Farewell to Elena, the eighteen year old affected by a very rare disease and trapped in the body of a child

It is now free. A few months ago he said to the mother: “I want to be free, free from all these medicines, from all these hospitalizations.” Elena was 18 years old and passed away yesterday at the Gaslini hospital in Genoawhere it had been hospitalized for a few weeks, under treatment for its disease, genetically determined mitochondrnopathy (Nubpl). In recent days he had started a new cycle of therapies.

This very rare pathology blocks the growth and compromises the functioning of the internal organs. In Italy, Elena – trapped in the body of a five -year -old girl – was the only person suffering from this conditionwhile in the world there are only about twenty cases.

The news of his disappearance was announced by his mother Andrea through the Instagram page @ildarioDiuanamamarara, which has over 220 thousand followers. “Elena, honey, I want to remember you with this smile», He wrote. «Now you will sing with the angels. Your family will love you forever. One day we will meet again ». The mother also announced the date of the funeral, which will be held tomorrow in the Evangelical Church of Genoa. “For us it is only a goodbye, Elena.”

Despite the extremely complex clinical picture, Elena and her family had found a balance and lived a life full of love, courage and determination. The girl faced the disease with a smile and had never given up on her biggest passions: music and sewing. Thanks to its incredible strength of mind, it had become an example of strength and positivity.

Elena’s parents, Andrea and Paolo, together with the other three children, they gave birth to a fundraising that made it possible to start the first research project on the Nubpl at the University of Verona. As the Nubpl Foundation explained, the scientific community has started to progress in the study of this disease only since 2010, with the discovery of the nubpl gene mutations (Nucleotide-binding Protein-like). This gene can cause a rare disorder of the mitochondrial complex 1. It has been understood that patients with this pathology have neurological symptoms between 3 and 18 months of life, including delay in development, ataxia, nystagmus, difficulty in the articulation of language and cerebellar dysfunctions.

«It is with profound sadness that we learn of the disappearance of Elena, a young Genoese girl who With his strength he was an example of courage in research against rare diseases“, So the president of the Liguria region, Marco Bucci, mentioned it. “His path represents an example of determination and we are sure that his smile will remain in the memories of those who knew it”.