Community 🇪🇸 Mentions KS

Spain: María Vanesa is ill and still undiagnosed after years of medical appointments

person Cinthya Martínez, La Voz de la Salud / La Voz de Galicia

calendar_today Sep 6, 2026

Spanish news article about María Vanesa’s years-long diagnostic odyssey and the impact of living with serious symptoms without a diagnosis. It explains rare-disease diagnostic pathways in Galicia and Spain UDP, including phenotype coding, exome/genome testing and international data sharing. Kleefstra syndrome and EHMT1 are mentioned as an example from program work.