65% of rare diseases are severe and disabling

February 28th is World Rare Disease Day. According to the World Health Organization, a rare disease is one that affects a small number of the world’s population. Specifically in Europe, it is quantified as 1 in 2,000 inhabitants.

This World Day is celebrated to give voice and promote research into these rare diseases, which affect between 6 and 8% of the world’s population.

These diseases are characterized by being, for the most part, chronic and degenerative. Up to 65% of them are considered severe and disabling and are identified by:

  • Having an early onset in people’s lives. In fact, it is estimated that two out of three cases appear before the age of two).
  • Chronic pain.
  • In practically half of the patients, the vital prognosis is at stake, attributing to them 35% of deaths before one year.
  • One in three cases ends up suffering a disability in autonomy.

Dr. Josep Ordi Ros, specialist in Internal Medicine, defines what rare diseases are and the latest advances.

What is a rare disease?

A disease is considered rare because it has a low prevalence. A very poor definition because it does not provide anything in terms of cause, clinical, prognosis or diagnosis. The diagnosis is made by going to the doctor, who is almost always a pediatrician or an internist. From the diagnosis if it has a low prevalence it is considered rare.

The causes of these pathologies can be summarized in two: congenital and acquired.

What are the latest advances in rare diseases?

The advances come from progress in medicine such as genetics, autoimmunity or biological therapies.

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The grouping of these patients within rare pathologies or in units of these diseases does not contribute anything scientific, since it only represents a sanitary structuring or redistribution of these patients. These patients almost always end up being treated by the same doctors before the creation of the rare disease units.

For more information on rare diseases, please contact a Top Doctors specialist.