The World Rare Disease Day: Building a comprehensive and participatory model

The Auditorium of Parc Taulí hosted the World Day for Rare Diseases: Building a comprehensive and participatory model. This second edition focused on the importance of diagnosis during childhood and its impact on the comprehensive management of patients with rare genetic diseases.

The president of Parc Taulí, Dolors Costa, opened the day by highlighting the specialized care and firm commitment of Parc Taulí to innovation and the care of people. Costa recalled that “since 2015 we have been pioneers and leaders in Catalonia in minority diseases”, when the first Clinical Expertise Unit (UEC) accreditation was received.

During his speech, he thanked Dr. Pepi Rivera for her work and dedication as coordinator of the Rare Diseases Unit, who will now pass the baton to Dr. Víctor Martínez, director of the Genomics Center, who will open new avenues for studying minority diseases with a genetic basis.

The opening act of the day was closed by Dra. Maria Antònia Poca, coordinator of the Pediatric Neurosurgery Unit at the Vall d'Hebron Hospital and clinical specialist and advisor to the Spanish Federation of Chiary Malformation and Associated Pathologies (FEMACPA) and Carles Galbas, president of FEMACPA.

During the day, the common and differential characteristics of rare diseases with a genetic basis were made known, emphasizing the importance of clinical genetics and advice on these diseases. Along these lines, the commitment of Parc Taulí to the well-being of patients and their families was highlighted, offering early diagnosis and a transition of the patient from pediatric age to adulthood with guarantees. As well as good coordination with primary care.

The collaborative work of patient associations to improve their early access to specialized medical services has also been given visibility. At this point, relatives of patients have intervened and have claimed the importance of emotional support for the patient and their relatives/carers.

The 2nd World Rare Disease Day Conference was a success, with great attendance from professionals, family members and patients.