RARE Disease Day special edition

https://editions.rarerevolutionmagazine.com/html5/reader/production/default.aspx?pubname=&edid=b226070d-f1dd-4177-bfbc-65a7f9ba2588&pnum=29 Rett syndrome is often framed as a staged, progressive disorder, yet paediatric neurologist Dr Elena González-Alguacil sees something more complex: a non-degenerative but constantly evolving neurodevelopmental “puzzle”, where new symptom clusters emerge and interact across the lifespan. From coordinating a multidisciplinary clinic in Madrid to refining Rett-specific outcome measures and leading research on epilepsy, sleep and comorbidities, she is helping clinicians and families navigate prognosis, measurement and meaningful change in an era of growing possibility. Read