TEHRAN – Twenty-five more rare diseases have been identified in the country, bringing the total to 518, according to an official with the Rare Disease Foundation.

A committee, run by the Rare Disease Foundation and comprising distinguished professors and faculty members from medical universities, is responsible for accurately diagnosing rare diseases, IRNA quoted Hossein Afra as saying.

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.

Diseases such as ‘butterfly skin or EB’, ‘Spinal muscular atrophy (SMA)’, ‘Metabolic diseases’, ‘Autism’, ‘Inflammatory Bowel Disease (IBD)’, ‘Dystrophies’, Diabetes, cancer, ‘Mucopolysaccharidoses (MPS)’, and immune deficiency diseases are among rare diseases.

The development of the atlas of rare diseases in Iran is one of the main achievements of the commission, he added. So far, the commission has released 4 volumes on neurology, metabolism, and genetics; the fifth volume will be published in the near future.

Developing insurance coverage for identified rare diseases, implementing a national document on rare diseases, and promoting social support for families of patients with rare diseases to lower financial burden and mitigate psychological distress are among the top priorities of the health system in the current Iranian year, which started on March 21, the official further noted.

According to the health ministry, about two million patients with rare and hard-to-treat diseases are covered by the Health Insurance Organization.

The Rare Disease Foundation also covers the patients, IRNA quoted Sajjad Razavi, an official with the health ministry, as saying.

The official made the remarks on the occasion of the national day of rare and hard-to-treat diseases observed annually on the 18th of Ordibehesht, the second Iranian calendar month, which falls on May 8.

To safeguard the patients’ health and lower financial burden on households, tens of specialized healthcare service packages have been defined for them, with some more being continuously developed.

The packages include diagnostic, therapeutic, pharmaceutical, rehabilitation, and dental services, whether in the form of outpatient or inpatient services, which are provided with minimal deductibles or free of charge.

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.

Despite lower prevalence, rare and hard-to-treat diseases are among the top health priorities due to difficulties in their diagnosis and treatment.

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.

Among rare diseases, cancers are the most expensive ones covered by the Rare Disease Foundation; 70 percent of the funds are allocated to cancer-related medicines. The rise in cancers highlights the need for the development of preventive programs, early detection, targeted screening, and fair access to health services.

Promoting health literacy, strengthening the referral system, and expanding preventive services are key factors in lowering mortality among patients.

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.

MT/MG