There are more than 7,000 rare diseases, but only has about 1,000 medical and scientific knowledge

29 February: World Day for rare diseases

-the creation of centres of reference for the treatment of these pathologies, the implantation of specific training programmes and encourage research and its clinical application, priority areas for the Sociedad Española de Neurología (SEN).

– it is estimated that, in Spain, one in five people affected by rare diseases takes up to 10 years to be diagnosed.

Madrid, February 2012. Despite their low prevalence individually, it is estimated that you between 6% and 8% of the population – representing some 3 million Spaniards – suffer from some of the approximately 7,000 diseases considered rare diseases. A rare disease is all that disease that affects fewer than 5 people of every 10,000 (although the vast majority are still less prevalent) and while it’s very wide and heterogeneous set of pathologies, all of them have several aspects in common: the difficulty that imply for their diagnosis and treatment and the enormous load psychosocial posed for both patients and their families.

They are little-known diseases, many of them lack effective treatments, there are many cases of patients with diseases that have not yet been diagnosed, and although rare diseases, together, are called are one of the most frequent pathologies. Three million Spaniards confirm that we are facing a major public health problem and promote knowledge, research, treatment and diagnosis of these diseases should be a priority ”, says the DRA. Carmen streets Hernandez, Coordinator of the Committee ad-hoc of rare diseases of the Spanish society of Neurology.

65% Of rare diseases are usually serious and disabling, and many of them lethal, chronic and degenerative. 80% Of rare diseases are genetic, while the remaining 20% owes its origin to environmental factors, infectious agents, or unknown causes. In 50% of cases the onset of the disease occurs in childhood (approximately 30% of children with rare diseases die before their fifth birthday). But what is common to them all is that the quality of life of patients and their families is affected, loss of autonomy, by both the psychological impact which is faced with an incurable, in the absence of treatment, or even diagnosis disease.

The time of diagnosis is one of the main problems. It is estimated that, in Spain, one in five people affected by a rare disease it takes up to 10 years to be diagnosed ”, explains the DRA. Carmen Hernández streets. Although there are many diseases that have no cure, if diagnosed early and treated properly, in many cases it is possible to improve both the quality and the life expectancy of the patient. In other cases, an early diagnosis allows you to stop the progression of the disease. It is therefore very important to improve the diagnosis of these diseases, because put a name to a condition is vital in order to apply a therapy ”.

But for this it is necessary to promoting research into these diseases. Approximately 7,000 rare diseases that exist, only has about 1,000 medical and scientific knowledge. I.e. from those which, although rare, are more frequent. Although the diversity of symptoms with these diseases and the dispersal of patients hamper research, should not stop devoting efforts in this work. Advance in the knowledge of the real prevalence of these diseases, improving hospital care through the creation of centres of reference, bet by the introduction of specific training programmes, … would greatly help in the attainment and dissemination of scientific knowledge and would allow to establish databases that facilitate access to better diagnosis and new treatments ”, maintains the DRA. Carmen Hernández streets.

On the occasion of the celebration of the world day for rare diseases, this 29 February, the Sociedad Española de Neurología (SEN) wants revindicar the need to carry out a series of urgent measures to put an end to the uncertainty in diagnosis and improve the quality of care of patients:

-improve in early diagnosis, which will depend on the existence of centres of reference for these pathologies and equity of access to them to the patients affected.

-the creation of specific training programmes for specialists and primary medicine, basic in order to identify the problem and derive appropriate to the care specialist.

-ensuring access to medications orphans and therapies advanced for these diseases, necessary for the treatment throughout the country.

-encourage research and its application in clinic.

-the importance of empowering essential services in many of these diseases as continuing rehabilitation, Neuropsychology, speech therapy, day centres, etc.