Rare diseases: where does inclusivity fit in this scene?
The search for new solutions was highlighted at the event promoted by Casa Hunter.
That reaches 65 people for every 100 thousand. This is the condition that the World Health Organization (WHO) establishes for a disease to be classified as a rare disease. Only in Brazil, it is estimated that there are 13 million people with some type of diagnosis. To expand what is known about these pathologies, Casa Hunter organized the fifth edition of the event “Rare Diseases Scene in Brazil”, held on March 5 at the WTC Theater, in São Paulo.
A non-profit organization that promotes care and treatment to family members and patients with rare diseases, Casa Hunter has been serving since 2013, in this scene that affects 6% of the Brazilian population: in the data we have about diseases, they have 6 to 8 thousand types, 75% are manifested in children and 80% are of genetic or hereditary origin. Currently, there are only 150 specialized geneticists in the country for this treatment. Within the institution, approximately 700 patients are treated every month, as defined by the founder, Antoine Daher.
To discuss innovations, possibilities and barriers, the more than 8 hours of event brought together professionals involved in research, control and surveillance of medicines, representatives of regulatory agencies, the pharmaceutical industry, patient associations and health professionals, in addition to of those involved in politics and law. Online, Samanta Bullock also joined forces with the cause: under the eyes of inclusivity, she declared her support for the project and its achievements.
Inclusivity, people with disabilities and rare diseases. Is there any kind of connection? Because they are generally degenerative and progressive, many rare pathologies cause or are directly linked to the part of the population that has some type of disability. For these, for example, the topic of attention to caregivers was discussed, thinking about the impacts of life quality, economy and society for those who are responsible for maintaining care in the patient’s disabilities.
In the scene of those who have a rare disease, 30% of patients die before they are five years old. One of the solutions sought by Casa Hunter is the development of gene therapy, which is still being built in research, new technologies and experiments. To accompany the process, the event brought up the discussion of innovative therapies, explained the clinical research of scene in Brazil, the incorporation of new technologies to the process, as well as the access, barriers and new challenges that arise during these researches.
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Tudo pronto por aqui! Em instantes começa a 5ª edição do "Cenário das Doenças Raras no Brasil", em que reuniremos interessados na questão dos 13 milhões de raros para debater os desafios e conquistas, novas metodologias, tratamentos e tudo mais que mobilize a nossa comunidade. Aguardem mais informações! #casahunter #doencasraras
It is necessary to understand what is in this new scene, to raise awareness about the tools available and, exactly how it was done, to gather the efforts of those who play key roles in order to achieve different results, more advanced genetic research, more accurate and quickly diagnoses, in addition to the concern to humanize the looks towards rare people: it is necessary to discuss their rights, life quality, society inclusion and the support offered, which also extends to the support network, formed mostly by whole families who need to understand a new reality structure – and it takes, even with better prospects for evolution, on average between seven to ten years to receive the correct diagnosis and the appropriate treatment.
Text by Larissa Mariano