Every year, a new disease
One of the characteristics of this NGO is that every year works to raise funds to further research on a different disease. This year, for example, was able to raise more than 9 million euros to eradicate rare diseases.
What are rare diseases?
They are diseases that affect at most five people in 10,000. These diseases vary greatly in their nature but all of them are serious, chronic, progressive and disabling.
How many people are affected?
The fact that each one of these diseases affects very few people doesn’t mean that they aren’t very widespread. The experts reckon that, taken as a whole, rare diseases could affect 7% of the general population. So it is estimated that there are currently around 400,000 people who have one of these diseases in Catalonia, 3 million in Spain and more than 30 million in all of Europe.
What diseases are they?
Some 7.000 have now been described and they can affect the health of the people who suffer from them in very different ways such as mobility, the nervous or immune system, metabolism or hormonal balance among others.
For example: Morquio syndrome is a genetic condition that causes a deficiency in growth and malformations in the thorax and legs. The symptoms normally appear in children aged about two years, although the disease is present from birth. It is a serious and progressive disease that hinders patients’ mobility and which has at present no treatment. However, several very hopeful trials are taking place. Another example is giant congenital melanocytic nevus, a skin disease that causes large birthmarks and that predisposes the sufferer to cancer or neuronal conditions. It has no cure.
Another is cystic fibrosis. This causes mucosity to build up in many organs of the body such as the liver and lungs, causing respiratory infections and difficulties. It is a very serious disease and at present it is incurable, but the multidisciplinary advances of recent years have greatly improved patients’ quality of life.
Many of these diseases are identified and diagnosed in childhood, but their incidence is shared 50% in children and 50% in adults.
What is their origin?
Most rare diseases, approximately 80%, are genetic. This means that the ultimate cause is an alteration of a gene, which is normally inherited from the parents. Thus, many are also hereditary.
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