posted on 06/21/2022 16:17 / updated on 06/21/2022 16:40
In Brazil, rare diseases affect about 13 million people, according to estimates by the World Health Organization (WHO). According to Carmela Grindler, coordinator of the Neonatal Screening program at the São Paulo State Health Department (SES/SP), the heel prick test is essential for the detection of these diseases.
“The heel prick test is not an exam, the heel prick test is a public assistance program”, he said. She participated, in a virtual way, this Tuesday (21/6), in the CB.Forum “Expanding the foot test: a fundamental step for the early diagnosis of rare diseases”, event held by the Brazilian Mail which brings together specialists to discuss the scope of the exam and the need to expand testing as soon as possible.
According to the specialist, “the test is essential because, in the vast majority, they are genetic diseases, congenital diseases, complex diseases, diseases that do not have a curative treatment. However, there is a set of actions, including drug interventions, that can give these people full inclusion,” she explained in the debate.
Also according to Carmela Grindler, the implementation of increasing the range of the heel prick test should take place in five stages, but only in the last one will it be applied for the detection of SMA. “There are five implementation steps. We already have six diseases, they will be part of this sequential package to these six diseases. In total there will be 51 diseases,” she highlighted.
To encourage early diagnosis, a year ago a law was enacted that expands the number of diseases that can be diagnosed through neonatal screening in the country — the famous foot test — from six to 50. The new test is in effect since the 26th of May. In practice, however, there is still much to be done in the fight against these clinical conditions.
Also present at the table were the president of Casa Hunter, Antoine Souheil Daher; neurologist and professor at the University of São Paulo (USP) Edmar Zanotelli; and Suhellen Oliveira, mother of two SMA patients.