Dedicated to the ‘extraordinary normality’ that people with haemophilia experience today, the fourth edition of the ‘Let’s redesign haemophilia’ campaign, promoted by Roche Italia with the patronage of the Federation of Haemophilic Associations (FedEmo) and the Paracelso Onlus Foundation, was inaugurated with a webinar attended by some of the leading Italian exponents in the field of haemophilia, associations of patients, patients and influencer.
With this initiative, Roche Italia wants to continue to give space to a positive story of haemophilia through the format ‘The extraordinary voice of normality‘, consisting of a series of vodcasts that tell the daily life, the difficulties and the goals achieved by patients and their families. Divided into four thematic episodes, the path created for this edition of the campaign touches as many aspects of the life of people affected by this rare congenital disease: relationships and sexuality, travel, family, sport and free time. Leading the vodcasts are the influencers Raissa and Momo (relationships and sexuality), Federica Di Nardo (travel), Diego Di Franco – The wonderful world of dads (family) and Fius Gamer (sports and free time).
“Hemophilia is a hereditary haemorrhagic disease transmitted from parents to children through a mutation linked to the X chromosome, so that male children can be affected while their daughters are carriers, leading to feelings of guilt in the parents – recalls Patrizia Di Gregorio, director of the Department of Asl 2 Abruzzo services, director of Uoc company transfusion medicine – Center for congenital and acquired haemorrhagic diseases (Aice) n.52 and Center for the study and treatment of thrombophilias (Fcsa) n.301 – Policlinico ‘SS Annunziata’ Chieti, which has participated as an expert in the episode on the theme ‘relationships and sexuality’ – Living with haemophilia can also have a negative impact on the patient’s social and emotional relationships. Scientific research has made great strides, allowing today to those who live with haemophilia to be able to manage the pathology in a more serene way and also improving the social and couple relational sphere “. “Hemophilia is a congenital hemorrhagic pathology characterized by the absence of the eighth factor, the one responsible for blood coagulation. It manifests itself with spontaneous bleeding that target the joints. Some time ago, prophylaxis did not exist and bleeding, treated only at the moment and never prevented, could cause bone malformations and serious relationship problems. Fortunately, today the paradigm has changed: thanks to the innovation in the therapeutic field and the care of patients by professionals able to guide and support them, they lead an almost normal life “.
Di Gregorio underlined the important role played by specialized centers: “The haemophilia centers are essential because they not only treat the patient suffering from haemophilia, but also take care of families, partners and people involved in the disease, helping them to live with Previously, children with hemophilia were covered with knee pads and helmets to avoid bleeding, while now they are free to run and jump. In the same way, more adult patients are able to experience relationships and sexuality with serenity and spontaneity. Once again, a good relationship between doctor and patient helps a lot to overcome the initial difficulties that may be encountered in this area “.
There are several types of haemophilia. The most common is type A, which affects around 320,000 people worldwide and which is characterized by low levels of the protein known as factor VIII, which is essential in blood clotting. On the other hand, type B haemophilia is caused by a lack of coagulation factor IX and has an incidence of 1 case in 30 thousand people of the male gender.
“It is a hereditary pathology characterized by congenital deficiency of factor VIII and a tendency to bleeding affecting, for example, the musculoskeletal system and internal organs such as the central nervous system – highlights Berardino Pollio, medical director of the regional reference center for hemorrhagic and thrombotic diseases in pediatric age, Aou City of Health and Science of Turin – Regina Margherita hospital, which participated in the episode relating to the family – Therefore haemophilia is often diagnosed at a very young age. The moment of diagnosis is always particularly complex for parents as it distorts their family life and expectations. Today fortunately, thanks to the great progress made by scientific research, it is possible for patients and families to have a new daily life by being able to organize their days in a more flexible and necessarily revolves around frequent treatments “. “The role of the family is fundamental in the management of the patient with haemophilia. From the moment of diagnosis to adherence to home therapy, family members must transmit optimism and serenity to the patient. In this scenario, help from professionals at haemophilia centers is also very important. The doctor is in fact the one who must communicate to those suffering from haemophilia and their affections that the disease is now manageable with excellent results and that it is possible to lead an almost normal existence regardless of the ‘frightening’ diagnosis of a rare disease “.
Pollio continued his speech by explaining that especially for pediatric patients “the cornerstone of the management of the disease is the positive attitude that parents must have towards the situation”. Because “if the family makes the little patient feel he is in fear – warns the expert – that child will be an adult frightened by his condition and will not feel free to lead a carefree and serene life”.
Thanks to the new therapeutic solutions available today, patients can manage their treatments with ever greater flexibility and this gives them the opportunity to build new personal spaces, unimaginable just a few years ago. This is the case of travel, as explained by Chiara Biasoli, medical director of Uoc transfusion medicine hospital ‘Maurizio Bufalini’ of Cesena Ausl della Romagna, member of the medical-scientific committee of the Federation of haemophilic associations (FedEmo) and head of the Mec Center – Congenital hemorrhagic diseases of Romagna, involved as an expert in the episode dedicated to travel – Of course, precautions are always needed for patients with haemophilia when they embark on a journey, such as dealing with their own reference center. If until a few years ago those living with haemophilia were forced not to be able to program anything that did not take into account unexpected bleeding complications and to have to provide daily treatments, today, fortunately, scientific research allows us a different management, always with attention, but at least one a little less rigid “.
If travel is no longer unthinkable for patients with haemophilia, the same also applies to sports and other leisure activities, as illustrated by Matteo Di Minno, associate professor of internal medicine at the Department of Medical Sciences. translational studies of the Federico II University of Naples: “A broader and more flexible management of free time, as well as the possibility of experiencing sport, are the tangible example of the achievements of normality made by patients with haemophilia in recent years, and it is exciting being able to tell them, while continuing to keep in mind the need to avoid extreme sports or high-risk traumatic sports “.
The campaign also saw the involvement of FedEmo and Paracelso Onlus for this edition. “The ‘Let’s redesign haemophilia’ campaign pursues objectives that are in full harmony with our activity as an association of patients – says Cristina Cassone, FedEmo president – As FedEmo, we have always been committed to representing the voice and requests of patients and to promoting and coordinate interventions aimed at improving the quality of life of people living with haemophilia and their families “. Adds Andrea Buzzi, president of the Paracelso Foundation: “The scientific and pharmacological advances of the last decades have led to a significant improvement in the quality of life of people with haemophilia and we hope that patients can continue to have a daily life that is less and less conditioned by the disease” .
“In recent years enormous progress has been made in the treatment of haemophilia – declares Anna Maria Porrini, medical director of Roche Italy – Progress that brings out the voice of patients who can finally tell their own story of conquered normality. Stories that speak of family, relationships, travel and sport, that is a piece of the life of all of us. Over the years, thanks to our commitment to research and development and to constant collaboration with patients, caregivers, clinicians and researchers, we have been able to build a solid and profitable partnership with the haemophilic community, working to create together a shared path and bring innovative solutions that arise from listening to people’s needs and their constant involvement. The fourth edition of the campaign that takes the name of ‘La Extraordinary Voice of Normality ‘is a perfect example of this, as the campaign aims to give patients and clinicians a voice so that they can tell ino how, thanks also to the therapeutic innovation of recent years, their life is now ‘extraordinarily normal’ “.