First Data from the Rare Disease Database Presented

Croatian Alliance for Rare Diseases held a press conference on the „Universal health coveradge day”,to present the first quantitative data on rare diseases, based on a sample of 860 individuals. These data provide insight into the sociodemographic characteristics and health and social profiles of people living with rare diseases, as well as their access to rights within the healthcare and social systems. The goal is for this information to serve as a foundation for necessary improvements in providing comprehensive care.

Structure and Function of the DatabaseThe database consists of 57 predefined questions, enabling the extraction and correlation of various statistical parameters. This software allows for quick and accurate information retrieval, with questions and predefined answers aligned with current healthcare and social system methodologies.

According to the initial data, the most critical areas requiring action are finding solutions for the high percentage of unemployed individuals with rare diseases and conducting a further analysis of the employment status of parents of children with rare diseases. Regarding children, the emphasis is on the importance of investing in specialized education, as half of the children with rare diseases of preschool and school age are unable to attend regular educational institutions.

It is necessary to further investigate why a large number of rare disease patients incur regular expenses for pharmacological therapy, medical services, and assistive devices despite their diagnoses. Since there is no cure for most rare diseases, these treatments remain the only means of managing the condition and preventing further progression. Therefore, finding solutions to ensure adequate care for rare disease patients is essential.

The Rare Disease Database has both operational and strategic value. In the operational work of the Alliance, the database will enable efficient use of large volumes of data. In daily practice, inquiries about rare diseases frequently come from healthcare professionals, social workers, students, local and national institutions, patient organizations from Croatia and abroad, business partners, academics, the media, and patients themselves. These inquiries are most often related to quantitative data, which will now be easily searchable based on specific needs.

The Rare Disease Database represents a crucial first step, not only in the systematization of data but also as a comprehensive analysis of the rare disease landscape, which has not existed until now. This analysis is expected to become a key tool for planning and preparing a new National Rare Disease Program and making policy decisions regarding the organization of healthcare and social protection for those affected. The current National Rare Disease Program (2015–2020) was developed based on European guidelines and recommendations, without an in-depth analysis of the situation in Croatia. Many of its set indicators were not achieved, highlighting the need for a new program. A new National Rare Disease Program is expected to be developed, and the Rare Disease Database will play a central role in analyzing the current situation. This data will be further refined in collaboration with institutional representatives to address newly identified needs. Beyond supporting the new national program, the database will also be valuable in identifying needs for European project applications, helping secure additional resources for rare disease care.