. Only through mutual awareness and knowledge can the various challenges associated with bleeding disorders be effectively addressed.

Some participants of the recent Mont Blanc expedition were also in Sofia (see link to the article), including "our" Daniel Simek. During one symposium, a trailer for the upcoming documentary about the entire expedition was screened for those present. All participants received great recognition and thunderous applause from the audience.

The World Federation of Hemophilia has developed a web platform that can help with treatment decisions. This shared tool was designed to help people with haemophilia A or B and their treating physicians (haematologists) gather relevant information. The aim is to support meaningful and effective conversations with the healthcare team. After using this tool, users can better evaluate their situation and decide whether to stay with their current treatment, change it, switch to a new therapy, or continue to educate themselves about treatment developments. The site is regularly updated to reflect new information and treatment approaches, ensuring that users have access to current data and options. Its flexibility allows users to return at any time, supporting active involvement in the decision-making process regarding their treatment. The website https://sdm.wfh.org/ is now translated into six languages (English, German, Spanish, French, Japanese, and Dutch). Our goal is to get the site translated into Czech as well. We personally discussed this matter with WFH representatives in Sofia, and we were promised that it would happen. It could also serve colleagues from Slovakia, which WFH representatives appreciated with interest, noting that it would cover two countries.

The conference also included the General Assembly of the European Haemophilia Consortium (EHC), at which new members of the executive board and a treasurer were elected. The financial role is being taken over from Jo Eerens, a long-standing EHC official and loyal friend of the Czech Hemophilia Society, by Laura Quintas Lorenzo from Spain. The new members of the executive board for the next term are: Panagiotis Christoforou (Greece), Tatjana Markovic (Serbia), William McKeown (United Kingdom), Augustas Nedzinskas (Lithuania), Jamie O'Hara (United Kingdom), and Amy Owen-Wyard (United Kingdom). The next EHC conference will take place in Vienna; Istanbul will host the EHC for the first time in 30 years in 2026.

The conclusion of the General Assembly was very emotional, when a representative from Latvia tried in vain to add an item to the agenda concerning the EHC leadership's visit to Russia and their meeting with the Russian Minister of Health. Despite the fact that 38 out of 47 national member organisations (NMOs) were present in the hall, the chair and EHC president did not allow a vote on whether to address this matter further and prevent the EHC from carrying out the planned visit. Immediately after the EHC annual conference in Sofia, the EHC leadership travelled to Istanbul, where they met with the Turkish NMO, and then immediately departed for the Russian capital. Representatives of the World Federation of Hemophilia (WFH) were also supposed to join the EHC delegation, but they withdrew their participation immediately after the General Assembly. The reason for the EHC trip was the alleged support of people with bleeding disorders in Russia. At the General Assembly, the EHC leadership promised not to meet with or be photographed with Russian officials so they could not use it for propaganda purposes. As can be seen from the press release of the Russian Ministry of Health dated 10 October 2024, the EHC participated in an official visit to the Russian Federation, met with the Minister of Health and officials, and the EHC even praised Russia for the fantastic work it is doing and stated that care for haemophilia patients in Russia is better than in many European countries. This is particularly concerning at a time when Ukrainian haemophilia patients face a tragic humanitarian crisis, lacking access to necessary medications and medical care. Concern over this situation has already been expressed in personal letters by three member countries, and we expect it to continue to escalate. After the recent approval of new EHC statutes, on which the EHC steering committee worked for over a year in close cooperation with all NMOs, one of the goals of which was to simplify and formalise the process of submitting proposals to the General Assembly, this item unfortunately could not be added to the agenda, which is striking. The Czech Hemophilia Society is addressing this situation and will jointly decide on further steps.