One of these pathologies is the Congenital Muscular Dystrophy of Collagen Deficiency VI, which very aggressively affects children who suffer from it, causing the majority of those affected Stop walking before your teens. The loss of gait and generalized muscle weakness throughout the body, with the consequent loss of autonomy, adds a respiratory insufficiency, which results in very serious complications.
The gene therapies They are the great hope of those affected and their families. The investigations that are being carried out in this field are focused on correcting the gene mutation which encode the chains of collagen VI.
However, funds for these therapies are in short supply. "As in other rare diseases, the lack of support for research by public administrations makes the associative movement of families and affected people the main source of financing for these research projects," said the Noelia Foundation, the only existing worldwide focused solely on neuromuscular diseases.
This entity recounts the case of Elena, an 8-year-old girl who, with the help of her grandmother, wrote a book 'Me, Elena and my story ', about his own experience, with the aim of making his illness known and raising public awareness about the need to promote fundraising.
The purpose with which one works is that "the cure is possible, if we make research possible ", The Foundation concludes.