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Andrea’s disease (which now prefers to remain anonymous) is a rarity among the rare, autoimmune originates (as opposed to 80%, which are caused by an error in the genes) and currently can not benefit from surgery that do serve in the case of adult patients.

“We are the major neglected health system,” laments Isabel Campos, representative of the Spanish Federation for Rare Diseases (ERDF). His list of demands is not long, but concrete: “We need referral units with specialized personnel to shorten the time of diagnosis can now go from five to 10 years,” said Campos. And more financial aid: “20% of the household budget goes to care for the patient.”

He knows well the mother of Victor (nine years), one of the six cases of Joubert syndrome registered in Spain according to data from ERDF. Medical books speak of respiratory disturbance, ataxia (uncoordinated movements), mental retardation, hyperinsulinemia, polydactyly (more toes than normal), kidney problems … but Victor has managed to overcome many pessimistic predictions that doctors have been doing since birth.

Defying all odds, Victor and going to a regular school four days a week and only now beginning to know the other side of rare diseases, contempt and ridicule of their peers. “They laugh at him, and when he gets nervous accentuate stereotypes [uncontrolled movements of the head] and tics,” laments Bethlehem. “It is only now beginning to see their differences, but our commitment has always been to be as independent as possible and does not express any concern now is their normality.”

As is the Juanjo (24), one of 80 affected by Apert syndrome in Spain. “I became aware of my illness at age 18 following an article I read in the newspaper,” he says from his home. “The worst thing was the contempt of the people as a kid, but now I am happy, and does not affect me as much,” he confesses. Be different, if not prevented him from studying oenology and working in a community center in Aranjuez. Live there, and also goes on Saturday night with his friends: “If I have fought for normalcy, how can I be consistent?, Asks his mother, Pilar.