À quel point les maladies rares sont-elles rares ?
Pourquoi est-ce important?
Rare diseases are not common as individual syndromes in themselves. Some of them affect only a handful of people worldwide. Others, such as Vers le bas Syndrome, are more prevalent and affect thousands of people. Generally, in the US, a rare disease is one which affects less than 200,000 people.
Cependant, avec 7000 actuellement diagnostiqués, et plus étant identifiés et nommés tout le temps, il y a actuellement entre 25 et 30 millions d'Américains avec un syndrome. Cela ne tient pas compte de ceux qui ne sont pas diagnostiqués, en raison d'une légère symptômes, un diagnostic erroné et simplement un manque de conscience de ce à quoi pourrait ressembler une maladie génétique.
They may be uncommon, as patients of individual conditions, but collectively rare disease patients are not a small amount of people.
Often they are also called orphan diseases, or a zebra disease. This is because there is a lack of research into their causes and symptoms, and not much is generally understood about them. This can make them difficult to diagnose, and leave many patients stranded in what is known as a diagnostic odyssey.
But the more we understand about them, the more accurately we can diagnose them, and the more we understand about rare disease causes, the more we can empower individuals and families when it comes to their genetic health.
Greater rare disease awareness means ensuring that patients get the support and possible treatment they need, faster.
Prévalence
Many rare diseases are prevalent in less than 1 in 1 million people. Examples of these include Kleefstra syndrome, LEOPARD syndrome, and Witteveen-Kolk syndrome.
Sometimes the exact prevalence is unknown, as many people are undiagnosed or wrongly diagnosed, a common issue when it comes to genetic diagnosis. Ehlers Danlos syndrome, and the 13 known types of it, is one example of a condition that is commonly misdiagnosed, and for which it is believed there are possibly large numbers of undiagnosed affected individuals.
For some diseases, even an approximate estimation of their prevalence is as yet unknown. Syndromes with currently unknown prevalence include Warburg Micro syndrome, Urofacial syndrome, Temple syndrome, and Adams-Oliver syndrome.
Certains sont plus répandus dans des communautés spécifiques ou parmi des ethnies spécifiques. Cela inclut Tay-Sachs, qui est plus fréquent chez les personnes d'ascendance juive ashkénaze européenne.
Les figures
Nous le décomposons ci-dessous -
| Maladie rare | Prévalence approximative |
| Tourneur | 1 dans 2,000 |
| 22q11.2 suppression syndrome | 1 dans 4-7,000 |
| Homme-ange Syndrome | 1- 12-20,000 |
| Joubert | 1 dans 20,000 |
| Kabuki Syndrome | 1 dans 30-80,000 |
| Naevus basocellulaire syndrome | 1 dans 60,000 |
| Argent-Russell syndrome | 1 dans 100,000 |
Il y a encore beaucoup à apprendre sur les maladies rares, tant du point de vue de leurs causes que symptômes, et plus nous améliorons ces connaissances et cette compréhension, plus nous donnons aux patients un diagnóstico genético, et le bon support.
