What are rare diseases?
A disease is considered rare if fewer than 5 out of 10,000 people are affected by it.
That sounds like very few people. But: there are over 6,000 different rare diseases. Taken together, they affect millions of people.
So, it is the individual disease that is rare – not the situation of those affected.
Why are rare diseases often so challenging?
Many of these diseases:
- are genetic (meaning they are inherited or caused by a gene mutation)
- start in childhood or young adulthood
- are chronic and accompany those affected throughout their lives
- are often diagnosed late or incorrectly
- are little known, even to many doctors
As a result, those affected often experience a long journey to the correct diagnosis and feel alone with their symptoms.
Examples of rare diseases
Cystic Fibrosis
A genetic disease that primarily affects the lungs and digestion. Ehlers-Danlos Syndrome
A connective tissue disorder with hypermobile joints, pain, and many other symptoms. Gaucher Disease
A rare metabolic disorder where certain substances in the body are not broken down correctly. Niemann-Pick Disease
Also a storage disease that can affect organs and the nervous system. Fabry Disease
A genetic metabolic disorder where certain fatty substances build up in cells. It can cause pain, skin changes, and problems with the kidneys, heart, and nervous system. Progeria (Hutchinson-Gilford Syndrome)
An extremely rare genetic condition where children age very prematurely.
What many rare diseases have in common
Even though the diseases are different, many affected individuals experience similar situations:
- Long search for a diagnosis
- Little information and few specialists
- Physical and emotional burden
- The feeling of not being understood
Important to know
If you or a loved one has a rare disease:
You are not alone in these experiences. There are many other people with similar paths, challenges, and questions.