Specialist Centre

Rare Diseases Support Desk

The Rare Diseases Support Desk (RDSD) serves as an orientation service within the Regional and National Network for Rare Diseases, offering assessment, care, and support for individuals diagnosed with or suspected of having rare diseases, as well as their families.
For rare diseases where Casa Sollievo della Sofferenza is recognized as a referral center, patients are managed by a dedicated team and guided throughout their diagnostic and therapeutic journey, receiving specialized consultations and targeted diagnostic investigations.

Activities

The RDSD facilitates access to outpatient services within Casa Sollievo della Sofferenza. These services are delivered by specialized staff for individuals affected by or suspected of having rare diseases. The clinical focus is primarily on rare diseases for which Casa Sollievo della Sofferenza is recognized as a referral center.
Within the RDSD, these diseases are grouped into homogeneous categories of rare conditions, inspired by the European Reference Networks framework. Each group is overseen by one or more case managers, who take charge of the patient during the initial consultation, prescribe the necessary tests to confirm or exclude a diagnosis, and, in the case of a confirmed diagnosis, provide ongoing medical management in the medium and long term (within the available resources).
The RDSD also seeks to:
Direct patients with rare diseases, for which Casa Sollievo della Sofferenza is not a regional referral center, to the appropriate regional hospital facilities, in collaboration with the Inter-Company Center for Rare Diseases of the Puglia Region.

-Facilitate the transition from pediatric to adult care, ensuring continuity between pediatric and adult case managers.
-Promote continuity of care by fostering integration with local healthcare services.
-Support the development of dedicated diagnostic-therapeutic care pathways for rare diseases or prevalent groups of rare diseases.
-Provide representation opportunities and dedicated spaces for interested Patient Associations.