Quão raras são as doenças raras?
Por que isso importa?
Rare diseases are not common as individual syndromes in themselves. Some of them affect only a handful of people worldwide. Others, such as Baixa Síndromes, are more prevalent and affect thousands of people. Generally, in the US, a rare disease is one which affects less than 200,000 people.
No entanto, com 7000 atualmente diagnosticado e mais sendo identificados e nomeados o tempo todo, há atualmente entre 25 e 30 milhões de americanos com uma síndromes. Isso não leva em conta aqueles que não são diagnosticados, devido a leve sintomas, diagnóstico errado e apenas falta de conhecimento sobre como pode ser uma doença genética.
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.
Prevalência
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.
Alguns são mais prevalentes em comunidades específicas ou entre etnias específicas. Isso inclui Tay-Sachs, que é mais comum em pessoas com ascendência judia Ashkenazi europeia.
As figuras
Nós dividimos abaixo -
| Doença rara | Prevalência aproximada |
| Torneiro síndromes | 1 em 2,000 |
| exclusão de 22 q11. 2 síndromes | 1 em 4-7,000 |
| Homem anjo Síndromes | 1- 12-20,000 |
| Joubert síndromes | 1 em 20,000 |
| Kabuki Síndromes | 1 em 30-80,000 |
| Nevo basocelular síndromes | 1 em 60,000 |
| Prata-russell síndromes | 1 em 100,000 |
Ainda há muito a aprender sobre as doenças raras - tanto em termos de suas causas como sintomase quanto mais aumentamos esse conhecimento e compreensão, mais capacitamos os pacientes com uma diagnóstico genéticoe o suporte certo.
