Brazil's expanded "little foot test" for rare diseases lags in implementation

Five years after a federal law mandated an expansion of Brazil's "little foot test" (teste do pezinho) to screen for up to 50 rare diseases, most states have yet to fully implement the comprehensive version. This expanded screening, conducted on a small blood sample from newborns, is crucial for early detection and treatment of conditions that can cause severe disabilities. The University Federal of Minas Gerais's laboratory investigates these rare diseases, receiving samples from health posts across the state. The Ministry of Health has set a deadline of 2030 for full compliance with the law, which was divided into five implementation stages starting in 2022. José Nélio Januário, director of Nupad at UFMG, emphasizes that delaying diagnosis and treatment for these diseases can lead to irreversible sequelae, highlighting the critical need for prompt intervention. Beyond saving lives and preventing disabilities, the expanded test also offers significant economic benefits to the public health system. For instance, early treatment of congenital toxoplasmosis, a condition that can cause blindness and developmental delays, is estimated to save the country nearly R$10 million annually. Rodrigo Arantes, a medical geneticist at UFMG, explains that patients with untreated rare diseases incur higher lifetime healthcare costs due to the need for lifelong monitoring, multiple specialists, and rehabilitation compared to those diagnosed and treated early. The story of Lucas, diagnosed with spinal muscular atrophy through the expanded test at a rural health post in Minas Gerais and beginning treatment before one month of age, exemplifies the life-saving potential of this initiative, with his mother, Vivian Aguiar, crediting the test with saving his life and ensuring his proper development.