HOW can the quality of life of people with rare diseases be improved? Million dollar question. So, to find answers, a project was started Citizen science, literally of science made by citizens. Is called “Participatory science for improving the quality of life of people with rare diseases” and is aimed at everyone: citizens, researchers, schools, associations and institutions. An opportunity for many to be able to contribute to scientific activity, sharing ideas, experiences, solutions, technologies, and new strategies to concretely help those affected by these pathologies. The project, funded by the Ministry of Health, is coordinated by the National Center for Rare Diseases of the Istituto Superiore di Sanità (ISS), and also aims to raise awareness on the issue through different languages and tools.
New ideas wanted
To manage a rare disease, people who are affected by it and their caregivers must coordinate a whole series of activities and related aspects: managing specialist examinations to get the correct diagnosis, obtaining medicines, administering them at home and away from home, organizing rehabilitation therapies and medical examinations, but also obtaining exemption and recognition of disability and accessing social support services. In addition, efforts are made to ensure that the person with a rare disease can integrate into school or work. In short, a mountain of tasks that can make everything very complicated, even more so if you do not have adequate human and technological support.
This is why the ISS call identified 7 specific areas in which participants’ ideas and solutions could help simplify the lives of people with rare diseases and their families in many of these aspects. Starting with mobility and autonomy, that is, tools to facilitate movements and physical activities, and strategies that help to provide for daily needs. Then there are the areas that concern communication, such as computer aids and apps, sport and free time, and cognitive ability, that is, alternative training methods and innovative solutions for learning. Finally, the areas of emotion management, such as stress, anxiety and aggression, and social, school and work inclusion.
Home care is insufficient for rare patients
by Anna Lisa Bonfranceschi
The initiative is based on the collaboration between civil society and institutions: it is often the patients themselves, or in any case people who work at various levels in the field, who think and develop solutions and strategies, while the institutions share them on a special platform to put them available to all. “This creates a sort of virtuous circle in which a solution tailored to a specific pathology can also be useful for people in similar conditions”, comments Silvio Brusaferro, president of the ISS.
How to participate and for when
By connecting to the #rarinsieme site you can download the announcement and the form that you need to fill in to participate. The projects must be sent by next October 30th. Everyone can participate for one or more thematic areas, the important thing is that the proposals are not covered by copyright or patents. A multidisciplinary scientific committee, made up of representatives of citizens and patients, health professionals and the scientific community, will evaluate them, and those admitted will be shared on the initiative website and on the Telefono Verde Malattie Rare social networks.
More than 8000 rare diseases
Rare diseases affect 0.05% of the population, about one person in 2,000. To date, over 300 million people around the world are living with one of the 8 thousand existing rare diseases. The estimate in Italy is over 2 million people, of which 1 in 5 is under the age of 18. The cause is genetic in 80% of cases and multifactorial in the remaining 20%. Many are present from birth, others can manifest themselves in adulthood. The therapy is only decisive for some of them; for many, however, the treatment remains supportive, based on physical and mental rehabilitation and re-education programs.
500 thousand euros to improve the treatment pathways
by Dario Rubino
Often those suffering from one of these diseases without receiving support cannot even carry out the simplest daily activities and find it difficult to relate to others. Disability can in fact affect the intellectual, psychic, motor, communicative-relational, behavioral and sensorial spheres (especially hearing and sight). For these reasons, many, including family members, are forced to reduce or suspend their professional activity. And many difficulties often arise even before receiving the diagnosis, because in several cases getting to give a name to the disease is already a success: there are patients who wait even several years before receiving confirmation of a diagnosis, some are forced to move to other regions to get one.
What participatory science can do
“We believe in the disruptive power of ‘citizen science’ to break down barriers and overcome the limits of silos, that is, that way of conceiving science as a field in which specific skills would not need continuous interaction and exchange with other sectors “, concludes Domenica Taruscio, director of the National Center for Rare Diseases of the ISS, who hopes that the project will represent an opportunity for many citizens to co-design possible solutions, with concrete benefits for the lives of people with rare diseases and disabilities. “From this initiative we expect a greater dissemination of knowledge, the enhancement of the skills of people not necessarily qualified in the scientific field, and more awareness on rare diseases and disability in general”.