How Rare Are Rare Diseases? Learn More

Warum es wichtig ist?

Rare diseases are not common as individual syndromes in themselves. Some of them affect only a handful of people worldwide. Others, such as Down Syndrom, are more prevalent and affect thousands of people. Generally, in the US, a rare disease is one which affects less than 200,000 people.

Da jedoch derzeit 7000 diagnostiziert und ständig mehr identifiziert und benannt werden, gibt es derzeit zwischen 25 und 30 Millionen Amerikaner mit einer genetischen syndrom. Dies gilt nicht für diejenigen, die aufgrund einer leichten Erkrankung nicht diagnostiziert werden symptome, falsche Diagnose und einfach mangelndes Bewusstsein dafür, wie eine genetische Krankheit aussehen könnte.

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.

Häufigkeit

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.

Einige sind in bestimmten Gemeinschaften oder unter bestimmten Ethnien verbreiteter. Dazu gehört auch Tay-Sachs, der bei Menschen mit europäischen aschkenasischen jüdischen Vorfahren häufiger vorkommt.

Die Figuren

Wir brechen es unten auf –

Seltene Krankheit	Ungefähre Prävalenz
Dreher syndrom	1 in 2,000
22q11.2 deletion Syndrom	1 in 4-7,000
Angelman syndrome	1- 12-20,000
Joubert syndrom	1 in 20,000
Kabuki Syndrom	1 in 30-80,000
Basalzellnävus syndrom	1 in 60,000
Silber-Russell syndrom	1 in 100,000

Über seltene Krankheiten gibt es noch viel zu lernen – sowohl hinsichtlich ihrer Ursachen als auch symptome, und je mehr wir dieses Wissen und Verständnis erweitern, desto mehr befähigen wir Patienten mit einer genauen genetische diagnostik, und die richtige Unterstützung.