Rare diseases: definition, Day, list, in women

the February 28, 2022 takes place the International Rare Disease Day. These pathologies are rare in terms of their frequency, but there are so many rare diseases that there are many patients. In France, more than 7,000 diseases are classified as “rare” and more than 3 million people are affected by a rare disease. These pathologies represent a real public health challenge. What is a rare disease? A rare bone disease? Eyes ? Neurological? Some blood ? What are the rare female diseases? What is the support?

Definition: what is a rare disease?

A disease is qualified as “rare” when it affects less than one in 2,000 people, i.e. for France less than 30,000 people for one pathology. A rare disease is often severe, chronic and progressive, with an increased risk of complications and significant repercussions on the quality of life of patients and their families. A rare disease can impact physical, sensory, mental or psychic functions. More than half of rare diseases start in childhood.

A disease is considered “rare” when it affects less than 1 in 2,000 people.

In effect, “in half of the cases, they concern children under the age of 5 and are responsible for 10% of deaths between one year and 5 years“, indicates the Ministry of Health in a press release dated May 25, 2021. When a disease affects only a few dozen people in the world, it is said to be “super rare“Every month, several new rare diseases are discovered around the world.

► It is said thata disease is orphan when it is rare and does not receive effective treatment.

► Note that rare cancers and rare infectious diseases do not fall within the scope of rare diseases as currently defined in France, specifies the Ministry of Health.

When is Rare Disease Day in France?

The 15th edition of the International Day of Rare Diseases (JIMR or Rare Disease Day in English) takes place on February 28, 2022 in France (or February 29 in leap years, as it is the rarest day). Created in 2008 by EURORDIS – a non-governmental alliance of patient associations representing nearly 1,000 associations of patients suffering from rare diseases in 74 countries – this day of mobilization aims to bring together and educate patients and families, health professionals and the general public on rare diseases and their repercussions. For the occasion, several animations take place in the cities of France:

• In Lillethe Lille University Hospital’s rare disease expertise platform, PLEMaRa, is organizing several events on February 20 and 28, in association with rare disease professionals from the Lille University Hospital and the Alliance Maladies Rares, including a concert by the symphony orchestra European Sunday February 20 from 4 p.m. at the Nouveau Siècle in Lille and the illumination of monuments from Lille Monday, February 28, where everyone is invited to take a selfie at the foot of the illuminated monuments while wearing the three colors of the international rare disease day on their cheeks: blue, pink and green and by sharing the photos on social networks with the 2 hashtags launched for the occasion: #HeroAuQuotidien and #RareDiseaseDay
• A photographic exhibition, called “Co-wandering, a history of diagnosis” was created by the artist-author Djamila Beldjoudi-Calin. The exhibition will be visible on February 20 from 3 p.m. at the Nouveau Siècle in Lille, then from February 21 to March 7 in the Hall of Pediatrics of the Jeanne Hospital of Flanders.
• The Alliance Maladies Rares has rolled out an awareness campaign on rare diseases “make the invisible visible” through a photo exhibition of 12 portraits will travel through 5 French cities: Nancy plot Saint Sébastien from January 12 to January 20, Nice Exhibition Center – Nice Acropolis, Parvis de l’Europe from January 24 to February 1, Toulouse esplanade François Mitterrand from February 3 to February 11, Lille Grand Place from February 16 to February 24 and Paris from February 25 to March 4 (subject to change)
• Scientific conference “research in rare diseases” February 24, 2022 at Strasbourg

What are the origins of rare diseases?

► 80% rare diseases have a genetic origin

► 20% rare diseases have a non-genetic origin:

• Infectious origin
• Teratogenic originfollowing a substance that may increase the risk of fetal abnormality (Depakine, Distilbène, Alcohol, etc.)
• Immunological origin
• Environmental origin…

What are rare bone diseases?

• Osteogenesis imperfecta
• Hypochondroplasia
• Primordial dwarfism
• Multiple exostoses
• Fibrous dysplasia, McCune-Albright syndrome
• Weaver syndrome.
• Sotos syndrome and Sotos-like syndrome.
• Marshall-Smith syndrome.
• Proteus syndrome.
• CLOVE-syndrome
• Marfan syndrome
• Pathologies related to calcium phosphate metabolism: tumoral calcinosis, pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), progressive bone heteroplasia, hypophosphatemia (X-linked or not)
• Dysostosis (skull, vertebrae, kneecaps, limbs): if a multidisciplinary approach is needed, depending on the syndrome and overall pathology…

What are rare blood diseases?

• Acquired thrombotic thrombocytopenic purpura
• sickle cell disease
• Betathalassemia
• Hemophilia A and B…

What are rare eye diseases?

• Congenital cataract
• Retinal degeneration
• Optic nerve atrophy
• Eye malformations
• Retinitis pigmentosa
• Usher syndrome
• Retinoblastoma…

What are the rare diseases of the spinal cord?

• Syringomyelia
• transverse myelitis
• Spinal infarction

What are rare skin diseases?

• Hereditary ichthyosis and palmoplantar keratoderma
• Epidermolysis bullosa
• Ectodermal dysplasias, syndromes with skin fragility, X-linked syndromes and unclassifiable diseases, hair abnormalities
• Non-bullous autoimmune diseases

What are the rare neurological diseases?

Near 800 rare neurological diseases are described in France. Among them :

• Charcot’s disease (ALS)
• Rett syndrome
• Huntington’s disease
• Dystonia
• Progressive supranuclear palsy (PSP)
• Prion diseases
• Ataxias
• Spastic paraplegia
• Frontotemporal degeneration (FTD)…

What are the rare diseases in women?

Some rare diseases mainly affect women. Among them :

• Turner syndrome
• Rokitansky syndrome
• Breast polyadenomatosis
• von Willebrand disease
• Prader-Willi syndrome

What is the management of a rare disease?

Rare diseases are characterized by a great diversity in clinical manifestations and symptoms, which complicates the diagnosis. Due to their rarity and diversity, they cannot all be studied in medical studies. Some are therefore linked to a lack of information from health professionals and the medico-social sector. Reference centers (CRMR) cover the entire national territory and are made up of reference centers and centers of competence (or resources and competences), which provide care and organize the health pathways of people affected by or suffering from illnesses rare. To follow up on a rare disease, it is necessary to contact his referring doctor, which will specify the appropriate consultation methods. (remote or face-to-face consultation). It is also possible to refer to the recommendations available on the Orphanet portal.

Sources: Rare diseases sheet, Ministry of Health, 05/25/2021 / Rare diseases: patient care and support guide, ARS Grand Est / 2019 Activity report Health and Rare Diseases sector, 3 November 2020, Ministry of Health / Association Alliance Maladies Rares