TEHRAN – A total of 492 rare diseases have been identified in the country, according to an official with the health ministry.

A rare disease is defined as an illness that affects less than 5 in 10,000 citizens, and is mainly of genetic origin, with 70 percent of these conditions starting in childhood. 

Some 6000 to 8000 rare diseases have been identified worldwide. Despite their low prevalence, they impose a significant economic burden on patients, families, and healthcare systems, the health ministry’s website quoted Sajjad Razavi as saying. 

Apart from genetic factors, consanguineous marriage, drugs, and drug abuse, smoking and alcohol intake during pregnancy are among the most critical risk factors, he added.

The official made the remarks on the occasion of the National Rare Disease Day marked on Friday. The Day is held annually on the eighth day of Esfand (the last Iranian calendar month), which fell on February 27 this year.

There are no cures for rare diseases, and patients with rare diseases need supportive care, and rehabilitation services throughout their lives. Hence, the day highlights the need for coherent planning, the development of recurrent specialized services, genetic counselling, the expansion of insurance coverage and social support.

Adopting preventive measures, and promoting public awareness and health literacy are among other main objectives of the day, Razavi further noted. 

In Iran, over three million patients identified with more than 130 rare and hard-to-treat diseases are covered by Salamat Health Insurance Organization.

Salamat Health Insurance Organization, in cooperation with the Ministry of Health, established the Rare Disease Foundation in the Iranian year 1401 (March 2022 to March 2023). Back then, nine rare and hard-to-treat diseases were identified. The foundation covers rare and hard-to-treat diseases to promote health equity and support patients financially, IRNA quoted Mohammad-Esmael Kameli, an official with the health insurance organization, as saying.

Before the establishment of the foundation, patients suffering from Thalassemia, hemophilia, kidney failure, Hemodialysis were supported. Diseases such as ‘butterfly skin or EB’, ‘Spinal muscular atrophy (SMA)’, ‘Metabolic diseases’, ‘Autism’, and ‘Dystrophies’, Diabetes, cancer, and immune deficiency diseases are among rare diseases. Cancers are the most expensive diseases covered by the foundation; 70 percent of the funds is allocated to cancer-related medicines

The budget allocated to rare and hard-to-treat diseases has increased over the past few years, rising from 50 trillion rials (about 33 million dollars) in the first year to 120 trillion rials (about 75 million dollars) this year.

According to the World Health Organization (WHO), rare diseases are often complex and multi-systemic, affecting multiple organs and leading to comorbidities, and many of these conditions are chronic, progressive, and can consequently result in serious disabilities and premature death.

Out of a thousand population, 2 people get a rare disease, while the prevalence can be curbed by changing people’s culture, screening, identifying, preventing births, and raising awareness.

International Rare Disease Day is observed each year on 28 February (or 29 February in leap years). The European Organisation for Rare Diseases established the day in 2008 to raise awareness for unknown or overlooked illnesses.

Rare Disease Day is a globally coordinated movement dedicated to rare diseases, striving for equity in social opportunities, healthcare, and access to diagnosis and therapies for people living with a rare disease.

The day aims to improve the lives of the 300 million people worldwide living with a rare disease.

This year’s theme, ‘More Than You Can Imagine,’ reminds us that rare diseases are far more common, complex, and impactful than many realise. While each individual condition may affect a small number of people, collectively rare diseases represent one of the most significant yet under-recognised public health challenges worldwide.