ROMA (ITALPRESS) – Tell a rare disease starting not from diagnosis, but from people. This is the goal of “Beyond the folds of rarity”, the new awareness campaign promoted by MSD, with the patronage of the Italian Association of Families VHL Onlus, dedicated to von Hippel-Lindau syndrome (VHL). Through the voices and experiences of patients, the campaign proposes a narrative that interweaves the clinical aspects of the disease with daily life, emotions, relationships and changes that accompany cohabitation with a rare pathology. In the middle of the campaign there is the volume “Beyond the folds of rarity – real stories of people with von Hippel-Lindau syndrome (VHL)”, which collects patient testimony, transformed into short compositions inspired by the Japanese poetic tradition of haiku. The stories – also available in the audio version – are accompanied by original illustrations inspired by the art of origami, capable of translating into images the individual paths of the protagonists. The book combines personal narrative with scientific insights dedicated to syndrome, offering a dissemination tool that combines emotion and information. Five words – discovery, change, courage, sharing and hope – accompany the reader along a path that restores the complexity of the disease through authentic experiences. “Receiving a diagnosis of VHL means seeing to change suddenly the way to imagine its future – says Francesco Lombardi, President of the Italian Association of Families VHL Onlus -. It means to live with continuous questions, fears and controls, often sharing this path with other members of your family, and trying every day not to let the disease occupy all the space of your life. The stories gathered in this campaign tell the fatigue and fragility, but also the courage to continue to cultivate affections, projects and desires. Sharing it means telling people who live with the VHL who is not alone and at the same time helping everyone to look beyond the disease, to recognize the person, his voice and his history. This is also the commitment of our Association: to be alongside people with VHL and their families, so that feeling heard, understood and accompanied can really make a difference.” VHL is a rare and multisystem genetic disease that prepares for the development of tumors, both benign and malignant, in different organs of the body. Over the course of life, about 70% of patients develop clear cell renal carcinomas, 60-80% SNC emangioblastomas and about 5-10% pancreatic neuroendocrine tumors. The prevalence is 1/53,000 cases and the annual incidence at the birth of 1/36,000. It affects men and women in an equivalent way and usually begins between the second and fourth decade of life, with an average age at the diagnosis of 26 years, although the first signs may sometimes appear in childhood. The management of the disease requires continuous monitoring throughout life and a multidisciplinary approach, with periodic controls aimed at identifying injury early and intervention before the occurrence of complications. In recent years, research has led to the development of new therapies, which flank traditional approaches based on clinical surveillance and surgical or ablative interventions, with the possibility to help improve the quality of life of patients. “The syndrome of von Hippel-Lindau is a complex pathology that affects many organs and requires a highly specialized and continuous care path. Early diagnosis, regular monitoring and availability of new therapeutic options are changing the approach to the disease, but it is equally important to increase VHL knowledge even outside specialist areas. Initiatives like this help to understand what it meansthose who live with a rare disease and the importance of a multidisciplinary takeover”, says Alberto Feletti, Associate Professor of Neurosurg, Department of Neuroscience, Biomedicine and Movement – Università degli Studi di Verona – AOUI di Verona. The campaign also develops through a dedicated area on the Life Information portal, where you can consult scientific materials, listen to audiostorie, download the volume and deepen the knowledge of VHL. The contents will also be spread through the social channels of MSD and the Italian Association of Families VHL.“With this new awareness campaign on the VHL – ‘Beyond the folds of rarity’ – we want to give voice and visibility to stories, to Vite, which too often remain silent. We want to shed light on a still little known disease. And once again, we have chosen a new and unusual way to tell the disease, going beyond the clinical language and putting in the center the patients who live on their skin, with their experiences, their fragility, their strength and their desire for future – notes Nicoletta Luppi, President and CEO Delegate of MSD Italia -. The book that accompanies the campaign stems from their voices and returns not only the complexity of an ultra-rare, hereditary and multi-system disease, but also the courage and hope of those who face it every day. Today this hope finds new concreteness also thanks to the progress of research that open important perspectives for people who, for a long time, have been able to count only on clinical surveillance and on local or surgical interventions often repeated”.“In MSD – concludes Luppi – we believe that all patients are important, even when they live with rare diseases that risk remaining less visible, because behind every rare pathology there is never a number, but a future, a family. This is why we renew our commitment to contribute, through science, information and collaboration with associations, scientific community and institutions, to make more and more light on rare diseases.”.
– MSD press office photos –(ITALPRESS).
