Do you know what disease it is? Find out with a game

Do you know what disease it is?  Find out with a game


Can you find the hidden object, find the differences or the shortest way out of the maze? It is not the puzzle week, but the puzzles of Bravo chi trova, the original format of the third edition of the ‘Raro chi trova’ campaign which, with games of logic and intuition, aims to help parents get on the trail of lysosomal storage diseases in the belief that even if the disease is rare you can find it. And noticing the signs of these diseases early can really make a difference for young patients and their families.

What and what are lysosomal storage diseases

Lysosomal storage diseases are a group of rare but serious genetic disorders in which a malfunction in lysosomes – the cellular structures that break down excess molecules – leads to the accumulation of toxic substances in cells. This buildup can cause progressive damage to organs and tissues, with symptoms that vary depending on the specific disease and the area of ​​the body affected. The most frequent and well-known ones are Gaucher and Fabry disease, but also mucopolysaccharidosis diseases, Pompe disease, Tay-Sachs disease and Niemann-Pick disease.

Why early diagnosis is important

Unfortunately, these diseases are insidious because they can remain hidden and cause no symptoms for many years even if present since birth. “The diagnosis is a crucial moment for young patients and their families. Gaucher disease can manifest itself differently from case to case depending on whether it is type I, II or III – he declares Fernanda Torquati, president of Aig (Italian Gaucher Association). Affected children can be asymptomatic and have a normal life or they can have very severe forms. Without a certain or, worse, late diagnosis, not only does Gaucher disease worsen but life expectancy itself is reduced, even by decades.”

Newborn screening

Extended newborn screening (ENS) can help thousands of children who every year suffer from very serious disabilities or premature death because it allows for the timely diagnosis of congenital diseases in the preclinical and pre-symptomatic phase, and for the initiation of available therapies and the most appropriate treatments for the clinical case at the first symptoms or even before they appear. Italy has the most advanced newborn screening policy in Europe, with over 40 inherited metabolic diseases included in the extended newborn screening panel.

Expand screening for treatable diseases

The 2019 budget law establishes the inclusion of 10 additional metabolic pathologies, including lysosomal storage diseases, but unfortunately this is a need that is currently not yet satisfied. “Receiving a diagnosis of LSD is a tragedy for the child and for the whole family – he comments Flavio Bertoglio, president of Aimps (Italian Association of Mucopolysaccharidoses and Related Diseases Ets). These are diseases that upset and destabilize family, work and relational dynamics. Especially post-diagnosis. In this sense, newborn screening takes on an absolute value. It is unthinkable and unlikely that a pediatrician with all the good will will be able to decode a lysosomal storage disease, therefore, in most cases a long time passes before a diagnosis is reached. The keystone is precisely neonatal screening, for this reason, in order to avoid blanket screening of all newborns and overcome the famous ‘attachments’, Aimps has presented a very simple proposal to the legislator: to subject all newborns to neonatal screening rare diseases that have, or will have, a recognized therapy”.

‘Coaching’ parents

Precisely because early diagnosis is fundamental, parents have the arduous task of recognizing the signs, which is not an easy task. Yet, with a little attention and training it is possible to find a clue and get on the trail of these diseases. Play and discovery are the common thread of the three editions of “Raro Chi Trova”, an awareness campaign on Fabry and Gaucher diseases and Hunter syndrome, promoted by Takeda Italia with the patronage of the Italian Society of Pediatrics (Sip) , Italian Anderson Fabry Association (Aiaf), Italian Gaucher Association (Aig) and Italian Association of Mucopolysaccharidosis and Related Diseases (Aimps). “Inform parents how this awareness campaign is proposed – he observes Stefania Tobaldini, president of the Italian Anderson-Fabry Association – is essential to increase knowledge and is the first step towards awareness to discover Fabry disease early. Knowing if your child has a rare pathology helps the family to face and not suffer its consequences, to bear the burden from an emotional and management point of view, avoiding wandering from one doctor to another”.

The ‘Raro Chi Trova’ campaign

The 16 functional games of ‘Bravo Chi Trova’ represented by cartoons and riddles with as many colorful illustrations, propose different skill tests that can be solved with a little logic, intuition and training. From today, on a weekly basis, a game will be posted on the updated ‘Raro Chi Trova’ Instagram profile. Users will be able to share their solutions in the comments of the post and the solution to the puzzle will be published at the end of each month. The heart of the campaign is the updated landing page which offers users information and resources to learn about LSD with a focus on diseases and extended neonatal screening, downloadable in-depth infographics, previous editions of the campaign and four other sections with news ; the podcast “Lsd in a nutshell”: 4 audio pills of a few minutes each, narrated by Marco Cattaneo, director of Le Scienze, to answer parents’ most frequent questions and doubts. The podcast will be broadcast on the main platforms, such as Spotify and Amazon Music. Finally, the ‘Bravo Chi Trova’ booklet with all the games, which can be downloaded from the campaign website


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