Between 28 February and 1 March every year, attention is drawn to these serious diseases, their understanding, diagnosis and treatment, since 29 February is Rare Disease Day.
A disease is defined as a rare disease if it affects fewer than 1 in 2,000 people. Since 1968, the Austrian newborn screening programme at the Medical University of Vienna, Department of Pediatrics and Adolescent Medicine, has included screening for serious congenital diseases that can be successfully treated, if detected early. Currently, tests are run for 28 rare metabolic and hormonal diseases.
It is also technically possible to screen for serious congenital immunodeficiencies and for spinal muscle atrophy promptly after birth, as is currently already done in many countries. This newborn screening allows affected children to receive successful, sometimes curative, treatment at an early stage, thereby saving them from suffering serious, life-threatening illness. "Our aim must be to extend newborn screening to serious congenital immunodeficiencies and to spinal muscular atrophy for Austrian children and to fund this initiative," says Elisabeth Förster-Waldl, Head of Clinical Immunology at the Division of Neonatology, Intensive Care Medicine and Neuropediatrics at MedUni Vienna's Department of Pediatrics and Adolescent Medicine and Comprehensive Center for Pediatrics.