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publicado em 28/09/2013 às 15h58:00
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Agility in diagnosis is challenging for people with rare diseases

Another important point is access to medicines. The matter was discussed at the 1st Ibero-American Congress held in Brasilia

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Agility in diagnosis and access to drugs is one of the challenges of people with rare diseases. The experts estimate is that 15 million people have rare diseases in the country. The World Health Organization (WHO) classification of rare diseases affect those who, on average, 1.3 person per group 2000. There are about 8000 kinds of rare diseases diagnosed. The genetic cause is responsible for 80% of them.

This week, experts discussed the topic in Brasilia on the 1st Ibero-American Congress on Rare Diseases. A rapid diagnosis is essential to initiate ensure quality of life for the patient, according to Rogerio Barbosa Lima, president of Maria Victoria. However, he says that are recurring instances of delay in diagnosis, mainly due to lack of information and physicians specializing in these diseases. Father of a girl with neurofibromatosis, he spent four years of the diagnosis.

Sometimes a person gets five years looking for a correct diagnosis and has people who spend ten 15 years without knowing it [with the disease] said. Rogerio Lima also cites the need for investment in research and tests to identify rare diseases.

In assessing the president of the Association of Family, Friends and Carriers Serious Illness (AFAG), Maria Cecilia Mazzariol a way to reduce the delay in diagnosis is to offer continuing education for health professionals to have access to information about illnesses . It also highlights the importance of encouraging research.

Rare diseases are chronic diseases, progressive and disabling. The drug is a way to improve quality of life of the patient. The president of AFAG account that there are few drugs produced in Brazil, and the prices are high. Justice ends up being the most common means to ensure access, she said.

SUS works with health protocols and guidelines that eventually encompassing those treatments for the diseases most prevalent and most rare diseases is neglected. Treatment for patients with rare diseases usually not available on the NHS and health plans sometimes deny. In most cases the person will have to turn to the courts to get treatment, says Maria Cecilia Mazzariol.

In February this year, the Health Ministry announced it would set up a National Policy for People with Rare Diseases in the Unified Health System (SUS) in seeking to expand and improve treatment. A public consultation was open for suggestions, and the text of the policy is in development, according to the ministry. The SUS has filed 25 treatments for rare diseases and supply medicines for these diseases 12.

In evaluating Rogerio Lima, Maria Association of Victoria, in recent years there has been little real progress in the treatment and public policy related to rare diseases. If technically speaking and make a clipping from 2010 until now, there has been much discussion but no real progress. Patients continue unattended and using the courts to ensure medication.

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rare diseases    Iberoamerican Congress on Rare Diseases    diagnosis    access to medicines    neurofibromatosis    health   
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