Orphan diseases
On the last day of February – the 28th or 29th – International Rare (Orphan) Disease Day is celebrated.
The English word "orphan" means "orphan" - and this is the most important thing to know about people suffering from orphan diseases.
1. Rare (orphan) diseases Orphan diseases are diseases with a low prevalence in the population. In the European Union, a disease is considered rare if it affects fewer than 5 people per 10; in Russia, it's 10 cases per 100. More than 6 to 7 such diseases are known. 72% of them are genetic. Around 300 million people worldwide suffer from orphan diseases. A significant portion of these diseases are chronic and progressive, often leading to disability.
2. People unfortunate enough to have one of these diseases face enormous challenges, first in diagnosis and then in obtaining adequate treatment. Symptoms can vary greatly among patients with the same condition, and doctors rarely have sufficient experience with a particular orphan disease: less than 5% of rare diseases have approved diagnostic and treatment methods. Furthermore, most of them require very expensive treatment.
3. In Russia, medications for rare diseases are supposed to be distributed according to the Ministry of Health's subsidized lists, but this is constantly a problem. For example, in the Kaliningrad region, there were recent shortages of cystic fibrosis medications, and in the Krasnoyarsk region, children with this diagnosis are being transferred to generic medications, which worsen their condition. And the father of five-year-old Misha Bakhtin from Yekaterinburg, who suffers from spinal muscular atrophy, repeatedly protested on Red Square to secure injections of the expensive drug Spinraza for his son.
4. Spinal muscular atrophy (SMA)
A hereditary disorder caused by a mutation in the SMN1 gene, leading to the death of spinal cord motor neurons. The disease manifests itself as progressive muscle weakness and respiratory failure. It occurs in approximately 1 in 10,000 live births. Without treatment, severe forms lead to death in early childhood. Gene and molecular therapies have become available in recent years, but a standard annual treatment course costs tens of millions of rubles.
5. Gaucher disease
A hereditary metabolic disorder associated with a deficiency of the enzyme glucocerebrosidase. This leads to neurological impairment and lipid accumulation in the liver, spleen, and bone marrow. Symptoms include anemia, bone pain, and organ enlargement. The incidence is approximately 1 in 50 to 100 people. There is no specific cure for Gaucher disease, but enzyme replacement therapy is possible.
6. Progeria (Hutchinson-Gilford progeria syndrome)
Progeria is an extremely rare genetic disorder that causes accelerated aging in children. Children with the disorder appear elderly, have growth retardation, hair loss, and cardiovascular complications. The average life expectancy for patients is approximately 13–15 years. The prevalence is approximately 1 in 20 million people.
7. Cystic fibrosis
A hereditary disorder caused by a mutation in the CFTR gene, leading to the formation of thick mucus in the lungs and digestive organs. This causes chronic respiratory infections and malabsorption of nutrients. The incidence is approximately 1 in 2,500–3,500 live births in Europe. The disease requires lifelong treatment and monitoring. The average life expectancy for patients with cystic fibrosis in European countries is 40 years, in Canada and the United States it is 48 years, and in Russia it is 22–30 years.
8. Hemophilia
A typically hereditary disorder in which the blood does not clot properly due to a deficiency of the proteins involved in blood clotting (clotting factors). It is sometimes called the "royal disease" because it was diagnosed in descendants of Queen Victoria (including the Russian Tsarevich Alexei). The prevalence is 1 in 10 people, with men affected significantly more often than women. In hemophilia, bleeding after injury can last longer than with normal blood clotting. Internal bleeding can damage organs and tissues and be life-threatening.
