Source: press office A.I.A.F. APS – Italian Anderson-Fabry Association
AIAF-Associazione Italiana Anderson-Fabryin collaboration with AOU of Padua presents the special episode of Leo da Vinci on the occasion of the Meeting “LA MALATTIA DI ANDERSON-FABRY” on
16-17 December in Padua.
Un amico raro (A rare friend), directed by Sergio Manfio, the cartoon that tells the fantastic journey in the fifteenth century of Fabrizio, a boy with Anderson-Fabry’s disease, and
his meeting with the young Leonardo Da Vinci, will be premiered on RAI Gulp on Friday 17 December at 7.25 pm.
This is the world premiere of the special episode of the animated series “Leo da Vinci”, broadcast in Italy on the Rai networks and on several networks around the world, a Rai
Ragazzi-Gruppo Alcuni-Cosmos Maya co-production. The episode “Un amico raro” (A rare friend), on the theme of rare diseases, was produced in collaboration with AIAF and the Multidisciplinary
Group for Adult Metabolic Diseases of the AOU of Padua.
The episode, after the premiere on Rai Gulp, will be available on Rai Play and, translated into several languages, will be distributed in Europe and worldwide; it will also be used by AIAF
in awareness-raising events.
Luca Milano, Director of Rai Ragazzi: – A successful animated series, Leo da Vinci, becomes the vehicle for an important message of awareness raising for children and families.
Knowing how to recognise rare diseases is the first step towards being able to fight them.
The collaboration with Gruppo Alcuni, which has always produced works related to social communication and the promotion of education for children, is fundamental.
I am particularly pleased with this collaboration,- says Francesco Manfio, co-founder of Gruppo Alcuni, – because it demonstrates what we have always maintained, namely the
fundamental role of animation in proposing extremely significant themes to the public, not just children. Un amico raro’ (A Rare Friend) is part of the same process that has led us to produce a
series on the Culture of Peace with Unesco and on Sustainable Development with the United Nations.
The director, Sergio Manfio, continues: – It is particularly important that this production has found the immediate support of Rai Ragazzi, a partner of many of our productions, in the
awareness of the fundamental public service role it is called upon to play.
“Un amico raro” won recognition as best animated short film at “The Rare Disease International Film Festival – Uno Sguardo Raro” and as best communication project at the “1° Rare Diseases
Award” at the Forum Sistema Salute Leopolda in Florence.
The episode will be launched by Stefania Tobaldini, President of AIAF, at the Meeting “LA MALATTIA DI ANDERSON-FABRY” on 16-17 December in Padua, an important scientific focus
for updating on the rare disease promoted by the A.O.U. of Padua with the Scientific Coordination of Dr. Gianni Carraro and Dr. Nicola Vitturi and the participation of the main
doctors and specialists at national level.
Obtaining a diagnosis for a patient is an obstacle course that can last several years, because the symptoms of Fabry disease are difficult to recognise. Often the diagnosis arrives when
the disease has already affected some organs irreversibly, with serious repercussions on the patient’s quality of life and reducing life expectancy, – explains Stefania Tobaldini, –
early diagnosis is therefore of fundamental importance. This is why we came up with the idea of using a powerful vehicle of dissemination such as “Leo da Vinci”, a successful cartoon that
gathers thousands of children and young people, as well as their families, in front of the video every episode, to talk about Anderson-Fabry disease and its paediatric symptoms, with the hope that
this may help to intercept people who are facing all the problems related to the disease but have not yet found a diagnosis.
Anderson-Fabry disease is a complex pathology that requires many different professional skills to be adequately managed, – explain Dr Gianni Carraro and Dr Nicola Vitturi of Padua
Regional Health Unit.- For some years now, the Padua AO has been offering patients comprehensive care, starting with neonatal screening (which, in addition to diagnosing the disease at
birth, allows us to identify adults in the same families who have not yet been diagnosed), then moving on to a Multidisciplinary Outpatient Clinic, which in just one day allows the patient to be
assessed by a team of Specialists (Metabolist Internist, Nephrologist, Cardiologist, Neurologist, Ophthalmologist, Nutritionist) and finally to the management of therapy, carried out in the
hospital or in the local area, but also at the patient’s home. It is from the work of this group that a global care model is born, which is strongly recommended for a complex disease such as
Fabry.
The development of the episode: in “Un amico raro” (A Rare Friend) Fabrizio, a boy with Anderson-Fabry disease, in a moment of particular dissatisfaction, dreams of entering the world of Leo and,
transformed into a cartoon character, has a series of adventures with his new friends.
Fabrizio’s “journey” therefore offers the opportunity to introduce the public to some of the symptoms of Fabry’s disease that have been manifesting since childhood, such as pain in the
hands and feet, the inability to sweat and problems with the body’s thermoregulation, chronic fatigue and gastrointestinal problems, which are normally mistaken for laziness or psychosomatic
disorders, thus delaying the moment of diagnosis, which often comes many years later.
Because of its high social value, the project has obtained prestigious patronage: Institutional (Veneto Region, MetabERN, the European Network for Hereditary Metabolic Diseases and
the University Hospital of Padua), Scientific Societies (SIP-Italian Society of Paediatrics, SIN-Italian Society of Neurology, SIN-Italian Society of Nephrology, FIMP-Italian Federation of
Paediatricians, SIIA-Italian Society of Hypertension, SINCAR-Italian Society of Nephrocardiology, SIMMESN-Italian Society of Metabolic Diseases and Neonatal Screening) and of Italian and
International Networks (ACP-Associazione Culturale Pediatri, Associations in the Network of Fondazione Telethon, Orphanet and FIN-Fabry International Network).
AIAF activity is supported in an unconditional way by: Sanofi Genzyme, Takeda, Amicus, Chiesi, Idorsia, Sangamo, HNP Healthcare Network Partners and Italiassistenza.
Press Office
A.I.A.F. APS – ITALIAN ASSOCIATION ANDERSON-FABRY
Founded in 2016, it is committed to offering support and protection to people with Anderson-Fabry disease with the aim of improving the quality of life of patients and families, providing
support in the various issues related to the disease. It organises networking activities for the benefit of the patient community, such as the annual national meeting and regional meetings
between patients and specialists (in person and virtually), and acts as a spokesperson for patients’ needs, offering advice on how to cope with everyday life. It has a telephone helpline and
provides information and updates via its website.
It carries out information and awareness-raising activities to increase knowledge and is present at the various tables where this pathology is discussed; it develops, promotes and implements
projects in the social-health field, interfaces with all the stakeholders (hospitals, institutions, pharmaceutical companies, etc.) to identify the best treatment and care paths in everyday life.
Together with its Scientific Committee, it works to promote the most effective diagnosis and treatment practices by funding research, including through scholarships.
ANDERSON-FABRY DISEASE
This is a rare genetic disease, characterised by the insufficiency of an enzyme called alpha-galactosidase, which leads to an accumulation of particular fats in various cells of the body. It
affects several organs, but mainly affects the kidneys, nervous system and cardiovascular system, and life expectancy is up to 30 years less than the rest of the population. It is estimated that
there are around 60 new cases every year in Italy, with a total of 700 patients living with the disease, but this number is largely underestimated.
It can have up to 800 different mutations and, since it has no specific symptoms, it is still little known, even by medical staff. It is therefore difficult to identify: from the onset of the
disease to its correct detection it can take up to 18 years for men and as long as 25 years for women.
