Rare diseases, new solutions for patients thanks to participatory science
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The 30 participatory science projects to improve the lives of rare patients are born from a special ‘expertise’: that of those who know very closely the problem of having to live with a pathology that can be disabling and affect the life of the whole family. Because this is the heart of the program “Participated science for the improvement of the quality of life of people with rare diseases”, wanted and conceived by the National Center for Rare Diseases (Cnmr) of the Higher Institute of Health (ISS) and financed by the Ministry of Health. On the eve of World Rare Disease Day, a large and varied group of conditions (more than 8,000) affecting about one person in every 2,000 inhabitants, four of these ideas/solutions – “Mano Moka”, “Stomycraft”, “Like your Home ”, “RadioAidel22” – are presented today during a conference, co-organized by the Cnmr and by Uniamo – the Italian Federation of Rare Diseases.
Start with needs
The project “Participatory science for the improvement of the quality of life of people with diseases rare” aims to bring out and share operational ideas, solutions, technologies, services and strategies to face small and large difficulties and everyday challenges. It is aimed at citizens, schools, associations, researchers and institutions with the idea of contributing all together to improve the lives of people and their families. “The platform on which participatory science projects are shared triggers a virtuous circle between citizens and institutions – he says Silvio Brusaferro, president of the ISS. “The initiative underlines how rare patients are precious for the contribution of knowledge of their special needs without which it is very difficult to promote the quality of life and well-being, essential for the effectiveness of the available therapies”.
The impetus for the new national plan for rare diseases
To underline the importance of this initiative also Sergius the poultry, Director General of Communication and European and International Relations of the Ministry of Health: “The Participatory Science project – he declares – offers not only practical solutions, but goes in the direction of an enlargement of citizens called to contribute all together to improve the lives of the sick rare and their caregivers, is the invitation to get in touch with their community, represents the proximity of the institutions. And it is part of a long-standing commitment by the General Management to improve communication, i.e. the relationship and closeness with rare disease patients which will also be given new impetus by the new National Plan for rare diseases”.
Science for everyone
Some of the ideas have already been implemented, others just thought out, but all have passed the scrutiny of the multidisciplinary scientific committee. “All projects – he declares Marco SilanoActing Director of the Cnmr – are strictly copyright-free, available on an ad hoc site – www.scienzapartecipata.it – for anyone who wants to take advantage of a specific aid because they are a person with the same or similar disability and for anyone, public or private, who wants and can make it a prototype at the service of many”.
Solutions for everyday life
Precisely because the projects arise from the needs of patients and their caregivers, they do not concern the therapeutic area for which specific medical-scientific expertise is needed. “Participatory science projects – he says Taruscio Sunday, former Director of the Cnmr and creator of the project – concerns practical strategies, the result of direct knowledge of the needs of patients. And precisely for this reason, developed by the patients themselves, by their caregivers, by those who are close to them, to facilitate and improve their quality of daily life. On the other hand, in the world of the ‘rare’, which I know well, it has always been like this, because the low frequency of pathologies penalizes not only research in the pharmacological field, but also all other areas of life: from delays in diagnosis to costs of care which are often high; from the social unease that often generates marginalization and loneliness to the scarce information available”.
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A practice lab
“We with rare patients together would fill the San Siro stadium 25 times”. Thus says the slogan of the Uniamo campaign to say in a more engaging way that there are almost 2,000,000 rare patients in Italy, of which 1 out of 5 is under 18 years old. “Being able to improve the lives of people with rare diseases with small daily tricks is fundamental,” he says Annalisa Scopinaro, president of Uniamo, with which the ISS has been collaborating for some time in many awareness, training and information initiatives in the field of rare diseases. “If on the one hand, in fact, our commitment as a Federation is to act at a legislative level to change the laws in a direction favorable to our community, on the other we cannot ignore thinking about what can change the quality of life now and concretely, waiting for the bureaucratic paths. Participatory science projects are a beautiful laboratory of practice, largely feasible with a few euros or with minimal organizational changes”.
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A radio friend
The projects received were evaluated by a scientific committee chaired by Ketty Vaccaro, head of the health area of the Censis Foundation: “Through all the very articulated proposals that we have received, we have perceived the needs of rare patients as in a mirror and we have discovered what they have managed to do on their own to overcome their difficulties. It is a profound need for knowledge and information has emerged, as has always emerged from the surveys that we as Censis carry out on the state of health of the country.We have received App projects but also recipe books that include the contribution of nutritionists and chefs, video games for children and in everyone there is always a reference to pathology and its knowledge.The other need that emerged from the projects is that of overcoming the limits of pathologies through access to ‘normality’ in order to be able to do things that we all take for granted in life everyday”. All projects are visible on the Projects | site #rarinsieme (scienceparticipata.it). The four projects presented during the conference immediately give an idea of the concept of participatory science. RadioAIdel22, born from the AIdel22 APS Association, through the universal language of music makes boys and girls and young adults protagonists through radio programs with daily live broadcasts.
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When tightening a moka takes effort
Another project is Una Mano moka designed for all those who have only one hand or a hand with reduced functionality. For these people, the daily gesture of squeezing the moka to prepare coffee independently becomes impossible. Thanks to the collaboration between a citizen with this problem and a carpenter, an “ad hoc joint” was created in wood in which the base of the moka is housed.
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Feel good even on vacation
There are also those who have thought about work-related needs. This is how Like your Home was born, a social-work integration model that facilitates accessibility in the tourism sector. It is the first non-hotel hospitality network managed by people with disabilities or with specific needs. People can become hospitality entrepreneurs by transforming their homes into tourist accommodation facilities. “Like your Home” therefore allows tourists with the same disability or specific need as the manager to have what they need available even during holiday periods.
A video game for ostomy patients
Talking about and explaining what bag management means in ostomate and incontinent patients is never easy and even more so for children. Stomycraft was born from this awareness, a video game that explains these topics in a playful way with a customization of the more famous Minecraft. A simulation, through gamification techniques, of real situations to improve the level of awareness and acceptance of patients, thus streamlining assistance, cultivating the relationship of trust between child and caregiver who can play together and encourage socialisation.
The language of art for rare diseases
Not just science: rare diseases can also be talked about through art in all its forms. Precisely for this reason, the ‘Il Volo di Pegaso’ literary, artistic and musical competition was created 15 years ago, whose works, this year, are inspired by the theme of peace. The Competition, which is part of the Cnmr Health Humanities Laboratory, is conceived and promoted by the Cnmr with the dual objective of offering expressive spaces to people with rare diseases, their families, health professionals, as well as all citizens, and to spread, even so, knowledge and awareness. Art is also the formula of the third edition of the communication campaign “#TheRAREside – Stories on the edge of rarity” of the Rare Disease Observatory with the patronage of the Rare Disease Alliance. The lives of people are narrated through 5 video-stories: no longer ‘special beings’ but individuals animated by common dreams, needs and interests, to break down the barriers between ‘us’ and ‘them’. Clara, Valentina, Mattia, Sara and Samuele: these are the names of the protagonists of #TheRAREside 3 who, through their lives, will lead viewers to discuss diagnosis, future, work, travel, mobility, animals and the impact of therapies on daily routine .
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