TEHRAN – The National Document on Rare Diseases has been approved with the aim of preventing the birth of infants with rare diseases, 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 of Iran and the University of Tehran and was drafted by prominent domestic and foreign experts, was approved by the Ministry of Health.

Hamidreza Edraki, CEO of the Rare Diseases Foundation of Iran, said that the strategic document is a big step towards resolving medical and treatment problems and relieving the pain of rare patients, IRNA reported on Monday.

After the approval of the Document, all related bodies will be obliged to take measures in this regard, and the programs will be monitored nationally.

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.

According to the statistics published in 2019, the number of rare diseases identified in Iran has reached 332 types of diseases and about 4,750 people are covered by the Rare Diseases Foundation of Iran.

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 the births, and raising awareness.

According to WHO, rare diseases are often serious, chronic, and life-threatening. The European Union (EU) definition of a rare disease is one that affects fewer than 5 in 10,000 people. At present, more than 6000 rare diseases are known; around 80 percent of them are genetic disorders and half of them occur during childhood.

Grouped together, rare diseases affect 6–8 percent (or about 30 million people) out of the 508 million population of EU countries. This roughly equals the estimated prevalence of diabetes in the World Health Organization European Region, which in 2013 was 6.8 percent of 658.7 million adults in the 20 to 79-year age group.

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 an effective drug treatment available.

FB/MG