How did the project come about?
MALATIRARI – VIDEO CONSULTATION is the result of a project that the UNIAMO Federation (Uniamo Italian Non-profit Federation for Rare Diseases - www.uniamo.org) submitted as an entry to the “Digital for Social” competition run by the Vodafone foundation. UNIAMO's aim is to use this project to meet a need identified by various research projects in the field of rare diseases: the need to quickly receive correct and up-to-date information of interest, together with the possibility to talk to people who have had the same experience and with qualified professionals.
What is MALATIRARI – VIDEO CONSULTATION?
This innovative web platform allows those suffering from rare diseases, or those with a suspected rare disease, to get in touch and talk with a network of UNIAMO-certified professionals, right from the comfort of their own home. This is possible thanks to a video conferencing and video consultation system involving professionals from a range of areas.
Who can I talk to using the MALATIRARI – VIDEO CONSULTATION platform?
Doctors and specialists, psychologists and consultants, admin staff, representatives for associations of people suffering from rare diseases, people affected by rare diseases, relatives of people affected by rare diseases, people who have already gone through the experience of living with a rare disease and who - by sharing their experience - can help those who are at the start of the process.
What is a rare disease?
A disease is defined as being rare when the number of cases within a certain population is below a set threshold. In the EU, the threshold is set at 0.05% of the population, meaning 5 cases for every 10,000 people.
How many rare diseases are there?
There are around 6,000 known rare diseases diagnosed by the WHO, but this figure is on the increase due to scientific breakthroughs and, in particular, the progress being made by genetic research.
How many people suffer from rare diseases?
There are millions of people with rare diseases all over Europe. According to the estimates made by MonitoRare's report on the condition of people with rare diseases in Italy (2015) (“Primo rapporto sulla condizione delle persone con MR in Italia”), there are between 450,000 and 670,000 people suffering from a rare disease in Italy. 70% of rare diseases emerge during childhood (0-18).
What rare diseases are there?
You can find an up-to-date list of rare diseases here:
Is it possible to get in touch with ePags? (European Patient Advocacy Groups)?
Yes, it’s possible. Patient representatives from European Reference Networks (ERNs) also form part of the community, making it easier to gain access to this important system wherever possible. The interpreting service provided, covering a number of languages, also opens the network up to international experts, respecting European guidelines on rare and complex diseases.
What is meant by exemption from contributing to the cost?
Italian Ministerial Decree no. 279/2001 lists the rare diseases that are exempt in its attachment. This decree also created the (Italian) National register of rare diseases, held at the Istituto Superiore di Sanità (National Institute of Health), which is regularly updated with data from regional/cross-regional registers.
What is meant by affordable care and reimbursements?
The (Italian) National Care Handbook (‘Prontuario Terapeutico Nazionale’) includes a list of all medicines on sale in Italy. In order to ask for reimbursements from the Italian National Health Service (‘Servizio Sanitario Nazionale’), medicines are divided into three categories: ‘A’, ‘H’ and ‘C’. Category A includes all essential medicines used to cure chronic diseases, which are completely reimbursed by the Italian national health service. Category H includes medicines that are reimbursed by the Italian national health service as long as they are only used by hospitals or similar structures. Category C includes medicines that citizens have to pay for completely themselves, as they are not considered essential or “life-saving”, used for mild or minor conditions.
What is the network of rare diseases?
A diagnostics, clinical care and epidemiological network, made up of accredited facilities appointed by Italian regional authorities. Italian Ministerial Decree no. 279 dated 18th May 2001, the “Regulation for the establishment of the National Rare Disease Network and exemptions from contributing to the cost of the relative healthcare services”, was the first to mention a rare disease network.
What is an accredited Facility, or Centre of Expertise, for Rare Diseases?
Italian Ministerial Decree no. 279 dated 18th May 2001 launched an accreditation system for accredited Facilities, also defined as “centres of expertise” for rare diseases. Today, following a review based on the Lorenzin Ministerial Decree: “Centres of expertise are functional units, made up of one or more organisational/operative units, where the Diagnostic Pathway is managed in order to identify the disease as early as possible, and where the ‘Individual Overall Healthcare Pathway’ is defined for the person with the rare disease. These centres must guarantee specialised, multidisciplinary expertise in the fields of diagnosis, treatment and care, aimed at maintaining a patient's functions and autonomy, their quality of life and their dignity, and helping them to integrate into various family and social situations. They must therefore have a large catchment area and develop clinical research. Centres of Expertise must maintain links between the measures implemented by the various healthcare providers, including hospital networks and local primary care and rehabilitation networks, as well as keeping clinical records and tracking the development of patients’ health, including the transition from childhood to adulthood” (Definition from the EUROPLAN 2 project)
What are the European Reference Networks (ERNs)?
The European Commission defines them as: “[…] virtual networks involving healthcare providers across Europe. They aim to tackle complex or rare diseases and conditions that require highly specialised treatment and a concentration of knowledge and resources”. ERNs are therefore networks of centres of expertise and healthcare facilities that support doctors and researchers in sharing their expertise, knowledge and resources across the EU, meaning that the knowledge travels rather than the patient.
What European Reference Networks (ERNs) are there?
An up-to-date list of ERNs is available here:
What is meant by “patient management”?
Patient management refers to the set of coordinated interventions that meet the care needs of every single person, taking into consideration their family circumstances and life situation. These solutions are dynamic as they may change over time.
What are Diagnostic, Treatment and Care Pathways?
Diagnostic, Treatment and Care Pathways are a clinical management tool used to define the best healthcare pathway for a patient, in order to meet their specific health requirements based on recognised recommendations (guidelines), adapted to the local context.
What is meant by “Empowerment”?
“Empowerment” is defined as a social process through which patients, organisations and communities gain the necessary skills to manage their own lives, changing their social and political surroundings in order to improve equality and quality of life. In addition to the psychological aspect of empowerment, this also takes into consideration organisational and community points of view, presenting the meaning of empowerment on different levels, including: psychological, organisational and social.
Does empowerment only refer to patients?
No. Empowerment is a tool and, at the same time, an objective of health promotion. So, we really need to talk about a “health system”, where all stakeholders are involved in planning and verification, not just the patients.
What is genetic counselling?
Genetic counselling is a complex communication process which, depending on the various factors affecting organisation and implementation methods, may involve several professional figures in addition to the doctor and/or biologist specialised in medical genetics, according to their specific areas of expertise.
What is the genetic pathway?
The genetic pathway schematically includes one to three phases, or subsequent operative stages. There is only one phase if there is only genetic counselling, but if this leads to genetic tests being carried out, then three phases are involved: pre-test genetic counselling, genetic testing, post-test genetic counselling.