Una ILP pide un CRIBADO NEONATAL igual en toda España. Judit Ruiz cuenta su historia en COPE

Judit Ruiz is a 24-year-old woman from Valencia who suffers from glutaric aciduria type 1, a rare disease. This inherited metabolic disorder causes the accumulation of toxic metabolites in the brain, resulting in irreversible brain damage. Her situation could have been prevented with the newborn screening test, also known as heel prick test. At 15 months old, gastroenteritis triggered a crisis that led to brain damage, but when she was born, this test did not include her condition in the Valencian Community. If Judit had been born in another autonomous community, her rare disease would have been detected. "My life would be quite different," she acknowledged in an interview on Mediodía COPE. Despite everything, she believes this experience has made her "a very, very determined and persistent person." More information: https://www.cope.es/programas/mediodi...