What are they and how do they affect the Portuguese?

It is estimated that there are 30 million people with a rare disease in Europe. Learn more about these uncommon pathologies.

Sometimes we hear about rare deseaseswhether on television, in Internet or in conversation with colleagues.

But, after all, what are rare diseases and what do they consist of? We have the answer for you in this article.

Rare diseases: essential guide

What are

These are diseases that occur infrequently or even rarely in the population. That is, they are diseases that affect a restricted number of people, having the general population as a base.

It is estimated that there are between five and eight thousand rare diseases in the European Union totally different and that affect (together) about 6% to 8% of the population – according to EURORDIS-Rare Diseases Europe, in Europe there are 30 million people with some rare disease. In Portugal there will be between 600 and 800 thousand people affected.

The reality of this type of disease means that people who have them and who live with them have unfavorable consequences both medically and socially.

That is, at a medical level, few studies have yet been carried out that are able to understand this type of disease. This fact can be decisive for the lives of patients at risk.

At a social level, these diseases are little studied by doctors because they are not so common, which can often make it difficult to access some treatments and even medications.

Because they are drugs used in very few patients, access to them can often be quite complicated (since they are not so lucrative).

The so-called rare diseases can, in most cases, be characterized by:

• serious chronic diseases, degenerative and which usually put the person’s life at risk;
• diseases in which the levels of suffering and pain of the affected persons and their families are high;
• disabling diseases, in which the quality of life is compromised as a response to the lack of autonomy;
• diseases for which there is still no cure, but for which there are treatments that can improve symptoms (also improving quality of life and increasing life expectancy).

So that there are no doubts about what rare diseases are, most of them (80%) have an identified genetic origin.

The other rare diseases are the result of infections by bacteria or viruses and allergies, or are due to degenerative causes that propagate.

What are rare diseases

According to the Portuguese Alliance of Rare Disease Associationsa rare disease affects at most one in every two thousand people, although there are at least six thousand diseases already described.

As you can see, there are countless rare diseases that exist. However, we leave a list with just a few so that you get to know some names:

• Hemophilia A and B;
• Thoracic kyphoscoliosis;
• Dermatomyositis;
• Pulmonary arterial hypertension associated with connective tissue diseases, congenital heart disease, HIV infection or sickle cell anemia;
• Metabolic myopathies;
• disease of factory;
• disease of Gaucher;
• disease of Schindler;
• Cystic fibrosis;
• Sensory-motor neuropathies;
• Polymyositis:
• Among others.

Panorama in Portugal

In 2015, like many other countries, Portugal started to have a world day for rare diseases – the last day of February.

As we have seen, estimates point to the existence of up to 800,000 people with rare diseases in Portugal. This number reflects the need for public investment in health for rare diseases, strategies that have been reviewed and optimized since 2015 in our country.

There is one Integrated Strategy for Rare Diseases and, according to the Directorate General for Health (DGS), its objective is to ensure that people with a rare disease have better access, quality of health care and treatment, based on the evidence that science has been gathering. to produce.

Strategic priorities in this regard include care coordination, access to early diagnosis, access to treatment, clinical and epidemiological information, research and social inclusion.

It is a fact that Portugal is still little prepared to deal with these diseases, however there are associations that are constantly working on the investigation of new therapies, as well as doctors committed to the study of some of the diseases.

In addition, according to Infarmed, investment in drugs for the treatment of some rare diseases has been increasing in recent years.

It is also important to point out that in Portugal there is a rare disease cardcreated by the National Health System (SNS).

This card ensures that people with a rare disease, in an emergency, present the card to health professionals and that, in this way, it is possible to have access to all the user’s information as well as the state of their illness. This is the only way to provide the best possible care to the patient in emergency situations.

If you have a rare disease, you should know that Orphanet is the portal for rare diseases and orphan drugs. In other words, through this portal you can search for the type of disease in question and automatically have access to a whole list of symptoms and signs and indications of what you should do in emergency situations.

All emergencies described on the portal are written and reviewed by professionals so that there is no margin for any type of error.

Therefore, now that you are properly informed on this topic, you already know the means available to ensure the well-being and health of the patient with a rare disease in Portugal.