PMRSi in short
Patients with rare diseases and their families must cope with several challenges. Often it takes years until it is possible to make a precise and correct diagnosis, the reason being the limited scientific and medical knowledge concerning the specific rare diseases. This often leads to therapeutic treatments that do not tackle the root causes. If there is a treatment available for the people concerned, often they are not available yet though. Be it because they are not yet recognized or because they have not yet been admitted to the list of drugs that are being reimbursed by health insurances. For those affected this creates manifold inconveniences and insecurity. For patients in less central regions there is the added hardship to undertake exhausting trips to specialized centers. In turn, this creates additional costs to gain access to the therapies, in addition to the fact to being exposed to a culturally and linguistically foreign region.
The Rare Diseases Platform Italian Switzerland aims to better the situation of those affected in Italian Switzerland. The platform demands that the measures of the national concept take into account this situation and that better coordination and clearer processes be established.
The platform was founded in October 2016 and unites all actors of Italian Switzerland that are active in the field of rare diseases. As Co-Presidents the following persons were designated: Dr. med. Fabrizio Barazzoni (Ente Ospedaliero Cantonale), Prof. Dr. med. Stefanos Demertzis (Fondazione Cardiocentro Ticino) and Dr. phil. Claudio Del Don (Associazione malattie genetiche rare Svizzera italiana).