What you need to know about rare diseases

What you need to know about rare diseases
February 28 - International Day of rare diseases.Each of them is found in the Russian one in ten thousand, but everything from rare diseases affects about 2 million people.What is this disease and what problems these patients, says pediatrician Elena Frolova.

Rare disease - a disease that is rare in a population.Different countries have their own criteria for the rarity of the disease.In the EU, the disease is considered rare when it occurs in 1 out of 2,000 people in Japan - 1 out of 2500 in Russia - about 1 in 10 000.

Rare Disease Day was chosen by chance on February 29 - the rarest day of the year.When it is not, the International Day of rare diseases is transferred to the 28 th.

Currently in Russia in the list of rare diseases made 230 nosology.86 - a rare and life-threatening disease, for 27 of them developed therapeutic scheme, the money for drugs for the treatment of such patients are allocated from the regional budget, and sometimes - from the federal budget, ie for patients, they should be


Expensive and long

In practice, people with rare diseases have problems at first with the diagnosis, because often the correct diagnosis doctors are able to only large federal medical centers;and then with drugs - part of preparations not registered in Russia, it is often delayed due to bureaucratic delays at some simply do not have enough money.Often patients have to seek treatment through the courts.

Ill 1.5% of Russians, and the treatment is unprofitable to invent

Rare diseases are also known as orphan (from the Greek orphan -. Orphan), as a family, in which there is a patient with a rare disease often feel apart, isolated from society.

now known 5-7 thousand. Rare diseases.And although each of them is rare, collectively they affects about 2 million people in Russia.And all the world's rare diseases sick 7% of the population.

These include, for example, progeria (pathological aging, the world's recorded only 80 cases), cystic fibrosis, hemophilia, all forms of cancer in children and some forms of adult, phenylketonuria, Gaucher disease and Niemann-Pick, primary immunodeficiencies, and so on.d.

Development of drugs and treatments for rare diseases is not profitable pharmaceutical companies due to the lack of them a potential mass market.The study of such diseases should be sponsored by the state, and this is the subject of international cooperation among countries and health bodies.

rare diseases often accompanied by disturbances of motor or mental activity, pathology of the sense organs, affect the appearance.Therefore, such patients need full medical, psychological, educational and social assistance.

Some rare diseases can be treated before the onset of symptoms - to diagnose pathologies such conduct mass screening of newborns.

Newborn Screening

Identify some rare diseases still occur in the newborn due to neonatal screening.The children on the 4th day of life, blood is taken and checked it on cystic fibrosis, galactosemia, congenital adrenal hyperplasia, congenital hypothyroidism and phenylketonuria.

Galactosaemia, for example, does not require specific treatment, but only a special diet, without which there is a lag in the physical and mental development of the child.Screening costs are significantly lower than would be required later for maintenance and treatment of such patients.

Mass neonatal screening is carried out in 52 countries.In some of them the number of diseases that are scanned during a screening, much more than in Russia.In Japan, for example, they are 10, Germany - 14 in the US - up to 45. Many Russian experts believe that the screening program in our country should also be expanded.

Most rare diseases are associated with genetic and metabolic disorders.Some of them are shown at once, when other symptoms are accumulated over a lifetime.There are rare diseases that manifest in adulthood.30% of children with rare diseases do not live up to 5 years.

Social support for people suffering from rare diseases in Russia

Act governing the attitude to patients health protection of citizens with rare diseases, has entered into force relatively recently - from 1 January 2012.

Only then introduced the concept of rare diseases, their criteria, approved the list of rare disease, occurring in the territory of Russia (it is constantly updated), and a list of pathologies for which treatment algorithms developed and preparations for the care which must be issued free of charge.

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