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Totana this weekend becomes center of reference of Rare Diseases (24/10/2014)

"Building the future, improving lives" is the motto under which participate in Totana this weekend more than four people in the VII National Congress of Rare Diseases, under which also takes place on II International Symposium and VII Lipodystrophies National Meeting of Families and Affected by a rare disease.

The Congress is organized Porla Associationof D'Genes Rare Diseases, and the Families Affected Associationof Lipodystrophies (AELIP) and delegation to Murcia dela FederaciónEspañolade Rare Diseases (FEDER).

It was inaugurated today by the government delegate in Murcia, Joaquín Bascuñana IMSERSO CEO, César Anton, the Minister of Health and Social Policy, Catherine Lawrence, Mayor of Totana, María Isabel Sánchez, and the presidents of D' Genes and AELIP, Juan Carrion and Naca Eulalia Pérez de Tudela.

In it are represented 55 patient organizations, and families of Andalusia, Madrid, Canary Islands, Galicia, Castilla Leon, CastillaLa Mancha, Extremadura, Valencia, Catalonia and Murcia.

The meeting aims to be a framework for analyzing the latest research and advances but especially also for sharing the reality of daily living people with a rare disease or their relatives.

In fact, Congress was inaugurated this morning with the testimonial table "Living with a rare disease," which was presented by the Dean of the Faculty of Social Work at the University of Murcia, Enrique Pastor.

Thus, in an affected her by Stiff Man Syndrome has had experience and wanted encouragement and hope to people who suffer from some rare disease.

Furthermore, it could also hear the testimony of a father and a mother of two children also affected by a rare disease, which have appealed to the search for solutions that contribute to improving the situation that people are faced with a rare disease .

The Mayor, María Isabel Sánchez, claimed the need to promote the spirit born as both D'Genes AELIP;

to continue moving forward together and support all actions to secure the work permit and collected the remaining goals to be achieved.

He advocated that the associations that germinated in Totana some years in the hands of volunteers, with the assistance of the City now, must be the way to go for the network will expand increasingly to the whole society, under the invaluable involvement of all government and private entities.

He cited as "best example" of achieving goals and achievements, represents the work of many volunteers and so many anonymous people that what is now a reality in Totana: Center regional reference in the Multidisciplinary Care for People with Rare Diseases "Celia Pérez Carrión de Tudela".

In addition, the Minister of Health and Social Policy, Catherine Lorenzo, showed his support for people who have a rare disease and their families during the course of the opening ceremony of the VII National Congress of Rare Diseases, held until Sunday, 26 October, in the town of Totana.

In the region, according to the latest data by the Information System for Rare Diseases (SIER), under the Directorate General of Social and Health Planning, Pharmacy and Citizen, last year recorded 54,370 affected by a rare disease.

That is, 3.7 percent of the population of the autonomous region suffers a rare disease.

Each year, Lorenzo said, "about 4,000 new cases are diagnosed and today, extrapolating European data, there are about 85,000 Murcia diagnosed with a disease of this kind."

He added, "are diseases that affect a small number of people, are largely unknown, and this is precisely what encourages us not neglect the investigation."

80 percent of rare diseases are genetic so, in this sense, "is fundamental" the task performed by the professionals of the Center of Biochemistry and Clinical Genetics (CBGC) for the detection, diagnosis, prevention and research in the fields of Cytogenetics, Molecular Genetics and Metabolic Disorders.

During 2013, in the CBGC nearly 22,000 patients were served through these programs and also in the Department of Pediatrics of the University Hospital Virgen de la Arrixaca Health Area I-Murcia West, which has specific resources for patients with diseases Rare, 5,423 follow-up visits and treatment were made.

The Minister stressed that since last year the Autonomous Community has two Centres, Services and Reference Units (CSUR) accredited by the Ministry of Health, Social Services and Equality pathologies considered as rare diseases.

These CSUR, located in the University Hospital Virgen de la Arrixaca, attended in 2013 a total of 311 new patients.

Of these, 243 in the CSUR Family Heart Disease and Hypertrophic Cardiomyopathy and 68 in the CSUR Multiple Sclerosis.

Lorenzo also referred to "the importance of orphan drugs to treat or alleviate the effects of the disease and to help improve the quality of life of these patients."

Specifically, in 2013, nearly 16 million euros for the purchase or funding of these drugs were destined.

Care coordination and research

The Ministry of Health and Social Policy, through the Directorate General of geriatric Planning, Pharmacy and Citizen and Murciano Health Service (SMS) provides a model of geriatric care of rare diseases with a mandate to encourage coordinated strategy between the different administrations and professionals.

The health official noted the contribution of professionals Murciano Institute for Social Action (IMAS) to harmonize procedures for assessing disability in order to expedite the process of valuation.

Lorenzo said the joint and coordinated work between government, professional associations and is an "indispensable tool" to advance and identify the main needs of patients and their families.

The regional government, as the minister pointed out, is also promoting research oriented information about Rare Disease so, right now, there are several initiatives underway.

Living space

For his part, President of D'Genes, Juan Carrion, has emphasized that this annual event involves mainly create a living space in which they are represented professionals affected by a rare disease and family.

He also claimed that rare diseases should be a social and health priority and that should be expressed in concrete actions.

Also, Carrión has insisted claims of this group as access equity to ensure drug of vital use to exempt pharmaceutical copayment for families with rare diseases or rare diseases are considered chronic and priority interest in the National Health System.

Carrión has highlighted that the meeting's theme this year is to influence "the importance of continuing to train future because thereby contribute to improving the quality of life of those affected."

For his part, the president of AELIP, Naca Pérez de Tudela, insisted in his speech the importance of research and ensure that resources are coordinated.

It has also highlighted the participation pride available to the Congress and pointed out that it is open to suggestions because the intention is to follow in successive editions.

The inauguration was also attended by the Mayor of Totana, María Isabel Sánchez;

the government delegate in Murcia, Joaquín Peñarrubia;

the Minister of Health, Catalina Lorenzo;

and CEO IMSERSO Cesar Beltran Anton.

Lectures and panel discussions

This morning has been treated, among other things, the Information System on Rare Diseases in the Region of Murcia (SIER), the value of orphan and ultra-orphan or update in the diagnosis and treatment of mucopolysaccharidosis drugs.

It has also addressed the fundraising low cost, a new form of fundraising.

This afternoon will discuss pharmacological treatment of chronic pain, impact of newborn screening programs in inborn errors of metabolism or tuberous sclerosis, neuromuscular diseases, and heavy metals in the mouth and its possible consequences in rare diseases.

Similarly, out are going to take two round tables to discuss Acute Intermittent Porphyria (PAI) and Adipose Tissue and the Nervous System.

Saturday morning will discuss among other issues the "Addressing feeding difficulties," the "Care Pediatric Palliative home care, quality care" and will hold a roundtable on "Rare Diseases in the media. Report 2014 ".

Afternoon topics such as "Latest contributions therapeutic treatment of disorders of the development of children with rare diseases", "family and Fabry Cardiomyopathy", "Surviving the Idiopathic Pulmonary Fibrosis" and "Keys to be addressed autonomy of people with rare diseases. "

Rare diseases are those that have a low incidence in the population, particularly affecting less than 5 per 10,000 inhabitants.

In Spain it is estimated that there are about 3 million people with rare diseases, while in the Murcia region would be affected more than 85,000.

Source: Ayuntamiento de Totana

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