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.
How long do they take to be diagnosed?
As they are so unknown, rare and numerous, sometimes it takes time to diagnose a rare disease correctly. It is calculated that people who are affected wait five and a half years to receive a diagnosis. In an attempt to improve this situation, the European Union, and also Catalonia, have encouraged the creation of networks of hospitals to exchange information and speed up the diagnosis. This commitment is that in 2027 these diseases can be diagnosed in a maximum of one year.
Can they be cured?
The scientific community point out that during all the years when there is no diagnosis, the patients can't be treated properly. But even when they do have the diagnosis, in many cases no treatment is available. Most of the medicines that are used to treat rare diseases are known as orphan drugs. This is because each of these diseases affects very few people so their cost is very high and sometimes money is not available for them. In spite of the constant breakthroughs, even now 40% of rare diseases have no treatment. They cause 35% of deaths in children under one year and 50% of deaths before the age of 30. It follows that proper treatment could improve the quality and expectancy of life of patients. So, it is important to help research.
How do they affect people's lives?
Because most rare diseases are disabling they greatly affect patients' quality of life, and also that of their families. Often they are people with problems in many fields of social activity such as school, university or the world of work. For that reason it is important for patients to tell their stories and make them known, to make them visible and normalised. The associations and federations of patients and their families have a very important role. These organisations provide information, psychological and emotional support, and practical help to orientate families in the procedures for provision of services.
We're out to win!
According to the experts, great breakthroughs have been made in treating and curing many of these rare diseases. To do so, it is very important to be able to detect them at birth and start the appropriate treatment immediately. Currently all babies born in maternity hospitals in Catalonia are given a neonatal test that includes rare diseases. If the test detects any of them in the child, the medical teams proceed to start the treatment that can cure them or curb their development. In the last few years research in gene therapy has advanced greatly. This means introducing functioning genes into the cells to replace those that are functioning badly and causing the disease. There is still a long way to go but, thanks to research, the experts say that in the coming years a lot will be learned about treating and curing even more diseases.
Because every step forwards, however small it may seem, is a great victory.
And that is why La Marató 2019 is relying on you!