Portal de Totana
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The inauguration of the Celia Carrión Pérez de Tudela street will be on April 2, starting at 10:30 hours, and will name an urban stretch of the current street San Cristobal de Totana, in the area between Santa Eulalia Avenue and Rambla de La Santa, respectively.
The daughter of the marriage of Juan Carrión and Naca Pérez de Tudela will give a new name to the urban space where the Multidisciplinary Center "Celia Carrión Pérez de Tudela" is located today, managed by the Association of Rare Diseases D'Genes and the Association of Relatives And Affected Lipodystrophies (AELIP).
The initiative comes to comply with the plenary agreement of May 2014 by which, unanimously by the Municipal Corporation, approved, at the request of the Councils of Social Care and Health, designate with that name a public space that symbolizes the object of This recognition, collaboration and fight against rare diseases in Totana.
This action was agreed by the City Council of Totana, promoted by the associations D'Genes, AELIP and FEDER Murcia, given the significance that this totanera girl represents as impeller and inspirer of the social and institutional movement that led to the actions against such diseases .
The initiative is one more than the one that has carried out the municipality of Totana in recent years as a reference city in the sensitization and fight against rare diseases.
At present, in the Multidisciplinary Center "Celia Carión Pérez de Tudela" are being carried out with the users more than a hundred sessions of the different services.
At the moment, the number of users who are attending round the eighties, to which must be added those of the different delegations with which D'Genes counts in different municipalities of the Region, such as Murcia, Campos del Río or the region of the Northwest .
The center offers a wide portfolio of services, including social care, information and counseling, physiotherapy, psychology, hydrotherapy, speech therapy, cognitive stimulation, reflexology, reiki, job counseling, legal counseling, psychological care, family respite, palliative care and Home care
The Multidisciplinary Center "Celia Carrión Pérez de Tudela" is located at number 7 of the current street San Cristobal de Totana and its opening hours are Monday to Friday from 8:30 a.m. to 8:30 p.m.
Name a new disease
In addition, thanks to Celia Carrión Pérez de Tudela, and to the research that developed with her case since 2009, it was possible to discover a disease that is a subtype II of Berardinelli's congenital lipodystrophy and that was baptized with the name of "Encefalopatía Of Celia "in his memory.
With the help of her family, she was allowed to investigate, with medical tests and explorations carried out with Celia Carrión, to document the disease that had claimed the lives of five children in the Region of Murcia, but without a diagnosis.
And now since 2013 after the world publication is known and can be diagnosed, as well as work on awareness, information and even prevention of pathology.
The scientists wanted to pay homage to Celia Carrión, who would now be 13 years old, precisely on the anniversary of her death, after the long struggle of her parents, Juan Carrión, current president of D'Genes, the Spanish Federation of Rare Diseases (FEDER) And the Ibero-American Alliance of Rare Diseases (ALIBER);
And Naca Pérez de Tudela, who was the founder and president of the association D'Genes and presently heads AELIP.
Both are working to raise funds and mobilize and sensitize the population to continue this struggle for scientific and clinical research, as well as help improve the quality of life of people with rare diseases.
A mutation in the BSCL2 gene is behind this encephalopathy;
And so far, scientific literature has only described effects on fat by mutation of this gene, not in the brain.
The affected patients in Murcia initially had symptoms of lipodystrophy, but at 2 or 3 years of age, neurodevelopment began to be stopped and an involution, a neurodegenerative process, began.
The disease has no cure, and patients die before age nine.
The BSCL2 gene encodes the seipin protein.
The mutation causes an aberrant protein that is also present in a greater proportion in the brains of the patients than is the seipina under normal conditions.
Source: Ayuntamiento de Totana
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