In the case of rare diseases

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Rare diseases. Rare diseases can suffer even every 20th pole, and we still know very little about them. What are rare diseases and how to solve the problems associated with their treatment and poor access to orphan drugs?

What are rare diseases and who are they affecting?

Almost 8 thousand disease units have been identified, each of which statistically appears in a very small number of people (at most one in 2 thousand). It seems that this is very small, but a large number of rare diseases cause that together they affect about 5% of the population. This means that about 2 million Poles are struggling with some unusual disease. Therefore, it is no exaggeration to say that “rare diseases are indeed rare, but patients with rare diseases are numerous”.

A rare disease can happen to anyone. It often appears in infancy. Sometimes, however, like Huntington’s disease or Crohn’s disease, it begins in adulthood. Many of these diseases are incurable and have a severe, progressive course-the patient’s condition is systematically deteriorating, there is a significant reduction in life expectancy or its quality.

What are the causes of rare diseases?

About 80% of rare diseases have a genetic basis. This means that they are caused by disorders (mutations) in the genes. Some of these conditions can be inherited. In the case of rare diseases, it is possible to carry out genetic tests to determine the risk of giving birth to a sick child. Such tests are especially indicated for couples seeking a child, if their family has already experienced such a disease.

However, very rare diseases with a non-genetic background are also known:

  • infectious – fungal (e.g. aspergillosis or histoplasmosis), bacterial (e.g. Whipple’s disease), viral (e.g. certain types of papilloma) or parasitic (e.g. drakunkulosis),
  • autoimmune-when your immune system attacks your own tissues (e.g. Churg-Strauss syndrome-inflammation of the blood vessels),
  • cancer-rare types of cancer (e.g. thymic cancer),
  • prion–caused by infectious proteins (e.g. degenerative diseases of the brain-kuru (“cannibal curse”) or Creutzfeldt-Jakob disease).

A specific type of rare disease, beyond the official classification, are occasional mental illnesses – such as, for example, Cotard’s syndrome, which is a delusion about one’s own death, or Capgras syndrome, in which the patient is convinced that people close to him have been swapped by doppelgangers.

What are the causes of rare diseases?

Can rare diseases be treated?

In some rare diseases, it is possible to carry out drug therapy-for example, gene therapy, acting on the principle of modifying the genetic material of cells, or enzyme replacement therapy, which involves the delivery of the missing enzyme to the patient’s body. For example, in Fabry disease with alpha-galactosidase A deficiency, agalsidase beta (e.g. Fabrazyme, Replagal) may be substituted, and in Gaucher disease with glucocerebrosidase deficiency, imiglucerase (e.g. Cerezyme) may be substituted.

The problem is the difficulty in making a correct diagnosis-the small number of patients suffering from this disease means that doctors lack experience in diagnosing it. In many countries, limited access to specialist genetic testing is also a barrier. The difficulty in making a proper diagnosis and the persistence of this process is referred to as a “diagnostic odyssey”.

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