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Little known to the general public, they nevertheless concern several million French people, mainly children. The explanations of Nicolas Jan, head of operations at the Rare Diseases Foundation.
What is a rare disease?
- According to a definition common to all European countries, a disease is considered rare when it affects less than one person in 2000. A disease is called orphan when there is no medicine to treat it: it is the 90% of rare diseases. The two terms are unfortunately almost synonymous. There are 7 to 8,000 rare diseases identified to date.
How many patients do we have?
- These diseases affect 3 million French, 70% of children. Some affect a large number of patients (around 7000 for example for cystic fibrosis), while others affect only a very small number (2 or 3 maximum for progeria, a pathology causing accelerated aging).
Are these diseases serious?
- Most often it is indeed severe diseases, some even life-threatening (they are responsible for 10% of deaths between 1 and 5 years). Many are disabling and lead to a motor, intellectual or sensory disability that makes the daily lives of patients very difficult. For 10% of them, there may be total loss of autonomy.
What are the causes of these diseases?
- At more than 80%, they have a genetic origin. For example, cystic fibrosis, most myopathies, certain diseases of the nervous system such as Huntington's disease, certain ocular conditions such as Leber's optic neuropathy or retinitis pigmentosa, and the disease of glass bones. Other causes may be infectious (legionellosis, Whipple's disease), autoimmune (systemic scleroderma, systemic lupus erythematosus) or cancerous (glioblastoma).
How is the rarity of these diseases a handicap?
- This scarcity jeopardizes the possibility of rapid diagnosis: general practitioners, seen by first-line patients, can not know the 7000 rare diseases! It often follows a long wandering (on average four years) before a diagnosis is made by an expert. Moreover, the small number of patients involved in each disease does not really encourage research to examine its causes and mechanisms, nor does the pharmaceutical industry find a cure. Even though the growing publicity about this cause and the incentives from the public authorities are gradually moving the lines, we should give more resources to research!
How is the care of the sick organized?
- There are 387 Rare Disease Reference Centers (RRCs) in France located within CHU, centralizing all the expertise for a disease or a group of diseases: for example the Reference Centers for rare dermatological diseases, the Reference Centers for Diseases digestive and intestinal. More than 1840 Rare Disease Competence Centers (RCCs), working in collaboration with the first, allow a network of all the French territory.
Where to find information
- For information on different diseases, the latest research and treatments or to obtain the list of expert centers, you can visit the Rare Diseases Platform www.plateforme-maladiesrares.org.
It brings together six entities:
- Rare Disease Alliance www.alliance-maladies-rares.org
- Rare Diseases Info Services www.maladiesraresinfo.org
- Orphanet-Inserm www.orpha.net
- Rare Diseases Foundation www.fondation-maladiesrares.org
- AFM Telethon www.afm-telethon.fr
- Eurordis www.eurordis.org
Isabelle Gravillon for Notrefamille