Monograph: Rare diseases (1)

Both this video and the other five that follow are made around the same theme: rare diseases. What they are, the level of research, the opinions of patients... all in a half-hour session.

The health. This is the answer most people give when asked to say a wish. We want to be healthy, but we live surrounded by diseases, and suffering any of them chronically becomes a problem in this welfare society. Today's program is dedicated to a special family of diseases called "rare diseases". Welcome to Teknopolis.

In medicine, the meaning of the term "rare diseases" goes beyond its literal meaning. Under this name, 6000 diseases are added, although each one has its own name. They're diseases that are identified. Some have been extensively researched, so their strangeness does not lie in ignorance about them. All these diseases are due to their low incidence in the population.

we said 6000, and we're not confused. There are many diseases. Below we will meet two people who suffer from two of these 6000 diseases: Oihana Mendizabal and Juanjo Menchisidor. Juanjo’s disease affects about 4,000 people in Spain... The forest, on the other hand, only about 80 people. We have approached them to find out how they live with these diseases.

Corte: "Hi, I'm Oihana and..."

Apert syndrome is a rare inherited disease. It causes malformations of the skull, hands and feet, as well as a series of functional alterations that vary greatly from case to case. The origin of this condition is a mutation in the FGFR2 gene. In the protein encoded by the gene, the mutation changes one amino acid to another. This mutation may be inherited from a parent with Apert syndrome, or, as in most cases, may occur for the first time in an egg or sperm and result in the birth of a sick child.

Corte: "Hi, I'm Juanjo and..."

Amyotrophic lateral sclerosis is a degenerative neuromuscular disease. Motor neurons, which gradually decrease their functioning and die. This results in progressive muscle paralysis. However, the patient does not lose sensitivity and intellectual potential. The origin of this condition is unknown and, for the moment, no effective treatment to stop it is known. In Spain, about nine hundred new cases are diagnosed each year and it is estimated that about 4,000 people are currently suffering from amyotrophic lateral sclerosis.