Diagnosing rare lysosomal storage disease can become as complicated as a treasure hunt: some patients have to wait up to fourteen years for their problem to be recognized. To make the diagnosis easier and faster it is necessary to increase the information and for this reason the digital treasure hunt is underway until June Rare who finds – together on the trail of Fabry diseases, Gaucher and Hunter syndrome, a social campaign to learn more about these pathologies.
Rare diseases but not too much
There are about fifty lysosomal storage diseases but Fabry, Gaucher and Hunter syndrome are the most important; it is estimated that one case for every 7700 new births every year, but specialists think that it knows the tip of the iceberg also because of the diagnostic delay which on average reaches up to ten, even fourteen years. These are metabolic pathologies caused by a defect in the enzymes that degrade large molecules of mucopolysaccharides, which are therefore not eliminated and accumulate in the cell, becoming toxic and leading to death. Macromolecules accumulate in lysosomes, the intracellular organelles with the function of recycling intracellular waste materials, explains Maurizio Scarpa, director of the Coordination Center for rare diseases of the Central Friuli Health Authority. Lysosomal storage diseases are genetic and inherited as autosomal recessive from two healthy carrier parents, with the exception of Fabry disease and Hunter syndrome which are inherited from the mother. It is not easy to know the actual prevalence of these diseases, due to the lack of specific registers and delays in diagnosis.
Know them to identify them
Symptoms occur in the first years of life but the delay in diagnosis compromises the possibility of timely therapy: there are in fact treatment possibilities that can greatly improve the symptoms and the course of these diseases, such as enzyme replacement therapy or drugs that can make work better than the faulty enzyme. They do not require hospitalization and are available throughout Italy, however, in order to offer essential therapy, recognize these diseases and so, precisely to disseminate information and shorten the time of diagnosis, the social campaign Raro chi Trova has started: nine influencers of the network will invite their followers to find information and clues about these diseases scattered and hidden in posts and stories published on their social profiles. The clues will be revealed at the end of each stage of the hunt by the influencers themselves on their Instagram profiles and on the campaign website, which will host the competition hood. The winner will be the fastest user to upload all the clues collected to the site at the end of the Treasure Hunt.
May 21, 2021 (change May 21, 2021 | 12:11)
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