Every February 28 or 29, World Rare Disease Day is celebrated, an initiative that aims to raise awareness about rare diseases in order to improve access to diagnosis and treatment and achieve a better quality of life among those who suffer from them. Here are some frequently asked questions about the most important concepts, their current situation and the main complaints that affected individuals and families continue to have.
Between 2018 and 2020, a pilot programme conducted neonatal genetic screening of children born in Australia for spinal muscular atrophy, allowing treatment to begin early. A study just published in The Lancet Child & Adolescent Health looks at their condition at two years of age and concludes that they had better movement ability, including the ability to walk, compared to children diagnosed once they develop symptoms. According to the authors, the findings justify further implementation of neonatal screening for the disease.
A team of researchers from the Health Institute Carlos III has published an article quantifying the diagnostic delay of rare diseases in Spain with data from the period 1960-2021. The study reveals that more than half of the patients experienced a delay in diagnosis, that the average delay exceeds six years, and that both the percentage of those affected by the delay and the average time have decreased over the years.