On 19 April, the International Association of Relatives and Affected by Lipodystrophies (AELIP) commemorated its ninth anniversary since its birth in 2012.
AELIP was founded thanks to the legacy left by Celia Carrión Pérez de Tudela, daughter of Juan Carrión Tudela and Naca Pérez de Tudela Cánovas, vice-president and president founders of the association.
Celia was born in Totana, a village in Murcia. And although she had some feeding problems at the beginning, neither her parents nor the doctors noticed anything very worrying about her.
When Celia was about to turn two years old and after a genetic test, a doctor at the Virgen de la Arrixaca Hospital in Murcia diagnosed her with "congenital lipodystrophy of Berardinelli".
It is a disease caused by a mutation in the BSCL2-seipin gene that causes an almost total absence of fat, a robust appearance and metabolic disorders.
But the girl's symptoms did not match those typical of the disease, and so began a search that was joined in 2008 by Dr. David Araújo-Vilar, a doctor at the Hospital Clínico Universitario de Santiago de Compostela.
The parents noticed that Celia was losing her abilities, as if she had suddenly forgotten everything. Everything happens very quickly. Celia stops sleeping at night. At the age of four, Celia no longer walks at all and hardly sleeps.
This involution and cognitive deterioration eventually led to Celia's death on 31 March 2012. That same day, her parents called Dr. David Araujo to tell him the news and to offer samples of Celia's tissues" to help in the investigation of her pathology.
In 2013, Araújo-Vilar published the first scientific article on the case in the Journal of Medical Genetics. And he baptised the disease, about which he had managed to unravel almost all the remaining mysteries, as Celia's Encephalopathy.
Since then, AELIP has been pursuing very clear objectives that aim to improve the quality of life of people and families living with Lipodystrophy in the world, to provide its portfolio of services to all affected people who need it and to promote and support research into Lipodystrophies.
AELIP HAS ALLOCATED A TOTAL OF €204,136.77 TO SUPPORT RESEARCH INTO LIPODYSTROPHIES IN SPAIN SINCE 2012.
9 years supporting and promoting Lipodystrophy research in Spain. Research has been, is and will be one of the main priorities in the lines of action of our organisation, which, since its inception, understood that without research there was no future for people affected by Lipodystrophy. AELIP's priority is to develop an area of action and research to improve the quality of life of people with lipodystrophy.
In this sense, our association supports different lines of research that are being developed at the University Hospital of Santiago de Compostela and the Hospital La Paz in Madrid.
Research is the only hope for people and families living with lipodystrophy in the world and we have reiterated this on numerous occasions since our inception, but our commitment goes far beyond demanding and promoting governments to invest more financial resources in research but from AELIP we financially support the two lines of research in lipodystrophies that currently exist in Spain.
Since 2012, AELIP has allocated a total of 204,136,77€ of its funds to support the research lines in Lipodystrophies in Spain, which have allowed us to publish numerous articles and advance our knowledge of these pathologies classified as rare and ultra-rare.
Currently, AELIP continues to collaborate with research with an annual grant of €67,200 distributed equally to:
LIPODISTROPHIES UNIT (UETeM) RESEARCH LINE OF THE CENTRE FOR RESEARCH IN MOLECULAR MEDICINE AND CHRONIC DISEASES (CIMUS) OF THE UNIVERSITY OF SANTIAGO DE COMPOSTELA (2003-2020).
LINES OF RESEARCH AT LA PAZ HOSPITAL IN MADRID
