Canary, committed to rare disease patients

-Laureano Tejera, Canarian patient with PNH, enjoy a normal life thanks to the only treatment capable of reducing the risk of thrombosis, main causes of death among those affected by this pathology.

Canary Islands, 2012-June day Laureano Tejera began treatment with eculizumab began a new life for him. In 2009, after suffering from thrombosis of the splenic vein and splenic infarction, diagnosed paroxysmal Paroxística Nocturna (PNH), one of the so-called ultra-raras disease characterized by the destruction of red blood cells and which may cause an episode of thrombosis, leading cause of death among these patients.

According to the own Laureano, before the treatment, I had fatigue, severe headaches, urinated blood and my health was very weak. Administered me cortisone with the risk for physical impairment in the short term ”. Finally, two years ago, the Canary Islands health service authorized treatment for Laureano with eculizumab, drug approved by the Food and Drug Administration (FDA) and EMA (European Medicines Agency) in 2007, and the only one that has shown to improve the quality of life of PNH patients and reduce the risk of thrombosis, equating to the general population survival ”, stresses Jordi Cruz, President of the Association of patients of PNH.

Currently, Laureano can lead a normal life, can go for a walk with my wife and my children, knowing that my disease is controlled ”. In addition to Laureano, two Canarian Association of patients PNH patients are being treated with eculizumab.

From the Association appreciate the commitment of the Canary Islands health service with rare and ultra-raras in general and with the paroxysmal nocturnal Paroxística diseases in particular, especially taking into account that they are very serious, disabling and life-threatening diseases and need to be addressed quickly ”, points Jordi Cruz, who adds that have been critical when treatment has blocked some patient, but now plays recognize governance in relation to some diseases that require special treatment to ensure the survival of patients ”. Also, Jordi Cruz says that we like to good governance which is underway in the Canary Islands took place also in other autonomous communities where some patients with PNH have serious difficulties to access to treatment, creating an unfair situation of inequality ”.

Paroxysmal nocturnal Hemoglobinuria

The paroxysmal nocturnal hemoglobinuria (PNH) is a ultra-rara disease that affects about 250 patients in Spain. It’s a genetic disorder in which the normal natural proteins do not adhere properly to red blood cells and therefore they are unprotected from the immune system and are destroying prematurely and Chronicle [1]. It is a ultra-rara disease that progressively deteriorating patients and a real life threat.

Often the PNH occurs without be recognised initially, usually between 30 and 40 years, and an early diagnosis is essential. The value of the median survival of patients with PNH ranges between 10 and 15 years from the time of diagnosis [2]. PNH occurs without warning, and affects both sexes.

Until the time of the authorization of eculizumab, there is no specific therapy for the treatment of PNH. The treatment of this disease was limited to the management of symptoms by regular blood transfusions, a therapy immunosuppressive not specific and, rarely, bone marrow transplant, a procedure that carries a significant risk of mortality [3].