A total of 1,937 people suffer from rare diseases in the Balearic Islands, affecting men and women equally. However, estimates indicate that around three million people in Spain are affected, meaning that the archipelago could have up to 80,000 people with one of these conditions.

The Population Registry of Rare Diseases of the Balearic Islands, affiliated with the Directorate General of Public Health, has documented 32 rare diseases in its latest report. Among them are Tetralogy of Fallot, congenital hypothyroidism, Kawasaki syndrome, familial Mediterranean fever, Andrade disease, Leber’s optic neuropathy, and primary biliary cirrhosis.

Rare, uncommon, or minority diseases affect fewer than 5 in every 10,000 people. However, their impact on healthcare systems is significant, considering that between 6,000 and 8,000 rare diseases have been described, potentially affecting 7% of the world’s population.

Conference to Improve Diagnosis and Visibility of Rare Diseases in the Balearic Islands

To mark World Rare Disease Day, celebrated today, 28th February, the Balearic Ministry of Health organised a conference on Thursday at Son Espases Hospital titled “Rare Diseases: Recognise Them, Change Lives”. The event brought together a hundred attendees, including healthcare professionals, specialists, and patient associations, with the aim of improving early diagnosis and expanding knowledge about these conditions.

The conference “Rare Diseases: Recognise Them, Change Lives” brought together a hundred attendees, including healthcare professionals, specialists, and patient associations. Photo: CAIB.

Among those present at the inauguration were Joan Simonet, Director General of Benefits, Pharmacy and Consumer Affairs; Cristina Granados, Managing Director of Son Espases University Hospital; Gabriel Rojo, Deputy Director of Humanisation, User Care, and Training at the Balearic Islands Health Service; and Mª Teresa Bosch, Coordinator of the Rare and Complex Diseases Strategy of the Balearic Islands.

Research on Andrade Disease

One of the notable participating associations was AEBA, the Balearic Association for Andrade Disease. This condition, also known as hereditary variant transthyretin amyloidosis (ATTR), is an endemic hereditary disease in the Balearic Islands that primarily affects the heart, potentially leading to progressive heart failure and even death.

The Balearic Islands Institute for Health Research (IdISBa) has received €500,000 to research this disease, thanks to the collaboration between the Balearic Research Group on Genetic Cardiopathies, Sudden Death and TTR Amyloidosis, led by Dr. Tomás Ripoll, and the Health Genomics Group, directed by Dr. Damià Heine, both from IdISBa.