Welcome!
Notes on the site
You are currently visiting the website of the Piedmont and Aosta Valley Inter-Regional Network for Rare Diseases. The network is sponsored by the two Regions and is made up of health care specialists treating patients with Rare Diseases.
The aim of the Inter-Regional Network is to improve the care that is provided to patients suffering from these diseases through multidisciplinary efforts and by spreading knowledge about Rare Diseases.
Who is this site for?
The aim of this site is to provide support to patients, their families, associations, and health-care and social workers who are involved in the world of Rare Diseases.
I am a patient suffering from a Rare Disease
If either you, or a relative, or a friend of yours are suffering from a Rare Disease, this is where you can find information about the Piedmont and Aosta Valley service network and the rights you are entitled to.
In particular, you will find information concerning
legislation on health,
health-care and welfare benefits, as well as on which diagnostic and assistance facilities are available in Piedmont and Aosta Valley (Local Health Service, Hospitals, and Research Institutes-IRCCS). Information is also provided on
volunteer associations that specifically deal with Rare Diseases.
If you are looking for specific information about a Rare Disease you can consult the short outlines that are available on the website.
FAQ by patients
Below you will find answers to the questions that are most frequently asked by patients:
- My family doctor suspects I have a Rare Disease: what must I do?
- The specialist who examined me suspects I have a Rare Disease. What must I do to be granted exemption from payment of exams and medication?
- I was diagnosed with a Rare Disease in another Region (or in another Country). What must I do to be exempt from payment of exams and medication in Piedmont and Aosta Valley?
- Which services are patients with Rare Diseases entitled to exemption from?
- What medication and nutritional support for the treatment of my Rare Disease can I get for free?
- Where can I find a doctor who can treat my Rare Disease?
- Which volunteer associations can I turn to for help?
If you do not find the information you need, please contact the Piedmont and Aosta Valley Inter-Regional Network Coordinating Center for Rare Diseases (CMID) by calling 011-240-2127 (Monday to Friday from 9.00 a.m to 5 p.m. ) or by sending an e-mail to info@malattierarepiemonte.it
In no way do the contents of the website or the operators of the Coordinating Center who manage it mean to replace the advice of the physician who is an expert in the specific Rare Disease. The role of the center is to provide information that will help lead to a diagnosis and to treatment by the Regional Health System. .
FAQ by health-care assistant or social worker
If you are a worker who deals with patients suffering from an already diagnosed or a suspected Rare Disease, you will find information regarding the following points in this website.
- Legislation concerning the activities of the Rare Diseases network.
- Information about which diagnostic tests and health care treatments are provided by the Inter-Regional Network for Rare Diseases so as to appropriately guide the patient.
- Information about which genetic tests are performed in Piedmont and Aosta Valley and where these tests can be carried out.
- Information about which activities are activated by the Inter-Regional network Consortia, what the goals of the individual activities are, and who should be contacted in order to take part in the consortium's activities.
- Information about how a patient with a diagnosed or a suspected Rare Disease can gain access to exemption from payment.
- Information about what payment exemption criteria have been established for Rare Diseases in Piedmont and Aosta Valley.
- Information on the current laws regarding which drugs (and nutritional support) can be used to treat patients with Rare Diseases.
- Information about the volunteer associations that patients affected with Rare Diseases should be referred to.
If you are looking for information about a specific Rare Disease you can read the short outlines on the website.
If you are unable to find the information you need, please contact the Piedmont and Aosta Valley Coordinating Center of the Inter-Regional Network for Rare Diseases (CMID) by calling 011-2402127 (Monday to Friday from 9.00 a.m. to 5 p.m.) or by sending an email to info@malattierarepiemonte.it
What is a Rare Disease?
The term "Rare Disease" refers to a condition that affects fewer than 5 out of 10,000 people in the European Community. The World Health Organization (WHO) estimates that there are between 6,000 and 8,000 different Rare Diseases, and that about 10% of the world-wide population suffers from Rare Diseases.
The rarity of these conditions implies that, compared to patients suffering from common diseases, patients who are affected by rare disorders suffer from diagnostic problems (due to lack of information even among health professionals), limited treatment options, and greater emotional impact.
Moreover, several Rare Diseases are life-threatening or chronic and disabling.
Joint efforts, specific knowledge, and capillary information are all needed in order to face this group of diseases.
What has been done in Italy for Rare Diseases?
In Italy, Ministerial Decree 279, 2001 sought to provide the first response to patients suffering from Rare Diseases. Specifically:
- 341 Rare Diseases or groups of Rare Diseases have been included in the so-called "Essential Assistance Levels". In 2005, Piedmont, followed by the Aosta Valley, extended the exemption to 40 more diseases. Noteworthy, these diseases are exempt from payment of expenses in Piedmont and Valle d'Aosta alone.
- A National Network for the prevention, surveillance, diagnosis and treatment of Rare Diseases was set up. Piedmont and Aosta Valley subsequently implemented the decree and organized an Inter-Regional network involving every component of the Regional Health System.
- In order to recruit all patients with Rare Diseases, an Italian Registry of Rare Diseases was set up at the National Institute of Health.
Activities of the Inter-Regional network for Rare Diseases in Piedmont and Aosta Valley
Since 2008, the Regions of Piedmont and Aosta Valley have instituted a unique Inter-Regional coordinating center for Rare Diseases and have created a common Registry of Rare Diseases.
The Inter-Regional network for Rare Diseases was designed to develop a model of health care assistance that would guarantee the quality of diagnosis (including genetic analysis) in Centers with proven expertise and that would be able to offer patients the care they need in Institutions as close to home as possible.
The model is based on the promotion of widely shared diagnostic protocols, timely dissemination of health and legal information to the individual patient and to patients' associations, and the systematic use of the Regional Registry as a tool for identifying both critical problems (including delays in diagnosis and care) and areas of possible investment of resources.
The Piedmont and Aosta Valley Inter-Regional Network of Rare Diseases, which was founded on the principles of decentralization, is proving to be a unique experience in Italy. Its aim is to optimize the patients' access to treatment.
It is based on the activities of several consortia for homogeneous groups of Rare Diseases [link to pdf: consortium activities] that elaborate diagnostic and therapeutic protocols, thus providing optimal and uniform management of patients.
A detailed description of the activity of the Piedmont and Aosta Valley Inter-Regional network for Rare Diseases is provided in the attached document.
2011 Report
The report on Rare Diseases provides the user with a detailed and specific reference on the dynamic activity related to the treatment of Rare Diseases in the Piedmont and Aosta Valley.
Download the 2011 report in pdf.
Search for the list of payment-exempt Rare Diseases
Use the spaces below to search for information about a Rare Disease. The search can be carried out "by word" or "letter". If you need help to use the search forms, please read the help page.
These outlines are not intended to replace the advice of the physician who is an expert in the specific Rare Disease. Their role is to provide a brief, concise description of the main features of the disease. Should you require information about treatment centers or about who can provide you with further information, please contact the Coordinating Center of the Piedmont and Valle d'Aosta Inter-Regional Network for Rare Diseases.
Disclaimer: The data and information on this website are provided for information purposes alone. Although the contents have been prepared by taking all the necessary precautions for the proper representation of the data, no implicit or explicit guarantees are provided as regard to accuracy and completeness of the information.