RARE
Opening day: November 6, 2007
The concept of disease
The general definition of a disease is as follows: a disease is an impairment of health or a condition of abnormal functioning. WordNet It is a pathological condition of a part, organ, or system of an organism resulting from various causes, such as infection, genetic defect, or environmental stress, and is characterised by an identifiable group of signs or symptoms. Answers.com A patient will define himself or herself as affected by either a disease or a disorder. In this document the word "disease" is used.
The concept of rarity - Figures of rarity
"A rare disease is a disease that occurs infrequently or rarely in the general population". In order to be considered as rare, each specific disease cannot affect more than a limited number of people out of the whole population, defined in Europe as less than 1 in 2,000 citizens (EC Regulation on Orphan Medicinal Products). This figure can also be expressed as 500 rare disease patients out of 1 million citizens. While 1 out of 2,000 seems very few, in a total population of 459 million citizens this could mean as many as 230,000 individuals for each rare disease. It is important to underline that the number of rare disease patients varies considerably from disease to disease, and that most people represented by the statistics in this field suffer from even rarer diseases, affecting only one in 100,000 people or less. Most rare diseases do only affect some thousands, hundreds or even a couple of dozens patients. These "very rare diseases" make patients and their families particularly isolated and vulnerable. It is worth noting that most cancers, including all cancers affecting children, are rare diseases.
Despite the rarity of each rare disease, it is always surprising for the public to discover that according to a well-accepted estimation, "about 30 million people have a rare disease in the 25 EU countries", Background Paper on Orphan Diseases for the "WHO Report on Priority Medicines for Europe and the World" - 7 October 2004 which means that 6% to 8% of thetotal EU population are rare disease patients. This figure is equivalent to the combined populations of the Netherlands, Belgium and Luxembourg. Quoting from the Background Paper on Orphan Diseases for the "WHO Report on Priority Medicines for Europe and the World" - 7 October 2004: "Unfortunately, the epidemiological data that are available are inadequate for most rare diseases to give firm details on the number of patients with a specific rare disease. In general people with a rare disease are not registered in databases. Many rare diseases are summed up as "other endocrine and metabolic disorders" and as a consequence, with few exceptions, it is difficult to register people with a rare disease on a national or international basis, and in a reliable, harmonised way". In the case of rare cancers, many registries do not publish sufficient data that break down figures of rare tumours by type, even though this information might be available from pathological examination of tissue removed during surgery. It is worth noting that each and every one of us is, statistically speaking, a carrier of 6 to 8 genetic abnormalities, which are, usually but not always, recessive ones in their transmission. These abnormalities generally have no consequences, but if two individuals carrying the same genetic abnormality have children, these may be affected.
"Rare Diseases : Understanding this Public Health Priority" Eurordis, November 2005 - www.eurordis.org
The general definition of a disease is as follows: a disease is an impairment of health or a condition of abnormal functioning. WordNet It is a pathological condition of a part, organ, or system of an organism resulting from various causes, such as infection, genetic defect, or environmental stress, and is characterised by an identifiable group of signs or symptoms. Answers.com A patient will define himself or herself as affected by either a disease or a disorder. In this document the word "disease" is used.
The concept of rarity - Figures of rarity
"A rare disease is a disease that occurs infrequently or rarely in the general population". In order to be considered as rare, each specific disease cannot affect more than a limited number of people out of the whole population, defined in Europe as less than 1 in 2,000 citizens (EC Regulation on Orphan Medicinal Products). This figure can also be expressed as 500 rare disease patients out of 1 million citizens. While 1 out of 2,000 seems very few, in a total population of 459 million citizens this could mean as many as 230,000 individuals for each rare disease. It is important to underline that the number of rare disease patients varies considerably from disease to disease, and that most people represented by the statistics in this field suffer from even rarer diseases, affecting only one in 100,000 people or less. Most rare diseases do only affect some thousands, hundreds or even a couple of dozens patients. These "very rare diseases" make patients and their families particularly isolated and vulnerable. It is worth noting that most cancers, including all cancers affecting children, are rare diseases.
Despite the rarity of each rare disease, it is always surprising for the public to discover that according to a well-accepted estimation, "about 30 million people have a rare disease in the 25 EU countries", Background Paper on Orphan Diseases for the "WHO Report on Priority Medicines for Europe and the World" - 7 October 2004 which means that 6% to 8% of thetotal EU population are rare disease patients. This figure is equivalent to the combined populations of the Netherlands, Belgium and Luxembourg. Quoting from the Background Paper on Orphan Diseases for the "WHO Report on Priority Medicines for Europe and the World" - 7 October 2004: "Unfortunately, the epidemiological data that are available are inadequate for most rare diseases to give firm details on the number of patients with a specific rare disease. In general people with a rare disease are not registered in databases. Many rare diseases are summed up as "other endocrine and metabolic disorders" and as a consequence, with few exceptions, it is difficult to register people with a rare disease on a national or international basis, and in a reliable, harmonised way". In the case of rare cancers, many registries do not publish sufficient data that break down figures of rare tumours by type, even though this information might be available from pathological examination of tissue removed during surgery. It is worth noting that each and every one of us is, statistically speaking, a carrier of 6 to 8 genetic abnormalities, which are, usually but not always, recessive ones in their transmission. These abnormalities generally have no consequences, but if two individuals carrying the same genetic abnormality have children, these may be affected.
"Rare Diseases : Understanding this Public Health Priority" Eurordis, November 2005 - www.eurordis.org
