RARE DISEASES

Deafblindness can be caused by about 80 different conditions: illnesses, problems during pregnancy or childbirth, accidents and so on. However, 61 of these are rare diseases.

The term rare disease has been adopted to refer to the fact that they are diseases that occur very infrequently, affecting a minority number of people. It mainly refers to the fact that they are diagnosed in a very small percentage of the population.

Going back to rare (or minority) diseases, they are those that have a low prevalence in the population. We are talking about less than 5 cases per 10,000 inhabitants.

Although it may seem very low, if we add up all the cases, it can result in a large number of people. In total, it is estimated that there are more than 3 million people with rare diseases in Spain.

Rare disease diagnoses can be long and exhausting for families, as they often require countless medical visits, medical referrals, tests, surgeries, etc., until the correct diagnosis is made. In the process, families can be overwhelmed and disoriented by the avalanche of information about the new situation.

In this context of long and complicated medical diagnoses, the detection of disability can be delayed or pushed aside. This is a situation that should be avoided because it delays the possibility to start working on new skills. As soon as possible, families should seek specialised professional help who can carry out a functional assessment.

The aim of this assessment is early detection. In other words, we want to know if, as a consequence of the disease, there is a specific disability, such as deafblindness.