This year's participation continued the municipal commitment to raising awareness for rare diseases, inclusion, and promoting social consciousness. The syndrome is a rare genetic neurodevelopmental disorder associated with the alteration of the SHANK3 gene, which can cause global developmental delay, difficulties with verbal language, low muscle tone, and epilepsy.
In Portugal, it is estimated that around 60 people are diagnosed, although the actual number may be higher. The Phelan-McDermid Portugal Association (APMP) points to hundreds of people who may still lack a diagnosis, highlighting the importance of deepening knowledge about the syndrome and promoting access to genetic diagnosis.
Although there is currently no cure or specific treatment, timely diagnosis and specialized medical follow-up, complemented by multidisciplinary interventions, are fundamental to meeting individual needs and improving the quality of life for affected individuals and their families.
The “Shine Green” campaign, promoted in Portugal by APMP, mobilizes municipalities and communities in various countries by illuminating monuments and emblematic buildings in green. More than a symbolic gesture, this initiative aims to raise visibility for a frequently unknown disease, drawing attention to the needs of people with Phelan-McDermid Syndrome and their caregivers, and reinforcing the importance of inclusion and access to adequate care.
By joining this message of hope and solidarity once again, the Municipality of Coimbra contributes to more people knowing about the syndrome and to families feeling recognized and supported.
