TEHRAN – Eighteen more rare diseases have been identified in the country, bringing the total number of rare diseases to 531, according to the Rare Disease Foundation.

Idiopathic camptocormia, Intellectual disability, eye abnormalities, microcephaly, peripheral spasticity syndrome, Riboflavin transporter deficiency (Brown-Vialetto-van Laere syndrome (BVVL)), Mantle cell lymphoma, Chronic eosinophilic leukemia, combined immunodeficiency due to IL21R deficiency, Isolated tibial hemimelia, Phyllodes tumor of the breast, and 3MC syndrome are among rare diseases that have been identified in the country, Mehr news agency reported.

According to WHO, rare diseases are often serious, chronic, and life-threatening. The European Union (EU) definition of a rare disease affects fewer than 5 in 10,000 people. Around 80 percent of rare diseases are genetic disorders, and half of them occur during childhood.

Rare diseases affect millions of people globally and are often complex, involving multiple organ groups and resulting in disabilities and premature death. Many people living with a rare disease frequently experience diagnostic delays, fragmented care, limited access to effective interventions, financial hardship, stigma and social exclusion.

The incidence of rare diseases is very low to the extent that maybe one or two people with a certain rare disease are present in the country. Some rare diseases such as ‘butterfly skin or EB’, ‘Spinal muscular atrophy (SMA)’, ‘Metabolic diseases’, ‘Autism’, and ‘Dystrophies’ are among the most common cases in the country.

Among rare diseases, cancers are the most expensive ones covered by the Rare Disease Foundation so that 70 percent of the funds is 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.

The budget allocated to rare and hard-to-treat diseases has increased over the past few years, rising from 50 trillion rials (about 21.7 million dollars) in the first year to 120 trillion rials (about 52.17 million dollars) this year.

Health insurance provided for some 2m patients

In May, Sajjad Razavi, an official with the health ministry stated that 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 Razavi 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.
The day is a good opportunity to rethink the health system’s responsibilities toward patients who need ongoing, multidimensional care and comprehensive support because of the complex, chronic, and mainly hard-to-treat nature of their diseases.  

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.

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.

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

MT/MG