The odyssey of tackling rare diseases
‘Exceptional Forum’: how to tackle the challenge of rare diseases

Delays in diagnosis. Lack of information and early detection. Absence of treatments. And a lot of medical bureaucracy. These are just some of the stations in the viacrucis experienced by those people with some low-prevalence ailment. “There are too many European citizens who are dying prematurely from rare diseases, of which 70% are detected in childhood… the odyssey to receive a diagnosis lasts five years,” said Simone Boselli, director of Public Affairs at Eurordis, an alliance nongovernmental. To this, added the expert, we must add inequality to access therapies and a quality health system.

“Only 6% of rare diseases have an effective and authorized treatment in Europe. Very few of them are truly transformative or potentially imply a lifelong cure”, mentioned the Eurordis expert during the Forum. Exceptional ‘Rare Diseases. A challenge for all organized by EL PAÍS in collaboration with Roche Farma and which was held this Thursday in Madrid. A disease is considered rare when it affects less than five per 10,000 inhabitants, according to the Spanish Federation of Rare Diseases (Feder). “In Europe there are more than 30 million people with one of these diseases and three million of them are in Spain”, explained Stefanos Tsamousis, CEO of Roche Farma. “It is a health problem of the first magnitude, both due to its population dimension, and due to the impact on people and their families,” stressed the company representative.

“We have many challenges in health and, without a doubt, rare diseases are one of them,” said Carolina Darias, Minister of Health, at the opening of the event. The only way to deal with them, the government representative mentioned, is by joining forces and building a network in which all the members of the chain who fight against these ailments collaborate and provide information. “It is essential to network and share experiences to accumulate evidence and thus be able to advance knowledge,” she said.

The minister took advantage of the event to anticipate that the Government is working on the homogenization throughout the territory of access to genetic tests. This is a fundamental tool for the diagnosis, treatment and monitoring of rare diseases. “The goal is to reduce uncertainty and offer possibilities for the future,” she added. In addition, he recalled the continuous expansion of available therapeutic options, with a record approval of funding for orphan drugs (those intended to treat rare diseases) in 2021, when spending increased to 1,015 million euros, 15% more than a year before.

Darias also highlighted the development of the Valtermed information system, the State Registry of Rare Diseases, as well as the ImpAct program, which has made it possible to create an infrastructure geared towards precision medicine. Similarly, he recognized the progress of two new lines of research on cell and animal models that the Carlos III Health Institute (ISCIII) has launched and that will help to deal with these ailments. The minister, in the same way, emphasized the work and support given by the different patient associations and professionals, researchers who are in the first line of attack.

Inequity in care

Montse Font —a patient with spinal muscular atrophy (SMA, a group of genetic diseases that damages and kills motor neurons)— explained that in addition to how complicated the diagnosis of rare diseases is, there is also the inequality of care and access to medicines. “It is not the same attention that is received in Catalonia or Valencia. Each community establishes a protocol [de atención]”, he highlighted at the round table he shared with Álvaro Villanueva, president of the Fundación Luchadores AVA and father of a patient with tuberous sclerosis and polycystic kidney disease.

For Enrique Ruiz Escudero. Minister of Health of the Community of Madrid, networking is essential to advance, first, in the diagnosis, and second, in responding to the disease. “It is important that any patient from any autonomous community has the same accessibility to treatments or diagnoses, where appropriate,” he said at the end of the forum in which representatives of various associations such as Mencía de Lemus, former president and patron of the Foundation participated. Muscular Atrophy Spain (FundAME); Alba Ancochea, director of Feder; Mónica Povedano, head of section and coordinator of the Motoneuron Functional Unit of Hospital Bellvitge.

Among the medical professionals were present: Ana Camacho, pediatric neurologist at Hospital Universitario 12 de Octubre and president of the Spanish Society of Pediatric Neurology (SENEP); Mercedes Martínez, section chief of the Children’s Rehabilitation service at Hospital La Paz in Madrid; David Gómez Andrés, neuropediatrician specialist in neuromuscular diseases Vall d’Hebrón Research Institute and coordinator of the SENEP group of experts on neuromuscular diseases, and Ignacio Pascual. Head of the Pediatric Neurology Service at Hospital La Paz in Madrid.

Also present were Caridad Pontes, manager of the Catalan Health Service’s Medication; Jorge Aboal, General Director of Health Assistance of SERGAS, Galician Health Service; Federico Plaza, Corporate Affairs director of Roche Farma, and José Luis Poveda, coordinator of the Rare Diseases and Orphan Drugs Group of the Spanish Society of Hospital Pharmacy.

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