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Deployment of the first national policy on rare diseases

The Minister of Health and Social Services, Christian Dubé, accompanied by his parliamentary assistant, Marilyne Picard, announced today the establishment of the first Quebec policy for rare diseases.

QUEBEC CITY, June 6, 2022 /CNW/ – This aims to optimize the accessibility of quality, safe, equitable, inclusive health care and services adapted to the specific needs of patients with rare diseases and their families.

The policy, which was the subject of a consultation process mobilizing 24 rare disease organizations as well as other organizations specialized in this sector, is based on three main axes. This involves raising awareness and training, in particular for health professionals, easier and equitable access to diagnosis, care and services, as well as the promotion of research, innovation and of data collection.

Each of the axes is subdivided into several concrete objectives. These are part of the vision of the Plan to implement the necessary changes in health in which the government is committed to innovating in the development of and access to innovative treatments.

Note that there are between 5,000 and 8,000 rare diseases in the world. In Quebec, this represents approximately 700,000 people. Although there are several types of rare diseases, 80% of them are genetic. Rare diseases affect people of all ages and can manifest from prenatal to adulthood.

An advisory committee has been set up to develop an action and implementation plan over the next few months. Several sub-committees dealing with issues specific to rare diseases are also in place. Consultations may also be held with stakeholders during the work.

Quotes:

“The lack of knowledge we have of rare diseases in the medical community leads to many challenges in terms of accessibility for those affected and their families. Through this policy, which is a first in Quebec and Canada, our government is committed to providing better access to diagnosis and treatment, as well as to providing patients with reliable information on the disease or support . I want to change things in a lasting way, with the support of our teams across the network. »

Christian Dubé, Minister of Health and Social Services

“Rare diseases involve important issues that concern many Quebec families. I know personally what this reality is on a daily basis. I know the difficulties that such a situation entails, as well as the importance of improving access to the services offered by the health and social services network to help people living with this reality. This policy is a great step forward for our entire community, and I am very proud to present it today. »

Marilyne Picard, Parliamentary Assistant to the Minister of Health and Social Services

Highlights:

– Among the rare diseases that can affect patients, let us mention, in addition to genetic diseases such as cystic fibrosis, several types of muscular dystrophy or hemophilia, autoimmune diseases, such as scleroderma, malformations and diseases of toxic or infectious origin.

– These diseases are generally serious and debilitating and may include chronic pain, impairment or damage to several organs or systems.

– The rarity and lack of knowledge of rare diseases in the medical community leads to many challenges for people with the disease when it comes to obtaining a diagnosis, treatments, reliable information about their disease or support. Access to services in the regions is an additional challenge for patients living outside major centres.

– It should also be emphasized that since the number of people suffering from the same disease is often very small, pharmaceutical companies are more hesitant to invest in the development of a drug or, when this is the case, the proposed treatment is excessively dear.

– Remember that some programs offering services for rare diseases exist in Quebec, or are in the process of being developed. These include the Quebec Neonatal Blood and Urine Screening Program and the Quebec Molecular Diagnostic Network.

Health Index publication: 2022-06-06 – Number of visits since publication: 14

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