Canary Islands Makes Strides in Healthcare for Rare Diseases

The Canary Islands has made significant advancements in healthcare for rare diseases, positively impacting thousands of individuals and their families. These developments are part of a broader initiative to enhance the quality of care and support for those affected by these often-overlooked conditions.

Advancements Explained

Rita Tristancho, the Director General for Patients and Chronic Conditions at the Canary Islands Health Service (SCS), elaborated on these advancements during a recent conference organized by the Spanish Federation of Rare Diseases (FEDER). The event took place at the Insular University Hospital of Gran Canaria, where healthcare professionals, policymakers, and advocates gathered to discuss the pressing needs of patients with rare diseases.

Tristancho emphasized the importance of creating a healthcare system that is not only responsive but also sensitive to the unique challenges faced by patients with rare diseases. The conference served as a platform to highlight the ongoing efforts to improve healthcare delivery and ensure that patients receive timely and effective treatment.

Over 82,000 Cases

During her address, Tristancho revealed a staggering statistic: over 82,000 individuals have been diagnosed with a rare disease in the Canary Islands. This figure underscores the urgent need for a comprehensive strategy to address the complexities associated with rare diseases. The regional strategy aims to create a “more sensitive, agile, and coordinated” system for patients and their families, ensuring that they receive the care and support they need throughout their healthcare journey.

The strategy is designed to tackle the multifaceted challenges that arise in the diagnosis and treatment of rare diseases, which often require specialized knowledge and resources. By focusing on coordination and sensitivity, the Canary Islands aims to set a benchmark for other regions in Spain and beyond.

Key Objectives

The strategy outlines several key objectives that are crucial for improving the overall healthcare experience for patients with rare diseases:

• Ensure equitable care across the region, regardless of the patient’s location.
• Reduce diagnosis times, which can often take years due to the complexity of rare diseases.
• Promote access to innovative treatments that can significantly improve patient outcomes.
• Provide support from the outset, ensuring that patients and their families are informed and empowered throughout their healthcare journey.

Registry and Committee Development

One significant measure already implemented is the Autonomous Registry of Rare Diseases, which plays a vital role in collecting and sharing data on rare diseases. This registry shares data annually with the Ministry of Health, facilitating better understanding and management of these conditions at a national level. Furthermore, efforts are underway to establish the Autonomous Committee, which will coordinate healthcare activities and manage the two reference units dedicated to rare diseases in the archipelago.

These reference units, located in Gran Canaria and Tenerife, consist of multidisciplinary teams that include medical professionals, nursing staff, social workers, and administrative personnel. This collaborative approach serves as a bridge between primary care, hospital services, and community resources, ensuring that patients receive comprehensive care tailored to their specific needs.

Expanded Newborn Screening

Another notable initiative is the expansion of the Neonatal Screening Programme, which allows for the early detection of serious diseases in newborns. In 2021, the program analyzed eight conditions; today, it screens for 18 different conditions. This expansion has enabled over 13,000 samples to be examined in 2024 alone, resulting in 64 confirmed positive cases and over 800 relevant findings. This proactive approach positions the Canary Islands ahead of the common portfolio of the National Health System regarding the number of conditions screened, highlighting the region’s commitment to early intervention and prevention.

The implications of this expanded screening are profound, as early detection can lead to timely treatment and significantly improve health outcomes for affected infants. The initiative reflects a broader understanding of the importance of addressing rare diseases from the very beginning of life, ensuring that families receive the necessary support and resources.

Key points

• The Canary Islands has over 82,000 individuals diagnosed with rare diseases.
• The Canary Islands Rare Diseases Strategy 2022-2026 aims to improve diagnosis and treatment.
• Rita Tristancho is the Director General for Patients and Chronic Conditions at SCS.
• The strategy includes objectives like equitable care and reduced diagnosis times.
• An Autonomous Registry of Rare Diseases has been implemented to enhance data sharing.
• Gran Canaria and Tenerife host reference units for comprehensive rare disease management.
• The Neonatal Screening Programme has expanded from 8 to 18 conditions screened, improving early detection.