The Regional Ministry of Health and Consumer Affairs and Son Espases have organized the 1st Conference of the Balearic Islands Minority Diseases Strategy.

80 percent of these diseases have a genetic origin that requires a multidisciplinary approach.

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A minority disease is a serious, rare pathology and is defined as having a prevalence of 5 cases per 10,000 inhabitants. It is estimated that, in the Balearic Islands, about 8,000 people are affected by one of these diseases. Eighty percent of them have a genetic origin and present in very diverse forms, which requires a multidisciplinary approach. Most of them appear in childhood – 2 out of every 3 patients begin to show symptoms before the age of two – and most of them are chronic and degenerative diseases, which entails a high degree of disability and dependence. Thirty percent of patients affected by a rare disease will die before the age of five.

Minority diseases have a great impact on the people who suffer from them, their families and caregivers. There are a number of problems associated with these diseases such as: delayed diagnosis, the identification of professionals trained to deal with the particularities of these diseases, the absence in many cases of curative treatment, the difficult access to orphan drugs, the high cost of most of the drugs used, access to complementary benefits, the need to advance in research (currently fragmented and insufficient) and the implementation of a multidisciplinary approach in these patients.

Currently, thanks to the application of new technologies in genetic studies such as Sanger and massive sequencing (NGS: Next Generation Sequencing), there is an opportunity to shorten diagnostic delays and increase accuracy. The identification of disease-associated genes is essential to facilitate molecular diagnosis, understand the underlying pathology and contribute to the development of targeted therapeutic strategies.

The creation of the “Rare Diseases Strategy” in 2009, which is part of the “Quality Plan of the National Health System”, aims to articulate a feasible and appropriate response to people affected by a rare disease. This strategy represents the consensus between the Ministry of Health and Social Policy, the Ministry of Science and Innovation, the autonomous communities, patient associations, scientific societies and experts. This strategy -which was evaluated in 2012 and updated in 2014- includes 7 lines of action: prevention and early detection; health and social-health care; promotion of research; and training and information for professionals, affected persons and their families, among others.

The Government of the Balearic Islands constituted the Technical Committee of the Rare Diseases Strategy in 2009. It is made up of professionals from all areas involved in the care of these people and its main objective is to identify the needs and advise on the implementation of the objectives and actions included in the Strategy.

During two days, professionals and patients have participated in the I Conference of the Strategy of Minority Diseases of the Balearic Islands to try to improve deficient aspects such as, among others, the diagnostic delay, the training of professionals, the access to complementary benefits and the promotion of research.

On the one hand, patients affected by a minority disease have shared their daily life and have analyzed the shortcomings of the health system and how early care could be improved and, on the other hand, professional experts from all over Spain have shared the latest advances on some of the minority diseases.