A total of 442 rare diseases have been identified in the country according to a recent report by the Rare Disease Foundation.

According to The Iran Project,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.

In this regard, the National Rare Disease Day is held annually on the eighth day of Esfand (the last Iranian calendar month), which falls on February 26, to raise awareness and generate support for individuals with rare diseases and their families.

The Day was approved to be designated as the national day of rare disease in the national calendar in May 2021.

Rare diseases are associated with a high psychological burden for the patient but they can also have a major impact on a patient’s family. In addition to the health burden on patients, few of these diseases have effective drug treatment available.

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.

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.

Since it takes approximately eight years for a rare disease patient to receive an accurate diagnosis, the medical houses and medical science universities have been provided with a book on rare diseases to help them diagnose people affected by rare diseases or those suspected of having one.

Once identified, the patients are referred to a specialty clinic, and their information is recorded to be introduced to the Health Ministry and Food and Drug Administration to provide their needed medicines. 

Thanks to the efforts of the Rare Disease Foundation, patients with rare diseases are covered by health insurance.

Every year, a scientific congress on rare diseases is held by medical science universities. This year's congress on ‘Rare kidney patients’ will be held in Tehran on Thursday, February 29.

A sum of 50 trillion rials (about $100 million) was allocated in the past Iranian calendar year that ended on March 20, 2023, IRNA reported, adding that the figure rose to 70 trillion rials this year.

Considering the number of patients identified, the needed medicines, and medical tools, a sum of 150 to 180 thousand trillion (about $300 million) is expected to be allocated for the next Iranian calendar year, beginning on March 21.

The Rare Disease Day is globally observed on the last day of February, which this year is February 29. This year it is marked under the theme of unite for a change, unite for equity.

National Document on Rare Diseases

The National Document on Rare Diseases was approved in December 2020 with the aim of preventing the birth of infants with rare diseases, as well as medical and therapeutic problems.

Patients with rare diseases launched and signed a petition calling for drawing up a national document on rare diseases on the occasion of Rare Disease Day, February 28, 2019.

The National Document on Rare Diseases, which was recently prepared in collaboration with the Rare Diseases Foundation and the University of Tehran was drafted by prominent domestic and foreign experts.

The main vision of this document is to prevent the birth of infants with rare diseases and to solve the medical and therapeutic problems of rare patients in the country.