Rare diseases in children

Every person has to visit a doctor from time to time. From the very first days of life, kids are faced with acute respiratory disease, influenza, chickenpox, whooping cough and other childhood sores. As a rule, their diagnosis does not cause complications, and treatment methods are checked for years.

Sometimes a loving mother and herself becomes a good diagnostician and doctor, coping well with childish ailments. However, along with such everyday diseases in the world there are also very rare diseases affecting only a small part of the population.

From the birth of children with rare diseases is not insured by any family, even if the excellent health and youth of both spouses. To date, there are about 7 thousand rare diseases.

Most of them (about 80%) are rare genetic diseases, the rest is of an infectious nature, is a consequence of allergic reactions or is formed under the influence of negative environmental factors.

Among the rare diseases, there are really exotic, there are only a few dozen people in the world: the Monrada-Kron syndrome, Gaucher syndrome, Nyman-Pick disease, progeria and others. There are diseases, which, on the contrary, are quite common.

For example, the probability of giving birth to children with Down syndrome is 1: 800, and people with an elephant disease diagnosis in the world have 120 million. In Russia, a rare disease that occurs no more often than one in 10,000 people is rare.

These include: bullous epidermolysis, imperfect osteogenesis, Fabry’s disease, Menkes syndrome, gigantism and dwarfism, and others.

The main problem of rare diseases is a complicated, and sometimes even impossible, diagnosis, the lack of a competent information base, medical knowledge and, as a consequence, the impossibility of effective treatment. Often, such patients wait for the diagnosis to be made correctly for more than one year, and during this time they receive inadequate, and often even harmful, treatment, which significantly worsens their condition.

Fortunately, science does not stand still, in recent years there has been a significant increase and a qualitative improvement in the lives of patients with a rare diagnosis.

In half the cases, rare childhood illnesses are congenital. They are easy to diagnose already during the period of newborns, for example, imperfect osteogenesis and bullous epidermolysis, the so-called butterfly disease, in children manifest from the very first days of life. Children with Down’s Syndrome also come into the world with pronounced symptoms.

However, some diseases can manifest themselves only after a few years, for example, the symptoms of progeria, gigantism and dwarfism attract attention after the first year.

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