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Rare Diseases

I have a Rare Disease? What do I have to do?

There are several steps to be followed to understand the world of rare diseases: from the diagnosis to the care centres and the Associations of patients.

1) Suspect of rare disease.
Reaching the diagnosis of a rare disease often requires a long time. For this reason general practitioners should be trained and informed in order to be able to raise a diagnostic suspicion and address the citizen to the specialized centres included in the National Rare Diseases Network. If the general practitioner suspects that the patient is affected by a rare disease, he/she should address him/her to an hospital presidium included in the national network of rare diseases. The patient, then, will be able to take all needed tests free of charge.

2) Verification and certification of diagnosis
The presidium included in the National rare diseases network, identified by the Region by a Regional Committee Resolution, will carry out, in exemption from contribution, all tests (included genetic tests) aimed at the diagnostic verification. The presidium, once reached the diagnosis, will provide the patient with a rare disease certificate.

3) The exemption from contribution
When the patient has been supplied the rare disease certificate, he/she can request to his/her Asl the document of exemption from contribution which has an unlimited duration and a national validity. This document allows the patient to visit doctors, take tests for monitoring the evolution of the disease and for prevention of further aggravations. Each Region, in respect to the national regulations, can provide further services free of charge.

4) Where to go for treatment and support
The patient can refer to the national rare diseases network presidia identified for the specific pathology also to take tests and examinations aimed at monitoring the evolution of the disease and to prevent further aggravations.

Moreover the various Associations of patients play a fundamental role, allowing patients and their families from the whole national territory to dialogue and share experiences. To find out the presidia dealing with rare diseases visit the related sections of this website.
5) Who to ask information
Information on rare diseases and on the national network is available on this website, in the Regions’ websites and can be requested to the Rare Diseases Toll Free Number (TVMR-Telefono Verde Malattie Rare) dialing: 800.89-69-49. The service is free, available nationally, including mobile phones, from Monday to Friday 9.00a.m. to 1.00p.m. For external websites please visit the Link section.

Published 19-03-2008 in Rare Diseases , last update 16-05-2008


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