Trajetórias Terapêuticas Familiares: doenças raras hereditárias como sofrimento de longa duração

Da busca pelo diagnóstico às incertezas do tratamento: desafios do cuidado para as doenças genéticas raras no Brasil

“…In the scenario of rare genetic diseases, this care is not only directed to a specific individual but the family as a whole in their projects of existence and reproduction 4 . In the face of the diagnosis of a rare hereditary disease, several people will be included in the investigation, such as siblings, cousins, nephews, for example.…”

“…Also, the duration and consequences of a rare disease usually require extensive care involving other family members, especially mothers. Unlike the diagnosis of other diseases, the diagnosis of rare hereditary disease traverses several bodies, either through the genetic component that has been (or can be) transmitted or inherited, and which cannot be controlled or altered by the actions of the subject, or the debilitating physical conditions that will require the care of others until the end of the patient's life 4 .…”

“…In Brazil there are an estimated between 13 and 15 million people with a rare disease. 4 With declining mortality from other causes due to improved maternal and child health in the last decades, rare diseases have become the second cause of child mortality 5 .…”

“…Most rare diseases have no effective treatment. It is estimated that only 10% of them have some specific drug treatment that often incurs a very high cost 4 .…”

“…In 2014, the National Policy for the Comprehensive Care of People with Rare Diseases (PNA-IPDR) 9 was implemented aiming to incorporate rare genetic diseases into the SUS, with the goal of integrating genetic services into primary care and with regional reference centers. The PNAIP-DR provided, in theory, the basis for the establishment of reference centers that would receive funding for genetic testing, an expanded list of drug supply and the provision of genetic counseling 4 .…”